Molecular genetics & genomic medicine
Prenatal Diagnosis and Postnatal Follow-Up of 19 Fetuses With 16p13.11 Microduplication in a Cohort of 12,038 Pregnancies From South Zhejiang
By Lv X, Li S, Zhou L and 6 others.
Abstract
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.