Towards acceptable practices for antenatal and neonatal screening for disease or disease risk

Population screening has become an important tool in antenatal and neonatal preventive medicine. In the developed countries several routine screening procedures have been offered to the pregnant woman and her newborn infant for many years. This includes first of all certain clinical examinations and routine laboratory testings of blood and urine. In pregnancy, screening for syphilis and ABOand Rhesus blood types has been carried out for many years, whereas screening for chromosome abnormalities first began in the late sixties when amniotic fluid analyses were offered to women with increased risk for Down's syndrome. During the last 10 to 15 years several new screening procedures have been offered to pregnant women, mainly ultrasound scanning and serum screening for severe fetal malformations and Down's syndrome, but also recently carrier screening for different diseases such as cystic fibrosis and screening for certain infections. In newborn infants several screening procedures are carried out at or shortly after birth, and successful screening programs for congenital hypothyroidism (CH) and phenylketonuria (PKU) have been routine in many countries for more than 20 years. A number of other diseases can be screened for, using the filterpaper blood spots taken 5-10 days after birth, and several of them will be added to existing newborn screening programs. The purpose of this contribution is to outline the progress and problems in preand neonatal screening, exemplified by different Danish projects. Bsnt Nergaard-Pedersen