22 feb. 2011 DEBATE ON GENETIC DIAGNOSTIC METHODS IN PRENATAL DIAGNOSIS
Feride Iffet SAHIN, Yunus Kasim TERZI, Zerrin YILMAZ CELIK
Baskent University Faculty of Medicine Department of Medical Genetics, Ankara, Turkey
The fetus at risk for a genetic condition is the application area of prenatal genetic diagnosis methods. Although conventional chromosome analysis is still regarded as the gold standard in prenatal diagnosis, molecular cytogenetic methods like FISH and DNA based methods such as QF- PCR and aCGH are widely used in routine practice in specific cases. Noninvasive prenatal testing of cell free fetal DNA in maternal blood is another test regarded to be the most effective test in fetal aneuploidy screening. Every method has its own advantages and disadvantages according to the specific condition it is utilized. The methods will be discussed on the basis of clinical cases and guidelines.
Keywords : Prenatal diagnosis, cytogenetics, FISH, QF-PCR, aCGH, NIPD