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First‐trimester non‐invasive prenatal diagnosis of triploidy
Author(s) -
de Graaf Irene M.,
van Bezouw Saskia M. C. A.,
Jakobs Marja E.,
Leschot Nico J.,
Zondervan Hans A.,
Bilardo Caterina M.,
Hoovers Jan M. N.
Publication year - 1999
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199902)19:2<175::aid-pd524>3.0.co;2-4
Subject(s) - gestation , fetus , prenatal diagnosis , first trimester , pregnancy , second trimester , obstetrics , medicine , pregnancy associated plasma protein a , karyotype , aneuploidy , gynecology , biology , chromosome , genetics , gene
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 (5mm 95th centile) was seen at 13+2 weeks of gestation. Copyright © 1999 John Wiley & Sons, Ltd.