胎儿颜面轮廓的超声研究
|
摘要
目的
应用二维及三维超声测量多个颜面相关指标评估胎儿颜面轮廓,并比较两种方法的测量稳定性,对初步建立中国人群正常胎儿的颜面轮廓生长发育趋势进行尝试性研究。
资料与方法
2013年4月-2014年2月期间于我院进行产科超声检查的孕11周～38周孕妇共439例。
联合评估胎儿颜面轮廓的各项指标：1.确定测量切面即颜面正中矢状面的标志性结构；2.测量鼻骨长度(nasal bone length,NBL)、鼻前组织厚度(prenasal thi-ckness,PT),并计算PT/NBL；3.确定颜面轮廓线(facial profile line,FPL)的三种分型,即零,阴性和阳性,阳性时测量FPL到额骨外缘的距离F；4.规范各颜面角度如额-上颌角(frontomaxillary facial angle,FMF)、额-鼻角(frontonasal angle,FNA)、上下颌面角(mandibulomaxillary facial angle,MMF)、上颌-鼻根-下颌角(maxilla-nasion-mandible angle, MNM)的定义。
在最先获取的100个样本中随机抽取30例进行二维和三维之间的测量一致性分析；并对两种方法在不同测量者间,及同一测量者内的不同次测量间,进行测量稳定性的分析。
选取稳定性良好且操作简单的方法进行所有胎儿颜面结构的测量。建立初步的胎儿颜面轮廓发育趋势,并分析颜面轮廓与孕周(gestational age,GA)的关系。
结果
1、一致性分析：30例样本均分析NBL、PT、PT/NBL、FMF、FNA、MMF和MNM,上述各测量指标二维与三维测量方法的组内相关系数(intra-class correlationcoefficient,ICC)分别为0.984、0.985、0.751、0.780、0.838、0.760、0.729；二维超声在同一测量者不同次测量之间的ICC分别为0.994、0.994、0.741、0.891、0.963、0.887、0.954；二维超声在不同测量者间的ICC分别为0.982、0.890、0.708、0.815、0.903、0.811、0.917：三维超声在同一测量者不同次测量之间的ICC分别为0.997、0.996、0.878、0.968、0.962、0.974、0.988；三维超声在不同测量者间的ICC分别为0.994、0.991、0.746、0.948、0.905、0.874、0.889。对于FPL,二维及三维方法评估显示分类结果一致。
2、胎儿NBL与PT随孕周而增大,其关系方程式符合S曲线,方程分别为：NBL=e3.097-30.563/GA, PT=e2.703-30.093/GA;PT/NBL在整个孕周保持稳定,平均值为0.70。
3、正常胎儿FPL无“阴性”结果。多数结果为“零”,占92.26%,“阳性”结果占7.74%,集中在11-13周及26-38周,“阳性”时测量F值范围0.10-0.51cm(0.24±0.10cm)。
4、胎儿各颜面角度发育与孕周相关,关系方程式均符合三次多项式：FMF角与孕周呈负相关,方程式：FMF角=135.300-6.473×GA+0.235×GA2-0.003×GA3(R2=0.240,P=0.000)；FNA与孕周呈正相关,方程式：FNA=58.920+7.452xGA-0.274×GA2-0.003×GA3(R2=0.297, P=0.000); MMF角与孕周呈负相关,方程式：MMF=132.329-5.337xGA+0.191×GA2-0.002xGA3(R2=0.304, P=0.000);MNM角与孕周呈正相关,方程式：MNM=-24.592+4.653×GA-0.173×GA2+0.002xGA3(R2=0.413,P=0.000)。
结论
1、对颜面轮廓各指标定义进行规范后,三维超声评估胎儿颜面轮廓的观察者内及观察者间一致性较好,临床应用中具有明显优势
2、胎儿鼻骨长度及鼻前组织厚度与孕周密切相关,随孕周呈S曲线增长,鼻前组织厚度与鼻骨长度之比在整个孕周保持稳定
3、正常胎儿颜面轮廓线无“阴性”表现
4、胎儿颜面角度变化与孕周相关,曲线拟合三次多项式相关程度最高
目的
回顾分析染色体异常胎儿颜面轮廓的特点,评估颜面轮廓相关指标对染色体异常的提示价值
资料与方法
病例组选取2008年3月-2013年1月期间于我院进行产科超声检查并有明确染色体结果的胎儿共26例,其中21-三体21例,18-三体5例。对照组随机选取正常胎儿325例。
回顾分析胎儿颜面正中矢状面图像,联合评估颜面轮廓的各项指标：1..测量鼻骨长度(nasal bone length, NBL)、鼻前组织厚度(prenasal thickness,PT),并计算PT/NBL；2.确定颜面轮廓线(facial profile line,FPL)的三种分型,即零,阴性和阳性,阳性时测量FPL到额骨外缘的距离F；3.规范各颜面角度如额-上颌角(frontomaxillary facial angle,FMF)、额-鼻角(frontonasal angle,FNA)、上下颌面角(]mandibulomaxillary facial angle,MMF)、上颌-鼻根-下颌角(maxilla-nasion-mandible angle,MNM)的定义。
将上述颜面轮廓的各相关指标与对照组正常胎儿各参考值范围进行对比分析,评估染色体异常胎儿与正常胎儿之间的差异。
结果
1、21-三体胎儿
21例21-三体胎儿中,11例鼻骨缺失,余10例胎儿的NBL与对照组正常胎儿无明显差异(P>0.05)。21-三体胎儿PT明显增厚,平均值为5.67mm,与正常胎儿的平均值4.21mm存在显著差异(P<0.05),并且76.2%(16/21)高于正常胎儿第95百分位数。存在鼻骨的10例21-三体胎儿计算PT/NBL,平均值为1.21,明显大于正常胎儿的平均值0.69(P<0.05)。
21-三体胎儿FPL14例为“零”,4例“阳性”(F值0.23-0.55cm),3例“阴性”。3例FPL“阴性”的胎儿存在前额扁平。
21-三体胎儿与正常胎儿在FMF角与MNM角之间存在显著差异(P<0.05)。在21-三体胎儿中,95.2%(20/21)的FMF角大于正常胎儿的平均值,38.1%(8/21)大于正常胎儿的第95百分位数；85.7%(18/21)的MNM角小于正常胎儿的平均值。
2、18-三体胎儿5例18-三体胎儿中,NBL、PT及PT/NBL与正常胎儿无明显差异(P>0.05)。18-三体胎儿2例FPL为“零”,3例“阴性”,无“阳性”结果。3例FPL“阴性”的胎儿均存在小下颌。
18-三体胎儿与正常胎儿在MMF角与MNM角之间存在显著差异(P<0.05)。在18-三体胎儿中,100%(5/5)的MMF角小于正常胎儿的平均值,40%小于正常胎儿的第5百分位数；100%(5/5)的MNM角大于正常胎儿的平均值,40%大于正常胎儿的第95百分位数。
结论
1、颜面正中矢状面可为筛查胎儿染色体异常提供多个信息,该切面应作为中孕超声筛查的常规内容
2、鼻骨及鼻前组织厚度的测量对于21-三体的筛查意义明确,FMF及MNM角有助于提示颜面扁平,可作为筛查21-三体的辅助超声标记
3、MMF及MNM角可提示小下颌,对诊断18-三体具有一定意义
4、FPL可初步判断胎儿前额及下颌异常
Objective
To evaluate some ultrasound markers of the fetal facial profile with two-dimensional and three dimensional ultrasound, and to compare the reliability of both of the two methods. To construct a preliminary reference of normal fetal facial profile in Chinese population.
Methods
From2013April to2014February,439singleton fetuses ranged between11and38weeks of gestation were enrolled in this study.
The indicators of facial profile were defined:1.confirm the details of mid-sagittal plane of facial profile;2.measurements of nasal bone length (NBL) and prenasal thickness (PT) were obtained, then calculate the PT/NBL ratio;3. facial profile line (FPL) was defined as'zero','negative'or'positive', repectively. When the FPL was'positive' the F distance between the FPL and the frontal bone wea measured.4.confirm the definition of frontomaxillary angle (FMF), frontonasal angle (FNA), mandibulomaxillary angle (MMF), maxilla-nasion-mandible angle (MNM).
The intra-and interobserver reliability of different sonographic methods was calculated in30cases.
Three dimensional(3D) ultrasonographic method was used for its good reliability and convenience to evaluate fetal facial profile of all enrolled fetuses.Pearson's correlation coefficient, curve estimation and polynomial regression models were used to evaluate the correlation of the indicators of fetal facial profile with gestational age (GA).
Results
1. As to NBL, PT, PT/NBL, FMF, FNA, MMF, MNM, intra-class correlation coefficient(ICC)between2D and3D wereO.984、0.985、0.751、0.780、0.838、0.760and0.729, respectively. Intraobserver ICC of2Dwere0.994、0.994、0.741、0.891、0.963、0.887and0.954, respectively. Interobserver ICC of2D wereO.982、0.890、0.708、0.815、0.903、0.811and0.917, respectively. Intraobserver ICC of3D were0.997、0.996、0.878、0.968、0.962、0.974and0.988, respectively. Interobserver ICC of3D wereO.994、0.991、 0.746、0.948、0.905、0.874and0.889, respectively.Either2D or3D method, the same classification on result of FPL was shown to prove the consistency of the two methods is good.
2. Using GA as the independent variable and NBL and PT as the dependent variables, the best fit regressing equation was NBL=e3097-30.563/GA, PT=e2.703-30.093/GA.The Pearson's correlation coefficient between NBL and PT with GA were0.961and0.945, respectively. The PT/NBL ratio was stable throughout gestation, with a mean of0.70.
3. No cases with a negative FPL were found in all of fetuses. Most commonly seen was an FPL with position zero(92.26%). The FPL was positive in up to7.74%, and the mean F distance was0.24cm(range,0.10-0.51cm).
4. Using GA as the independent variable and the facial angles as the dependent variables, the best fit regressing equation was FMF(°)=135.300-6.473×GA+0.235xGA2-0.003xGA3(R2=0.240, P=0.000); FNA(°)=58.920+7.452×GA-0.274xGA2-0.003xGA3(R2=0.297, P=0.000); MMF(°)=132.329-5.337xGA+0.191xGA2-0.002xGA3(R2=0.304, P=0.000); MNM(°)=-24.592+4.653xGA-0.173xGA2+0.002xGA3(R2=0.413, P=0.000).The Pearson's correlation coefficient between FMF, FNA, MMF and MNM with GA were-0.369,0.447,-0.470and0.386, respectively.
