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Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR).
J Histochem Cytochem 2005; 53(3):285-8JH

Abstract

Molecular cytogenetic aneuploidy testing for pregnant women at increased risk of chromosome abnormality leads to rapid reassurance for those with normal results and earlier decisions on pregnancy management in the case of abnormality. We tested 9080 prenatal samples using a one-tube QF-PCR test for trisomies 13, 18, and 21; the abnormality rate was 5.9%. There were no misdiagnoses for non-mosaic trisomy. A sex chromosome multiplex was developed that detects structural sex chromosome abnormalities as well as aneuploidies. The sex chromosome test was targeted at pregnancies (272) with specific abnormalities suggestive of Turner syndrome; 13.2% showed 45,X, confirmed by follow-up analysis.

Authors+Show Affiliations

Cytogenetics Department, 5th Floor, Guy's Tower, St Thomas Street, London SE1 9RT, UK. caroline.ogilvie@genetics.kcl.ac.ukNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

15750003

Citation

Ogilvie, Caroline Mackie, et al. "Rapid Prenatal Diagnosis of Aneuploidy Using Quantitative fluorescence-PCR (QF-PCR)." The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society, vol. 53, no. 3, 2005, pp. 285-8.
Ogilvie CM, Donaghue C, Fox SP, et al. Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR). J Histochem Cytochem. 2005;53(3):285-8.
Ogilvie, C. M., Donaghue, C., Fox, S. P., Docherty, Z., & Mann, K. (2005). Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR). The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society, 53(3), pp. 285-8.
Ogilvie CM, et al. Rapid Prenatal Diagnosis of Aneuploidy Using Quantitative fluorescence-PCR (QF-PCR). J Histochem Cytochem. 2005;53(3):285-8. PubMed PMID: 15750003.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR). AU - Ogilvie,Caroline Mackie, AU - Donaghue,Celia, AU - Fox,Susan P, AU - Docherty,Zoe, AU - Mann,Kathy, PY - 2005/3/8/pubmed PY - 2005/4/23/medline PY - 2005/3/8/entrez SP - 285 EP - 8 JF - The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society JO - J. Histochem. Cytochem. VL - 53 IS - 3 N2 - Molecular cytogenetic aneuploidy testing for pregnant women at increased risk of chromosome abnormality leads to rapid reassurance for those with normal results and earlier decisions on pregnancy management in the case of abnormality. We tested 9080 prenatal samples using a one-tube QF-PCR test for trisomies 13, 18, and 21; the abnormality rate was 5.9%. There were no misdiagnoses for non-mosaic trisomy. A sex chromosome multiplex was developed that detects structural sex chromosome abnormalities as well as aneuploidies. The sex chromosome test was targeted at pregnancies (272) with specific abnormalities suggestive of Turner syndrome; 13.2% showed 45,X, confirmed by follow-up analysis. SN - 0022-1554 UR - https://www.unboundmedicine.com/medline/citation/15750003/Rapid_prenatal_diagnosis_of_aneuploidy_using_quantitative_fluorescence_PCR__QF_PCR__ L2 - http://journals.sagepub.com/doi/full/10.1369/jhc.4B6409.2005?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -