Prenatal diagnosis of fetal nuchal fold thickening: a retrospective study of 17 cases

Q4 Medicine

中华围产医学杂志 Pub Date : 2019-06-16 DOI:10.3760/CMA.J.ISSN.1007-9408.2019.06.007

Yan Lyu, Yu-lin Jiang, Xiya Zhou, J. Bai, Ning Li, Mingming Wang, Wei Zhang, H. Meng, Zhong-hui Xu, Y. Ouyang, N. Hao, Juntao Liu, Q. Qi

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引用次数: 0

Abstract

Objective To investigate the prenatal diagnosis and genetic counseling of fetal nuchal fold (NF) thickening. Methods This study retrospectively analyzed 17 fetuses with increased NF detected by prenatal ultrasound examination in Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences from December 1, 2016 to December 1, 2017. All cases were divided into isolated (isolated group) or non-isolated increased NF group (non-isolated group) according to whether the fetus had concomitant ultrasonographic abnormalities or not. Karyotype and chromosomal microarray analysis (CMA) were performed on all cases. Clinical data, prenatal genetic testing results and pregnancy outcomes were analyzed. Results Of those twelve cases in the isolated group, two were terminated due to the identification of chromosomal abnormalities and pathogenic copy number variations (CNVs) and the fetal autopsy results were consistent with the prenatal diagnosis. The rest 10 pregnancies were all continued including one fetus carrying a variant of unknown significance, which was proved to be a paternal heredity by CMA, and nine without genetic abnormalities and all-these infants were healthy during follow-up. Among the five non-isolated cases, one was diagnosed as trisomy 21 by karyotyping and CMA, and the other four were found to have structural abnormalities under ultrasound scan, but without genetic abnormalities in karyotyping and CMA. And all the five pregnancies were terminated after genetic counseling and three of them chose whole exome sequencing (WES) for further test. One homozygous mutation in CHRNA1 gene and one de novo mutation in SETD2 gene were found in two cases, respectively, while no abnormality was identified in the other one case. Conclusions Once increased NF were indicated by ultrasound examination, prenatal genetic testing should be offered to the patients, including CMA, regardless of other ultrasonographic abnormalities, and WES should also be offered when necessary. Considering a thickened NF is associated with increased risks of structural defects, a close follow-up with fetal echocardiography and ultrasound is required even the prenatal tests are normal. Key words: Nuchal translucency measurement; Ultrasonography, prenatal; Chromosome aberrations

查看原文本刊更多论文

胎儿颈褶增厚的产前诊断:17例回顾性研究

目的探讨胎儿颈襞增厚的产前诊断及遗传咨询。方法回顾性分析2016年12月1日至2017年12月31日在北京协和医院、北京协和医学院和中国医学科学院进行的产前超声检查中发现NF增高的17例胎儿。根据胎儿是否伴有超声异常，将所有病例分为孤立组（孤立组）或非孤立NF升高组（非孤立组）。对所有病例进行了核型和染色体微阵列分析。分析了临床数据、产前基因检测结果和妊娠结局。结果在分离组的12例病例中，有2例因染色体异常和病原拷贝数变异（CNVs）而终止妊娠，胎儿尸检结果与产前诊断一致。其余10例妊娠均继续进行，其中一例胎儿携带一种意义未知的变体，CMA证明这是父亲遗传，9例无遗传异常，所有这些婴儿在随访期间都是健康的。在5例非孤立病例中，1例通过核型分析和CMA诊断为21三体，另外4例在超声扫描下发现有结构异常，但在核型分析和CMA中没有遗传异常。在基因咨询后，所有五个妊娠都被终止了，其中三个选择了全外显子组测序（WES）进行进一步测试。在两个病例中分别发现了一个CHRNA1基因纯合突变和一个SETD2基因从头突变，而在另一个病例中没有发现异常。结论一旦超声检查显示NF增加，无论其他超声异常，都应向患者提供产前基因检测，包括CMA，必要时还应提供WES。考虑到NF增厚与结构缺陷风险增加有关，即使产前检查正常，也需要密切随访胎儿超声心动图和超声。关键词：Nuchal半透明度测量；产前超声检查；染色体畸变

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来源期刊

中华围产医学杂志 Medicine-Obstetrics and Gynecology

CiteScore

0.70

自引率

0.00%

发文量

4446

期刊介绍： Chinese Journal of Perinatal Medicine was founded in May 1998. It is one of the journals of the Chinese Medical Association, which is supervised by the China Association for Science and Technology, sponsored by the Chinese Medical Association, and hosted by Peking University First Hospital. Perinatal medicine is a new discipline jointly studied by obstetrics and neonatology. The purpose of this journal is to "prenatal and postnatal care, improve the quality of the newborn population, and ensure the safety and health of mothers and infants". It reflects the new theories, new technologies, and new progress in perinatal medicine in related disciplines such as basic, clinical and preventive medicine, genetics, and sociology. It aims to provide a window and platform for academic exchanges, information transmission, and understanding of the development trends of domestic and foreign perinatal medicine for the majority of perinatal medicine workers in my country.