DI George Syndrome in Newborns Conceived From Assisted Reproductive Techniques: Is Preimplantation Screening Necessary? A Discussion of Two Cases

Abstract

Background: Assisted reproductive techniques are increasingly used, and thus the use of tests for the identification of possible genetic errors in the embryo should be optimized, which translate to the occurrence of congenital diseases in newborns. DiGeorge syndrome (DGS) is a severe genetic syndrome that implies a higher risk of complex congenital heart diseases and metabolic and immunological abnormalities. Reports of DGS in newborns conceived via intracytoplasmic sperm injection (ICSI) are limited to only two cases, one of which involved a diagnosis in the implanted embryo, resulting in pregnancy termination. We present two cases of DGS in two pregnancies conceived via ICSI, without prenatal diagnosis and with complex congenital heart disease. Case presentation: Case 1 involves a full-term female newborn, conceived via ICSI, without prenatal diagnosis of structural anomalies. At birth, the patient presented with hypotonia, hypocalcemia, seizures, and phenotypic characteristics of DGS; she also had congenital heart disease characterized by interruption of the aortic arch. A successful surgical repair of the congenital heart disease was performed, and the patient required oral calcium supplementation and anticonvulsants upon hospital discharge. Case 2 involves a preterm male newborn, conceived via ICSI in a surrogate uterus, born with cyanosis, hypotonia, retrognathia, a short neck, and other minor abnormalities. He was diagnosed with Tetralogy of Fallot and hypocalcemia; surgical correction of the heart disease was performed at 6 months of age, and he required oral calcium supplementation. Both cases had follow-ups at one year of age, without complications, and with a confirmed genetic diagnosis of DGS. Conclusions: DGS is a genetic syndrome associated with anatomical and immunological abnormalities that can potentially compromise the life of the newborn, including complex congenital heart disease. Its association with assisted reproductive techniques is limited. It is necessary to consider preimplantation screening when there is a suspected increased risk of DGS, especially with a family history of this syndrome. Preimplantation diagnosis should be considered based on the individual characteristics of the gestational carrier, the father, and the findings of congenital anomalies associated with this disease.