[Rapid prenatal diagnosis of familial amyloidotic polyneuropathy using DNA amplification]

We have used in vitro DNA amplification by the polymerase chain reaction for prenatal diagnosis of familial amyloidotic polyneuropathy (FAP) in a German family. Fetus DNA was prepared from chorionic villus sampling and specific prealbumin DNA sequence that may carry FAP type I mutation was enzymatically amplified. The mutant prealbumin gene could be distinguished by direct DNA analysis with Nsi I using amplified DNA. This method is sufficiently sensitive and rapid that prenatal diagnosis of FAP can be done on the same day when fetal DNA is available.