The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing

The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing

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' gestati...

Down Syndrome and Di George Syndrome: a Case Report

We present a case report of a newborn girl that was admitted at the University Childrens Hospital Braşov Romania, for dehydration and cyanosis. She also presented with the characteristic features of Down syndrome associated to symptomes of Di George syndrome. She presented with persistent hypocalcemia, IgA hypogamaglobulinemia and tymus agenesis that was seen on the radiographic image. Down syn...

Clinical outcome of subchromosomal events detected by whole‐genome noninvasive prenatal testing

OBJECTIVE A novel algorithm to identify fetal microdeletion events in maternal plasma has been developed and used in clinical laboratory-based noninvasive prenatal testing. We used this approach to identify the subchromosomal events 5pdel, 22q11del, 15qdel, 1p36del, 4pdel, 11qdel, and 8qdel in routine testing. We describe the clinical outcomes of those samples identified with these subchromosom...

study of cohesive devices in the textbook of english for the students of apsychology by rastegarpour

this study investigates the cohesive devices used in the textbook of english for the students of psychology. the research questions and hypotheses in the present study are based on what frequency and distribution of grammatical and lexical cohesive devices are. then, to answer the questions all grammatical and lexical cohesive devices in reading comprehension passages from 6 units of 21units th...

Combined first trimester screen or noninvasive prenatal testing or both.