Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 16p13.11 microduplications

16p13.11 microduplication is a frequently observed chromosomal abnormality in newborns. However, prenatal reports for this chromosome microscopic imbalance are rare in clinical practice. This study aimed to provide a systematic summary of prenatal phenotypes for this genomic disorder. Between April 2019 and May 2023, 10 pregnant women underwent amniocentesis due to fetal ultrasound abnormalities, advanced maternal age, or other prenatal diagnostic indications. After obtaining informed consent, chromosomal microarray analysis and G-banding were performed. Karyotype results were normal for all fetuses except in 2 cases (P2 and P5). Chromosomal microarray analysis detected 0.79 to 1.639 Mb duplications of 16p13.11 (chr16: 14806186-16444739, hg38) in all 10 cases, involving 4 morbid genes (NDE1, MYH11, ABCC1, and ABCC6) in common. Eight women (P1-P8) continued their pregnancies and delivered healthy infants at term, while the parents of cases 9 and 10 terminated their pregnancies. All neonates exhibited good health states without obvious abnormalities observed. The prenatal phenotypes of 16p13.11 duplications were primarily associated with abnormal soft markers, including increased nuchal translucency, ventriculomegaly, and enhanced intestinal echo. However, further evidence is needed to explore prenatal genotype-phenotype correlations. For prenatally diagnosed cases carrying 16p13.11 microduplications, long-term follow-up should be carried out to acquire their postnatal health conditions and growth details.