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

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.

Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women

“…After Down syndrome, 22q11.2 deletion syndrome is the second most common cause of congenital heart disease and is an important consideration whenever a conotruncal cardiac anomaly is identified, in particular Tetralogy of Fallot. Additional developmental disabilities are often also present [15–17].…”

“…All cases were confirmed by the FISH method to be normal. FISH has been the gold-standard method for the diagnosis of microdeletion syndrome, but current FISH probes may not be able to detect all 22q11.2 deletions in the critical region; thus, it is possible that some cases that appeared to be false positive were in fact true positive [15–17].…”