By: Monica Leff, M.D., obstetrician & gynecologist, Chair, Women’s Division, MemorialCare Miller Children’s & Women’s Hospital
Each year, January marks National Birth Defects Awareness Month, a time dedicated to increasing awareness, supporting affected families, and sharing information about prevention and care. At Miller Children’s & Women’s Hospital, we are committed to helping parents navigate this journey by providing expert care and resources to promote the healthiest possible outcomes for children and families.
Understanding Birth Defects
Birth defects are conditions that are present at birth. These anomalies can be caused by genetic abnormalities and/or environmental exposures, although the underlying etiology is often unknown. These can range from structural issues, such as cleft lip or congenital heart defects, to functional problems, like hearing loss or chromosomal abnormalities. According to the Centers for Disease Control and Prevention, approximately 1 in 33 babies in the U.S. is born with a birth defect each year, making early intervention and specialized care critical for these children.
Birth defects often develop during the first trimester, a period when a baby’s organs are forming. While some conditions can be detected through prenatal screenings, others may not be identified until after birth. Some birth defects, like clubfoot, are easy to see. Others, like hearing loss, are found using special tests.
Common birth defects include:
- Congenital heart defects: The most common type of birth defect, ranging from mild to severe, requiring specialized care or surgery.
- Cleft lip and cleft palate: These affect the baby’s lip and mouth and often require surgical repair and speech therapy.
- Neural tube defects: Conditions like spina bifida, affecting the brain and spinal cord, can cause lifelong challenges.
- Clubfoot: A foot abnormality treated with early intervention such as casting or braces.
- Hearing loss: This can affect language development but is manageable with treatments like hearing aids or therapy.
Causes and Risk Factors of Birth Defects
While the exact causes of many birth defects remain unknown, several factors may increase the risk:
- Smoking, alcohol, or drug use during pregnancy
- Certain infections or chronic health conditions, such as uncontrolled diabetes
- Environmental exposures, such as harmful chemicals
- Medical history
- Advanced maternal age
- Genetic predispositions
Prevention and Prenatal Care
Though not all birth defects can be prevented, steps can be taken to reduce risks:
- Schedule a preconception checkup to address any health concerns before pregnancy.
- Ensure vaccinations, such as the rubella vaccine, are up to date.
- Take 400 mcg of folic acid daily beginning at least one month prior to conception to help prevent neural tube defects.
- Discuss any medications with your healthcare provider to ensure safety during pregnancy.
- Avoid smoking, alcohol, and drugs.
- Maintain a healthy weight and manage chronic conditions like diabetes.
- Avoid overheating, such as in saunas or hot tubs.
- Begin prenatal care as soon as you know you are pregnant and attend all checkups.
- Speak with your provider about genetic counseling if there is a family history of birth defects.
Prenatal Testing for Birth Defects
During pregnancy, healthcare providers use various tests to check for birth defects. These include screening tests and diagnostic tests.
- Screening tests identify whether a baby may be at higher risk for certain health conditions. These often include blood tests and ultrasounds.
- If a screening test suggests a higher risk, diagnostic tests can confirm the presence of a birth defect. One common diagnostic test is amniocentesis, performed between 15 and 20 weeks of pregnancy. This test involves taking a small sample of amniotic fluid to analyze for genetic conditions or birth defects.
In certain cases, additional tests may be recommended. For instance, using detailed ultrasound imaging, a fetal echocardiogram can evaluate the baby’s heart for structural abnormalities, such as congenital heart defects.
Identifying Birth Defects After Birth
Some birth defects, like cleft lip, clubfoot, or microcephaly, are visible at birth and diagnosed through a physical exam. Others require specific screening tests shortly after birth to detect hidden conditions.
Newborn screening is performed on all babies in the U.S. before they leave the hospital, typically within the first 1–2 days of life. This process may include:
- Blood screening: A small blood sample is taken from the baby and tested for genetic and metabolic conditions.
- Hearing screening: Tiny earphones are used to check the baby’s response to sound.
- Heart screening: A pulse oximetry test measures oxygen levels in the baby’s blood to help detect congenital heart defects.
When Screening Results Are Abnormal
Most newborn screening results are normal. If a test result is abnormal, further diagnostic testing is often needed to confirm if the baby has a health condition. Early detection through newborn screening is critical, as it can allow for timely treatment and prevent more serious complications.
Treating Birth Defects
The severity of birth defects can range from mild to life-threatening. Depending on the condition, treatment may involve:
- Medications or surgery
- Assistive devices, such as hearing aids
- Specialized therapies, like speech or physical therapy
In many cases, a team of healthcare providers will work together to manage the baby’s condition, ensuring comprehensive care. Some children with birth defects may require ongoing or long-term treatment to support their health and development.
Early intervention and a personalized care plan can significantly improve outcomes, helping babies with birth defects lead healthier lives.
Supporting Families Through Specialized Care
Families of children with birth defects often encounter unique challenges, both emotionally and practically. At Miller Children’s & Women’s Hospital, we prioritize holistic care that extends beyond medical treatment. This includes offering resources and services designed to support families throughout their journey, such as:
- Advanced Prenatal Diagnostics: Our team provides comprehensive prenatal testing to help families prepare for their baby’s specific needs before birth.
- Neonatal Intensive Care Unit (NICU): With a Level IV NICU, we offer expert care for babies born with complex conditions or birth defects requiring specialized treatment.
- Year-Round Educational Programs: Programs like infant CPR classes equip parents with critical skills to ensure their baby’s safety and well-being.
- Support Groups and Counseling: Emotional support services, including counseling and peer support groups, help families navigate the challenges of raising a child with a birth defect.
- Therapy and Rehabilitation Services: Speech, occupational, and physical therapy are available to help children achieve developmental milestones and improve their quality of life.
Our approach emphasizes empowering families with the tools, knowledge, and confidence to advocate for their child’s health.
Join Us in Raising Awareness
National Birth Defects Awareness Month is an opportunity to celebrate the resilience of children and families while promoting education and prevention. By spreading awareness and fostering a supportive community, we can help every child live their healthiest life.
