[Postnatal screening for congenital anomalies--the possibility of detecting families at high genetic risk].
The aim of the study was to present out experience with the registration of congenital anomalies (CA) and to assess the effect of the preventive genetic-consultative activities in affected families. In the period 1990-1996, 19174 infants born or hospitalized at the Clinic of Obstetrics, Pleven were screened for CA, showing frequency of 26.1%. Structural analysis of the CA is presented. 226 out of 500 (45%) families with and affected child were consulted by a geneticist. Data an prenatal diagnosis (PD) offered to 142 families at high risk and their reproductive decision are submitted. The low rate of families made use of invasive PD is pointed out; the real benefits of ultrasonography as a screening test for detection of fetal anomalies has been recommended.
Kovacheva
K
K
Angelova
L
L
Simeonova
M
M
Tsankova
G
G
Markova
S
S
Popov
I
I
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D002031:Bulgaria / Q000453:epidemiology; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D015997:Neonatal Screening; D012307:Risk Factors