Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
Dianthus Maternal Fetal Medicine Clinic, Sofiva Genomics Co., Ltd., Taipei, Taiwan.
Mol Genet Genomic Med. 2023 Jul;11(7):e2174. doi: 10.1002/mgg3.2174. Epub 2023 Apr 4.
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.
16 号染色体短臂包含几个拷贝数变异（CNVs），这些变异在神经发育障碍中至关重要；然而，出生后的不完全外显率和多种表型增加了产前遗传咨询的难度。
我们筛选了 15051 名在 2012 年 7 月至 2017 年 12 月期间接受产前染色体微阵列分析的孕妇。根据筛查中发现的突变类型（16p13.3、16p13.11、16p12.2 和 16p11.2），将具有阳性阵列结果的患者分为四个亚组，回顾不同病例的母体特征、产前检查和产后结果。
在 34 名胎儿中发现 16 号染色体 CNVs，包括 4 名 16p13.3 CNVs、22 名 16p13.11 CNVs、2 名 16p12.2 微缺失和 6 名 16p11.2 CNVs。在 34 名胎儿中，17 名无儿童期早期神经发育障碍，3 名儿童期出现神经发育障碍，10 名终止妊娠。
不完全外显率和可变表达使产前咨询具有挑战性。大多数遗传性 16p13.11 微重复的病例在儿童早期被报道发育正常，我们还报告了一些无进一步神经发育障碍的新生 16p CNVs 病例。
