A new approach for Next Generation Sequencing in prenatal diagnosis applied to a case of Charcot–Marie–Tooth syndrome. (23rd June 2015)

• Record Type: Journal Article
• Authors: Dello Russo, Claudio; Padula, Francesco; Di Giacomo, Gianluca; Mesoraca, Alvaro; Gabrielli, Ivan; Bizzoco, Domenico; Giorlandino, Claudio; Chitty, Lyn S.; Bianchi, Diana W.
• Is Part Of: Prenatal diagnosis. Volume 35:Number 10(2015:Oct.)
• Page Start: 1018
• Page End: 1021
• Publication Date: 2015-06-23
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4627
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="short" id="pd4627-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <bold>What's already known about this topic?</bold> <list id="pd4627-list-0001" list-type="bullet"> <list-item id="pd4627-li-0001"> <p>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.</p> </list-item> </list> </p> <p> <bold>What does this study add?</bold> <list id="pd4627-list-0002" list-type="bullet"> <list-item id="pd4627-li-0002"> <p>We have introduced a new target resequencing NGS approach in prenatal diagnosis for the screening of a wide range of genetic disorders.</p> </list-item> <list-item id="pd4627-li-0003"> <p>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.</p> </list-item> </list> </p> </abstract>