PDF(Pubmed)
Abstract：
The short arm of chromosome 16 consists of several copy number variants (CNVs) that are crucial in neurodevelopmental disorders; however, incomplete penetrance and diverse phenotypes after birth aggravate the difficulty of prenatal genetic counseling.
We screened 15,051 pregnant women who underwent prenatal chromosomal microarray analysis between July 2012 and December 2017. Patients with positive array results were divided into four subgroups based on the type of mutation identified on screening (16p13.3, 16p13.11, 16p12.2, and 16p11.2), and the maternal characteristics, prenatal examinations, and postnatal outcomes of different cases were reviewed.
Chromosome 16 CNVs were identified in 34 fetuses, including four with 16p13.3 CNVs, 22 with 16p13.11 CNVs, two with 16p12.2 microdeletions, and six with 16p11.2 CNVs. Of the 34 fetuses, 17 delivered without early childhood neurodevelopmental disorders, three developed neurodevelopmental disorders during childhood, and 10 were terminated.
Incomplete penetrance and variable expressivity make prenatal counseling challenging. Most cases with inherited 16p13.11 microduplication were reported to have normal development in early childhood, and we also report a few cases of de novo 16p CNVs without further neurodevelopmental disorders.
We screened 15,051 pregnant women who underwent prenatal chromosomal microarray analysis between July 2012 and December 2017. Patients with positive array results were divided into four subgroups based on the type of mutation identified on screening (16p13.3, 16p13.11, 16p12.2, and 16p11.2), and the maternal characteristics, prenatal examinations, and postnatal outcomes of different cases were reviewed.
Chromosome 16 CNVs were identified in 34 fetuses, including four with 16p13.3 CNVs, 22 with 16p13.11 CNVs, two with 16p12.2 microdeletions, and six with 16p11.2 CNVs. Of the 34 fetuses, 17 delivered without early childhood neurodevelopmental disorders, three developed neurodevelopmental disorders during childhood, and 10 were terminated.
Incomplete penetrance and variable expressivity make prenatal counseling challenging. Most cases with inherited 16p13.11 microduplication were reported to have normal development in early childhood, and we also report a few cases of de novo 16p CNVs without further neurodevelopmental disorders.
摘要：
背景：16号染色体的短臂由几种在神经发育障碍中至关重要的拷贝数变异（CNV）组成；然而，出生后外显率不完全和表型多样化加剧了产前遗传咨询的难度。
方法：我们在2012年7月至2017年12月期间筛查了15,051名接受产前染色体微阵列分析的孕妇。根据筛选时确定的突变类型（16p13.3，16p13.11，16p12.2和16p11.2），将阵列结果阳性的患者分为四个亚组。和母亲的特征，产前检查,并回顾了不同病例的产后结局。
结果：在34个胎儿中发现了16个CNV染色体，包括四个16p13.3CNV，22与16p13.11CNV，两个带有16p12.2微缺失，和六个16p11.2CNVs。在34个胎儿中，17没有早期儿童神经发育障碍，三种在童年时期发展的神经发育障碍，10人被终止。
结论：不完整的外显率和可变的表达能力使产前咨询具有挑战性。据报道，大多数遗传性16p13.11微重复病例在儿童早期发育正常，我们还报告了一些没有进一步神经发育障碍的从头16pCNV病例。
方法：我们在2012年7月至2017年12月期间筛查了15,051名接受产前染色体微阵列分析的孕妇。根据筛选时确定的突变类型（16p13.3，16p13.11，16p12.2和16p11.2），将阵列结果阳性的患者分为四个亚组。和母亲的特征，产前检查,并回顾了不同病例的产后结局。
结果：在34个胎儿中发现了16个CNV染色体，包括四个16p13.3CNV，22与16p13.11CNV，两个带有16p12.2微缺失，和六个16p11.2CNVs。在34个胎儿中，17没有早期儿童神经发育障碍，三种在童年时期发展的神经发育障碍，10人被终止。
结论：不完整的外显率和可变的表达能力使产前咨询具有挑战性。据报道，大多数遗传性16p13.11微重复病例在儿童早期发育正常，我们还报告了一些没有进一步神经发育障碍的从头16pCNV病例。
