title: Segmental Duplication QF-PCR: A Simple and Alternative Method of Rapid Aneuploidy Testing for Developing Country Like India.
abstract: BACKGROUND
  Aneuploidy screening is becoming an integral part of routine prenatal screening in developing countries like India, and the need for more cheaper and rapid aneuploidy testing methods are required to relive the anxiety and financial burden among the high-risk couples. Segmental duplication quantitative fluorescent polymerase chain reaction (SD-QF-PCR) emerged as an alternative aneuploidy diagnostic method.
  
  
  METHODS
  This study was conducted to optimize and access the utility of SD-QF-PCR in routine prenatal diagnosis to complement existing short tandem repeats (STR) based QF-PCR. About 50 control samples, 50 Down's syndrome samples, and one each trisomy 18 and Klinefelter samples were studied to optimize the assay. Later, 100 amniotic fluid samples were also studied.
  
  
  CONCLUSIONS
  The assay was able to successfully identify normal and aneuploidy samples with 100% sensitivity and specificity. The results of amniotic fluid analysis by SD-QF-PCR were in agreement with results of STR-QF-PCR. Observed results qualify SD-QF-PCR as a preliminary aneuploidy diagnosis method.
authors: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
authors: Srinivasan
authors: S
authors: Muthuswamy
authors: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
authors: Sarita
authors: S
authors: Agarwal
mesh_terms: D000653:Amniotic Fluid / Q000166:cytology; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D003906:Developing Countries; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007194:India; D007713:Klinefelter Syndrome / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods*; D011296:Prenatal Diagnosis / Q000191:economics / Q000379:methods*; D056916:Segmental Duplications, Genomic / Q000235:genetics*; D012680:Sensitivity and Specificity; D012730:Sex Chromosomes / Q000235:genetics; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics; D000073842:Trisomy 18 Syndrome
keywords: Down's syndrome; aneuploidy; quantitative fluorescent PCR; rapid aneuploidy testing; segmental duplication; trisomy