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.
|Publication status||Published - 1999|
de Graaf, I. M., van Bezouw, S. M. C. A., Jakobs, M. E., Leschot, N. J., Zondervan, H. A., Bilardo, C. M., & Hoovers, J. M. N. (1999). First-trimester non-invasive prenatal diagnosis of triploidy. Prenatal Diagnosis, 19(2), 175-177. https://doi.org/10.1002/(SICI)1097-0223(199902)19:2<175::AID-PD524>3.0.CO;2-4