P61The possible impact of storing fetal samples collected during prenatal invasive procedures: case report

Abstract

MGB, 34 years‐old, primigravida, conceived after IVF (still has 08 frozen embryos). At 21 weeks + 2 days the anomaly scan showed mild dilatation of fetal cerebral ventricles and a multicystic right kidney with mild nasal bone hypoplasia. Fetal growth was considered normal (20 weeks + 3 days based on biometry). Karyotipe obtained at 23 weeks showed a normal male (46, XY). By that time ventricular dilatation had increased but head circumference was normal for gestational age. Delivery occurred at 24 weeks. Postnatal examination showed smooth brain, ventricular dilatation, agenesis of corpus calosus and cystic dysplasia of right kidney. Lisencephaly was suspected and fish test targeting microdeletion of chromosome 17 was performed in the frozen cells obtained at amniocentesis, which showed negative results. Parents were counselled with the maximum risk of recurrence of an autosomal recessive disease for the next pregnancy.DiscussionThe recent advances in the genetics field will soon offer us the possibility of diagnosing an increasing number of diseases that can have an impact in counselling. If we could diagnose de Mieller–Dieker syndrome in this fetus we could have changed the empirical risk of 25% recurrence in counselling for a future pregnancy. This is because, if none of the parents was found to be a carrier of the microdeletion, we could postulate that this was a ‘de novo’ mutation (happens in 80% of the cases) and the risk for the next pregnancy should be negligible.