title: Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages.
abstract: BACKGROUND
  Aneuploidies involve approximately 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.
authors.affiliation: Fundacion Jimenez Diaz - Human Genetics, Avda. Reyes Catolicos, Madrid, Spain. ddiego@fjd.es
authors.forename: Dan
authors.initials: D
authors.lastname: Diego-Alvarez
authors.forename: Maria
authors.initials: M
authors.lastname: Garcia-Hoyos
authors.forename: Maria Jose
authors.initials: MJ
authors.lastname: Trujillo
authors.forename: Cristina
authors.initials: C
authors.lastname: Gonzalez-Gonzalez
authors.forename: Marta
authors.initials: M
authors.lastname: Rodriguez de Alba
authors.forename: Carmen
authors.initials: C
authors.lastname: Ayuso
authors.forename: Carmen
authors.initials: C
authors.lastname: Ramos-Corrales
authors.forename: Isabel
authors.initials: I
authors.lastname: Lorda-Sanchez
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D000782:Aneuploidy; D002869:Chromosome Aberrations; D005260:Female; D005453:Fluorescence; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D020080:Tandem Repeat Sequences; D014314:Trisomy
chemical_list: D005819:Genetic Markers