Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage

Meckel-gruber syndrome (mks) is a rare, autosomal recessive genetic disorder, incompatible with life. it is characterized by enlarged polycystic kidneys and post axial polydactyly. foetal or neonatal death is caused by pulmonary hypoplasia. we report a case of a 35 year old woman who presented at 7 weeks of gestation of her sixth pregnancy. a transabdominal anomaly ultrasound performed for her current pregnancy at 18 weeks of gestation showed features consistent with mks. the termination of pregnancy was declined and a live newborn female was delivered via an emergency caeserean section at 34 weeks of gestation due to previous history of lower segment caesarean section (lscs) & leaking. physical examination of the neonate confirmed the features of mks. the neonate died within 4-5 hours of birth. this case represented a second trimester diagnosis of a recurrent case of mks in a non-consanguineous marriage