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

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Abstract

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
Volume19
Issue number2
DOIs
Publication statusPublished - 1999
Externally publishedYes

Cite this

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