Prenatal Diagnosis of Simpson-Golabi-Behmel Syndrome
Prenatal Diagnosis of Simpson-Golabi-Behmel Syndrome
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DOI：
10.1002/ajmg.a.37873
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发表时间：
2016-12-01
影响因子：
2
通讯作者：
Lalatta, Faustina
中科院分区：
文献类型：
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作者：
Magini, Pamela;Palombo, Flavia;Lalatta, Faustina
Simpson-Golabi-Behmel综合征(SGBs)是一种生长过度综合征，通常在出生后根据表型进行诊断。产前超声检查可能会显示胎儿的改变，但这些改变不是病态的，而且大多数通常只有在怀孕20周后才能发现。尽管如此，早期诊断对于避免新生儿并发症和及时做出知情的妊娠决定是重要的。我们报告了来自两个无关家族的四个胎儿，在这些胎儿中，应用全外显子组测序和阵列-CGH可以识别引起SGBs的GPC3改变。对妊娠的仔细跟踪和对超声结果的更复杂的分析导致了对早期产前改变的识别，这将改善对性基底细胞瘤的产前诊断。(C)2016威利期刊公司。
Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth syndrome and it is usually diagnosed postnatally, on the basis of phenotype. Prenatal ultrasonography may show fetal alterations, but they are not pathognomonic and most of them are frequently detectable only from the 20th week of gestation. Nevertheless, early diagnosis is important to avoid neonatal complications and make timely and informed decisions about the pregnancy. We report on four fetuses from two unrelated families, in whom the application of whole exome sequencing and array-CGH allowed the identification of GPC3 alterations causing SGBS. The careful follow up of pregnancies and more sophisticated analysis of ultrasound findings led to the identification of early prenatal alterations, which will improve the antenatal diagnosis of SGBS. (C) 2016 Wiley Periodicals, Inc.