Conclusion
1.Three dimensional ultrasound evaluation the fetal facial profile had an excellent reliability.
2.NBL and PT were highly correlated with GA, PT/NBL ratio was stable throughout gestation.
3. No cases with a negative FPL were found in normal fetuses.
4.The growing patterns of fetal facial angles fitted with a cubic polynomial function.
Objective
To investigate the characteristics of facial profile in chromosomally abnormal fetuses, and to determine its diagnostic value for genetic disorder.
Methods
In a retrospective study, the stored images from March2008to January2013were reviewed for the comparison of the facial profile between26pathologic fetuses with21trisomy-21and5trisomy-18(study group) with325normal fetuses selected randomly (control group).
We evaluate a number of indicators of facial profile in the mid-sagittal plane:1.measurements of nasal bone length (NBL) and prenasal thickness (PT) were obtained, then calculate the PT/NBL ratio;2. facial profile line (FPL) was defined as'zero','negative'or'positive', repectively. When the FPL was'positive'the F distance between the FPL and the frontal bone wea measured.3.confirm the definition of frontomaxillary angle (FMF), frontonasal angle (FNA). mandibulomaxillary angle (MMF), maxilla-nasion-mandible angle (MNM).
These indicators of each case were measured and compared with the ones of normal fetuses.The diagnostic value of the indicators were examined.
Results1、trisomy21
There were21trisomy21,11fetuses had absent nasal bone, while there was no significant difference between the other10trisomy21with the normal fetuses (P>0.05).In the trisomy21fetuses the mean PT and PT/NBL ratio were5.67mm and1.21respectively, which were significantly larger than in normal fetuses, with the mean of PT and PT/NBL ratio were4.21mm and0.69, respectively (P<0.05).The PT was above the95th percentile in76.2%(16/21)of the trisomy21fetuses.
14cases of trisomy21showed the FPL'zero', and3cases were positive FPL with the F distance from0.23cm to0.55cm.3cases with sloping forehead with negative FPL.
Among trisomy21,20of21(95.2%)FMF angle was larger than the mean of the normal range, and38.1%(8/21) of FMF was above the95th percentile of the normal fetuses;18of21(85.7%)MNM angle was smaller than the mean of the normal range.
2、Trisomy18
In the5fetuses with trisomy18, the NBL, PT and PT/NBL ratio were not significantly different from normal.
There was no cases showed positive FPL.2cases showed FPL 'zero', and3cases with micrognathia had negative FPL.
There were significant difference in the MMF and MNM angles between the trisomy18fetuses and normal fetuses.In trisomy18fetuses, all of the5cases had smaller MMF angel and larger MNM angle than normal ones. The MMF angle was below the5th percentile in40%(2/5) of the trisomy18fetuses, and the MNM angle was above the95th percentile in40%(2/5) of the trisomy18ones.
Conclusion
1.Facial midsagittal plane may contribute to prenatal detection of chromosomal abnormality and need to be routinely examined during second-trimester screening.
2.The NBL and PT measurement can be used to screen trisomy21in second trimester. Measurement of the FMF and MNM angles is likely to prove a useful method in prenatal screening for trisomy21in the second trimester.
3.MMF and MNM angle are helpful for detection of micorgnathia, which is commonly associated with trisomy18.
4. The FPL may be a useful tool to detect second trimester profile anomalies such as sloping forehead and micrognathia.
应用二维及三维超声测量多个颜面相关指标评估胎儿颜面轮廓,并比较两种方法的测量稳定性,对初步建立中国人群正常胎儿的颜面轮廓生长发育趋势进行尝试性研究。
资料与方法
2013年4月-2014年2月期间于我院进行产科超声检查的孕11周～38周孕妇共439例。
联合评估胎儿颜面轮廓的各项指标：1.确定测量切面即颜面正中矢状面的标志性结构；2.测量鼻骨长度(nasal bone length,NBL)、鼻前组织厚度(prenasal thi-ckness,PT),并计算PT/NBL；3.确定颜面轮廓线(facial profile line,FPL)的三种分型,即零,阴性和阳性,阳性时测量FPL到额骨外缘的距离F；4.规范各颜面角度如额-上颌角(frontomaxillary facial angle,FMF)、额-鼻角(frontonasal angle,FNA)、上下颌面角(mandibulomaxillary facial angle,MMF)、上颌-鼻根-下颌角(maxilla-nasion-mandible angle, MNM)的定义。
在最先获取的100个样本中随机抽取30例进行二维和三维之间的测量一致性分析；并对两种方法在不同测量者间,及同一测量者内的不同次测量间,进行测量稳定性的分析。
选取稳定性良好且操作简单的方法进行所有胎儿颜面结构的测量。建立初步的胎儿颜面轮廓发育趋势,并分析颜面轮廓与孕周(gestational age,GA)的关系。
结果
1、一致性分析：30例样本均分析NBL、PT、PT/NBL、FMF、FNA、MMF和MNM,上述各测量指标二维与三维测量方法的组内相关系数(intra-class correlationcoefficient,ICC)分别为0.984、0.985、0.751、0.780、0.838、0.760、0.729；二维超声在同一测量者不同次测量之间的ICC分别为0.994、0.994、0.741、0.891、0.963、0.887、0.954；二维超声在不同测量者间的ICC分别为0.982、0.890、0.708、0.815、0.903、0.811、0.917：三维超声在同一测量者不同次测量之间的ICC分别为0.997、0.996、0.878、0.968、0.962、0.974、0.988；三维超声在不同测量者间的ICC分别为0.994、0.991、0.746、0.948、0.905、0.874、0.889。对于FPL,二维及三维方法评估显示分类结果一致。
2、胎儿NBL与PT随孕周而增大,其关系方程式符合S曲线,方程分别为：NBL=e3.097-30.563/GA, PT=e2.703-30.093/GA;PT/NBL在整个孕周保持稳定,平均值为0.70。
3、正常胎儿FPL无“阴性”结果。多数结果为“零”,占92.26%,“阳性”结果占7.74%,集中在11-13周及26-38周,“阳性”时测量F值范围0.10-0.51cm(0.24±0.10cm)。
4、胎儿各颜面角度发育与孕周相关,关系方程式均符合三次多项式：FMF角与孕周呈负相关,方程式：FMF角=135.300-6.473×GA+0.235×GA2-0.003×GA3(R2=0.240,P=0.000)；FNA与孕周呈正相关,方程式：FNA=58.920+7.452xGA-0.274×GA2-0.003×GA3(R2=0.297, P=0.000); MMF角与孕周呈负相关,方程式：MMF=132.329-5.337xGA+0.191×GA2-0.002xGA3(R2=0.304, P=0.000);MNM角与孕周呈正相关,方程式：MNM=-24.592+4.653×GA-0.173×GA2+0.002xGA3(R2=0.413,P=0.000)。
结论
1、对颜面轮廓各指标定义进行规范后,三维超声评估胎儿颜面轮廓的观察者内及观察者间一致性较好,临床应用中具有明显优势
2、胎儿鼻骨长度及鼻前组织厚度与孕周密切相关,随孕周呈S曲线增长,鼻前组织厚度与鼻骨长度之比在整个孕周保持稳定
3、正常胎儿颜面轮廓线无“阴性”表现
4、胎儿颜面角度变化与孕周相关,曲线拟合三次多项式相关程度最高
目的
回顾分析染色体异常胎儿颜面轮廓的特点,评估颜面轮廓相关指标对染色体异常的提示价值
资料与方法
病例组选取2008年3月-2013年1月期间于我院进行产科超声检查并有明确染色体结果的胎儿共26例,其中21-三体21例,18-三体5例。对照组随机选取正常胎儿325例。
回顾分析胎儿颜面正中矢状面图像,联合评估颜面轮廓的各项指标：1..测量鼻骨长度(nasal bone length, NBL)、鼻前组织厚度(prenasal thickness,PT),并计算PT/NBL；2.确定颜面轮廓线(facial profile line,FPL)的三种分型,即零,阴性和阳性,阳性时测量FPL到额骨外缘的距离F；3.规范各颜面角度如额-上颌角(frontomaxillary facial angle,FMF)、额-鼻角(frontonasal angle,FNA)、上下颌面角(]mandibulomaxillary facial angle,MMF)、上颌-鼻根-下颌角(maxilla-nasion-mandible angle,MNM)的定义。
将上述颜面轮廓的各相关指标与对照组正常胎儿各参考值范围进行对比分析,评估染色体异常胎儿与正常胎儿之间的差异。
结果
1、21-三体胎儿
21例21-三体胎儿中,11例鼻骨缺失,余10例胎儿的NBL与对照组正常胎儿无明显差异(P>0.05)。21-三体胎儿PT明显增厚,平均值为5.67mm,与正常胎儿的平均值4.21mm存在显著差异(P<0.05),并且76.2%(16/21)高于正常胎儿第95百分位数。存在鼻骨的10例21-三体胎儿计算PT/NBL,平均值为1.21,明显大于正常胎儿的平均值0.69(P<0.05)。
21-三体胎儿FPL14例为“零”,4例“阳性”(F值0.23-0.55cm),3例“阴性”。3例FPL“阴性”的胎儿存在前额扁平。
21-三体胎儿与正常胎儿在FMF角与MNM角之间存在显著差异(P<0.05)。在21-三体胎儿中,95.2%(20/21)的FMF角大于正常胎儿的平均值,38.1%(8/21)大于正常胎儿的第95百分位数；85.7%(18/21)的MNM角小于正常胎儿的平均值。
2、18-三体胎儿5例18-三体胎儿中,NBL、PT及PT/NBL与正常胎儿无明显差异(P>0.05)。18-三体胎儿2例FPL为“零”,3例“阴性”,无“阳性”结果。3例FPL“阴性”的胎儿均存在小下颌。
18-三体胎儿与正常胎儿在MMF角与MNM角之间存在显著差异(P<0.05)。在18-三体胎儿中,100%(5/5)的MMF角小于正常胎儿的平均值,40%小于正常胎儿的第5百分位数；100%(5/5)的MNM角大于正常胎儿的平均值,40%大于正常胎儿的第95百分位数。
结论
1、颜面正中矢状面可为筛查胎儿染色体异常提供多个信息,该切面应作为中孕超声筛查的常规内容
2、鼻骨及鼻前组织厚度的测量对于21-三体的筛查意义明确,FMF及MNM角有助于提示颜面扁平,可作为筛查21-三体的辅助超声标记
3、MMF及MNM角可提示小下颌,对诊断18-三体具有一定意义
4、FPL可初步判断胎儿前额及下颌异常
Objective
To evaluate some ultrasound markers of the fetal facial profile with two-dimensional and three dimensional ultrasound, and to compare the reliability of both of the two methods. To construct a preliminary reference of normal fetal facial profile in Chinese population.
