EP18.44: Ultrasound findings of triploidy at 16–17 weeks: a case report

Triploidy is a common chromosomal abnormality, but it often results in spontaneous miscarriage during the first trimester. The incidence of triploidy at 16 weeks of gestation is 1 in 30,000 pregnancies. In this study, we report on fetal ultrasound findings of triploidy in the second trimester. A 28-year-old primigravida woman was referred to our hospital due to severe asymmetrical fetal growth restriction (FGR) at 16 weeks+5 days. Ultrasound examination revealed severe asymmetrical FGR, ventriculomegaly, hypertelorism, single umbilical artery, micrognathia, cardiomegaly (Cardio-Thoracic Area Ratio was 37.1%), and oligohydramnios. Head circumference (HC) was -3.6 SD, and abdominal circumference (AC) was -5.8 SD, indicating relative macrocephaly. No cystic lesions were observed in the placenta. Due to severe FGR and multiple fetal abnormalities in the 2nd trimester, termination of pregnancy was performed at 17 weeks+6 days. The baby's 2/3 syndactyly of the finger was suspected, and hydrocephalus was noted. The chromosome analysis revealed an abnormal karyotype of the fetus (69, XXY, triploidy). In this case, initially, considering the various ultrasound findings, possibilities other than skeletal dysplasia or trisomy 21, 18, and 13 were considered, but the diagnosis of triploidy was not reached. Severe asymmetrical FGR with additional sonographic abnormalities are present, triploidy should be considered in the differential diagnosis. Ultrasound examination of the fetus before 20 weeks' gestation is important for identifying typical fetal abnormalities and FGR associated with triploidy. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.