Rapid Prenatal Aneuploidy Screening by Fluorescence In Situ Hybridization (FISH)
The most common aneuploidies observed in prenatal diagnostics in the second trimester are trisomies of the chromosomes 13, 18 or 21 and gonosomal abnormalities. Rapid detection of these aneuploidies after amniocentesis is possible by fluorescence in situ hybridization (FISH) utilizing centromeric or locus-specific probes. FISH aneuploidy screening results in uncultured amniocytes are available within 24 h or less. Operators should be aware that there are possible pitfalls in connection with the commercially available probe sets and in result interpretation in general and thus proceed with appropriate caution. Here, we explain how rapid prenatal aneuploidy screening is performed using the Food and Drug Administration (FDA-) approved Aneu Vysion kit (ABBOTT/Vysis) and a review is given of drawbacks and opportunities of the method.
Key wordsPrenatal diagnosis Molecular cytogenetics Fluorescence in situ hybridization (FISH) Interphase FISH Pitfalls
- 2.Held KR (2003) QS Zytogenetik Bericht 2002/2003. Med Genet 15:420–421Google Scholar
- 5.Caine A, Maltby AE, Parkin CA et al (2005) Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment. Lancet 366(9480):123–128. https://doi.org/10.1016/S0140-6736(05)66790-6CrossRefPubMedGoogle Scholar
- 17.Toutain J, Epiney M, Begorre M et al (2010) First-trimester prenatal diagnosis performed on pregnant women with fetal ultrasound abnormalities: the reliability of interphase fluorescence in situ hybridization (FISH) on mesenchymal core for the main aneuploidies. Eur J Obstet Gynecol Reprod Biol 149(2):143–146. https://doi.org/10.1016/j.ejogrb.2009.12.015CrossRefPubMedGoogle Scholar