Prenatal diagnosis and perinatal outcomes of twin pregnancies disharmonious for one fetus with nuchal translucency above the 95th percentile.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY Molecular Cytogenetics Pub Date : 2023-11-01 DOI:10.1186/s13039-023-00659-9

You Wang, Hang Zhou, Fang Fu, Ken Cheng, Ruibin Huang, Ru Li, Dongzhi Li, Can Liao

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Abstract

Objective: To assess prenatal diagnosis and pregnancy outcomes in twin pregnancies where one fetus has nuchal translucency (NT) above the 95th percentile.

Method: In this retrospective analysis, 130 twin pregnancies (260 fetuses) in which one twin had an NT measurement above the 95th percentile while that of the other twin was normal were analyzed. Prenatal diagnostic results such as G bands, chromosomal microarray analysis, ultrasound findings, and pregnancy outcomes were reviewed.

Results: Karyotype analysis and CMA results revealed that 15 (15.6 percent, 15/96) fetuses exhibited chromosomal abnormalities and that 13 fetuses were Variant of Uncertain Significance. Chromosome abnormalities were detected at a rate of 8.9% (5/56) in the DCT group and 25.0% (10/40) in the MCT group (p = 0.033, X2 = 4.571). 2 fetuses in DCT (3.9 percent, 2/51) and 4 fetuses in MCT (13.3 percent, 4/30) (p = 0.187) revealed structural abnormalities among the cases with normal prenatal diagnosis. Fetuses in the DCT group had an overall survival rate of 75.4 percent (95/126), whereas those in the MCT group had a survival rate of 60.4 percent (81/134) (p = 0.01, X2 = 6.636). According to the findings of Logistics regression analysis, NT thickening, maternal age and method of conception were all significant risk factors for chromosome abnormalities.

Conclusion: In twin pregnancies with one fetus with NT above the 95th percentile, the prevalence of fetal structural abnormalities of the MCT group and the DCT group were comparable. Pregnant women's age and mode of pregnancy are risk factors for chromosomal abnormalities.

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一个胎儿颈部半透明度超过95%的双胎妊娠的产前诊断和围产期结果不协调。

目的：评估一个胎儿颈部半透明（NT）超过95%的双胎妊娠的产前诊断和妊娠结局。方法：在这项回顾性分析中，对130例双胞胎妊娠（260例胎儿）进行了分析，其中一对双胞胎的NT测量值高于第95百分位，而另一对双胞胎正常。对G带、染色体微阵列分析、超声检查结果和妊娠结局等产前诊断结果进行了回顾。结果：核型分析和CMA结果显示，15例（15.6%，15/96）胎儿出现染色体异常，13例胎儿出现意义不确定的变异。DCT组和MCT组的染色体异常率分别为8.9%（5/56）和25.0%（10/40）（p = 0.033，X2 = 4.571）。DCT组2例（3.9%，2/51），MCT组4例（13.3%，4/30）（p = 0.187）显示在具有正常产前诊断的病例中存在结构异常。DCT组的胎儿总生存率为75.4%（95/126），而MCT组的胎儿生存率为60.4%（81/134）（p = 0.01，X2 = 根据Logistics回归分析结果，NT增厚、母亲年龄和受孕方式均为染色体异常的显著危险因素。结论：在一个胎儿NT高于95%的双胎妊娠中，MCT组和DCT组的胎儿结构异常发生率具有可比性。孕妇的年龄和妊娠方式是染色体异常的危险因素。

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来源期刊

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.