S Hashimoto, L Igarashi, M Kobayashi, H Tsutsumi

Abstract

Almost all triploid fetuses abort spontaneously in the first trimester; live-born triploid infants are rare. We herein report a triploid infant who survived for >250 days. The infant was delivered at 33 weeks 4 days of gestation because of severe fetal growth restriction. The birth weight was 1,108 g, and multiple malformations were present. Chromosomal analysis demonstrated a karyotype of 69,XXY. At the time of this report, she lived at home and was 280 days old. A review of triploid infants revealed that the relatively unique clinical features of triploidy were syndactyly of the third and fourth fingers and abnormal erythrocyte indices. The associated karyotypes were 69,XXX and 69,XXY but not 69,XYY. Two of five infants died of pneumonia. Two infants, including the infant described herein, developed infantile spasms after the age of 200 days. Triploid infants with long-term survival are at high risk of developing pneumonia and infantile spasms.