Evolution of prenatal diagnostic techniques from phenotypic diagnosis to gene arrays: its likely impact on prenatal diagnosis of hemophilia.
Prenatal diagnostic techniques in hemophilia have evolved through the early sex-determination techniques of offering a nonspecific diagnosis in case of a male fetus through the various mutation screening techniques to the more recent gene array techniques. Each of these techniques has specific advantages and disadvantages. The sampling techniques have evolved simultaneously to suit the requirements of each technique and also the different gestation periods. The DNA-based testing methods provide a range of aberrations detected with different levels of genomic resolution. The more recent gene array analysis is poised to have substantial impact on prenatal diagnosis of hemophilia not only in studying the highly heterogeneous mutations but may also be useful in studying the effect of various ameliorating or epistatic genetic mutations/ polymorphisms simultaneously, providing a wide range of options to the prenatal diagnosis experts, the genetic counselors, and the couples opting for prenatal diagnosis.
Ghosh
Kanjaksha
K
Department of Haemostasis, Institute of Immunohaematology, KEM Hospital Campus, Parel, Mumbai 400 012, India. kanjakshaghosh@hotmail.com
Shetty
Shrimati
S
Tulsiani
Mukesh
M
D001777:Blood Coagulation / Q000235:genetics*; D001780:Blood Coagulation Tests; D004843:Epistasis, Genetic; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006467:Hemophilia A / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D011110:Polymorphism, Genetic; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*