Prenatal Diagnosis of Triploidy. Case Report and Literature Review

• Main Authors: Pedro Alí Díaz-Véliz Jiménez, Belkis del Carmen Vidal Hernández, Iliana González Santana
• Format: Article
• Language: Spanish
• Published: Universidad de las Ciencias Médicas de Cienfuegos 2021-04-01
• Series: Revista Finlay
• Subjects: diagnóstico prenatal; defectos congénitos; reporte de casos
• Online Access: http://www.revfinlay.sld.cu/index.php/finlay/article/view/913

Triploidy is a lethal numerical chromosomal alteration characterized by an additional haploid chromosomal complement, 99.9 % of these are lost between the first and second trimesters of pregnancy and 15 % of fetuses end in spontaneous abortions before 20 weeks. We present the case of a 27-year-old patient with 23.2 weeks of gestation who was referred to the Provincial Center of Medical Genetics of Cienfuegos with suspicion by ultrasound of fetal malformations. The diagnosis of abnormal cranial morphology was corroborated with absence of the cerebellar vermis, presence of the fourth ventricle, absence of cavum septum pellucidum, abnormal cardiac morphology, valves at the same level, and high ventricular septal defect. Chromosomal prenatal diagnosis was proposed, its result was fetus with chromosomal formula 69, XXY. Voluntary termination of pregnancy was considered. The pathology report reported that the fetus had the following congenital defects: cerebellar hypoplasia and agenesis of the cerebellar vermis, ventriculo-megaly, and complex atrioventricular canal-type heart disease. The objective of this presentation is to describe a case of triploidy-type polyploidy in amniotic fluid. The case is presented due to the infrequency of this genetic condition among live fetuses in the second trimester of pregnancy.