Author/Authors :
Alam, Areej Dow University of Health Sciences - Dow Medical College, Pakistan , Adhi, Mehreen Tufts University - School of Medicine - Department of Ophthalmolog, USA , Bano, Raffat Aga Khan Hospital for Women - Department of Obs Gyn, Pakistan , Zubair, Aisha Dow University of Health Sciences - Dow Medical College, Pakistan , Mushtaq, Ammara Dow University of Health Sciences - Dow Medical College, Pakistan
Abstract :
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
