A LIVEBORN INFANT WITH TRIPLOIDY 69,XXX: CASE REPORT

Milica Komnenić, Bojana Petrović, Jasmina Tadić, Srboljub Milićević, Jelena Stamenković, Aleksandar Ljubić

DOI Number
-
First page
42
Last page
44

Abstract


Since liveborn babies with triploidy are quite rare, we report here a new case of a liveborn female baby, with a karyotype 69,XXX. Ultrasound examination of the fetus, in the 37th week (9th month) of uncontrolled pregnancy, discovered severe intrauterine growth restriction and olygoamnion. A sample of fetal blood was taken by cordocentesis, in order to analyze fetal chromosomes. Two days later, the liveborn child was delivered by Cesarean section and died the same day, 7 hours and 55 minutes later, due to respiratory insufficiency. Autopsy revealed deformity of the joints, ectrodactyly of feet, deformity of the face (large, low positioned ears, hypotelorism and hypoplastic mandibula), with irregular position of both hands, hypoplastic lungs, kidneys, suprarenal glands, gallbladder and thymus agenesis. Chromosome analysis performed from fetal blood lymphocytes taken by cordocentesis showed karyotype 69,XXX. We would like to emphasize the significance of a health education of pregnant women, in order to establish regular examinations, and thus improve diagnostic and disease management possibilities.


Key words: Triploidy, multiple anomalies, cordocentesis


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References


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