Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.
Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.
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DOI：
10.1002/mgg3.1649
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发表时间：
2021-05
影响因子：
2
通讯作者：
Lapunzina P
中科院分区：
文献类型：
--
作者：
García-Santiago FA;Martínez-Payo C;Mansilla E;Santos-Simarro F;Ruiz de Azua Ballesteros M;Mori MÁ;Antolín Alvarado E;Nieto Y;Vallcorba I;Tenorio J;Nevado J;Lapunzina P
在妊娠早期和中期没有超声表现的微缺失综合征的产前诊断总是困难的。本研究的目的是报告应用染色体微阵列(CMA)对4例诊断为17q21.31微缺失(Kooline-de Vries综合征)的胎儿进行产前超声检查。我们提出了四个带有17q21.31微缺失的胎儿。3例均于妊娠晚期出现中枢神经系统异常，3例于妊娠31周时出现脑室肿大，1例出现穹隆发育不良。对未培养的羊水细胞和外周血进行了ARRAY-SNPs和CGH-ARRAY，发现了17q21.31的微缺失。产前中枢神经系统异常(主要是脑室增大)，在妊娠晚期，尽管是孤立的，应该被认为是这种综合征的产前超声标志。这类畸形增加了包括17q21.31微缺失在内的潜在遗传疾病的可能性；因此，在提供产前遗传咨询时应考虑CMA。妊娠晚期的产前中枢神经系统异常(主要是脑室增大)应被认为是该综合征的产前超声标志物。这种畸形增加了包括17q21.31微缺失在内的潜在遗传疾病的可能性。因此，在提供产前遗传咨询时应考虑CMA。
Prenatal diagnoses of microdeletion syndromes without ultrasound findings in the first and second trimester are always difficult. The objective of this study is to report the prenatal ultrasound findings in four foetuses diagnosed with 17q21.31 microdeletions (Koolen‐de Vries syndrome) using chromosomal microarrays (CMA). We present four foetuses with 17q21.31 microdeletion. All showed CNS anomalies in the third trimester, three had ventriculomegaly, and one hypogenesis of corpus callosum at 31 weeks of pregnancy. Array‐SNPs and CGH‐array were performed on uncultured amniocytes and peripheral blood revealing a 17q21.31 microdeletion. Prenatal CNS anomalies (mainly ventriculomegaly) at third trimester, in spite of isolate, should be considered a prenatal ultrasound marker of this syndrome. This kind of malformations raise the possibility of an underlying genetic conditions including 17q21.31 microdeletion; thus, CMA should be taken into consideration when offering prenatal genetic counselling. Prenatal CNS anomalies (mainly ventriculomegaly) at third trimester, should be considered a prenatal ultrasound marker of this syndrome. This kind of malformations raise the possibility of an underlying genetic condition including 17q21.31 microdeletion. Thus CMA should be taken into consideration when offering prenatal genetic counselling.
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