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

Case Reports in Obstetrics and Gynecology
Giuseppina RapacchiaAntonio Farina

Abstract

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.

References

Aug 26, 1998·Journal of the American College of Cardiology·E GoldmuntzD A Driscoll
Jun 17, 2004·BJOG : an International Journal of Obstetrics and Gynaecology·N J WaldA Rudnicka
Oct 7, 2005·American Journal of Medical Genetics. Part a·Anne S BassettMichael A Gatzoulis
Oct 24, 2007·Lancet·Lisa J Kobrynski, Kathleen E Sullivan
Oct 19, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Glenn E PalomakiJacob A Canick
Mar 27, 2012·Gene·Irene Mademont-SolerAurora Sánchez
Feb 28, 2014·The New England Journal of Medicine·Diana W BianchiUNKNOWN CARE Study Group
Jul 9, 2014·Obstetrics and Gynecology·Eugene PergamentMatthew Rabinowitz
Sep 25, 2014·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·M S QuezadaK H Nicolaides
Dec 6, 2014·American Journal of Obstetrics and Gynecology·Ronald J WapnerPeter Benn

❮ Previous
Next ❯

Software Mentioned

Panorama
NATUS
Panorama Plus

Related Concepts

Related Feeds

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.