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  • Title: Whole-exome sequencing in fetuses with central nervous system abnormalities.
    Author: Reches A, Hiersch L, Simchoni S, Barel D, Greenberg R, Ben Sira L, Malinger G, Yaron Y.
    Journal: J Perinatol; 2018 Oct; 38(10):1301-1308. PubMed ID: 30108342.
    Abstract:
    OBJECTIVE: We describe our experience with whole-exome sequencing (WES) in fetuses with central nervous system (CNS) abnormalities following a normal chromosomal microarray result. METHODS: During the study period (2014-2017) 7 cases (9 fetuses) with prenatally diagnosed CNS abnormality, whose chromosomal microarray analysis was negative, were offered whole-exome sequencing analysis. RESULTS: A pathogenic or a likely pathogenic variant was found in 5 cases including a previously described, likely pathogenic de novo TUBA1A variant (Case #1); a previously described homozygous VRK1 variant (Case #2); an X-linked ARX variant (Case #3); a likely pathogenic heterozygous variant in the TUBB3 gene (Case #5). Finally, in two fetuses of the same couple (Case #6), a compound heterozygous state was detected, consisting of the NPHP1 gene deletion and a sequence variant of uncertain significance. Two additional cases had normal WES results. CONCLUSION: Whole-exome sequencing may improve prenatal diagnosis in fetuses with CNS abnormalities.
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