Prenatal Diagnosis, Ultrasound Findings, and Follow-Up Evaluation of 16p13.11 Deletion and Duplication Syndromes: Preliminary Assessment of Fetal Genotype-Phenotype.

Abstract

Objective: To analyze the ultrasound findings, single nucleotide polymorphism microarray (SNP array) results, pregnancy outcomes, and follow-up information of fetuses with 16p13.11 deletion or duplication.

Methods: This retrospective study collected data from 14 fetuses diagnosed with 16p13.11 deletion and 12 fetuses with 16p13.11 duplication. The study involved a review and analysis of maternal demographics, ultrasound findings, SNP-array results, pregnancy outcomes, and follow-up information.

Results: The copy number variations (CNVs) observed ranged in size from 0.92 to 2.85 Mb for 16p13.11 deletions and from 0.89 to 2.84 Mb for duplications. These CNVs included seven OMIM genes: NDE1, MYH11, ABCC1, XYLT1, MARF1, CEP20, and ABCC6. Among the 14 fetuses with 16p13.11 deletions, seven (50.0%, 7/14) revealed abnormalities in ultrasound findings. Cardiovascular anomalies were present in five cases (35.7%, 5/14); two cases (14.3%, 2/14) showed lateral ventricular widening. Cases 2 and 14 were particularly noteworthy, as both presented complex malformations affecting multiple organs. Among the 12 fetuses with duplications, five cases (41.7%, 5/12) exhibited ultrasound abnormalities. Of these, three cases (25.0%, 3/12) presented with cardiovascular abnormalities; two cases (16.7%, 2/12) displayed widened lateral ventricles. Case 25 was particularly distinct, featuring complex multiorgan malformations that included widened lateral ventricles, tricuspid regurgitation, and a right ear malformation. Of the eight fetuses with 16p13.11 deletions whose pregnancies were continued, three exhibited neurodevelopmental abnormalities. Ten fetuses with 16p13.11 duplications that were followed up, two cases showed neurodevelopmental abnormalities.

Conclusion: Our study expanded the clinical phenotype spectrum of fetuses with 16p13.11 deletion and duplication and conducted a preliminary evaluation of prenatal ultrasound findings in conjunction with postnatal clinical phenotypes. The primary manifestations observed in fetuses with 16p13.11 deletion and duplication are likely to be cardiovascular malformations and widened lateral ventricles.