Understanding birth defects across the lifespan: Prevention & management

January 31, 2024

Providence Health Education Team

[5 MIN READ]

Birth defects are common, but early screening and diagnosis can improve how these conditions are managed and improve a person’s quality of life throughout their lifespan.
Some birth defects can be prevented by taking folic acid during pregnancy and avoiding certain medications, alcohol, recreational drugs and tobacco products.
Understanding your baby’s medical condition can help you find the resources needed to support their physical, emotional and social development.

Understanding birth defects across the lifespan

Each year nearly 120,000 babies are born with a birth defect in the United States, according to the Centers for Disease Control and Prevention (CDC). Medical experts have a much greater understanding of how to diagnose, prevent and treat many common conditions across an individual’s lifespan. Highly specialized care and support networks for children, parents and caregivers ensure that babies and children have the assistance they need to manage their condition through every phase of their life.

What are birth defects?

The CDC explains that the term “birth defect” does not imply that an individual is “defective.” The term refers to structural changes that develop during pregnancy and can affect any part of someone’s body, how it works, looks or both. While some conditions are identified before a baby is born, others are diagnosed at birth or shortly after.

Types and common examples

Birth defects can range from mild to severe. Some defects that are not visible, such as congenital heart disease or the impaired function of other internal organs, can go undetected for years unless symptoms are present.

Examples of commonly seen birth defects include:

Cleft lip or palate.
Congenital heart disease.
Down syndrome.
Neural tube defects, such as spina bifida.
Microcephaly.
Limb reduction defects.
Clubfoot.
Diaphragmatic hernia.

The importance of early diagnosis

During pregnancy, consistent prenatal care helps your OB monitor the health and growth of your developing fetus, as well as help with birth defects prevention and ensure a healthy pregnancy. Douglas Barber, M.D., fetal medicine specialist at Providence, explains that early screening and identification of birth defects can provide the opportunity for interventions, such as in utero surgery to correct or repair conditions including diaphragmatic hernia or severe spina bifida. Early detection also means that we can help you arrange for care and services shortly after a baby is born, such as with congenital heart defects.

“It’s understandably very difficult for parents to hear their unborn child has a birth defect,” says Dr. Barber. “When we diagnose conditions early, it gives parents time to process the information, decide on the available treatment options and develop a support network.”

Screening and intervention techniques

Pregnant women are offered a range of testing options to monitor their baby’s growth and development before birth. These procedures fall into two categories: routine screenings and diagnostic tests. Routine screenings include ultrasounds, nuchal translucency ultrasound, glucose monitoring and blood work, as well as regular physical exams with their physician during their pregnancy. These screenings help identify whether additional testing is needed to diagnose a health condition or birth defect.

Diagnostic tests used during pregnancy include amniocentesis to gather amniotic fluid in the uterus, and chorionic villus sampling to take a sample of the placenta. These procedures are used to diagnose conditions such as spina bifida and Down syndrome.

Sheena Byerly, MS, CGC, a genetic counselor at Providence, explains that an estimated 3 to 5% of pregnancies are impacted by a birth defect or learning delay after delivery, which is why routine appointments and screenings are relevant for everyone.

Navigating challenges at different life stages

Navigating life with a birth defect can be challenging for a child and their family. Everyone navigates their diagnosis differently. Some conditions can be surgically repaired, such as a cleft lip and palate or certain heart abnormalities. Others can be corrected using prosthetics or devices such as hearing aids. Depending on the condition, children might benefit from specialist care from a neurologist, orthopedic surgeon or occupational therapist.

Childhood and adolescence

A child’s pediatrician can identify conditions or birth defects that were not previously diagnosed and help coordinate care and services. Early intervention and specialist care can help parents and caregivers understand a child’s condition, identify their needs and access resources designed to help them.

“We know that sensory input is a driving factor of brain development,” says Brian Simmerman, M.D., division chief of pediatrics for Providence Medical Group – Inland Northwest Washington. “Helping children and their families get the assistance they need to manage their conditions early is crucial to helping them reach their full potential later in life.”

Adulthood and aging

As children grow older and become more independent, it’s important to determine what independence looks like. Helping young adults learn to manage their medical condition on their own makes it more likely that they can live and function independently in whatever capacity is appropriate for them.

Prevention and risk reduction

Many birth defects cannot be prevented. However, Dr. Barber says that meeting with your obstetrician before you become pregnant to discuss the medications you take, as well as any existing health conditions, is very important.

“There are prescription medications, such as isotretinoin and some seizure medications that are known to cause birth defects,” says Dr. Barber. “Because many women don’t know they are pregnant until around six weeks, it’s worthwhile to have a discussion with your OB about how to manage your medical conditions in a way that is safe for both mother and baby.”

Prenatal care and lifestyle choices

Dr. Barber explains that prenatal care is essential to a successful pregnancy and to monitor a pregnant mother’s health. That’s because some medical conditions in pregnancy, such as diabetes or infection, can cause birth defects or changes in how a baby is growing in utero. In addition, it’s important for pregnant women to get certain vaccines to prevent infections, such as rubella, that can lead to complications with fetal development.

It’s also crucial for pregnant women to avoid drinking alcohol, smoking or using recreational drugs to prevent conditions such as fetal alcohol syndrome. Dr. Barber stresses that there is no safe amount of alcohol or marijuana for a pregnant woman to consume.

And before pregnancy, women who are not using a reliable form of birth control should consider taking a daily prenatal vitamin to ensure they are getting plenty of folic acid, which can help prevent neural tube defects such as spina bifida. Because the condition develops very early in pregnancy, most physicians recommend women begin taking a prenatal vitamin a month before conception.

Support and resources for families

Raising a child with a birth defect can be challenging, which is why it’s so important to coordinate the resources needed to manage their condition. Each child is unique, and each family’s journey is different, so Dr. Simmerman says the specialty care their child receives can vary based on the condition. Your child’s pediatrician can help coordinate the team of providers your child needs and ensure that they get the appropriate care.

Finding community and emotional support

In addition to support from your child’s primary health care provider, the CDC and other national and state organizations offer resources to help meet your medical, financial and emotional needs. Organizations dedicated to many common birth defects include the Children’s Heart Foundation and March of Dimes.

Advances in research and treatment

Advancements in prenatal screening, birth defects research, public health outreach, testing and diagnostic procedures mean that many common birth defects are identified earlier than ever, which helps parents and caregivers learn more about their child’s medical condition and explore available treatment options.

As the field of genetic research evolves, physicians will develop a greater understanding of how genetics impacts birth defects and how it might be possible to prevent, treat and even cure these conditions in the future.

Emerging therapies and hope for the future

Dr. Simmerman says that thanks to early detection and interventions, children with birth defects have more resources, support and advocacy than ever before.

“Genetic counseling can provide parents with information about their risk factors based on age, existing medical conditions and family history. And new diagnostic techniques help us identify many conditions early,” he says. “Knowing ahead of time what to expect is crucial to helping these children live their best lives. And we’re here to help.”

Contributing caregivers

Brian Simmerman, M.D., division chief of general pediatrics at Providence Medical Group.

Douglas Barber, M.D., fetal medicine specialist at Providence.

Sheena Byerly, MS, CGC, genetic counselor at Providence.

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