First-trimester non-invasive prenatal diagnosis of triploidy

Irene M. de Graaf, Saskia M. C. A. van Bezouw, Marja E. Jakobs, Nico J. Leschot, Hans A. Zondervan, Caterina M. Bilardo, Jan M. N. Hoovers

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Scopus)


We report a case of fetal triploidy in which fetal nucleated red blood cells were isolated from the maternal peripheral circulation at 12 weeks' gestation. FISH analysis with X and Y specific probes revealed three hybridization signals for the X chromosomes in 14 cells. The karyotype as established after CVS was shown to be 69,XXX. Two other non-invasive first-trimester screening methods were also evaluated. The serum markers pregnancy-associated plasma protein A (PAPP-A) and the free β-chain of chorionic gonadotrophin (free β-hCG) were both shown to be decreased in the same blood sample. An enlarged nuchal translucency (5 mm ≥ 95th centile) was seen at 13 + 2 weeks of gestation.
Original languageEnglish
Pages (from-to)175-177
JournalPrenatal diagnosis
Issue number2
Publication statusPublished - 1999

Cite this