Methods
From2013April to2014February,439singleton fetuses ranged between11and38weeks of gestation were enrolled in this study.
The indicators of facial profile were defined:1.confirm the details of mid-sagittal plane of facial profile;2.measurements of nasal bone length (NBL) and prenasal thickness (PT) were obtained, then calculate the PT/NBL ratio;3. facial profile line (FPL) was defined as'zero','negative'or'positive', repectively. When the FPL was'positive' the F distance between the FPL and the frontal bone wea measured.4.confirm the definition of frontomaxillary angle (FMF), frontonasal angle (FNA), mandibulomaxillary angle (MMF), maxilla-nasion-mandible angle (MNM).
The intra-and interobserver reliability of different sonographic methods was calculated in30cases.
Three dimensional(3D) ultrasonographic method was used for its good reliability and convenience to evaluate fetal facial profile of all enrolled fetuses.Pearson's correlation coefficient, curve estimation and polynomial regression models were used to evaluate the correlation of the indicators of fetal facial profile with gestational age (GA).
Results
1. As to NBL, PT, PT/NBL, FMF, FNA, MMF, MNM, intra-class correlation coefficient(ICC)between2D and3D wereO.984、0.985、0.751、0.780、0.838、0.760and0.729, respectively. Intraobserver ICC of2Dwere0.994、0.994、0.741、0.891、0.963、0.887and0.954, respectively. Interobserver ICC of2D wereO.982、0.890、0.708、0.815、0.903、0.811and0.917, respectively. Intraobserver ICC of3D were0.997、0.996、0.878、0.968、0.962、0.974and0.988, respectively. Interobserver ICC of3D wereO.994、0.991、 0.746、0.948、0.905、0.874and0.889, respectively.Either2D or3D method, the same classification on result of FPL was shown to prove the consistency of the two methods is good.
2. Using GA as the independent variable and NBL and PT as the dependent variables, the best fit regressing equation was NBL=e3097-30.563/GA, PT=e2.703-30.093/GA.The Pearson's correlation coefficient between NBL and PT with GA were0.961and0.945, respectively. The PT/NBL ratio was stable throughout gestation, with a mean of0.70.
3. No cases with a negative FPL were found in all of fetuses. Most commonly seen was an FPL with position zero(92.26%). The FPL was positive in up to7.74%, and the mean F distance was0.24cm(range,0.10-0.51cm).
4. Using GA as the independent variable and the facial angles as the dependent variables, the best fit regressing equation was FMF(°)=135.300-6.473×GA+0.235xGA2-0.003xGA3(R2=0.240, P=0.000); FNA(°)=58.920+7.452×GA-0.274xGA2-0.003xGA3(R2=0.297, P=0.000); MMF(°)=132.329-5.337xGA+0.191xGA2-0.002xGA3(R2=0.304, P=0.000); MNM(°)=-24.592+4.653xGA-0.173xGA2+0.002xGA3(R2=0.413, P=0.000).The Pearson's correlation coefficient between FMF, FNA, MMF and MNM with GA were-0.369,0.447,-0.470and0.386, respectively.
Conclusion
1.Three dimensional ultrasound evaluation the fetal facial profile had an excellent reliability.
2.NBL and PT were highly correlated with GA, PT/NBL ratio was stable throughout gestation.
3. No cases with a negative FPL were found in normal fetuses.
4.The growing patterns of fetal facial angles fitted with a cubic polynomial function.
Objective
To investigate the characteristics of facial profile in chromosomally abnormal fetuses, and to determine its diagnostic value for genetic disorder.
Methods
In a retrospective study, the stored images from March2008to January2013were reviewed for the comparison of the facial profile between26pathologic fetuses with21trisomy-21and5trisomy-18(study group) with325normal fetuses selected randomly (control group).
We evaluate a number of indicators of facial profile in the mid-sagittal plane:1.measurements of nasal bone length (NBL) and prenasal thickness (PT) were obtained, then calculate the PT/NBL ratio;2. facial profile line (FPL) was defined as'zero','negative'or'positive', repectively. When the FPL was'positive'the F distance between the FPL and the frontal bone wea measured.3.confirm the definition of frontomaxillary angle (FMF), frontonasal angle (FNA). mandibulomaxillary angle (MMF), maxilla-nasion-mandible angle (MNM).
These indicators of each case were measured and compared with the ones of normal fetuses.The diagnostic value of the indicators were examined.
Results1、trisomy21
There were21trisomy21,11fetuses had absent nasal bone, while there was no significant difference between the other10trisomy21with the normal fetuses (P>0.05).In the trisomy21fetuses the mean PT and PT/NBL ratio were5.67mm and1.21respectively, which were significantly larger than in normal fetuses, with the mean of PT and PT/NBL ratio were4.21mm and0.69, respectively (P<0.05).The PT was above the95th percentile in76.2%(16/21)of the trisomy21fetuses.
14cases of trisomy21showed the FPL'zero', and3cases were positive FPL with the F distance from0.23cm to0.55cm.3cases with sloping forehead with negative FPL.
Among trisomy21,20of21(95.2%)FMF angle was larger than the mean of the normal range, and38.1%(8/21) of FMF was above the95th percentile of the normal fetuses;18of21(85.7%)MNM angle was smaller than the mean of the normal range.
2、Trisomy18
In the5fetuses with trisomy18, the NBL, PT and PT/NBL ratio were not significantly different from normal.
There was no cases showed positive FPL.2cases showed FPL 'zero', and3cases with micrognathia had negative FPL.
There were significant difference in the MMF and MNM angles between the trisomy18fetuses and normal fetuses.In trisomy18fetuses, all of the5cases had smaller MMF angel and larger MNM angle than normal ones. The MMF angle was below the5th percentile in40%(2/5) of the trisomy18fetuses, and the MNM angle was above the95th percentile in40%(2/5) of the trisomy18ones.
Conclusion
1.Facial midsagittal plane may contribute to prenatal detection of chromosomal abnormality and need to be routinely examined during second-trimester screening.
2.The NBL and PT measurement can be used to screen trisomy21in second trimester. Measurement of the FMF and MNM angles is likely to prove a useful method in prenatal screening for trisomy21in the second trimester.
3.MMF and MNM angle are helpful for detection of micorgnathia, which is commonly associated with trisomy18.
4. The FPL may be a useful tool to detect second trimester profile anomalies such as sloping forehead and micrognathia.
引文
1. Goldstein I, Tamir A, Weiner Z, et al. Dimensions of the fetal facial profile in normal pregnancy [J].Ultrasound Obstet Gynecol,2010,35(2):191-194.
2.欧阳云淑,孟华,姜玉新等.产前超声评估胎儿颜面轮廓及相关遗传学疾病[J].中国医学影像技术,2012,28(12)：103-106.
3. T.Dagklis, M.Borenstein, C.F.A.Peralta, et al. Three-dimensional evaluation of mid-facial hypoplasia in fetuses with trisomy 21 at 11+0 to 13+6 weeks of gestation [J].Ultrasound Obstet Gynecol,2006,28(3):261-265.
4. Farkas LG, Katie MJ, Forrest CR, et al. Surface anatomy of the face in Down's syndrome:linear and angular measurements in the craniofacial regions [J].J Craniofac Surg,2001,12(4):373-379.
5. Shapira J, Chaushu S, Becker A. Prevalence of tooth transposition, third molar agenesis, and maxillary canine impaction in individuals with Down syndrome [J].Angle Orthod,2000,70(4):290-296.
6. Sonek J, Borenstein M, Dagklis T, et al. Frontomaxillary facial angle in fetuses with trisomy 21 at 11-13(6) weeks [J].Am J Obstet Gynecol,2007,196:271.el-e4.
7. Borenstein M, Persico N, Kagan KO, et al. Frontomaxillary facial angle in screening for trisomy 21 at 11+0 to 13+6 weeks [J].Ultrasound Obstet Gynecol,2008,32(1): 5-11.
8. Rotten D, Levaillant JM, Martinez H, et al. The fetal mandible:a 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia [J]. Ultrasound Obstet Gynecol,2002,19(2):122-130.
9. Turner GM, Twining P. The fetal profile in the diagnosis of fetal abnormalities[J]. Clin Radiol,1993,47(6):389-395.
10. Bromley B, Benacerraf BR. Fetal micrognathia:associated anomalies and outcome [J].J Ultrasound Med,1994,13(7):529-533.
11. Chitty LS, Campbell S, Altman DG. Measurement of the fetal mandible:feasibility and construction of a centile chart[J]. Prenat Diagn,1993,13(8):749-756.
12. Tsai MY, Lan KC, Ou CY, et al. Assessment of the facial feature and chin development of fetuses with use of serial three-dimensional sonography and the mandibular size monogram in a Chinese population[J]. Am J Obstet Gynecol,2004, 190(2):541-546.
13. Zalel Y, Gindes L, Achiron R. The fetal mandible:an in utero sonographic evaluation between 11 and 31 weeks'gestation[J].Prenat Diagn,2006,26(2):163-167.
14. E.A.P.DE JONG-PLEIJ, L.S.M.RIBBERT, G.T.R.MANTEN, et al. Maxilla-nasion-mandible angle:a new method to assess profile anomalies in pregnancy[J]. Ultrasound Obstet Gynecol,2011,37(5):562-569.
15. Persico N, Borenstein M, Molina F, et al. Prenasal thickness in trisomy-21 fetuses at 16-24 weeks of gestation[J]. Ultrasound Obstet Gynecol,2008,32(6):751-754.
16. Ron Maymon, Orna Levinsohn-Tavor, Howard Cuckle, et al. Second trimester ultrasound prenasal thickness combined with nasal bone lenght:a new method of Down syndrome screening[J].Prenat Diagn,2005,25(10):906-911.
17. Elisabeth A.P, Lucia S.M, Lou R, et al. The fetal profile line:a proposal for a sonographic reference line to calssify forehead and mandible anomalies in the second and third trimester [J]. Prenat Diagn,2012,32(8):797-802.
