Fetal abnormality (Goldenhar syndrome) occurring in one of triplet infants derived from in vitro fertilization with possible monozygotic twinning.

Abstract

Of 36 infants delivered following conception by in vitro fertilization (IVF), 1 case of significant fetal abnormality has been detected. The infant is one of male triplets exposed to medroxyprogesterone acetate (MPA) in utero and demonstrates abnormalities of the ear, vertebral column, and ribs which fit clearly into the oculoauriculovertebral syndrome described by Goldenhar and which have been reported in monozygotic twins with discordance. Marker studies including eight blood groups, HLA haplotype assignments, and banding studies of the chromosomes indicate that the infant and one of his brothers may well be identical (P less than 0.001 for dizygosity) except for the Fy(a) antigen. It is deduced that the fetal abnormality is not causally related either to MPA exposure or to the techniques applied during fertilization and early embryo culture, and furthermore, if the infant is the monozygotic twin of one of his brothers, the two phenomena are unrelated, as each was likely to have occurred at different stages of embryonic development.