Prenatal diagnosis and pregnancy outcomes of 17 fetuses with 16p13.11 microdeletion syndrome
10.3760/cma.j.cn113903-20220305-00220
- VernacularTitle:17例16p13.11微缺失综合征的产前诊断及胎儿生后随访结局
- Author:
Mengting ZHANG
1
;
Dong WU
;
Yue GAO
;
Hongdan WANG
;
Fengyang WANG
;
Qian ZHANG
;
Hai XIAO
;
Liangjie GUO
;
Shixiu LIAO
Author Information
1. 河南省人民医院医学遗传研究所（河南省遗传性疾病功能基因组重点实验室），郑州 450003
- Keywords:
Chromosomes, human, pair 16;
Chromosome deletion;
Prenatal diagnosis;
Pregnancy outcome
- From:
Chinese Journal of Perinatal Medicine
2022;25(9):689-693
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the association between prenatal genotype and phenotype of 16p13.11 microdeletion syndrome, aiming to provide a reference for prenatal diagnosis and genetic counseling.Methods:This retrospective study analyzed the results of comparative genomic hybridization microarray and low-coverage whole genome sequencing performed on 4 230 pregnant women in the Henan Provincial People's Hospital from July 2018 to July 2021. Indications for prenatal diagnosis, pedigree information and pregnancy outcomes of 17 fetuses with 16p13.11 microdeletion were described.Results:Prenatal diagnostic indications in the 17 fetuses were ultrasound abnormalities in five cases (increased nuchal translucency in four and cerebral ventriculomegaly with 10.7 mm in one), inter-twin weight discordance over 20% in one case, high risk in five cases and marginal risk in one in trisomy-21 serum screening, advanced maternal age in three cases (one with echogenic intracardiac focus in the left ventricle and two with normal ultrasound images) and adverse pregnancy history in two cases with normal ultrasound images. Pedigree verification that performed on 12 cases revealed that five were caused by de novo mutations and seven were inherited from their parents. The follow-up results showed that five cases were terminated, two lost to follow-up and 10 born alive (inheritance patterns were de novo mutations in three cases, parental inheritance in six and unknown pattern in one). These 10 infants were followed up from age 7 months to 3 years and 2 months and the results showed that one case was born with choroid plexus cyst of the left ventricle and presented instability of gait at 1 year and 3 months; one was a premature infant with 33 gestational weeks whose parents reported his language ability was not well at 2 years and 1 month old but without other abnormalities; one case had low muscle tone and was unable to keep head upright at 3 months who recovered at 5 months old after rehabilitation treatment according to the parents' report; all seven parents in the remaining seven cases reported no abnormalities. Conclusions:There was no specific prenatal diagnostic indication for 16p13.11 microdeletion syndrome. Genetic tracing, pregnancy outcome analysis and follow-up surveillance would provide reference for genetic counseling of 16p13.11 microdeletion syndrome.
