血清学指标、超声软指标联合NIPT用于高龄孕妇唐氏综合征筛查中的临床价值
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摘要
目的探讨血清学指标、超声软指标(ultrasound soft markers,USM)联合胎儿染色体非整倍体无创DNA产前检测(noninvasive prenatal testing,NIPT)用于高龄孕妇唐氏综合征(Down's syndrome,DS)筛查中的临床价值。方法回顾性分析2015年5月至2017年12月日照市妇幼保健院产检的2 984例高龄孕妇的产检和随访资料,所有产妇在孕期同时接受USM筛查和孕中期血清学筛查(second trimester serum screening,STSS),对于两项检查中有任意一项被定义为DS高危的孕妇,在征得其同意的情况下行NIPT,进行了NIPT的产妇最终以NIPT检测结果为最终筛查结果。未行NIPT者,以STSS或USM中检出的高危结果为最终筛查结果。筛查结果为高危的孕妇均进行羊膜腔穿刺确诊。对比筛查的敏感性与特异性。结果 2 984例孕妇同时接受STSS筛查和USM筛查,共有173例孕妇接受了NIPT筛查。其中,在STSS筛查为阳性的胎儿中发现6例核型异常,在USM筛查为阳性的胎儿中发现5例核型异常,在NIPT筛查为阳性的胎儿中发现5例核型异常; STSS和USM筛查方式的特异性和阴性预测值很高,但是敏感性较低,阳性预测值极低; STSS与USM分别与NIPT联合后,可以有效提高筛查的敏感性和阳性预测值。结论对于血清学指标和USM诊断为DS高危的孕妇,可以进一步筛查NIPT。这对于降低孕妇羊膜腔穿刺率,提高出生人口质量大有裨益。
Objective To investigate the clinical value of serum markers,ultrasound soft markers( USM) and NIPT in the screening of Down's syndrome( DS) in elderly pregnant women. Methods Retrospective analysis of prenatal care and follow-up information of 2 984 cases of elderly pregnant women in The Maternal and Child Health Hospital of Rizhao City from May 2015 to December 2017. All pregnant women underwent USM screening and second trimester serum screening( STSS) during pregnancy. For any of the two examinations that were defined as high-risk DS,the fetus chromosome aneuploidy non-invasive DNA prenatal testing( NIPT) was performed with their consent. Mothers who performed NIPT eventually used the NIPT test results as the final screening result. In the absence of NIPT,the high-risk results detected in STSS or USM were the final screening results. High-risk pregnant women were diagnosed with amniocentesis by screening. Compared the sensitivity and specificity of screening. Results 2 984 pregnant women received both STSS screening and USM screening. A total of 173 pregnant women received NIPT screening. 6 karyotypic abnormalities were found in fetuses positive for STSS screening. 5 cases of karyotypic abnormalities were detected in USM-positive fetuses. 5 cases of karyotypic abnormalities were detected in children who were positive for NIPT screening. The specificity and negative predictive value of STSS and USM screening methods were high,but the sensitivity was low,and the positive predictive value was extremely low; STSS and USM combined with NIPT respectively,can effectively increase the sensitivity and positive predictive value of screening. Conclusion NIPT can be further screened for pregnant women who are diagnosed with high-risk DS for serological markers and USM. This is of great benefit in reducing the rate of amniocentesis of pregnant women and improving the quality of the birth population.
