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' 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.
Department of Medicine and Surgery (DIMEC), Division of Obstetrics and Gynecology, University of Bologna, Via Massarenti 13, 40138 Bologna, Italy.
Giuseppina
G
Rapacchia
Geneticlab, Via Corte Ferrighi 16, Noventa Vicentina, 36025 Vicenza, Italy.
Cristina
C
Lapucci
Department of Medicine and Surgery (DIMEC), Division of Obstetrics and Gynecology, University of Bologna, Via Massarenti 13, 40138 Bologna, Italy.
Maria Carla
MC
Pittalis
Department of Medicine and Surgery (DIMEC), Division of Obstetrics and Gynecology, University of Bologna, Via Massarenti 13, 40138 Bologna, Italy.
Aly
A
Youssef
Department of Medicine and Surgery (DIMEC), Division of Obstetrics and Gynecology, University of Bologna, Via Massarenti 13, 40138 Bologna, Italy.
Antonio
A
Farina