title: [Active screening for genetic pathology in newborns. II. Genetic counseling and prenatal diagnosis in high risk families].
abstract: Active screening for genetic pathology over a period of 12 years (1990-2001) involved examination of 29629 newborns at the Clinic of Obstetrics and Gynaecology. Congenital anomalies were detected in 1244 cases (live-, stillbirths and terminated pregnancies) which gives an average incidence rate of 42.0 per 1000 among the studied population. Chromosomal abnormalities were diagnosed in 70 cases (5.6%), single gene conditions--in 164 cases (13.2%), multifactorially determined conditions--in 449 cases (36.1%). The total genetic contribution of all recognized cases with genetic conditions was 54.9% (683 cases). Genetic counseling was provided to 560 out of 1244 (45%) couples who given births to affected children. During that period prenatal diagnosis was performed on 110 (44%) pregnancies and most of them (90%) ended successfully (healthy child was born). Our strategy for identifying CD by active screening enabled us to provide more accurate genetic counselling and prenatal diagnosis for genetic diseases. Screening of newborn population is likely to be an effective and necessary service.
authors.forename: K
authors.initials: K
authors.lastname: Kovacheva
authors.forename: L
authors.initials: L
authors.lastname: Angelova
authors.forename: M
authors.initials: M
authors.lastname: Simeonova
mesh_terms: D002031:Bulgaria / Q000453:epidemiology; D025063:Chromosome Disorders / Q000175:diagnosis / Q000453:epidemiology*; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000453:epidemiology*; D005260:Female; D005817:Genetic Counseling / Q000706:statistics & numerical data*; D005820:Genetic Testing; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis; D012189:Retrospective Studies