[Use of molecular biological methods in invasive prenatal genetic diagnosis].
In the past, prenatal cytogenetic analysis was limited by answering times of one to three weeks and lack of exact diagnosis of some structural abnormalities. The number of prenatal analyses of monogenic diseases was small due to lack of knowledge of the gene and the mutation in question. The introduction of molecular biological techniques allows prenatal diagnosis of the most frequent trisomies within one to two days and exact diagnosis of almost all structural abnormalities. The Human Genome Project now allows prenatal diagnosis for most monogenic diseases, and the rapid improvement of the DNA-chip technology will increase the number of prenatal diagnoses even further.
Lundsteen
Claes
C
H:S Rigshospitalet, Juliane Marie Centret, Klinisk Genetisk Afdeling. lundsteen@rh.dk
Schwartz
Marianne
M
D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D020223:Chromosome Painting; D020732:Cytogenetic Analysis / Q000379:methods*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D015335:Molecular Probes; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal
D015335:Molecular Probes