title: [Genetic counseling and ultrasonographic prenatal diagnosis of skeletal dysplasias in monogenic and chromosomal syndromes].
abstract: The paper reports sonographic prenatal diagnosis of monogenic and chromosomal syndromes (congenital malformations) which are associated with skeletal abnormalities: autosomal recessive syndromes (shortribs--polydactyly, type II; dyssegmental dwarfism, type II; Pen-Shokeir disease type I), autosomal dominant syndromes (Larsen's syndrome, achondroplasia, Schmidt's metaphyseal dysplasia of segregating partial chromosome of 7 long-arm trisomy). All cases were detected in the second trimester; diagnosis of chromosomal diseases employed the amniocentesis. In aborted pregnancies, diagnoses were confirmed at autopsy. Pathognomonic sonographic markers were described for every syndrome; numerous conditions were differentiated from similar syndromes. Genetic counseling identified recurrence risks and offspring prognosis. Potentials of sonographic diagnosis of systemic skeletal dysplasia and a need for a syndrome-oriented approach to prenatal diagnosis are discussed.
authors.forename: N P
authors.initials: NP
authors.lastname: Veropotvelian
authors.forename: P N
authors.initials: PN
authors.lastname: Veropotvelian
authors.forename: N M
authors.initials: NM
authors.lastname: Tomashevskaia
authors.forename: L V
authors.initials: LV
authors.lastname: Klipova
authors.forename: M K
authors.initials: MK
authors.lastname: Nikitenko
authors.forename: I E
authors.initials: IE
authors.lastname: Khan'
authors.forename: L A
authors.initials: LA
authors.lastname: Kodunov
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000209:etiology / Q000235:genetics; D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000209:etiology / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
vernacular_title: Mediko-geneticheskoe konsul'tirovanie i ul'trazvukovaia prenatal'naia diagnostika skeletnykh displaziĭ pri monogennykh i khromosomnykh sindromakh.