DOI: 10.36347/sjmcr.2017.v05i03.014

Pages: 174-176

Patau syndrome is a congenital disorder associated with trisomy 13. The extra chromosome 13 causes numerous fetal structural defects specially of the central nervous system, cardiovascular system and urogenital system. Major structural anomalies are occasionally identified in the late first or early second trimester. Other anomalies will be visible on ultrasound done around 20 weeks. Any discovery of multiple structural anomalies in a foetus increases the chances of chromosomal anomalies and women should be offered amniocentesis or other invasive tests to establish the foetal karyotype. Following a confirmed prenatal diagnosis of Patau syndrome, the decision to be made is either to terminate the pregnancy or to manage it conservatively. Most pregnancies will result in miscarriage or death in utero but some survive the first few weeks of life. Here we present a case of Patau syndrome which was diagnosed prenatally due to the presence of omphalocele and congenital cardiac abnormalities. This was followed by amniocentesis which confirmed the diagnosis. Pregnancy termination was offered to her but declined. Ultimately the foetus died in utero and delivered later without any complications.