First report of prenatal diagnosis of genetic congenital deafness in a routine prenatal genetic test

Objective We aimed to screen for connexin26 gene (GJB2) mutations associated with autosomal recessive non‐syndromic neurosensory deafness (NSRD) in a general risk population. Methods Screening for the most common connexin26 gene mutations was offered to all women undergoing a second‐trimester amnioc...

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Veröffentlicht in:	Prenatal diagnosis 2003-12, Vol.23 (13), p.1083-1085
Hauptverfasser:	Santoro, M. L., Mobili, L., Mesoraca, A., Giorlandino, C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences congenital deafness Connexin 26 connexin26 gene Connexins - genetics Deafness - diagnosis Deafness - embryology Deafness - epidemiology Deafness - genetics DNA Primers Female Genes, Recessive - genetics Genetic Testing GJB2 gene Gynecology. Andrology. Obstetrics Humans Italy - epidemiology Management. Prenatal diagnosis Medical sciences Mutation PCR Polymerase Chain Reaction Predictive Value of Tests Pregnancy Pregnancy. Fetus. Placenta Prenatal Diagnosis Prevalence sequencing DNA
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