(CGH) A molecular DNA diagnostic technique whereby a set of chromosomes (a genome) is compared with a standard set using different colored dyes (typically red and green), so that any areas that do not exactly match will appear green or red instead of brown; a sensitive technique that can be applied to preimplantation genetic diagnosis as well as to chorionic villous sampling, or CVS, and to amniocentesis for prenatal diagnosis, yielding results much faster than is possible with a formal karyotype and more comprehensively than is possible with fluorescent in situ hybridisation.

Sampling the fluid from the amniotic cavity after about 14 or 15 weeks of pregnancy. Cells from the fetus can be set up in culture for a karyotype, or for special diagnoses can be examined more quickly by fluorescent in situ hybridisation (FISH), comparative genomic hybridisation (CGH) or by polymerase chain reaction (PCR). Other substances in the amniotic fluid (such as alpha fetoprotein, or AFP) can be measured to indicate whether the fetus is normal or not.

Known as "FISH". A form of DNA testing for genetic diagnosis in which a special region of a chromosome is stained with a dye that emits colored light when exposed to ultraviolet light. For example, a marker for chromosome 21 will normally show two spots of light, whereas three spots of light would indicate trisomy 21 (Down syndrome). Useful because the technique is accurate with just one cell, making diagnosis possible in an IVF embryo before transfer (see preimplantation genetic diagnosis), and speeding up prenatal diagnosis while awaiting a full karyotype. Being replaced in some labs by comparative genomic hybridisation.