IMR Press / CEOG / Volume 38 / Issue 3 / pii/1630542856897-731284176

Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 46 Issue 1 (2019). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.

Open Access Case Report
Prenatal diagnosis of a digynic triploid fetus in the second trimester: transvaginal two-dimensional ultrasound, color Doppler and fetoplacental Doppler velocity waveform findings
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1 Istanbul Bilim University, Faculty of Medicine, Department of Obstetrics and Gynecology, Fetal Medicine Unit European Florence Nightingale Hospital
2 Marmara University, School of Medicine, Department of Obstetrics and Gynecology, Fetal Medicine Unit
3 Department of Obstetrics and Gynecology, Istanbul Goztepe Education and Research Hospital, Istanbul (Turkey)
Clin. Exp. Obstet. Gynecol. 2011, 38(3), 303–305;
Published: 10 September 2011
Abstract

Introduction: Triploidy in the second trimester is a sporadic, rare lethal chromosomal abnormality characterized by an extra haploid chromosome set (3n = 69). Doppler blood flow study in fetal triploidy syndrome is rarely reported in the literature. Case presentation: A 19-year-old woman at 18 weeks of gestation was referred to our fetal medicine unit. Examination revealed a digynic triploid fetus presenting with asymmetric intrauterine growth restriction, oligohydramnios, relative macrocephaly together with a small thin trunk, low-set ears, micrognathia, bilateral talipes, bilateral syndactyly on the third, fourth and fifth fingers and toes, a large ventricular septal defect, bradycardia, bilateral hyperechogenic kidneys and small placenta. The pattern of abnormalities suggested that the extra set of chromosomes was maternal in origin. Although bilateral maternal uterine artery Doppler measurements were normal, there was increased resistance to blood flow in the umbilical artery and reversed flow in the ductus venosus which were probably due to abnormal placental development and severe intrauterine growth retardation. Conclusion: It can be assumed that among the most frequent indicators of triploidy are the sonographic proof of the existence of early retardation of growth and the presence of oligohydramnios together with other malformations. Triploidy must be in the differential diagnosis and karyotyping is advised in these cases.
Keywords
Digynic triploidy
Ultrasound anomaly screening
Fetal malformation
Doppler
Chorion villus sampling
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