Objective To investigate the clinical value of serum markers,ultrasound soft markers( USM) and NIPT in the screening of Down's syndrome( DS) in elderly pregnant women. Methods Retrospective analysis of prenatal care and follow-up information of 2 984 cases of elderly pregnant women in The Maternal and Child Health Hospital of Rizhao City from May 2015 to December 2017. All pregnant women underwent USM screening and second trimester serum screening( STSS) during pregnancy. For any of the two examinations that were defined as high-risk DS,the fetus chromosome aneuploidy non-invasive DNA prenatal testing( NIPT) was performed with their consent. Mothers who performed NIPT eventually used the NIPT test results as the final screening result. In the absence of NIPT,the high-risk results detected in STSS or USM were the final screening results. High-risk pregnant women were diagnosed with amniocentesis by screening. Compared the sensitivity and specificity of screening. Results 2 984 pregnant women received both STSS screening and USM screening. A total of 173 pregnant women received NIPT screening. 6 karyotypic abnormalities were found in fetuses positive for STSS screening. 5 cases of karyotypic abnormalities were detected in USM-positive fetuses. 5 cases of karyotypic abnormalities were detected in children who were positive for NIPT screening. The specificity and negative predictive value of STSS and USM screening methods were high,but the sensitivity was low,and the positive predictive value was extremely low; STSS and USM combined with NIPT respectively,can effectively increase the sensitivity and positive predictive value of screening. Conclusion NIPT can be further screened for pregnant women who are diagnosed with high-risk DS for serological markers and USM. This is of great benefit in reducing the rate of amniocentesis of pregnant women and improving the quality of the birth population.
引文
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[15]涂新枝,段纯,李玉哲,等.无创胎儿DNA检测在2 949例传统唐氏筛查临界风险孕妇中的应用[J].天津医药,2017,45(2):180-183.
[16]赵楠,付雪梅,王丹,等.吉林省孕妇产前多技术联合筛查效果分析[J].中国妇幼保健,2017,32(4):782-785.
[2] SzabóA,Szili K,SzabóJT,et al. Nasal bone length:prenasalthickness ratio:a strong 2D ultrasound marker for Down syndrome[J]. Prenat Diagn,2014,34(12):1139-1145.
[3] Kore S,Hegde A,Kanavia D,et al. Effects of period of gestationand position of fetal neck on nuchal translucency measurement[J].J Obstet Gynaecol India,2013,63(4):244-248.
[4] Metcalfe A,Hippman C,Pastuck M,et al. Beyond trisomy 21:additional chromosomal anomalies detected through routineaneuploidy screening[J]. J Clin Med,2014,3(2):388-415.
[5] Wald NJ,Bestwick JP,Huttly WJ. Improvements in antenatalscreening for Down's syndrome[J]. J Med Screen,2013,20(1):7-14.
[6] Kellogg G,Slattery L,Hudgins L,et al. Attitudes of mothers ofchildren with down syndrome towards noninvasive prenatal testing[J]. J Genet Couns,2014,23(5):805-813.
[7]穆兰,冉素真,魏俊,等.胎儿颈项透明层测量与染色体异常的相关性研究[J].重庆医学,2016,45(26):3638-3639.
[8]朱继红,文珂.胎儿鼻骨、颈项透明层厚度与母体血清学检测联合筛查唐氏综合征[J].中国现代医学杂志,2016,26(22):50-53.
[9]付金花.彩超检测胎儿颈项透明层厚度与胎儿发育异常的应用研究[J].中国保健营养,2016,26(25):123-124.
[10]辛娟,黄丽燕,杨文方,等.孕期综合性筛查技术评估唐氏综合征风险[J].中国妇幼健康研究,2017,28(10):1268-1271.
[11]吴杰,曾海燕.妊娠中期唐氏综合征血清学筛查与妊娠结局的研究[J].齐齐哈尔医学院学报,2015,36(12):1723-1725.
[12]陈芳,朱斌.孕中期唐氏筛查高危与不良妊娠结局的分析[J].中国现代药物应用,2017,11(16):56-57.
[13]姜淑芳,付玉荣,马莹,等. 9 033例孕中期血清学筛查唐氏综合征模拟调整结果分析[J].解放军医学杂志,2017,42(4):342-346.
[14]唐华,邹珊静,胡浩,等.孕中期唐氏筛查临界风险截断值的初步探讨[J].中国医师杂志,2017,19(8):1223-1225.
[15]涂新枝,段纯,李玉哲,等.无创胎儿DNA检测在2 949例传统唐氏筛查临界风险孕妇中的应用[J].天津医药,2017,45(2):180-183.
[16]赵楠,付雪梅,王丹,等.吉林省孕妇产前多技术联合筛查效果分析[J].中国妇幼保健,2017,32(4):782-785.