A new approach for Next Generation Sequencing in prenatal diagnosis applied to a case of Charcot-Marie-Tooth syndrome

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 in...

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Bibliographic Details
Published in:Prenatal diagnosis 2015-10, Vol.35 (10), p.1018-1021
Main Authors: Dello Russo, Claudio, Padula, Francesco, Di Giacomo, Gianluca, Mesoraca, Alvaro, Gabrielli, Ivan, Bizzoco, Domenico, Giorlandino, Claudio
Format: Article
Language:English
Subjects:
Charcot-Marie-Tooth Disease - diagnosis
Female
Genes
High-Throughput Nucleotide Sequencing
Humans
Pregnancy
Prenatal Diagnosis - methods
Ultrasonic imaging
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Summary: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.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.4627