18. Rembouskos G, Cicero S, Longo D, et al. Assessment of the fetal nasal bone at 11-14 weeks of gestation by three-dimensional ultrasound[J]. Ultrasound Obstet Gynecol,2004,23(3):232-236.
19. Jennifer Alphonse, Jennifer Cox, Jill Clarke, et al. Comparison of frontomaxillary facial angles using both 2D and 3D ultrasound at 11+0 to 13+6 weeks of gestation [J]. Fetal Diagn Ther,2010,28(1):14-21.
20. Panigassi AP, Araujo Junior E, Nardozza LM, et al. Fetal frontomaxillary facial angle between 11 and 13+6 weeks of gestation in a Brazilian population:influence of different races[J]. J Matern Fetal Neonatal Med,2013,26(11):1116-1120.
21. Sun Rye Jeon, Hyung Min Choi, Young Ho Roh, et al. Frontomaxillary facial angle measurements in euploid Korean fetuses at 11 weeks'to 13 weeks 6 days 'gestation[J].J Ultrasound Med,2010,29(11):1565-1571.
22. J.D.Sonek, D.Mckenna, D.Webb, et al. Nasal bone length throughout gestation: normal ranges based on 3537 fetal ultrasound measurements [J].Ultrasound Obstet Gynecol,2003,21(2):152-155.
23. Chen M, Wang HF, Leung TY, et al. Frontomaxillary facial angle at 11+0 to 13+6 weeks in Chinese population [J].J Matern Fetal Neonatal Med,2011,24(3): 498-501.
24. Chen M, Yang X, Leung TY, et al.Study on the applicability of frontomaxillary facial angle in the first-trimester trisomy 21 fetuses in Chinese population[J]. Prenat Diagn,2009,29(12):1131-1144.
1. Goldstein I, Tamir A, Weiner Z, et al. Dimensions of the fetal facial profile in normal pregnancy[J].Ultrasound Obstet Gynecol,2010,35(2):191-194.
2. Jennifer Alphonse, Jennifer Cox, Jill Clarke, et al. Comparison of frontomaxillary facial angles using both 2D and 3D ultrasound at 11+0 to 13+6 weeks of gestation[J]. Fetal Diagn Ther,2010,28(1):14-21.
3. Panigassi AP, Araujo Junior E, Nardozza LM, et al. Fetal frontomaxillary facial angle between 11 and 13+6 weeks of gestation in a Brazilian population:influence of different races[J]. J Matern Fetal Neonatal Med,2013,26(11):1116-1120.
4. Sun Rye Jeon, Hyung Min Choi, Young Ho Roh, et al. Frontomaxillary facial angle measurements in euploid Korean fetuses at 11 weeks'to 13 weeks 6 days 'gestation[J].J Ultrasound Med,2010,29(11):1565-1571.
5.李胜利,陈琮瑛,刘菊玲,等.胎儿颜面部超声解剖成像研究[J].临床超声医学杂志,2003,5(6)：321-326.
6. Hyun Sun Ko, U-Young Lee, Sae Kyung Choi.Craniofacial inclination at 14 to 39 weeks'gestation in normal Korean fetuses[J].J Ultrasound Med,2012,31():569-576.
7. Sonek J, Mckenna, Webb, et al. Nasal bone length throughout gestation:normal ranges based on 3537 fetal ultrasound measurements [J].Ultrasound Obstet Gynecol, 2003,21(2):152-155.
8. Persico N, Borenstein M, Molna F, et al.Prenasal thickness in trisomy-21 fetuses at 16-24 weeks of gestation[J].Ultrasound Obstet Gynecol,2008,32(6):751-754.
9. Elisabeth A.P, Lucia S.M, Lou R, et al. The fetal profile line:a proposal for a sonographic reference line to calssify forehead and mandible anomalies in the second and third trimester[J]. Prenat Diagn,2012,32(8):797-802.
10. Ana P.N.P, Edward A.J, Luciano M.M.N, et al.Feta frontomaxillary facial angle between 11 and 13+6 weeks of gestation in a Brazilian population:influence of different races [J]. J Matern Feta Neonatal Med,2013, early online:1-5.
11. Chen M, Wang HF, Leung TY, et al. Frontomaxillary facial angle at 11+0 to 13+6 weeks in Chinese population[J].J Matern Fetal Neonatal Med,2011,24(3): 498-501.
12. Plasencia W, Dagklis T, Sotiriadis A, et al. Frontomaxillary facial angle at 11+0 to 13+6 weeks'gestation-reproducibility of measurements [J].Ultrasound Obstet Gynecol,2007,29(1):18-21.
13. Jennifer Alphonse, Jennifer Cox, Jillian L Clarke, et al. Frontomaxillary facial angle measurement at 11-14 weeks:assessment of interobserver and intraobserver agreement in 2D and 3D imaging[J]. Fetal Diagn Ther,2013,34(2):90-95.
14. Borenstein M, Persico N, Kaihura C, et al.Frontomaxillary facial angle in chromosomally normal fetuses at 11+0 to 13+6 weeks [J].Ultrasound Obstet Gynecol,2007,30:737-741.
15.欧阳云淑,张一休,孟华,等.第11～13周胎儿额上颌角的二维及三维超声测量[J].中国医学影像技术,2009,25(10)：1837-1840.
16. F.I.VOS, E.A.P.DE JONG-PLEIJ, L.S.M.RIBBERT, et al.Three-dimensional ultrasound imaging and measurement of nasal bone length, prenasal thickness and frontmaxillary facial angle in normal second-and third-trimester fetuses[J].Ultrasound Obstet Gynecol,2012,39(7):636-641.
17. Odibo AO, Schoenborn JA, Kimberly Haas, et al.Does the combination of fronto-maxillary facial angle and nasal bone evaluation improve the detection of Down syndrome in the second trimester [J]? Prenat Diagn,2009,29(10):947-951.
18. E.A.P.DE JONG-PLEIJ, L.S.M.RIBBERT, GT.R.MANTEN, et al. Maxilla-nasion-mandible angle:a new method to assess profile anomalies in pregnancy[J], Ultrasound Obstet Gynecol,2011,37(5):562-569.
19. Guis F, Ville Y, Vincent Y, et al. Ultrasound evaluation of the length of the nasal bones throughout gestation[J]. Ultrasound Obstet Gynecol,1995,5(5):304-307.
20. Ron Maymon, Orna Levinsohn-Tavor, Howard Cuckle, et al. Second trimester ultrasound prenasal thickness combined with nasal bone lenght:a new method of Down syndrome screening[J]. Prenat Diagn,2005,25(10):906-911.
21. E.A.P.DE JONG-PLEIJ, F.I.VOS, L.S.M.RIBBERT, et al. Prenasal thickness-to-nasal bone length ratio:a strong and simple second- and third-trimester marker for trisomy 21[J].Ultrasound Obstet Gynecol,2012,39(2):185-190.
22. Xin yang, Li zhen, Min pan, et al.PT/NBL ratio at mid-trimester in prenatal screening for Down syndrome in a Chinese population[J]J Matern Fetal Neonatal Med,2014, early online.
23. Persico N, Molna F, Borenstein M, et al.Nasal bone length in euploid fetuses at 16-24 weeks'gestation by three-dimensional ultrasound[J].Ultrasound Obstet Gynecol,2010,36(3):285-290.
24. Rembouskos G, Cicero S, Longo D, et al. Assessment of the fetal nasal bone at 11-14 weeks of gestation by three-dimensional ultrasound[J]. Ultrasound Obstet Gynecol, 2004,23(3):232-236.
25. E.A.P.DE JONG-PLEIJ, L.S.M.RIBBERT, E.TROMP, et al. Three-dimensional multiplanar ultrasound is a valuable tool in the study of the fetal profile in the second trimester of pregnancy [J]. Ultrasound Obstet Gynecol,2010,35(2):562-569.
26. Sandikcioglu M. Molsted K, Kjaer I.The prenatal development of the human nasal and volemar bone.J Craniofac Genet Dev Biol,1994,14:124-134.
27. Nicolaides KH, Spencer K, Avgidou K, et al. Multicenter study of first-trimester screening for trisomy 21 in 75821 pregnancies:results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol,2005,25(3):221-226.
28. Cuckle H, Benn P, Wright D. Down syndrome screening in the first and/or second trimester:model predicted performance using meta-analysis parameters. Semin Perinatol,2005,29(6):252-7.
29. Opperman LE.Cranial sutures as intramembranous bone growth sites[J].Dev Dyn 2000,219(4):472-485.
30. Cohen MM Jr.Malformations of the craniofacial region:evolutionary, embryonic,genetic,and clinical perspectives[J],Am J Med Genet 2002,115(4): 245-268.
31.张维建,房金香.上颌骨及下颌骨的胚胎发育[J].临沂医专学报,2000,22(3)：161-162.
32.张维建,张岩,吴蓉,等.胎儿额骨及枕骨的发育[J].临沂医专学报,1997,19(1)： 7-9.
33. Trenouth MJ.Shape changes during human fetal craniofacial growth[J].J Anat.1984, 139:639-651.
34. Rotten D, Levaillant JM, Martinez H, et al. The fetal mandible:a 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia[J]. Ultrasound Obstet Gynecol,2002,19(2):122-130.
35. Paladini D, Morra T, Teodoro A, et al. Objective diagnosis of micrognathia in the fetus:the Jaw Index[J]. Obstet Gynecol,1999,93(3):382-386.
36. Sonek J, Borenstein M, Dagklis T, et al. Frontomaxillary facial angle in fetuses with trisomy 21 at 11-13(6) weeks[J].Am J Obstet Gynecol,2007,196:271.el-e4.
1. 姜立新,吕国荣,陈晓康.二维超声诊断胎儿颜面部畸形30例[J].中国医学影像学杂志,2003,11(4)：304.
2.周旋.三维超声成像诊断胎儿颜面部畸形及影响成像的因素分析[J].广西医学,2010,32(10)：44-46.
3. Goldstein I, Tamir A, Weiner Z, et al. Dimensions of the fetal facial profile in normal pregnancy[J]. Ultrasound Obstet Gynecol,2010,35(2):191-194.
4. Down LJ. Observations on an ethnic classification of idiots [J]. Clinical Lectures and Reports, London Hospital 1866,3:259-262.
5. Cicero S, Curcio P, Papageorghiou A, et al. Absence of nasal bone in fetuseswith trisomy 21 at 11-14 weeks of gestation: an observational study [J]. Lancet,2001, 358(9294):1665-1667.
