title: Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.
abstract: Ultrasonography is a non-invasive method for prenatal detection of diastrophic dysplasia (DTD) in the second trimester of pregnancy. As there is a need for genetic counselling as early as possible we wished to develop a method based on molecular analysis. Five fetuses in families with a previous history of DTD were studied by typing them and their relevant family members for DNA markers closely linked to the DTD gene. The DNA analyses predicted that three of the fetuses were unaffected and two affected. These results were concordant with those obtained by ultrasonography, and the phenotype of the fetus was correctly predicted in all cases. DNA analysis provides a reliable means of prenatal diagnosis in the first trimester of pregnancy.
authors: Department of Medical Genetics, University of Helsinki, Finland.
authors: J
authors: J
authors: Hästbacka
authors: R
authors: R
authors: Salonen
authors: P
authors: P
authors: Laurila
authors: A
authors: A
authors: de la Chapelle
authors: I
authors: I
authors: Kaitila
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics*; D015342:DNA Probes; D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA