DiGeorge Syndrome in newborns conceived from assisted reproductive techniques: is preimplantation screening necessary? A discussion of two cases.

Abstract

Background: Assisted reproductive techniques are increasingly common, necessitating optimized genetic testing for embryos to reduce congenital disease risks. DiGeorge syndrome (DGS) is a severe genetic condition linked to complex congenital heart diseases and immunological issues. Reports of DGS in newborns conceived via intracytoplasmic sperm injection (ICSI) are scarce, with only two documented cases, one leading to pregnancy termination after diagnosis in the embryo.

Case presentation: Case 1 is a full-term female newborn from an ICSI conception, born without a prenatal diagnosis. She exhibited hypotonia, hypocalcemia, seizures, and features of DGS, alongside congenital heart disease due to interrupted aortic arch. Surgical repair was successful, and she required calcium and anticonvulsant therapy upon discharge. Case 2 is a preterm male newborn, also conceived via ICSI in a surrogate, presenting with cyanosis, hypotonia, and other abnormalities. He was diagnosed with Tetralogy of Fallot and hypocalcemia, undergoing surgical correction at 6 months. Both cases had follow-ups at one year, showing no complications and confirmed DGS diagnoses.

Conclusions: DGS poses significant risks for newborns, including heart defects. Given its limited association with assisted reproductive techniques, preimplantation genetic screening should be considered, particularly for families with a history of DGS and concerning findings in embryos.