Ultrasonography feature and Clinical Finding of Trisomy 13 (Patau Syndrome): A Case Report

Abstract

Abstrack Background: Trisomy 13 is a trisomy disorder of chromosome 13 which causes many fetal structural defects. The prognosis is very poor and the majority is still birth. Major structural anomalies are occasionally identified in the late-first or early-second trimester. Any discovery of multiple structural anomalies in the fetus increases the chances of chromosomal anomalies. Case Report: Here we report trisomy 13 case of A 34-years-old housewife, third gravida, prenatal diagnosis during antenatal ultrasonography showed diaphragmatic hernias, cardiovascular dextroposition, ventricular septal defect, labiognatopalatoschizis and renal dextra pyeletaxis. From the chromosomal analysis, the fetal karyotype was 47 XY+13. A male infant was born with weight of 2600 grams, 46 cm, cyanosis, and severe respiratory distress with congenital abnormalities of micrognathia, diaphragmatic hernia, dextrocardia, ventricular septal defect, persistent pulmonary hypertension of newborn, undescended testis, labiognatopalatoshizis, and polydactily. Discussion: Prenatal diagnosis can be done through amniocentesis for karyotyping which is the gold standard for diagnosis trisomy 13. In addition, screening can also be done since the first trimester. Conclusion: All pregnancies in second trimester must be evaluated for structural abnormalities through ultrasonography and cytogenetic examination if necessary for early diagnosed.