Prenatal Diagnosis of Tetraploidy

Abstract

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 tetra-ploid infants and their death befor 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.

A case of complete tetraploidy in amniocentesis with normal karyotype in subsequent cordocentesis

“…Having found tetraploidy in amniocentesis, we did an extensive literature study. Due to conflicting reports on the source of the tetraploidy in vitro culture of fetal cells [9][10][11][12], we decided to do cordocentesis to determine the source of the tetraploidy and in order to understand whether the source of the tetraploidy is in vitro or in vivo culture of fetal cells.…”

Tetraploidy in a growth-retarded fetus with a thick placenta

“…Therefore we would recommend considering karyotyping in all cases with abnormal placenta and intra-uterine growth retardation, even if no morphological abnormalities can be documented on ultrasound. The sonographic abnormal appearance of the placenta could be added to the list of prenatal abnormal findings in tetraploid fetuses (Coe et al, 1993;Sagot et al, 1993;Sheppard et al, 1982). …”

Cytogenetic Abnormalities in Products of Conception: A Relationship Revisited

“…Such a significant difference was also noted between the mean gestational age of trisomies 13, 16 and 22 and that of normal karyotypes. The fact that abnormal conceptuses abort earlier, may account for the concentration of tetraploidies at <15 weeks of gestational age, tetraploidies being the most abnormal karyotypes described 26 …”