How to prevent birth defects- ｜Birth Defects Prevention Day

September 12 marks Birth Defects Prevention Day, emphasizing the importance of safeguarding health from the very start of life. This year’s theme centers on strategies to prevent birth defects, highlighting how critical prevention is compared to treatment.

Birth defects are defined as structural, functional, or metabolic abnormalities that develop in a baby before birth. These conditions may stem from genetic factors, environmental influences, or a mix of both. Many serious congenital diseases can result in death, disabilities, or lifelong challenges, and treatment options often provide only symptomatic relief or are not available at all. Hence, preventing birth defects is not only essential but also far more effective than attempting to treat them.

Let’s explore the three levels of prevention:

**Primary Prevention** takes place before conception. This includes health education, proper nutrition, preconception care, genetic counseling, and carrier screening. By implementing these comprehensive interventions, the incidence of birth defects can be significantly reduced.

**Secondary Prevention** involves actions during pregnancy, such as prenatal screening and diagnosis. These measures help detect severe congenital defects early, ultimately decreasing the number of infants born with these conditions.

**Tertiary Prevention** is focused on the newborn stage. It includes early screening, diagnosis, and prompt treatment, which can help reduce disabilities and enhance the quality of life for affected children. Together, these three levels of prevention create a strong shield against birth defects.

**Preparing for Preconception Checks:**

To mitigate the risk of neural tube defects, like anencephaly and spina bifida, women should ensure they are taking adequate folic acid before becoming pregnant. Genetic carrier screening is another vital step; it identifies couples who may be at risk for recessive genetic disorders, even if they have no apparent symptoms or family history.

Couples with a genetic background or those who have faced adverse pregnancy outcomes should consider genetic evaluations and counseling to prevent repeating previous tragedies. Additionally, engaged couples can improve the quality of their sperm and eggs by treating any underlying health issues, steering clear of smoking and alcohol, minimizing medication use, and reducing exposure to harmful substances. These steps can help lower the risks of miscarriage, preterm birth, and fetal abnormalities.

**Emphasizing Prenatal Care:**

During pregnancy, early screenings such as the nuchal translucency test, Down syndrome screening, and non-invasive DNA testing are crucial. If healthcare providers suggest amniocentesis for further assessment, expectant mothers should remember that despite a small risk of miscarriage (approximately 0.1%), it remains the only method to confirm fetal chromosome normalcy. A comprehensive fetal anatomy scan is also essential for every expectant mother and should never be overlooked.

Completing these checks significantly enhances the chances of bringing a healthy baby into the world.

**Enhancing Newborn Screening:**

For newborns, doctors are now equipped to screen for serious conditions like congenital heart disease, hearing impairments, phenylketonuria, congenital hypothyroidism, adrenal cortical hyperplasia, and various inherited metabolic disorders at an early stage. These interventions can prevent infant mortality and minimize communication and cognitive issues. Additionally, conditions such as Severe Combined Immunodeficiency (SCID) are now also included in newborn screening protocols.

The insights shared by Dr. Jian Nan, Deputy Chief Physician, and Dr. Xiong Yu, Chief Physician at the Fetal Medicine Center, Fudan University Affiliated Obstetrics and Gynecology Hospital, emphasize the importance of preventive measures. This content was reviewed by Huang Hefeng, an esteemed academician at the Chinese Academy of Sciences and Dean of Zhejiang University School of Medicine, with planning by Tan Jia and Wang Ning. For further information, visit the Healthy China WeChat account.