Prenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2023-09-02 DOI:10.1186/s13039-023-00650-4

Hang Zhou, Xin Yang, CuiXing Yi, Huizhu Zhong, Simin Yuan, Min Pan, Dongzhi Li, Can Liao

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Abstract

Objective: To evaluate the prenatal and perinatal outcome of fetuses with extremely large nuchal translucency (eNT) thickness (≥ 6.5 mm).

Methods: 193 (0.61%) singleton fetuses with eNT were retrospectively included. Anomaly scan, echocardiography, and chromosomal and genetic test were included in our antenatal investigation. Postnatal follow-up was offered to all newborns.

Results: Major congenital anomalies included congenital heart defect (32.6%, 63/193), hydrops fetalis (13.5%, 26/193), omphalocele (9.3%, 18/193), and skeletal dysplasia (7.8%, 15/193) et al. Abnormal karyotype was identified in 81/115 (70.4%) cases including Turner syndrome (n = 47), Trisomy 18 (n = 17), Trisomy 21 (n = 9), and Trisomy 13 (n = 3). Chromosomal microarray analysis provided informative results with 3.6% (1/28) incremental diagnostic yield over conventional karyotyping. The diagnostic yield of exome sequencing is 10.0% (2/20). There was no significant increase [Odds Ratio (OR) = 1.974; 95% confidence interval 0.863-4.516; P = 0.104] in the incidence of chromosomal defects despite the presence of other structural anomalies. Only 13 fetuses were successfully followed up and survived at term, no one was found with developmental delay or mental retardation.

Conclusions: Extremely large NT has a high risk of chromosomal abnormality. CMA and ES improve chromosomal genomic and genetic diagnosis of fetal increased NT. When cytogenetic analysis and morphology assessment are both normal, the outcome is good.

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颈透明异常大的胎儿的产前诊断和幼儿结局。

目的:评价颈透(eNT)厚度极大(≥6.5 mm)胎儿的产前及围生期结局。方法:回顾性分析193例(0.61%)单胎耳鼻喉科胎儿。异常扫描，超声心动图，染色体和基因检测包括在我们的产前调查。对所有新生儿进行产后随访。结果:先天性畸形主要有先天性心脏缺损(32.6%，63/193)、胎儿水肿(13.5%，26/193)、脐膨出(9.3%，18/193)、骨骼发育不良(7.8%，15/193)等。异常核型81/115例(70.4%)，包括特纳综合征(n = 47)、18三体(n = 17)、21三体(n = 9)、13三体(n = 3)。染色体微阵列分析提供了信息丰富的结果，与常规核型相比，诊断率增加了3.6%(1/28)。外显子组测序的诊断率为10.0%(2/20)。差异无统计学意义[比值比(OR) = 1.974;95%置信区间0.863-4.516;P = 0.104]染色体缺陷发生率的差异，尽管存在其他结构异常。只有13个胎儿成功随访并足月存活，没有发现发育迟缓或智力迟钝。结论:特大NT有较高的染色体异常风险。CMA和ES可改善胎儿NT增高的染色体基因组学和遗传学诊断。当细胞遗传学分析和形态学评估均正常时，结果良好。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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.