![](/images/graphics-bg.png)
The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing
Joint Authors
Rapacchia, Giuseppina
Lapucci, Cristina
Pittalis, Maria Carla
Youssef, Aly
Farina, Antonio
Source
Case Reports in Obstetrics and Gynecology
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-08-05
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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 probe amplification) and an ultrasound aimed to detect the features associated with the syndrome.
A right aortic arch and suspect of thymus atrophy were detected, but not other severe malformations typical of the disease.
The patient terminated the pregnancy at 17 weeks.
NIPT allowed an early screening of Di George syndrome.
As the patient was at low risk, it is likely that an ultrasound would have missed the condition.
American Psychological Association (APA)
Rapacchia, Giuseppina& Lapucci, Cristina& Pittalis, Maria Carla& Youssef, Aly& Farina, Antonio. 2015. The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing. Case Reports in Obstetrics and Gynecology،Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1059192
Modern Language Association (MLA)
Rapacchia, Giuseppina…[et al.]. The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing. Case Reports in Obstetrics and Gynecology No. 2015 (2015), pp.1-3.
https://search.emarefa.net/detail/BIM-1059192
American Medical Association (AMA)
Rapacchia, Giuseppina& Lapucci, Cristina& Pittalis, Maria Carla& Youssef, Aly& Farina, Antonio. The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing. Case Reports in Obstetrics and Gynecology. 2015. Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1059192
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1059192