Prenatal diagnosis of factor 13 deficiency and its recurrence

Abstract

A young third gravida was referred with prenatal diagnosis of factor XIII deficiency at 20 weeks of pregnancy for Medical Termination of Pregnancy (MTP). Her first baby, who was born by emergency Lower Segment Caesarean Section (LSCS) for fetal distress, had intracranial haemorrhage in the early neonatal period and was investigated elsewhere and diagnosed to have factor XIII deficiency. The child currently has global developmental delay and cerebral palsy. The mother had a second-degree consanguineous marriage and the couple were diagnosed to be carriers of factor XIII deficiency. She had lot of barriers to get prenatal diagnosis during the second pregnancy and it ended up in Intra Uterine Fetal Death (IUFD) at 27 weeks. During the current pregnancy, prenatal diagnosis (PND) was done only after the second trimester amniocentesis and the genetic mutation was F13 A1, Ex12, C.1687 G>A. Second trimester MTP in a previous scarred uterus was difficult as it is essential to avoid scar rupture. PND during the first trimester is ideal.