6. Cicero S, Sonek J, McKenna D, et al, Nicolaides K. Nasal bone hypoplasia in fetuses with Trisomy 21 [J]. Ultrasound Obstet Gynecol,2003,21(1):15-18.
7. Cicero S, Avgidou K, Rembouskos G, et al. Nasal bone in first-trimester screening for trisomy 21[J]. Am J Obstet Gynecol,2006,195(1):109-114.
8. Sonek JD, Cicero S, Neiger R, et al. Nasal bone assessment in prenatal screening for trisomy 21 [J]. Am J Obstet Gynecol,2006,195(5):1219-1230.
9. Rembouskos G, Cicero S, Longo D, et al. Assessment of the fetal nasal bone at 11-14 weeks of gestation by three-dimensional ultrasound[J]. Ultrasound Obstet Gynecol, 2004,23(3):232-236.
10. Persico N, Borenstein M, Molina F, et al.Prenasal thickness in trisomy 21 fetuses at 16-24 weeks of gestation[J]. Ultrasound Obstet Gynecol,2008,32(6): 751-754.
11. De Jong-Pleij EA, Vos FI, Ribbert LS, et al.Prenasal thickness-to-nasal bone length ratio:a strong and simple second- and third-trimester marker for trisomy 21 [J]. Ultrasound Obstet Gynecol, 2012,39(2):185-190.
12. Cicero S, Curcio P, Rembouskos G.Maxillary length at 11-14 weeks of gestation in fetuses with trisomy 21 [J].Ultraound Obstet Gynecol,2004,24(1):19-22.
13. Sonek J, Borenstein M, Dagklis T, et al. Frontomaxillary facial angle in fetuses with trisomy 21 at 11-13(6) weeks[J].Am J Obstet Gynecol,2007,196:271.el-e4.
14. Borenstein M, Persico N, Kagan KO, et al. Frontomaxillary facial angle in screening for trisomy 21 at 11+0 to 13+6 weeks[J].Ultrasound Obstet Gynecol,2008,32(1): 5-11.
15. Molina F, Persico N, Borenstein M, et al. Frontomaxillary facial angle in trisomy-21 fetuses at 16-24 weeks of gestation[J]. Ultrasound Obstet Gynecol,2008,31(4): 384-387.
16. Borenstein M, Persico N, Strobl I, et al.Frontomaxillary and mandibulomaxillary facial angles at 11+0 to 13+6 weeks in fetuses with trisomy 18 [J].Ultrasound Obstet Gynecol,2007,30(7):928-933.
17. E.A.P.DE Jong-Pleij, L.S.M.Rebert, G.T.R.Manten, et al. Maxilla-nasion-mandible angle:a new method to assess profile anomalies in pregnancy [J]. Ultrasound Obstet Gynecol,2011,37(5):562-569.
18. Vicario R, Pirollo LM, De Angelis C, et al.Frontonasal facial angle in chromosomally normal fetuses at 11+0 to 13+6 weeks[J].J Obstet Gynaecol Res.2010,36(6):1179-1184.
19. Hyun Sun Ko, U-Young Lee, Sae Kyung Choi.Craniofacial inclination at 14 to 39 weeks'gestation in normal Korean fetuses[J].J Ultrasound Med,2012,31(4): 569-576.
20. Elisabeth A.P, Lucia S.M, Lou R, et al. The fetal profile line:a proposal for a sonographic reference line to calssify forehead and mandible anomalies in the second and third trimester [J]. Prenat Diagn,2012,32(8):797-802.
1. Goldstein I, Tamir A, Weiner Z, et al. Dimensions of the fetal facial profile in normal pregnancy[J].Ultrasound Obstet Gynecol,2010,35(2):191-194.
2. Opperman LE.Cranial sutures as intramembranous bone growth sites[J].Dev Dyn 2000,219(4):472-485.
3. Cohen MM Jr.Malformations of the craniofacial region:evolutionary, embryonic,genetic,and clinical perspectives[J].Am J Med Genet 2002,115(4): 245-268.
4.张维健,张岩,吴蓉,等.胎儿额骨及枕骨的发育.临沂医专学报[J],1997,19(1)：7-9.
5. Faro C, Benoit B, Wegrzyn P, Chaoui R, Nicolaides KH. Three-dimensional sonographic description of the fetal frontal bones and metopic suture[J]. Ultrasound Obstet Gynecol,2005,26(6):618-621.
6. Goldstein I, Reece EA, Gianluigi P, O'Connor TZ, Lockwood CJ, Hobbins JC. Sonographic assessment of the fetal frontal lobe:A potential tool for prenatal diagnosis of microcephaly [J]. Am J Obstet Gynecol,1988,158(5):1057-1062.
7. Bekdache GN, Begum M, Al-Gazali L,Prenatal diagnosis of thanatophoric dysplasia and obstetrical challenges[J]. J Obstet Gynaecol.2010;30(6):628-30.
8. Chen CP, et al. Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders:a review[J]. Taiwan J Obstet Gynecol.2012 Mar;51(1):12-7.
9. Down LJ. Observations on an ethnic classification of idiots[J]. Clinical Lectures and Reports, London Hospital 1866,3:259-262
10. Hangge PT, Cnota JF, Woo JG,Microcephaly is associated with early adverse neurologic outcomes in hypoplastic left heart syndrome [J]. Pediatr Res.2013 Jul;74(1):61-7.
11. Trenouth MJ.Shape changes during human fetal craniofacial growth[J].J Anat.1984, 139:639-651
12. Burdi AR, Spyropoulos MN.Prenatal growth patterns of the human mandible and massetercomplex[J].Am J Orthod.1978,74:380-387.
13. Farkas LG,Katic MJ,Forrest CR.Surface anatomy of the face in Downs' syndrome:linear and angular measurements in the craniofacial regions[J].J Craniofac Surg,2001,12(4):373-379.
14. Shapira J,Chaushu S,Becker A.Prevalence of tooth transpositon,third molar agenesis,and maxillary canine impaction in individuals with Down syndrome[J].Angle Orthod 2000,70(4):290-296.
15. Cicero S,Curcio P,Rembouskos G.Maxillary length at 11-14 weeks of gestation in fetuses with trisomy 21[J].Ultraound Obstet Gynecol,2004(1),24:19-22.
16. Sonek J, Borenstein M, Dagklis T, et al. Frontomaxillary facial angle in fetuses with trisomy 21 at 11-13(6) weeks [J].Am J Obstet Gynecol,2007,196:271.el-e4.
17. Borenstein.M, Persico.N, Dagklis.T, et al.Frontomaxillary facial anle in fetuses with trisomy 13 at 11+0 to 13+6 weeks[J].Ultraound Obstet Gynecol,2007,30(6):819-823
18. Paladini D, Morra T, Teodoro A, Lamberti A, Tremolaterra F, Martinelli P. Objective diagnosis of micrognathia in the fetus:the Jaw Index[J]. Obstet Gynecol,1999, 93(3):382-386.
19. Rotten D, Levaillant JM, Martinez H, et al. The fetal mandible:a 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia[J]. Ultrasound Obstet Gynecol,2002,19(2):122-130.
20. Sandikcioglu K, Molsted K, Kjaer I.The prenatal development of the human nasal and vomeral bones[J].J Craniofac Genet Dev Biol.1994,14(2):124-234
21. Tuxen A, Keeling JW, Reintoft I, Fischer HB, Nolting D, Kjaer I. A histological and radiological investigation of the nasal bone in fetuses with Down syndrome[J]. Ultrasound Obstet Gynecol,2003,22(1):22-26.
22. Cicero S, Curcio P, Papageorghiou A, Sonek J, Nicolaides K. Absence of nasal bone in fetuseswith trisomy 21 at 11-14 weeks of gestation:an observational study[J]. Lancet,2001,358(9294):1665-1667.
23. Cicero S, Avgidou K, Rembouskos G, Kagan KO, Nicolaides KH. Nasal bone in first-trimester screening for trisomy 21 [J]. Am J Obstet Gynecol,2006, 195(1):109-114.
24. Maymon R, Levinsohn-Tavor O, Cuckle H, Tovbin Y, Dreazen E, Wiener Y, Herman A. Second trimester ultrasound prenasal thickness combined with nasal bone length: a new method of Down syndrome screening[J]. Prenat Diagn,2005,25(10):906-911.
25. Kaisenberg CS,Krenn V, Ludwig M,et al.Morphological classification of nuchal skin in human fetuses with trisomy 21,18 and 13 at 12-18 weeks and in a trisomy 16 mouse[J].Anat Embryol 1998,197:105-124.
26.李胜利,陈琮瑛,刘菊玲,等.胎儿颜面部超声解剖成像研究.临床超声医学杂志[J].2003,5(6)：321-326.
27. Borenstein M, Persico N, Kagan KO, et al. Frontomaxillary facial angle in screening for trisomy 21 at 11+0 to 13+6 weeks [J].Ultrasound Obstet Gynecol,2008,32(1): 5-11.
28. Molina F, Persico N, Borenstein M, et al. Frontomaxillary facial angle in trisomy-21 fetuses at 16-24 weeks of gestation[J]. Ultrasound Obstet Gynecol,2008,31(4): 384-387.
29. Sun Rye Jeon, Hyung Min Choi, Young Ho Roh, et al. Frontomaxillary facial angle measurements in euploid Korean fetuses at 11 weeks'to 13 weeks 6 days 'gestation[J]. J Ultrasound Med,2010,29(11):1565-1571.
30. Borenstein M, Persico N, Kaihura C, et al.Frontomaxillary facial angle in chromosomally normal fetuses at 11+0 to 13+6 weeks[J].Ultrasound Obstet Gynecol,2007,30(5):737-741.
31. Vicario R, Pirollo LM, De Angelis C, et al.Frontonasal facial angle in chromosomally normal fetuses at 11+0 to 13+6 weeks[J].J Obstet Gynaecol Res.2010,36(6):1179-1184.
32. Hyun Sun Ko, U-Young Lee, Sae Kyung Choi.Craniofacial inclination at 14 to 39 weeks'gestation in normal Korean fetuses[J].J Ultrasound Med,2012,31(4): 569-576.
33. Makhoul IR, Soudack M, Goldstein I, et al.Sonographic biometry of the frontal lobe in normal and growh-restricted neonates[J].Pediatr Res,2004,55(5):877-833.
