Çocuk Sağlığı ve Hastalıkları Dergisi
2013 , Vol 56 , Num 1
Prevention of congenital anomalies
Hacettepe Üniversitesi Tıp Fakültesi, 1Pediatri Doçenti, 2Pediatri Profesörü
Major congenital anomalies affect 2-3% of neonates. Anomalies may be
detected in another 2-3% during the first five years of life, thereby affecting
4-6% of all children. Congenital anomalies may be genetic or environmental
in origin. The underlying etiology is undetermined in 50-60% of all major
anomalies, multifactorial in 20-25%, genetic in 7-8%, chromosomal in 6-7%,
and teratogenic in 6%. Primary prevention is of major importance, since
treatment for most anomalies is either impossible or difficult. Major preventive
goals for our population are: (1) decreasing the frequency of consanguineous
marriages, which increase the incidence of rare autosomal recessive disorders,
(2) decreasing the frequency of births among >35-year-old women, which
increase chromosomal disorders, mainly Down syndrome, and (3) improving
the socioeconomic and environmental factors that affect the frequency of
multifactorial diseases. Antenatal maternal factors, including dietary folate
intake, smoking, caffeine and alcohol consumption, rubella infection, and
uncontrolled diabetes, may also affect the frequency of major anomalies.
Anahtar Kelimeler :
konjenital anomaliler, önleme, akraba evliliği, ileri anne yaşı,
multifaktöriyel hastalıklar, çevresel etkenler.