胎儿小脑发育不良与染色体异常的关系
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摘要
目的探讨胎儿小脑发育不良(CH)与染色体异常的相关性。方法收集本院胎儿超声表现异常且染色体异常的病例共226例纳入非整倍体组,另选取产前超声及出生后新生儿临床表现无异常的病例共817例纳入正常组。测量胎儿小脑前后径(APCD)和横径(TCD)并计算APCD/TCD比值,比较两组间的差异。结果非整倍体组中,21、18、13-三体组和其他组分别为117、80、9例和20例,各组APCD/TCD平均值依次为0.47、0.39、0.45和0.46。正常组的平均值为0.46。对比两组的比值,发现仅18-三体组与正常组有显著差异(P<0.05)。以0.41作为比值的截断值诊断18-三体征CH的灵敏度90.9%、特异度70.0%。结论胎儿CH多见于18-三体征,与其他染色体异常无明显相关。APCD/TCD比值可作为产前诊断18-三体征CH的超声指标。
Objective To explore the relationships between cerebellar hypoplasia(CH)and chromosomal abnormalities.Methods Cases with abnormal results were divided into aneuploid groups.Fetuses with no obvious morphologic abnormalities were collected as normal group.The anteroposterior cerebellar diameter(APCD)and transverse cerebellar diameter(TCD)were measured and the ratio of APCD to TCD were calculated and compared in these groups.Results There were 226 case in aneuploid groups,in which 117 cases in trisomy 21 group,80 cases in trisomy 18 group,9 cases in trisomy 13 group and 20 cases in another abnormal group.The mean value of APCD/TCD in these four groups were 0.47,0.39,0.45 and 0.46.The normal group included 817 fetuses and the mean value was0.46.Compared the ratio APCD/TCD in aneuploid group and normal group,only trisomy 18 group were significant different from normal group(P<0.05).When APCD/TCD was set as a predictor for CH in trisomy 18,the cut-off value was 0.41(sensitivity 90.9%,specificity 70.0%).Conclusions CH usually occurs in trisomy 18 cases.There are no obvious relationships between other chromosomal abnormalities and CH.APCD/TCD can be served as ultrasonic index for CH in trisomy 18.
Objective To explore the relationships between cerebellar hypoplasia(CH)and chromosomal abnormalities.Methods Cases with abnormal results were divided into aneuploid groups.Fetuses with no obvious morphologic abnormalities were collected as normal group.The anteroposterior cerebellar diameter(APCD)and transverse cerebellar diameter(TCD)were measured and the ratio of APCD to TCD were calculated and compared in these groups.Results There were 226 case in aneuploid groups,in which 117 cases in trisomy 21 group,80 cases in trisomy 18 group,9 cases in trisomy 13 group and 20 cases in another abnormal group.The mean value of APCD/TCD in these four groups were 0.47,0.39,0.45 and 0.46.The normal group included 817 fetuses and the mean value was0.46.Compared the ratio APCD/TCD in aneuploid group and normal group,only trisomy 18 group were significant different from normal group(P<0.05).When APCD/TCD was set as a predictor for CH in trisomy 18,the cut-off value was 0.41(sensitivity 90.9%,specificity 70.0%).Conclusions CH usually occurs in trisomy 18 cases.There are no obvious relationships between other chromosomal abnormalities and CH.APCD/TCD can be served as ultrasonic index for CH in trisomy 18.
引文
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[4]TAKANO M,HIRATA H,KAGAWA Y,et al.Ratio of fetal anteroposterior to transverse cerebellar diameter for detection of the cerebellar hypoplasia in the second trimester and comparison with trisomy 18[J].J Obstet Gynaecol Res,2015,41(11):1757-1761.
[5]TAKANO M,NAKATA M,OJI A,et al.Utility of fetal anteroposterior to transverse cerebellar diameter ratio to exclude cerebellar hypoplasia in trisomy 18[J].J Obstet Gynaecol Res,2018.
[6]INAGAKI M,ANDO Y,MITO T,et al.Comparison of brain imaging and neuropathology in cases of trisomy 18and 13[J].Neuroradiology,1987,29(5):474-479.
[7]WEIS S,WEBER G,NEUHOLD A,et al.Down syndrome:MR quantification of brain structures and comparison with normal control subjects[J].AJNR Am J Neuroradiol,1991,12(6):1207-1211.
[8]MURAKAMI A,TANAKA M,IJIRI R,et al.A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia:A special emphasis on trisomy 18[J].Pathol Int,2016,66(1):15-22.
[9]LIN H Y,LIN S P,CHEN Y J,et al.Clinical characteristics and survival of trisomy 18in a medical center in Taipei,1988-2004[J].Am J Med Genet A,2006,140(9):945-951.
[10]苏成安,陈泽坤,陈晓康,等.超声检测三体综合征胎儿透明隔腔[J].中国超声医学杂志,2014,30(6):546-554.
[11]HAYATA K,HIRAMATSU Y,MASUYAMA H,et al.Creation of a cerebellar diameter reference standard and its clinical application to the detection of cerebellar hypoplasia unique to trisomy 18[J].J Obstet Gynaecol Res,2015,41(12):1899-1904.
[2]HILL L M,MARCHESE S,PETERSON C,et al.The effect of trisomy 18on transverse cerebellar diameter[J].Am J Obstet Gynecol,1991,165(1):72-75.
[3]VINKESTEIJN A S,JANSEN C L,LOS F J,et al.Fetal transcerebellar diameter and chromosomal abnormalities[J].Ultrasound Obstet Gynecol,2001,17(6):502-505.
[4]TAKANO M,HIRATA H,KAGAWA Y,et al.Ratio of fetal anteroposterior to transverse cerebellar diameter for detection of the cerebellar hypoplasia in the second trimester and comparison with trisomy 18[J].J Obstet Gynaecol Res,2015,41(11):1757-1761.
[5]TAKANO M,NAKATA M,OJI A,et al.Utility of fetal anteroposterior to transverse cerebellar diameter ratio to exclude cerebellar hypoplasia in trisomy 18[J].J Obstet Gynaecol Res,2018.
[6]INAGAKI M,ANDO Y,MITO T,et al.Comparison of brain imaging and neuropathology in cases of trisomy 18and 13[J].Neuroradiology,1987,29(5):474-479.
[7]WEIS S,WEBER G,NEUHOLD A,et al.Down syndrome:MR quantification of brain structures and comparison with normal control subjects[J].AJNR Am J Neuroradiol,1991,12(6):1207-1211.
[8]MURAKAMI A,TANAKA M,IJIRI R,et al.A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia:A special emphasis on trisomy 18[J].Pathol Int,2016,66(1):15-22.
[9]LIN H Y,LIN S P,CHEN Y J,et al.Clinical characteristics and survival of trisomy 18in a medical center in Taipei,1988-2004[J].Am J Med Genet A,2006,140(9):945-951.
[10]苏成安,陈泽坤,陈晓康,等.超声检测三体综合征胎儿透明隔腔[J].中国超声医学杂志,2014,30(6):546-554.
[11]HAYATA K,HIRAMATSU Y,MASUYAMA H,et al.Creation of a cerebellar diameter reference standard and its clinical application to the detection of cerebellar hypoplasia unique to trisomy 18[J].J Obstet Gynaecol Res,2015,41(12):1899-1904.