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Hum. Reprod. Advance Access published online on March 10, 2005
Human Reproduction, doi:10.1093/humrep/deh781
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Human Reproduction © European Society of Human Reproduction and Embryology 2005; all rights reserved
Received November 22, 2004
Revised January 7, 2005
Accepted January 12, 2005

Article

Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages

Dan Diego-Alvarez 1*, Maria Garcia-Hoyos 1, Maria Jose Trujillo 1, Cristina Gonzalez-Gonzalez 1, Marta Rodriguez de Alba 1, Carmen Ayuso 1, Carmen Ramos-Corrales 1, and Isabel Lorda-Sanchez 1

1 Fundacion Jimenez Diaz - Human Genetics, Avda. Reyes Catolicos, 2 Madrid 28040 Spain

* To whom correspondence should be addressed.
Dan Diego-Alvarez, E-mail: ddiego{at}fjd.es


  Abstract

BACKGROUND: Aneuploidies involve ~80% of chromosomal anomalies found in spontaneous miscarriages. Since cytogenetic studies show high rates of failure, we have incorporated the quantitative fluorescent polymerase chain reaction (QF-PCR) technique to the study of numerical chromosome anomalies in miscarriages. METHODS: Multiplex and simple QF-PCR assays have been performed on 160 miscarriage and 34 parental DNA samples analysing specific short tandem repeat (STR) markers for chromosomes 2, 7, 13, 15, 16, 18, 21, 22 and X. Cases successfully karyotyped were used as controls in our study. RESULTS: While maternal contamination could be detected in such cases, a molecular result was obtained for 94% of miscarriages without a cytogenetic one. Thirty-six per cent of them were diagnosed with numerical chromosome anomalies. Parental origin of the extra chromosome and the error stage of meiosis could be also determined. CONCLUSIONS: QF-PCR represents a useful and reliable tool to diagnose aneuploidies in spontaneous miscarriages. It provides information about parental and meiotic origin of anomaly, allowing an appropriate genetic counselling.

Keywords: abortion; aneuploidy; QF-PCR; spontaneous miscarriage; STR marker.
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D. Diego-Alvarez, C. Ramos-Corrales, M. Garcia-Hoyos, A. Bustamante-Aragones, D. Cantalapiedra, J. Diaz-Recasens, E. Vallespin-Garcia, C. Ayuso, and I. Lorda-Sanchez
Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach
Hum. Reprod., April 1, 2006; 21(4): 958 - 966.
[Abstract] [Full Text] [PDF]


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