Ontology highlight
ABSTRACT:
SUBMITTER: Rapacchia G
PROVIDER: S-EPMC4540993 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Rapacchia Giuseppina G Lapucci Cristina C Pittalis Maria Carla MC Youssef Aly A Farina Antonio A
Case reports in obstetrics and gynecology 20150805
Panorama Plus (Natera), a single-nucleotide polymorphism- (SNP-) based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks' gestation. The patient had an amniocentesis to confirm the diagnosis by MLPA (multiplex ligation-dependent pro ...[more]