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First-trimester non-invasive prenatal diagnosis of triploidy

✍ Scribed by 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

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 167 KB
Volume: 19
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199902)19:2<175::aid-pd524>3.0.co;2-4

No coin nor oath required. For personal study only.

✦ Synopsis

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 beta-chain of chorionic gonadotrophin (free beta-hCG) were both shown to be decreased in the same blood sample. An enlarged nuchal translucency (5 mm > or =95th centile) was seen at 13+2 weeks of gestation.

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