Abstract

Stefania Tudorache, Florin Burada, Maria Florea*, Roxana Dragusin, Laurentiu Ciprian Patru and Dominic Gabriel Iliescu

ABSTRACT

Objective: To report a first trimester (FT) suspicion of minor abnormality of great vessels with normal fetal heart. In the second trimester a 22q11.2 deletion syndrome was diagnosed. Extensive review of the literature is presented in relation to our findings. Case Report: A 26-year-old woman, gravida 9, para 0, was referred to our Prenatal Diagnostic Unit for the FT genetic, structural sonographic evaluation and genetic counselling. The ultrasound (US) revealed a singleton fetus with normal heart and right aortic arch (RAA) - left ductus arteriosus (LD), and no additional structural anomalies. The chorionic villus sampling was offered to the patient, but the parents declined the procedure and decided to undergo early second-trimester (ST) evaluation. The ST US confirmed the great vessels abnormality described in the late FT scan. Amniocentesis was performed. Conventional cytogenetic analysis of cultured amniocytes revealed a normal female karyotype 46, XX. Metaphase fluorescence in situ hybridization (FISH) analysis on cultured amniocytes confirmed the 22q11.2 deletion. After multidisciplinary counselling, the couple requested termination, and the institution ethics board approved the therapeutic medical termination of pregnancy. The conventional autopsy confirmed all antenatally suspected morphological abnormalities. Conclusion: The FT suspicion of congenital anomalies raise the operators’ awareness and has the potential to increase detection rates in the ST. The prenatal US finding of congenital heart/great vessels defects indicate a fetus with an increased risk for chromosome abnormalities. Studies for 22q11 deletion syndrome should be considered an adjunct to conventional karyotyping. FISH analysis is a valuable test for the diagnosis of 22q11 deletion syndrome.