Detection of chromosome abnormalities by quantitative fluorescent PCR in ectopic pregnancies.
OBJECTIVE
To evaluate the potential value of quantitative fluorescent polymerase chain reaction (QF-PCR) in the detection of chromosome abnormalities in ectopic pregnancies.


METHODS
Seventy chorionic villi samples of ectopic pregnancies were studied by QF-PCR. Primers for chromosomes 16, 21, X and Y in chorionic villi were evaluated. Fluorescence in situ hybridization (FISH) was performed when results of QF-PCR showed aneuploidy, in case of unexplicable QF-PCR peaks, and in 10 cases with normal QF-PCR results.


RESULTS
QF-PCR produced a result for chromosomes X and Y in 66 cases (94%), for chromosome 16 in 62 cases (89%) and for chromosome 21 in 55 cases (79%). Overall, QF-PCR produced a result for the chromosomes tested in 54 ectopic pregnancy cases (77%). Fifty-two of these results were normal disomic (96%) and two were abnormal, one trisomy 16 (2%) and one triploidy (2%). In 16 cases (23%) no definite QF-PCR results could be obtained for all chromosomes, 11 due to amplification failure, and 5 due to unexplicable QF-PCR peaks. In 10 cases with normal QF-PCR results, disomy was confirmed by FISH. The trisomy 16 was also confirmed by FISH. Furthermore, a result was obtained with FISH in 5 of the cases without definite QF-PCR results.


CONCLUSIONS
Although QF-PCR can establish the chromosomal status in ectopic pregnancies for chromosomes 16, 21, X and Y in the majority of cases, the technical failure rate is still considerable and does not improve results when compared to cytogenetic techniques.
Goddijn
Mariette
M
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. M.Goddijn@amc.uva.nl
van Stralen
Marja
M
Schuring-Blom
Heleen
H
Redeker
Bert
B
van Leeuwen
Liesbeth
L
Repping
Sjoerd
S
Leschot
Nico
N
van der Veen
Fulco
F
D000328:Adult; D000782:Aneuploidy; D002824:Chorionic Villi / Q000378:metabolism; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16; D002891:Chromosomes, Human, Pair 21; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011237:Predictive Value of Tests; D011247:Pregnancy; D011271:Pregnancy, Ectopic / Q000175:diagnosis* / Q000235:genetics; D011296:Prenatal Diagnosis; D012307:Risk Factors; D014314:Trisomy / Q000175:diagnosis