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Prenatal diagnosis of tetraploidy

P Sagot1, M F Nomballais, A David

  • 1Département de Gynécologie Obstétrique, Biologie de la Reproduction, Centre Hospitalier Régional Universitaire de Nantes, France.

A pregnancy was terminated at 24 weeks of amenorrhea when tetraploidy (92 XXXX) was diagnosed in fetal blood subsequent to ultrasonographic detection of a polymalformation syndrome. The severity of the neurological deficit in tetraploid infants and their death before 2 years of age require that prenatal diagnosis by cordocentesis be performed for analysis of fetal blood in cases of equivocal and nonspecific polymalformation syndrome and justify that medically-induced termination of pregnancy is suggested in the event of intrauterine tetraploidy diagnosis.

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