34. Borenstein M, Persico N, Strobl I, et al.Frontomaxillary and mandibulomaxillary facial angles at 11+0 to 13+6 weeks in fetuses with trisomy 18[J].Ultrasound Obstet Gynecol,2007,30(7):928-933.
35. E.A.P.DEJong-Pleij, L.S.M.Rebert, G.T.R.Manten, et al. Maxilla-nasion-mandible angle:a new method to assess profile anomalies in pregnancy[J]. Ultrasound Obstet Gynecol,2011,37(5):562-569.
36. Vos FI, Jong-Pleij EA, Ribbert LS, Tromp E, Bilardo CM.3D ultrasound imaging and measurement of nasal bone length, prenasal thickness and frontonmaxillary facial angle in normal second and third trimester fetuses [J]. Ultrasound Obstet Gynecol,2012,39(6):636-641.
37. Guis F, Ville Y, Vincent Y, Doumerc S, Pons JC, Frydman R. Ultrasound evaluation of the length of the nasal bones throughout gestation[J]. Ultrasound Obstet Gynecol, 1995,5(5):304-307.
38. Bunduki V, Ruano R, Miguelez J, Yoshizaki CT, Kahhale S, Zugaib M. Fetal nasal bone length:reference range and clinical application in ultrasound screening for trisomy 21[J]. Ultrasound Obstet Gynecol,2003,21(2):156-160.
39. Cusick W, Provenzano J, Sullivan C, Gallousis F, Rodis J. Fetal nasal bone length in euploid and aneuploid fetuses between 11and 20 weeks'gestation:a prospective study[J]. J Ultrasound Med,2004,23(10):1327-1333.
40. Persico N, Molina F, Borenstein M, Azumendi G, Nicolaides KH. Ultrasound Obstet Gynecol. Nasal-bone length in euploid fetuses at 16-24 weeks'gestation by three-dimensional ultrasound[J]. Ultrasound Obstet Gynecol,2010,36(3):285-290.
41. Hung JH, Fu CY, Chen CY, et al.Feta nasal bone length and Down syndrome during the second trimester in a Chinese population[J].J Obstet Gynaecol Res,2008,34(4): 518-523.
42. Kanagawa T, Fukuda H, Kinugasa Y et al. Mid-second trimester measurement of fetal nasal bone length in the Japanese population [J]. J Obstet Gynecol Res,2006, 32(4):403-407.
43. Sonek JD, Cicero S, Neiger R, Nicolaides KH. Nasal bone assessment in prenatal screening for trisomy 21[J]. Am J Obstet Gynecol,2006,195(5):1219-1230.
44. De Jong-Pleij EA, Vos FI, Ribbert LS, Pistorius LR, Tromp E, Bilardo CM.Prenasal thickness-to-nasal bone length ratio:a strong and simple second- and third-trimester marker for trisomy 21 [J]. Ultrasound Obstet Gynecol,2012,39(2):185-190.
45. Elisabeth A.P, Lucia S.M, Lou R, et al. The fetal profile line:a proposal for a sonographic reference line to calssify forehead and mandible anomalies in the second and third trimester [J]. Prenat Diagn,2012,32(8):797-802.
46. Rembouskos G, Cicero S, Longo D, et al. Assessment of the fetal nasal bone at 11-14 weeks of gestation by three-dimensional ultrasound[J]. Ultrasound Obstet Gynecol,2004,23(3):232-236.
47. Dyson RL, Pretorius DH, Budorick NE, et al.Three-dimensional ultrasound in the evaluation of fetal anomalies[J].Ultrasound Obstet Gynecol,2000,16(4):321-328.
2.欧阳云淑,孟华,姜玉新等.产前超声评估胎儿颜面轮廓及相关遗传学疾病[J].中国医学影像技术,2012,28(12)：103-106.
3. T.Dagklis, M.Borenstein, C.F.A.Peralta, et al. Three-dimensional evaluation of mid-facial hypoplasia in fetuses with trisomy 21 at 11+0 to 13+6 weeks of gestation [J].Ultrasound Obstet Gynecol,2006,28(3):261-265.
4. Farkas LG, Katie MJ, Forrest CR, et al. Surface anatomy of the face in Down's syndrome:linear and angular measurements in the craniofacial regions [J].J Craniofac Surg,2001,12(4):373-379.
5. Shapira J, Chaushu S, Becker A. Prevalence of tooth transposition, third molar agenesis, and maxillary canine impaction in individuals with Down syndrome [J].Angle Orthod,2000,70(4):290-296.
6. Sonek J, Borenstein M, Dagklis T, et al. Frontomaxillary facial angle in fetuses with trisomy 21 at 11-13(6) weeks [J].Am J Obstet Gynecol,2007,196:271.el-e4.
7. Borenstein M, Persico N, Kagan KO, et al. Frontomaxillary facial angle in screening for trisomy 21 at 11+0 to 13+6 weeks [J].Ultrasound Obstet Gynecol,2008,32(1): 5-11.
8. Rotten D, Levaillant JM, Martinez H, et al. The fetal mandible:a 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia [J]. Ultrasound Obstet Gynecol,2002,19(2):122-130.
9. Turner GM, Twining P. The fetal profile in the diagnosis of fetal abnormalities[J]. Clin Radiol,1993,47(6):389-395.
10. Bromley B, Benacerraf BR. Fetal micrognathia:associated anomalies and outcome [J].J Ultrasound Med,1994,13(7):529-533.
11. Chitty LS, Campbell S, Altman DG. Measurement of the fetal mandible:feasibility and construction of a centile chart[J]. Prenat Diagn,1993,13(8):749-756.
12. Tsai MY, Lan KC, Ou CY, et al. Assessment of the facial feature and chin development of fetuses with use of serial three-dimensional sonography and the mandibular size monogram in a Chinese population[J]. Am J Obstet Gynecol,2004, 190(2):541-546.
13. Zalel Y, Gindes L, Achiron R. The fetal mandible:an in utero sonographic evaluation between 11 and 31 weeks'gestation[J].Prenat Diagn,2006,26(2):163-167.
14. E.A.P.DE JONG-PLEIJ, L.S.M.RIBBERT, G.T.R.MANTEN, et al. Maxilla-nasion-mandible angle:a new method to assess profile anomalies in pregnancy[J]. Ultrasound Obstet Gynecol,2011,37(5):562-569.
15. Persico N, Borenstein M, Molina F, et al. Prenasal thickness in trisomy-21 fetuses at 16-24 weeks of gestation[J]. Ultrasound Obstet Gynecol,2008,32(6):751-754.
16. Ron Maymon, Orna Levinsohn-Tavor, Howard Cuckle, et al. Second trimester ultrasound prenasal thickness combined with nasal bone lenght:a new method of Down syndrome screening[J].Prenat Diagn,2005,25(10):906-911.
17. Elisabeth A.P, Lucia S.M, Lou R, et al. The fetal profile line:a proposal for a sonographic reference line to calssify forehead and mandible anomalies in the second and third trimester [J]. Prenat Diagn,2012,32(8):797-802.
18. Rembouskos G, Cicero S, Longo D, et al. Assessment of the fetal nasal bone at 11-14 weeks of gestation by three-dimensional ultrasound[J]. Ultrasound Obstet Gynecol,2004,23(3):232-236.
19. Jennifer Alphonse, Jennifer Cox, Jill Clarke, et al. Comparison of frontomaxillary facial angles using both 2D and 3D ultrasound at 11+0 to 13+6 weeks of gestation [J]. Fetal Diagn Ther,2010,28(1):14-21.
20. Panigassi AP, Araujo Junior E, Nardozza LM, et al. Fetal frontomaxillary facial angle between 11 and 13+6 weeks of gestation in a Brazilian population:influence of different races[J]. J Matern Fetal Neonatal Med,2013,26(11):1116-1120.
21. Sun Rye Jeon, Hyung Min Choi, Young Ho Roh, et al. Frontomaxillary facial angle measurements in euploid Korean fetuses at 11 weeks'to 13 weeks 6 days 'gestation[J].J Ultrasound Med,2010,29(11):1565-1571.
22. J.D.Sonek, D.Mckenna, D.Webb, et al. Nasal bone length throughout gestation: normal ranges based on 3537 fetal ultrasound measurements [J].Ultrasound Obstet Gynecol,2003,21(2):152-155.
23. Chen M, Wang HF, Leung TY, et al. Frontomaxillary facial angle at 11+0 to 13+6 weeks in Chinese population [J].J Matern Fetal Neonatal Med,2011,24(3): 498-501.
24. Chen M, Yang X, Leung TY, et al.Study on the applicability of frontomaxillary facial angle in the first-trimester trisomy 21 fetuses in Chinese population[J]. Prenat Diagn,2009,29(12):1131-1144.
1. Goldstein I, Tamir A, Weiner Z, et al. Dimensions of the fetal facial profile in normal pregnancy[J].Ultrasound Obstet Gynecol,2010,35(2):191-194.
2. Jennifer Alphonse, Jennifer Cox, Jill Clarke, et al. Comparison of frontomaxillary facial angles using both 2D and 3D ultrasound at 11+0 to 13+6 weeks of gestation[J]. Fetal Diagn Ther,2010,28(1):14-21.
3. Panigassi AP, Araujo Junior E, Nardozza LM, et al. Fetal frontomaxillary facial angle between 11 and 13+6 weeks of gestation in a Brazilian population:influence of different races[J]. J Matern Fetal Neonatal Med,2013,26(11):1116-1120.
4. Sun Rye Jeon, Hyung Min Choi, Young Ho Roh, et al. Frontomaxillary facial angle measurements in euploid Korean fetuses at 11 weeks'to 13 weeks 6 days 'gestation[J].J Ultrasound Med,2010,29(11):1565-1571.
5.李胜利,陈琮瑛,刘菊玲,等.胎儿颜面部超声解剖成像研究[J].临床超声医学杂志,2003,5(6)：321-326.
6. Hyun Sun Ko, U-Young Lee, Sae Kyung Choi.Craniofacial inclination at 14 to 39 weeks'gestation in normal Korean fetuses[J].J Ultrasound Med,2012,31():569-576.
7. Sonek J, Mckenna, Webb, et al. Nasal bone length throughout gestation:normal ranges based on 3537 fetal ultrasound measurements [J].Ultrasound Obstet Gynecol, 2003,21(2):152-155.
8. Persico N, Borenstein M, Molna F, et al.Prenasal thickness in trisomy-21 fetuses at 16-24 weeks of gestation[J].Ultrasound Obstet Gynecol,2008,32(6):751-754.
