Zhang Feng, Long Wei, Zhou Qin, Wang Jing, Shi Ye, Liu Jianbing, Wang Qiuwei
Department of Medical Genetics, Changzhou Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Changzhou, Jiangsu Province, People's Republic of China.
Clinical Laboratory, Changzhou Children's Hospital Affiliated to Nantong Medical University, Changzhou, Jiangsu Province, People's Republic of China.
Int J Gen Med. 2021 Aug 11;14:4435-4441. doi: 10.2147/IJGM.S322359. eCollection 2021.
This study aimed to explore the value of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in the prenatal diagnosis of fetal isolated nasal bone absence (INBA) or isolated nasal bone hypoplasia (INBH). We hope to provide additional relevant information for clinical counseling.
From November 1, 2018, to March 1, 2020, 55 pregnant women with isolated nasal bone dysplasia were admitted to the Changzhou Maternity and Child Health Care Hospital. Based on the degree of abnormality, the patients were divided into two groups: INBA and INBH. CMA was performed on all patients. The clinical data and prenatal genetic diagnoses of the two groups were retrospectively analyzed. According to the requirements of WES for samples, 12 cases with negative CMA results were selected for the WES test.
A total of 55 cases with INBA or INBH met the inclusion criteria. In 35INBA fetuses, there was one case of trisomy 21 and one case of 10q11.22 deletion (5.7Mb), and the abnormality rate was 5.71% (2/35). Compared with INBA fetuses, the abnormality rate was increased in the fetuses with INBH [15.00% (3/20)] (15.00% vs 5.71%); there was one case of 1q21.1 duplication (1.3Mb), one case of Xp22.31 duplication (1.67Mb), and one case of 4p deletion (7.6Mb). In a later retrospective study, two pathogenic variants were identified in two cases after the WES test; the abnormality rate was 16.67% (2/12), which involved and genes, respectively.
A preliminary study confirmed that molecular prenatal diagnosis should be performed in fetuses with INBA or INBH. CMA followed by WES is an effective method.
本研究旨在探讨染色体微阵列分析（CMA）和全外显子组测序（WES）在胎儿孤立性鼻骨缺失（INBA）或孤立性鼻骨发育不全（INBH）产前诊断中的价值。我们希望为临床咨询提供更多相关信息。
2018年11月1日至2020年3月1日，55例孤立性鼻骨发育异常的孕妇入住常州市妇幼保健院。根据异常程度，将患者分为两组：INBA组和INBH组。对所有患者进行CMA检测。回顾性分析两组患者的临床资料及产前基因诊断结果。根据WES对样本的要求，选取CMA结果为阴性的12例患者进行WES检测。
共有55例INBA或INBH患者符合纳入标准。在35例INBA胎儿中，有1例21三体和1例10q11.22缺失（5.7Mb），异常率为5.71%（2/35）。与INBA胎儿相比，INBH胎儿的异常率有所升高[15.00%（3/20）]（15.00%对5.71%）；有1例1q21.1重复（1.3Mb）、1例Xp22.31重复（1.67Mb）和1例4p缺失（7.6Mb）。在后续的回顾性研究中，WES检测后在2例患者中鉴定出2个致病变异；异常率为16.67%（2/12），分别涉及 和 基因。
初步研究证实，对于INBA或INBH胎儿应进行分子产前诊断。先进行CMA再进行WES是一种有效的方法。
