Rabin Medical Center, Recanati Genetics Institute, Beilinson Hospital, Petach Tikva, Israel.
Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel.
Acta Obstet Gynecol Scand. 2020 Jun;99(6):757-764. doi: 10.1111/aogs.13708. Epub 2019 Sep 9.
Ventricular septal defect (VSD) represents the most common type of congenital cardiac anomaly, affecting more than 1 in 300 live births. The objective of this study was to examine the incidence and nature of abnormal chromosomal microarray analysis (CMA) results in a large cohort of pregnancies with VSD.
Data acquisition was performed through the Ministry of Health computerized database. All CMA results performed due to VSD during 2013-2017 were included. The rates of clinically significant CMA results of cases with isolated and non-isolated VSD were compared with two control populations-a systematic review of 9272 pregnancies and a local cohort of 5541 fetuses with normal ultrasound.
Overall, 691 CMA analyses performed due to a sonographic indication of VSD were detected. Of 568 pregnancies with isolated VSD, eight (1.4%) clinically significant copy number variants were detected, a nonsignificant difference compared with low risk pregnancies. Of the 123 pregnancies with non-isolated VSDs, 18 (14.6%) clinically significant CMA results were detected, a considerably increased risk compared with control pregnancies. Karyotype-detectable anomalies constituted 12 of the 18 abnormal CMA results in non-isolated VSD group (66.7%), a significantly higher proportion compared with 2 of 8 (25%) in isolated VSD cohort.
The outcomes of our study, representing the largest number of CMA results in pregnancies with VSD, suggest that the rate of abnormal CMA findings in isolated VSD does not differ from pregnancies with normal ultrasound. This observation is true for populations undergoing routine common trisomy screening tests and early sonographic evaluation, as well as widely available non-invasive prenatal screening. Conversely, CMA analysis yields a high detection rate in pregnancies with non-isolated VSD. Our results question the recommendation to perform invasive prenatal testing for CMA in pregnancies with isolated VSD.
室间隔缺损（VSD）是最常见的先天性心脏畸形，影响超过 1/300 的活产儿。本研究的目的是研究在一个大的 VSD 妊娠队列中异常染色体微阵列分析（CMA）结果的发生率和性质。
通过卫生部计算机数据库进行数据采集。纳入 2013 年至 2017 年期间因 VSD 进行的所有 CMA 结果。比较了单纯 VSD 组和非单纯 VSD 组的临床显著 CMA 结果发生率与两个对照组（9272 例妊娠的系统综述和 5541 例正常超声胎儿的本地队列）。
总共发现了 691 例因 VSD 超声表现而进行的 CMA 分析。在 568 例单纯 VSD 妊娠中，发现 8 例（1.4%）有临床意义的拷贝数变异，与低危妊娠无显著差异。在 123 例非单纯 VSD 妊娠中，发现 18 例（14.6%）有临床意义的 CMA 结果，与对照组妊娠相比风险显著增加。在非单纯 VSD 组的 18 例异常 CMA 结果中，有 12 例（66.7%）为核型可检测异常，明显高于单纯 VSD 组的 2 例（25%）。
我们的研究结果，代表了 VSD 妊娠中 CMA 结果数量最多的一次，表明单纯 VSD 中异常 CMA 发现的发生率与正常超声妊娠无差异。这一观察结果适用于接受常规三体筛查试验和早期超声评估以及广泛应用的非侵入性产前筛查的人群。相反，CMA 分析在非单纯 VSD 妊娠中的检出率较高。我们的研究结果质疑了对单纯 VSD 妊娠进行 CMA 侵袭性产前检测的建议。
