APPLIED MOLECULAR-GENETIC TECHNIQUES FOR PRENATAL-DIAGNOSIS

Molecular laboratory techniques are increasingly important in the eval uation of fetuses at risk for a single gene disorder or chromosomal ab normality and for the detection of genetic or other conditions that ca n lead to an adverse fetal or maternal outcome, The localization and i dentification of novel disease genes allows for mutation analysis or l inkage studies on fetuses at risk for these disorders. New assays or t echniques for mutation detection in single gene disorders such as ampl ification refractory mutation system polymerase chain reaction, fluore scent polymerase chain reaction, heteroduplex analysis and the protein truncation test are now applied in prenatal diagnosis, Recent advance s in molecular cytogenetics, such as comparative genomic hybridization , the primed in-situ labeling technique, the development of new telome ric probes and spectral karyotyping, are being evaluated for their rol e in the prenatal diagnosis of chromosomal abnormalities. These method s may greatly improve the accuracy and applicability of preimplantatio n genetic diagnosis or diagnosis on fetal cells isolated from maternal blood. (C) 1998 Rapid Science Ltd.