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A new approach for Next Generation Sequencing in prenatal diagnosis applied to a case of Charcot–Marie–Tooth syndrome
Author(s) -
Dello Russo Claudio,
Padula Francesco,
Di Giacomo Gianluca,
Mesoraca Alvaro,
Gabrielli Ivan,
Bizzoco Domenico,
Giorlandino Claudio
Publication year - 2015
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4627
Subject(s) - prenatal diagnosis , medicine , exome sequencing , aneuploidy , genetic disorder , exome , genetic diagnosis , genetic testing , copy number variation , bioinformatics , phenotype , genetics , pregnancy , gene , genome , fetus , biology , pathology , disease , chromosome
What's already known about this topic? To date, a great effort has been made to introduce NGS prenatal diagnosis, both in noninvasive prenatal testing for the detection of aneuploidy associated to chromosomes 21, 18 and 13 and, in the latest studies, for single gene disorder analysis, and in invasive prenatal diagnosis for single gene disorder and whole exome or whole genome studies.What does this study add? We have introduced a new target resequencing NGS approach in prenatal diagnosis for the screening of a wide range of genetic disorders. Our method is applicable to high‐risk pregnancies when an ultrasound screening fails to show a definite clinical phenotype, when ultrasound indications must be supported by a molecular genetic diagnosis or in cases where one or both parents are carriers of a genetic disorder.

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