Molecular genetics & genomic medicine · 2026
Prenatal Diagnosis and Postnatal Follow-Up of 19 Fetuses With 16p13.11 Microduplication in a Cohort of 12,038 Pregnancies From South Zhejiang.
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Lv Xiaoxiao, Li Shufei, Zhou Lili, Wang Ruipu, Yu Yuan, Xu Chenyang, Xu Xueqin, Tang Xiaohua, Li Huanzheng
Аннотация
BACKGROUND: Prenatal interpretation of 16p13.11 microduplication remains difficult in daily practice, mainly because the same duplication may be associated with very different clinical outcomes. In this study, we reviewed fetuses diagnosed with 16p13.11 microduplication at our center and summarized their prenatal findings, pregnancy outcomes, and postnatal development to provide data that may be useful in prenatal counseling.
METHODS: We retrospectively reviewed 12,038 pregnant women who underwent amniocentesis at Wenzhou Central Hospital between 2014 and 2025. Chromosomal microarray analysis was performed in all cases. For fetuses carrying 16p13.11 microduplication, we reviewed the indication for amniocentesis, ultrasound findings, pregnancy outcome, and available postnatal follow-up information.
RESULTS: Chromosomal microarray analysis (CMA) identified 16p13.11 microduplication in 19 fetuses, with duplication sizes ranging from 0.80 to 1.60 Mb. The main indications for prenatal diagnosis were advanced maternal age (n = 7), adverse pregnancy history (n = 5), ultrasound abnormalities (n = 4), and high-risk serum screening results (n = 3). Three pregnancies were terminated. Sixteen infants were live-born, of whom two were lost to follow-up. Among the remaining 14 children, the follow-up period ranged from 10 months to 10 years. One infant was hospitalized at birth for a ventricular septal defect, and one child showed growth and developmental delay. Five children showed better growth and development than their peers, whereas seven had no apparent abnormalities during follow-up.
CONCLUSION: The follow-up results in our cohort are consistent with the incomplete penetrance and variable outcomes reported for 16p13.11 microduplication. In this cohort, most live-born children showed mild or no clinical manifestations. In prenatal counseling, this CNV should be discussed together with fetal imaging results, inheritance pattern, family history, and available follow-up data rather than interpreted as an isolated finding.
METHODS: We retrospectively reviewed 12,038 pregnant women who underwent amniocentesis at Wenzhou Central Hospital between 2014 and 2025. Chromosomal microarray analysis was performed in all cases. For fetuses carrying 16p13.11 microduplication, we reviewed the indication for amniocentesis, ultrasound findings, pregnancy outcome, and available postnatal follow-up information.
RESULTS: Chromosomal microarray analysis (CMA) identified 16p13.11 microduplication in 19 fetuses, with duplication sizes ranging from 0.80 to 1.60 Mb. The main indications for prenatal diagnosis were advanced maternal age (n = 7), adverse pregnancy history (n = 5), ultrasound abnormalities (n = 4), and high-risk serum screening results (n = 3). Three pregnancies were terminated. Sixteen infants were live-born, of whom two were lost to follow-up. Among the remaining 14 children, the follow-up period ranged from 10 months to 10 years. One infant was hospitalized at birth for a ventricular septal defect, and one child showed growth and developmental delay. Five children showed better growth and development than their peers, whereas seven had no apparent abnormalities during follow-up.
CONCLUSION: The follow-up results in our cohort are consistent with the incomplete penetrance and variable outcomes reported for 16p13.11 microduplication. In this cohort, most live-born children showed mild or no clinical manifestations. In prenatal counseling, this CNV should be discussed together with fetal imaging results, inheritance pattern, family history, and available follow-up data rather than interpreted as an isolated finding.