9. Elisabeth A.P, Lucia S.M, Lou R, et al. The fetal profile line:a proposal for a sonographic reference line to calssify forehead and mandible anomalies in the second and third trimester[J]. Prenat Diagn,2012,32(8):797-802.
10. Ana P.N.P, Edward A.J, Luciano M.M.N, et al.Feta frontomaxillary facial angle between 11 and 13+6 weeks of gestation in a Brazilian population:influence of different races [J]. J Matern Feta Neonatal Med,2013, early online:1-5.
11. Chen M, Wang HF, Leung TY, et al. Frontomaxillary facial angle at 11+0 to 13+6 weeks in Chinese population[J].J Matern Fetal Neonatal Med,2011,24(3): 498-501.
12. Plasencia W, Dagklis T, Sotiriadis A, et al. Frontomaxillary facial angle at 11+0 to 13+6 weeks'gestation-reproducibility of measurements [J].Ultrasound Obstet Gynecol,2007,29(1):18-21.
13. Jennifer Alphonse, Jennifer Cox, Jillian L Clarke, et al. Frontomaxillary facial angle measurement at 11-14 weeks:assessment of interobserver and intraobserver agreement in 2D and 3D imaging[J]. Fetal Diagn Ther,2013,34(2):90-95.
14. Borenstein M, Persico N, Kaihura C, et al.Frontomaxillary facial angle in chromosomally normal fetuses at 11+0 to 13+6 weeks [J].Ultrasound Obstet Gynecol,2007,30:737-741.
15.欧阳云淑,张一休,孟华,等.第11～13周胎儿额上颌角的二维及三维超声测量[J].中国医学影像技术,2009,25(10)：1837-1840.
16. F.I.VOS, E.A.P.DE JONG-PLEIJ, L.S.M.RIBBERT, et al.Three-dimensional ultrasound imaging and measurement of nasal bone length, prenasal thickness and frontmaxillary facial angle in normal second-and third-trimester fetuses[J].Ultrasound Obstet Gynecol,2012,39(7):636-641.
17. Odibo AO, Schoenborn JA, Kimberly Haas, et al.Does the combination of fronto-maxillary facial angle and nasal bone evaluation improve the detection of Down syndrome in the second trimester [J]? Prenat Diagn,2009,29(10):947-951.
18. E.A.P.DE JONG-PLEIJ, L.S.M.RIBBERT, GT.R.MANTEN, et al. Maxilla-nasion-mandible angle:a new method to assess profile anomalies in pregnancy[J], Ultrasound Obstet Gynecol,2011,37(5):562-569.
19. Guis F, Ville Y, Vincent Y, et al. Ultrasound evaluation of the length of the nasal bones throughout gestation[J]. Ultrasound Obstet Gynecol,1995,5(5):304-307.
20. Ron Maymon, Orna Levinsohn-Tavor, Howard Cuckle, et al. Second trimester ultrasound prenasal thickness combined with nasal bone lenght:a new method of Down syndrome screening[J]. Prenat Diagn,2005,25(10):906-911.
21. E.A.P.DE JONG-PLEIJ, F.I.VOS, L.S.M.RIBBERT, et al. Prenasal thickness-to-nasal bone length ratio:a strong and simple second- and third-trimester marker for trisomy 21[J].Ultrasound Obstet Gynecol,2012,39(2):185-190.
22. Xin yang, Li zhen, Min pan, et al.PT/NBL ratio at mid-trimester in prenatal screening for Down syndrome in a Chinese population[J]J Matern Fetal Neonatal Med,2014, early online.
23. Persico N, Molna F, Borenstein M, et al.Nasal bone length in euploid fetuses at 16-24 weeks'gestation by three-dimensional ultrasound[J].Ultrasound Obstet Gynecol,2010,36(3):285-290.
24. Rembouskos G, Cicero S, Longo D, et al. Assessment of the fetal nasal bone at 11-14 weeks of gestation by three-dimensional ultrasound[J]. Ultrasound Obstet Gynecol, 2004,23(3):232-236.
25. E.A.P.DE JONG-PLEIJ, L.S.M.RIBBERT, E.TROMP, et al. Three-dimensional multiplanar ultrasound is a valuable tool in the study of the fetal profile in the second trimester of pregnancy [J]. Ultrasound Obstet Gynecol,2010,35(2):562-569.
26. Sandikcioglu M. Molsted K, Kjaer I.The prenatal development of the human nasal and volemar bone.J Craniofac Genet Dev Biol,1994,14:124-134.
27. Nicolaides KH, Spencer K, Avgidou K, et al. Multicenter study of first-trimester screening for trisomy 21 in 75821 pregnancies:results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol,2005,25(3):221-226.
28. Cuckle H, Benn P, Wright D. Down syndrome screening in the first and/or second trimester:model predicted performance using meta-analysis parameters. Semin Perinatol,2005,29(6):252-7.
29. Opperman LE.Cranial sutures as intramembranous bone growth sites[J].Dev Dyn 2000,219(4):472-485.
30. Cohen MM Jr.Malformations of the craniofacial region:evolutionary, embryonic,genetic,and clinical perspectives[J],Am J Med Genet 2002,115(4): 245-268.
31.张维建,房金香.上颌骨及下颌骨的胚胎发育[J].临沂医专学报,2000,22(3)：161-162.
32.张维建,张岩,吴蓉,等.胎儿额骨及枕骨的发育[J].临沂医专学报,1997,19(1)： 7-9.
33. Trenouth MJ.Shape changes during human fetal craniofacial growth[J].J Anat.1984, 139:639-651.
34. Rotten D, Levaillant JM, Martinez H, et al. The fetal mandible:a 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia[J]. Ultrasound Obstet Gynecol,2002,19(2):122-130.
35. Paladini D, Morra T, Teodoro A, et al. Objective diagnosis of micrognathia in the fetus:the Jaw Index[J]. Obstet Gynecol,1999,93(3):382-386.
36. Sonek J, Borenstein M, Dagklis T, et al. Frontomaxillary facial angle in fetuses with trisomy 21 at 11-13(6) weeks[J].Am J Obstet Gynecol,2007,196:271.el-e4.
1. 姜立新,吕国荣,陈晓康.二维超声诊断胎儿颜面部畸形30例[J].中国医学影像学杂志,2003,11(4)：304.
2.周旋.三维超声成像诊断胎儿颜面部畸形及影响成像的因素分析[J].广西医学,2010,32(10)：44-46.
3. Goldstein I, Tamir A, Weiner Z, et al. Dimensions of the fetal facial profile in normal pregnancy[J]. Ultrasound Obstet Gynecol,2010,35(2):191-194.
4. Down LJ. Observations on an ethnic classification of idiots [J]. Clinical Lectures and Reports, London Hospital 1866,3:259-262.
5. Cicero S, Curcio P, Papageorghiou A, et al. Absence of nasal bone in fetuseswith trisomy 21 at 11-14 weeks of gestation: an observational study [J]. Lancet,2001, 358(9294):1665-1667.
6. Cicero S, Sonek J, McKenna D, et al, Nicolaides K. Nasal bone hypoplasia in fetuses with Trisomy 21 [J]. Ultrasound Obstet Gynecol,2003,21(1):15-18.
7. Cicero S, Avgidou K, Rembouskos G, et al. Nasal bone in first-trimester screening for trisomy 21[J]. Am J Obstet Gynecol,2006,195(1):109-114.
8. Sonek JD, Cicero S, Neiger R, et al. Nasal bone assessment in prenatal screening for trisomy 21 [J]. Am J Obstet Gynecol,2006,195(5):1219-1230.
9. Rembouskos G, Cicero S, Longo D, et al. Assessment of the fetal nasal bone at 11-14 weeks of gestation by three-dimensional ultrasound[J]. Ultrasound Obstet Gynecol, 2004,23(3):232-236.
10. Persico N, Borenstein M, Molina F, et al.Prenasal thickness in trisomy 21 fetuses at 16-24 weeks of gestation[J]. Ultrasound Obstet Gynecol,2008,32(6): 751-754.
11. De Jong-Pleij EA, Vos FI, Ribbert LS, et al.Prenasal thickness-to-nasal bone length ratio:a strong and simple second- and third-trimester marker for trisomy 21 [J]. Ultrasound Obstet Gynecol, 2012,39(2):185-190.
12. Cicero S, Curcio P, Rembouskos G.Maxillary length at 11-14 weeks of gestation in fetuses with trisomy 21 [J].Ultraound Obstet Gynecol,2004,24(1):19-22.
13. Sonek J, Borenstein M, Dagklis T, et al. Frontomaxillary facial angle in fetuses with trisomy 21 at 11-13(6) weeks[J].Am J Obstet Gynecol,2007,196:271.el-e4.
14. Borenstein M, Persico N, Kagan KO, et al. Frontomaxillary facial angle in screening for trisomy 21 at 11+0 to 13+6 weeks[J].Ultrasound Obstet Gynecol,2008,32(1): 5-11.
15. Molina F, Persico N, Borenstein M, et al. Frontomaxillary facial angle in trisomy-21 fetuses at 16-24 weeks of gestation[J]. Ultrasound Obstet Gynecol,2008,31(4): 384-387.
16. Borenstein M, Persico N, Strobl I, et al.Frontomaxillary and mandibulomaxillary facial angles at 11+0 to 13+6 weeks in fetuses with trisomy 18 [J].Ultrasound Obstet Gynecol,2007,30(7):928-933.
17. E.A.P.DE Jong-Pleij, L.S.M.Rebert, G.T.R.Manten, et al. Maxilla-nasion-mandible angle:a new method to assess profile anomalies in pregnancy [J]. Ultrasound Obstet Gynecol,2011,37(5):562-569.
18. Vicario R, Pirollo LM, De Angelis C, et al.Frontonasal facial angle in chromosomally normal fetuses at 11+0 to 13+6 weeks[J].J Obstet Gynaecol Res.2010,36(6):1179-1184.
19. Hyun Sun Ko, U-Young Lee, Sae Kyung Choi.Craniofacial inclination at 14 to 39 weeks'gestation in normal Korean fetuses[J].J Ultrasound Med,2012,31(4): 569-576.
20. Elisabeth A.P, Lucia S.M, Lou R, et al. The fetal profile line:a proposal for a sonographic reference line to calssify forehead and mandible anomalies in the second and third trimester [J]. Prenat Diagn,2012,32(8):797-802.
