First-trimester non-invasive prenatal diagnosis of triploidy.
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.
de Graaf
I M
IM
Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands. I.M.deGraaf@AMC.UvA.NL
van Bezouw
S M
SM
Jakobs
M E
ME
Leschot
N J
NJ
Zondervan
H A
HA
Bilardo
C M
CM
Hoovers
J M
JM
D000328:Adult; D015415:Biomarkers / Q000097:blood*; D005260:Female; D005315:Fetal Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011123:Polyploidy; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis
D015415:Biomarkers