213 Case report: fetal malformations and 3P22.2P21.2 Deletion

Abstract

Introduction/aims of the study: We aim to expand the knowledge on the clinical presentation of deletions on 3p22.2p21.2 and describe a case with a prenatal diagnosis of this deletion. Methods: We describe a case report of prenatal diagnosis of congenital malformations with a 3p22.2p21.2 deletion. Results: A 38-years-old 2G0P healthy woman had a previous history of a miscarriage at 22 weeks (twin pregnancy). No malformations were described on these fetuses. No history of viral infection, radiation, or toxic exposure was described on the pregnancy described here. Her partner was healthy and the couple was non-consanguineous. The couplés family history was unremarkable. Prenatal ultrasound examination at 18 weeks revealed female genitalia, bilateral ventriculomegaly, single umbilical artery, and ventricular septal defect (VSD). Fetal echocardiography at 21 weeks confirmed the isolated perimembranous VSD. The magnetic resonance imaging performed at the 24 weeks showed corpus callosum agenesis with an absence of the pellucid septum. The couple was referred for a prenatal diagnosis and medical genetics appointments. Amniocentesis was performed at 19 weeks. The initial cytogenetic analysis demonstrated a normal male karyotype (46,XY). Smith-Lemli-Opitz syndrome was excluded by sequencing of DHCR7. Array-CGH analysis revealed a 9.5Mb deletion on the region 3p22.2p21.2 containing 182 genes. This deletion was not previously described in the literature, public databases or is compatible with known contiguous genes syndrome. The couple was informed about the findings and opted to terminate the pregnancy at 24 weeks of gestation. Clinical examination of the fetus confirmed the ambiguous genitalia. Conclusions: To our knowledge, no previous report described the association of deletions on 3p22.2p21.2 with severe congenital multisystemic malformations. With this report, we are expanding the knowledge of the effect of the haploinsufficiency of this region. Further studies are needed to understand what genes are responsible for the features described in our case