研究目的
Rapid detection of common aneuploidies (trisomies of chromosomes 13, 18, or 21 and gonosomal abnormalities) in prenatal diagnostics using fluorescence in situ hybridization (FISH).
研究成果
The rapid prenatal FISH aneuploidy test is a powerful tool for clinicians, offering results within 24 h. It should be offered with appropriate genetic counseling, discussing its benefits and limitations. The method is robust and can also be used on preimplantation embryos and prenatal chorionic villi samples.
研究不足
Potential pitfalls include centromeric polymorphisms, small supernumerary marker chromosomes, dicentric chromosomes not detectable in interphase nuclei, or maternal contamination. Other genetic disorders not tested by the probe set are not excluded.
1：Experimental Design and Method Selection:
Utilizes FISH with centromeric or locus-specific probes for rapid aneuploidy screening in uncultured amniocytes.
2：Sample Selection and Data Sources:
Amniotic fluid cells from prenatal diagnostics.
3：List of Experimental Equipment and Materials:
Aneu Vysion kit (ABBOTT/Vysis), trypsin/EDTA, PBS with fetal calf serum, KCl, Carnoy’s fixative, SSC, pepsin, formamide, DAPI, Vectashield H-1000 Antifade Mounting Medium.
4：Experimental Procedures and Operational Workflow:
Preparation of amniotic fluid cells, slide pretreatment, denaturation, hybridization, posthybridization washing, and evaluation under a fluorescence microscope.
5：Data Analysis Methods:
Semi-statistic evaluation of interphase nuclei counting signals for each probe.
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