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

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 mis...

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Bibliographic Details
Published in:Human reproduction (Oxford) 2005-05, Vol.20 (5), p.1235-1243
Main Authors: Diego-Alvarez, Dan, Garcia-Hoyos, Maria, Trujillo, Maria Jose, Gonzalez-Gonzalez, Cristina, Rodriguez de Alba, Marta, Ayuso, Carmen, Ramos-Corrales, Carmen, Lorda-Sanchez, Isabel
Format: Article
Language:English
Subjects:
abortion
Abortion, Spontaneous - genetics
Aneuploidy
Biological and medical sciences
Chromosome Aberrations
Female
Fluorescence
Genetic Markers
Gynecology. Andrology. Obstetrics
Humans
Karyotyping
Male
Medical sciences
Polymerase Chain Reaction - methods
Pregnancy
QF-PCR
spontaneous miscarriage
STR marker
Tandem Repeat Sequences
Trisomy
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Summary: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.
ISSN:0268-1161
1460-2350
DOI:10.1093/humrep/deh781