title: Detection of chromosome abnormalities by quantitative fluorescent PCR in ectopic pregnancies.
abstract: 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.
authors.affiliation: Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. M.Goddijn@amc.uva.nl
authors.forename: Mariette
authors.initials: M
authors.lastname: Goddijn
authors.forename: Marja
authors.initials: M
authors.lastname: van Stralen
authors.forename: Heleen
authors.initials: H
authors.lastname: Schuring-Blom
authors.forename: Bert
authors.initials: B
authors.lastname: Redeker
authors.forename: Liesbeth
authors.initials: L
authors.lastname: van Leeuwen
authors.forename: Sjoerd
authors.initials: S
authors.lastname: Repping
authors.forename: Nico
authors.initials: N
authors.lastname: Leschot
authors.forename: Fulco
authors.initials: F
authors.lastname: van der Veen
mesh_terms: 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