Typical Morphological Features on Prenatal Ultrasound of Fetuses With Trisomy 13 (Pataus Syndrome)

Abstract

Background: Trisomy 13 (Pataus syndrome) is a devastating chromosomal abnormality with a poor prognosis. Fetal ultrasound is an effective screening method for early detection of trisomy 13. This study aimed to describe the typical morphological features detected on prenatal ultrasound in fetuses with trisomy 13 at Vietnam National Hospital of Obstetrics and Gynecology from 2012 to 2021.

Methods: This was a retrospective, descriptive cross-sectional study of 50 fetuses with trisomy 13, compared to 4,166 normal fetuses. Maternal age and medical history were collected. Fetal ultrasound was performed in the first and second trimesters, and major structural abnormalities were recorded. The data were analyzed using descriptive statistics.

Results: Trisomy 13 was detected in 98% of fetuses on ultrasound in the first and second trimesters. Of the 23 fetuses examined in the first trimester, 18 had increased nuchal translucency (NT ? 3 mm). The major structural abnormalities detected in fetuses with trisomy 13 included facial malformations (53.85%), brain anomalies (26.92%), heart defects (26.92%), abdominal wall abnormalities (23.08%), and kidney anomalies (26.92%). Nine cases of trisomy 13 (18%) were not detected on ultrasound.

Conclusions: Increased NT and major structural abnormalities are suggestive signs for early screening of trisomy 13 by ultrasound. The combination of fetal ultrasound with other prenatal screening methods provides good results for the early detection of fetal abnormalities. This study provides important information on the typical morphological features detected on prenatal ultrasound in fetuses with trisomy 13, which can aid in counseling and decision-making for affected families.

J Clin Gynecol Obstet. 2023;12(1):8-14
doi: https://doi.org/10.14740/jcgo848