1. Goldstein I, Tamir A, Weiner Z, et al. Dimensions of the fetal facial profile in normal pregnancy[J].Ultrasound Obstet Gynecol,2010,35(2):191-194.
2. Opperman LE.Cranial sutures as intramembranous bone growth sites[J].Dev Dyn 2000,219(4):472-485.
3. Cohen MM Jr.Malformations of the craniofacial region:evolutionary, embryonic,genetic,and clinical perspectives[J].Am J Med Genet 2002,115(4): 245-268.
4.张维健,张岩,吴蓉,等.胎儿额骨及枕骨的发育.临沂医专学报[J],1997,19(1)：7-9.
5. Faro C, Benoit B, Wegrzyn P, Chaoui R, Nicolaides KH. Three-dimensional sonographic description of the fetal frontal bones and metopic suture[J]. Ultrasound Obstet Gynecol,2005,26(6):618-621.
6. Goldstein I, Reece EA, Gianluigi P, O'Connor TZ, Lockwood CJ, Hobbins JC. Sonographic assessment of the fetal frontal lobe:A potential tool for prenatal diagnosis of microcephaly [J]. Am J Obstet Gynecol,1988,158(5):1057-1062.
7. Bekdache GN, Begum M, Al-Gazali L,Prenatal diagnosis of thanatophoric dysplasia and obstetrical challenges[J]. J Obstet Gynaecol.2010;30(6):628-30.
8. Chen CP, et al. Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders:a review[J]. Taiwan J Obstet Gynecol.2012 Mar;51(1):12-7.
9. Down LJ. Observations on an ethnic classification of idiots[J]. Clinical Lectures and Reports, London Hospital 1866,3:259-262
10. Hangge PT, Cnota JF, Woo JG,Microcephaly is associated with early adverse neurologic outcomes in hypoplastic left heart syndrome [J]. Pediatr Res.2013 Jul;74(1):61-7.
11. Trenouth MJ.Shape changes during human fetal craniofacial growth[J].J Anat.1984, 139:639-651
12. Burdi AR, Spyropoulos MN.Prenatal growth patterns of the human mandible and massetercomplex[J].Am J Orthod.1978,74:380-387.
13. Farkas LG,Katic MJ,Forrest CR.Surface anatomy of the face in Downs' syndrome:linear and angular measurements in the craniofacial regions[J].J Craniofac Surg,2001,12(4):373-379.
14. Shapira J,Chaushu S,Becker A.Prevalence of tooth transpositon,third molar agenesis,and maxillary canine impaction in individuals with Down syndrome[J].Angle Orthod 2000,70(4):290-296.
15. Cicero S,Curcio P,Rembouskos G.Maxillary length at 11-14 weeks of gestation in fetuses with trisomy 21[J].Ultraound Obstet Gynecol,2004(1),24:19-22.
16. Sonek J, Borenstein M, Dagklis T, et al. Frontomaxillary facial angle in fetuses with trisomy 21 at 11-13(6) weeks [J].Am J Obstet Gynecol,2007,196:271.el-e4.
17. Borenstein.M, Persico.N, Dagklis.T, et al.Frontomaxillary facial anle in fetuses with trisomy 13 at 11+0 to 13+6 weeks[J].Ultraound Obstet Gynecol,2007,30(6):819-823
18. Paladini D, Morra T, Teodoro A, Lamberti A, Tremolaterra F, Martinelli P. Objective diagnosis of micrognathia in the fetus:the Jaw Index[J]. Obstet Gynecol,1999, 93(3):382-386.
19. Rotten D, Levaillant JM, Martinez H, et al. The fetal mandible:a 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia[J]. Ultrasound Obstet Gynecol,2002,19(2):122-130.
20. Sandikcioglu K, Molsted K, Kjaer I.The prenatal development of the human nasal and vomeral bones[J].J Craniofac Genet Dev Biol.1994,14(2):124-234
21. Tuxen A, Keeling JW, Reintoft I, Fischer HB, Nolting D, Kjaer I. A histological and radiological investigation of the nasal bone in fetuses with Down syndrome[J]. Ultrasound Obstet Gynecol,2003,22(1):22-26.
22. Cicero S, Curcio P, Papageorghiou A, Sonek J, Nicolaides K. Absence of nasal bone in fetuseswith trisomy 21 at 11-14 weeks of gestation:an observational study[J]. Lancet,2001,358(9294):1665-1667.
23. Cicero S, Avgidou K, Rembouskos G, Kagan KO, Nicolaides KH. Nasal bone in first-trimester screening for trisomy 21 [J]. Am J Obstet Gynecol,2006, 195(1):109-114.
24. Maymon R, Levinsohn-Tavor O, Cuckle H, Tovbin Y, Dreazen E, Wiener Y, Herman A. Second trimester ultrasound prenasal thickness combined with nasal bone length: a new method of Down syndrome screening[J]. Prenat Diagn,2005,25(10):906-911.
25. Kaisenberg CS,Krenn V, Ludwig M,et al.Morphological classification of nuchal skin in human fetuses with trisomy 21,18 and 13 at 12-18 weeks and in a trisomy 16 mouse[J].Anat Embryol 1998,197:105-124.
26.李胜利,陈琮瑛,刘菊玲,等.胎儿颜面部超声解剖成像研究.临床超声医学杂志[J].2003,5(6)：321-326.
27. Borenstein M, Persico N, Kagan KO, et al. Frontomaxillary facial angle in screening for trisomy 21 at 11+0 to 13+6 weeks [J].Ultrasound Obstet Gynecol,2008,32(1): 5-11.
28. Molina F, Persico N, Borenstein M, et al. Frontomaxillary facial angle in trisomy-21 fetuses at 16-24 weeks of gestation[J]. Ultrasound Obstet Gynecol,2008,31(4): 384-387.
29. Sun Rye Jeon, Hyung Min Choi, Young Ho Roh, et al. Frontomaxillary facial angle measurements in euploid Korean fetuses at 11 weeks'to 13 weeks 6 days 'gestation[J]. J Ultrasound Med,2010,29(11):1565-1571.
30. Borenstein M, Persico N, Kaihura C, et al.Frontomaxillary facial angle in chromosomally normal fetuses at 11+0 to 13+6 weeks[J].Ultrasound Obstet Gynecol,2007,30(5):737-741.
31. Vicario R, Pirollo LM, De Angelis C, et al.Frontonasal facial angle in chromosomally normal fetuses at 11+0 to 13+6 weeks[J].J Obstet Gynaecol Res.2010,36(6):1179-1184.
32. Hyun Sun Ko, U-Young Lee, Sae Kyung Choi.Craniofacial inclination at 14 to 39 weeks'gestation in normal Korean fetuses[J].J Ultrasound Med,2012,31(4): 569-576.
33. Makhoul IR, Soudack M, Goldstein I, et al.Sonographic biometry of the frontal lobe in normal and growh-restricted neonates[J].Pediatr Res,2004,55(5):877-833.
34. Borenstein M, Persico N, Strobl I, et al.Frontomaxillary and mandibulomaxillary facial angles at 11+0 to 13+6 weeks in fetuses with trisomy 18[J].Ultrasound Obstet Gynecol,2007,30(7):928-933.
35. E.A.P.DEJong-Pleij, L.S.M.Rebert, G.T.R.Manten, et al. Maxilla-nasion-mandible angle:a new method to assess profile anomalies in pregnancy[J]. Ultrasound Obstet Gynecol,2011,37(5):562-569.
36. Vos FI, Jong-Pleij EA, Ribbert LS, Tromp E, Bilardo CM.3D ultrasound imaging and measurement of nasal bone length, prenasal thickness and frontonmaxillary facial angle in normal second and third trimester fetuses [J]. Ultrasound Obstet Gynecol,2012,39(6):636-641.
37. Guis F, Ville Y, Vincent Y, Doumerc S, Pons JC, Frydman R. Ultrasound evaluation of the length of the nasal bones throughout gestation[J]. Ultrasound Obstet Gynecol, 1995,5(5):304-307.
38. Bunduki V, Ruano R, Miguelez J, Yoshizaki CT, Kahhale S, Zugaib M. Fetal nasal bone length:reference range and clinical application in ultrasound screening for trisomy 21[J]. Ultrasound Obstet Gynecol,2003,21(2):156-160.
39. Cusick W, Provenzano J, Sullivan C, Gallousis F, Rodis J. Fetal nasal bone length in euploid and aneuploid fetuses between 11and 20 weeks'gestation:a prospective study[J]. J Ultrasound Med,2004,23(10):1327-1333.
40. Persico N, Molina F, Borenstein M, Azumendi G, Nicolaides KH. Ultrasound Obstet Gynecol. Nasal-bone length in euploid fetuses at 16-24 weeks'gestation by three-dimensional ultrasound[J]. Ultrasound Obstet Gynecol,2010,36(3):285-290.
41. Hung JH, Fu CY, Chen CY, et al.Feta nasal bone length and Down syndrome during the second trimester in a Chinese population[J].J Obstet Gynaecol Res,2008,34(4): 518-523.
42. Kanagawa T, Fukuda H, Kinugasa Y et al. Mid-second trimester measurement of fetal nasal bone length in the Japanese population [J]. J Obstet Gynecol Res,2006, 32(4):403-407.
43. Sonek JD, Cicero S, Neiger R, Nicolaides KH. Nasal bone assessment in prenatal screening for trisomy 21[J]. Am J Obstet Gynecol,2006,195(5):1219-1230.
44. De Jong-Pleij EA, Vos FI, Ribbert LS, Pistorius LR, Tromp E, Bilardo CM.Prenasal thickness-to-nasal bone length ratio:a strong and simple second- and third-trimester marker for trisomy 21 [J]. Ultrasound Obstet Gynecol,2012,39(2):185-190.
45. Elisabeth A.P, Lucia S.M, Lou R, et al. The fetal profile line:a proposal for a sonographic reference line to calssify forehead and mandible anomalies in the second and third trimester [J]. Prenat Diagn,2012,32(8):797-802.
46. Rembouskos G, Cicero S, Longo D, et al. Assessment of the fetal nasal bone at 11-14 weeks of gestation by three-dimensional ultrasound[J]. Ultrasound Obstet Gynecol,2004,23(3):232-236.
47. Dyson RL, Pretorius DH, Budorick NE, et al.Three-dimensional ultrasound in the evaluation of fetal anomalies[J].Ultrasound Obstet Gynecol,2000,16(4):321-328.