Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis.
Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis.
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DOI：
10.1111/jcmm.16080
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发表时间：
2021-01
影响因子：
5.3
通讯作者：
Zheng D
中科院分区：
文献类型：
--
作者：
Zhang Y;Zhong M;Zheng D
通过G显带核型分析和染色体微阵列分析（CMA）探讨染色体嵌合体（CM）的发生率及其在产前诊断中的临床意义。这是一项针对 CM 侵入性产前诊断的单中心回顾性研究。从5758份核型分析结果和6066份CMA结果中，筛选出104例CM胎儿进行进一步分析。总共 50% (52/104) 的 CM 胎儿病例受到超声可检测表型的影响。无论是单胎还是双胎妊娠，一个系统的孤立结构缺陷（单胎为 51.35%，19/37；双胞胎为 86.67%，13/15）和单一软标记（单胎为 18.92%，7/37；双胞胎为 13.33%，2/15）是最常见的超声异常。镶嵌常染色体三体性（19.23%，20/104）是最常见的类型，其发生率在表型胎儿（28.85%，15/52）中高于非表型胎儿（9.62%，5/52）。根据标本来源或总体分类，表型胎儿和非表型胎儿之间的嵌合分数没有差异。不同标本或不同检测方法的镶嵌结果不一致的有16例（15.38%，16/104）。由于表型可变且意义不明确，产前诊断中 CM 的遗传咨询和临床管理仍然具有挑战性。产前咨询应更加谨慎，并应采用更全面的检测，包括系列超声检查、不同标本或检测方法的验证和随访。
To investigate the incidence and clinical significance of chromosomal mosaicism (CM) in prenatal diagnosis by G‐banding karyotyping and chromosomal microarray analysis (CMA). This is a single‐centre retrospective study of invasive prenatal diagnosis for CM. From 5758 karyotyping results and 6066 CMA results, 104 foetal cases with CM were selected and analysed further. In total, 50% (52/104) of foetal cases with CM were affected by ultrasound‐detectable phenotypes. Regardless of whether they were singleton or twin pregnancies, isolated structural defects in one system (51.35%, 19/37 in singletons; 86.67%, 13/15 in twins) and a single soft marker (18.92%, 7/37 in singletons; 13.33%, 2/15 in twins) were the most common ultrasound anomalies. Mosaic autosomal trisomy (19.23%, 20/104) was the most frequent type, and its rate was higher in phenotypic foetuses (28.85%, 15/52) than in non‐phenotypic foetuses (9.62%, 5/52). There was no difference in mosaic fractions between phenotypic and non‐phenotypic foetuses based on specimen sources or overall classification. Discordant mosaic results were observed in 16 cases (15.38%, 16/104) from different specimens or different testing methods. Genetic counselling and clinical management regarding CM in prenatal diagnosis remain challenging due to the variable phenotypes and unclear significance. Greater caution should be used in prenatal counselling, and more comprehensive assays involving serial ultrasound examinations, different specimens or testing methods verifications and follow‐up should be applied.
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