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Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion

8 Dec 2022

Abstract excerpt

(1) Objective: To investigate the prenatal diagnosis and genetic counseling for 16p11.2 microdeletion syndrome and to evaluate its pregnancy outcome. (2) Methods: This study included 4968 pregnant women who selected invasive prenatal diagnoses from 1 January 2017 to 1 August 2022. These 4698 pregnancies underwent chromosomal microarray analysis (CMA), data on 81 fetuses diagnosed with 16p11.2 microdeletion...

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PMID: 36553582
DOI: 10.3390/genes13122315

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