A compelling case for preventing birth defects, illnesses

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A compelling case for preventing birth defects, illnesses

The government that aspires to become a welfare state needs to understand the importance of prenatal diagnosis. It should assist prenatal diagnosis and train specialists in birth defects to prevent congenital disorders. About 10 percent of the population is estimated to have disabilities, and 5 percent are handicapped at birth. Congenital heart defects, facial disfiguration, autism, mental disorder, cerebral palsy and learning disabilities are often found at birth. As the number of expectant mothers over the age 34 is increasing, Down Syndrome, a chromosomal anomaly, sex chromosome abnormality and infertility are also growing.

The existing blood test and the ultrasound test can only diagnose 60 percent of birth defects, and because of the high rate of misdiagnosis, 70,000 of the 500,000 pregnant women get invasive tests such as amniocentesis, chorionic villus sampling and umbilical cord blood sampling. A needle is inserted through the wall of the uterus, so about 5 percent of mothers and babies suffer from side effects of birth defects, miscarriage, infection and pregnancy loss. The high rate of invasive tests increases the rates of premature birth, birth defects and infant illnesses.

In more than 50 countries, including Korea, an advanced technology of fetal genome screening was introduced, and the unnecessary amniocentesis can be reduced by 98 percent. Between 10 and 37 weeks, the genetic map of the fetus can be analyzed from the blood of the mother. When this safe, prompt and accurate screening becomes widely available for expectant mothers, it will be an epoch-making turning point in prevention of congenital disabilities.

The government has the duty and responsibility to offer the fetal genome screening to pregnant women across the nation. It is also cost-effective. It takes a drastic Copernican revolution beyond the debate of customized welfare and universal welfare, and expansion of the fetal genome screening of analyzing 46 chromosomes is one such change. We expected a progressive welfare policy of drastically introducing a whole new prenatal screening.

*Kim Chang-kyu Honorary board member of the International Society of the Fetus
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