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Abstract

Objective: In this study, the aim of prenatal screening was to estimate the carrier frequency of the three mutations 35delG, del (GJB6-D13S1830), and del (GJB6-D13S1854), which are known to be the leading mutations of hereditary hearing loss in European populations. Methods: We performed a prenatal screening to assess the carrier frequency of the most common mutations at the DFNB1 gene locus in the general population. Samples of amniotic fluid (n=339) and chorionic villi (n=11) were taken from an unselected group of 350 unrelated pregnant women with normal hearing. Genomic fetal DNA was extracted and analyzed by PCR multiplex assays. Results: The rate of carriers for the 35delG GJB2 mutation was 3.14%, comparable to that of most Southeastern European populations. All samples were negative for GJB6-D13S1830 and GJB6-D13S1854 deletions. The genetic tests were considered for carrier detection and early diagnosis rather than termination of pregnancy. Conclusions: Our study suggests a need for detecting the carriers. This is the first step for the construction of a national database and provides information for health planners and policy makers to help them in planning programs and allocation resources. The molecular testing was well received by pregnant women and appears to be feasible and highly acceptable.

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Prenatal Screening for the 35delG GJB2,Del ( GJB6-D13S1830 ),and Del ( GJB6-D13S1854 ) Mutations in the Romanian Population

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