Prenatal diagnosis of premature centromere division-related mosaic variegated aneuploidy

To present the prenatal diagnosis of premature centromere division (PCD)-related mosaic variegated aneuploidy (MVA) and a review of the literature.

A 33-year-old primigravida woman underwent amniocentesis at 22 weeks' gestation because of intrauterine growth restriction (IUGR), microcephaly, and oligohydramnios. Amniocentesis revealed PCD-related MVA. Repeat amniocentesis two weeks later consistently showed PCD-related MVA. The pregnancy was terminated. The proband postnatally manifested dysmorphic facial features of microcephaly, hypertelorism, low-set ears, a broad nasal bridge, a thin upper lip, and overriding toes. At autopsy, the internal organs were unremarkable. Cytogenetic analyses of the cord blood, liver, lungs, skin, and placenta displayed PCD-related MVA in all tissues studied. The PCD frequencies for the cells in the amniotic fluid (first culture), amniotic fluid (second culture), cord blood, liver, lungs, skin, and placenta were 53.3%, 56.5%, 47.4%, 38.7%, 33.9%, 33.3%, and 40.8% respectively.

The present case provides evidence that, in cases of pregnancy with PCD-related MVA, the cytogenetic result of the amniocytes correlates well with those of the fetal cells and chorionic villi cells. We suggest that prenatal sonographic detection of a complex of IUGR, microcephaly and oligohydramnios with or without central nervous system abnormalities should include a differential diagnosis of PCD-related MVA.