Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second-trimester using chromosomal microarray analysis

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY Birth Defects Research Pub Date : 2024-05-20 DOI:10.1002/bdr2.2351

Xinying Chen, Yuying Jiang, Shuhong Zeng, Jianlong Zhuang, Na Lin

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Abstract

Background

Pathogenic copy number variants (pCNVs) are associated with fetal ultrasound anomalies, which can be efficiently identified through chromosomal microarray analysis (CMA). The primary objective of the present study was to enhance understanding of the genotype–phenotype correlation in fetuses exhibiting absent or hypoplastic nasal bones using CMA.

Methods

Enrolled in the present study were 94 cases of fetuses with absent/hypoplastic nasal bone, which were divided into an isolated absent/hypoplastic nasal bone group (n = 49) and a non-isolated group (n = 45). All pregnant women enrolled in the study underwent karyotype analysis and CMA to assess chromosomal abnormalities in the fetuses.

Results

Karyotype analysis and CMA detection were successfully performed in all cases. The results of karyotype and CMA indicate the presence of 11 cases of chromosome aneuploidy, with trisomy 21 being the most prevalent among them. A small supernumerary marker chromosome (sSMC) detected by karyotype analysis was further interpreted as a pCNV by CMA. Additionally, CMA detection elicited three cases of pCNVs, despite normal findings in their karyotype analysis results. Among them, one case of Roche translocation was identified to be a UPD in chromosome 15 with a low proportion of trisomy 15. Further, a significant difference in the detection rate of pCNVs was observed between non-isolated and isolated absent/hypoplastic nasal bone (24.44% vs. 8.16%, p < .05).

Conclusion

The present study enhances the utility of CMA in diagnosing the etiology of absent or hypoplastic nasal bone in fetuses. Further, isolated cases of absent or hypoplastic nasal bone strongly suggest the presence of chromosomal abnormalities, necessitating genetic evaluation through CMA.

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利用染色体微阵列分析对第二孕期鼻骨缺失/发育不良的胎儿进行产前诊断。

背景：致病性拷贝数变异（pCNVs）与胎儿超声异常有关，可通过染色体微阵列分析（CMA）有效识别。本研究的主要目的是利用 CMA 进一步了解鼻骨缺失或鼻骨发育不良胎儿的基因型与表型之间的相关性：本研究共纳入 94 例鼻骨缺失/鼻骨发育不良的胎儿，分为孤立性鼻骨缺失/鼻骨发育不良组（49 例）和非孤立性鼻骨缺失/鼻骨发育不良组（45 例）。所有参与研究的孕妇都接受了核型分析和 CMA，以评估胎儿的染色体异常：结果：所有病例均成功进行了核型分析和 CMA 检测。结果：所有病例均成功进行了核型分析和 CMA 检测。核型分析和 CMA 检测结果显示，11 例胎儿存在染色体非整倍体，其中以 21 三体综合征最为常见。核型分析检测到的一条小的超常标记染色体（sSMC）被 CMA 进一步解释为 pCNV。此外，尽管核型分析结果正常，但 CMA 检测仍发现了三例 pCNV。其中一例罗氏易位被鉴定为 15 号染色体上的 UPD，15 三体比例较低。此外，非分离型和分离型缺失/增生性鼻骨的 pCNVs 检出率有明显差异（24.44% vs. 8.16%，p 结论：本研究提高了 pCNVs 检测的实用性：本研究提高了 CMA 在诊断胎儿鼻骨缺失或鼻骨发育不良病因方面的实用性。此外，孤立的鼻骨缺失或鼻骨发育不良病例强烈提示存在染色体异常，因此有必要通过 CMA 进行遗传学评估。

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来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.