Prenatal diagnosis has been a vital part of reproductive risk screening. This method of genetic screening aims to identify fetuses with certain genotypes known to be associated with a genetic disease or predisposition to a genetic disease. The goals of prenatal diagnosis include providing a range of informed choice to couples at risk of having a child with an abnormality; providing reassurance and reducing anxiety among high-risk groups; allowing couples to begin a pregnancy with a knowledge that the presence of absence of the disorder in the fetus can be confirmed by testing; allowing couples the option of appropriate management for the birth of a child with a genetic disorder; and enabling prenatal treatment of an affected fetus. Prenatal diagnosis includes invasive and non-invasive approaches. The non-invasive forms of genetic screening consist of maternal blood biochemical screening and ultrasound scans; invasive techniques, on the other hand, include chorionic villi sampling, amniocentesis and fetal blood and tissue sampling. Newer reproductive technologies such as preimplantation diagnosis and determination of fetal cells in maternal blood have added to the array of genetic screening methods used in prenatal diagnosis. It should be recognized, though, that prenatal diagnosis remains controversial, particularly when the diagnosis leads to a decision to abort the pregnancy. Health professionals as well as families must continue to be attentive of advances in both genetic research to make the most educated, well informed and ethically well-defined decisions possible. In the Philippines, prenatal diagnosis is practiced in a very limited way. Prenatal ultrasound is the only most widely used and accepted non-invasive procedure for prenatal diagnosis in the country today.

In: Acta Medica Philippina, 2006 vol. 40 (2) pages: 54-57