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What are Birth Defects?

Brooke Phillips, CWCMS
Editor | Shield HealthCare
01/06/22  12:35 PM PST
what are birth defects

The word “defect” is a difficult word, especially when you are a parent. Medically speaking, birth defects are structural changes present at birth that can affect almost any part of the body. They can affect how the body works, looks, or both. Advancements in medicine and surgery have led to better survival rates, and thankfully more children born with birth defects grow up to lead full lives. Birth defects are common, affecting one in every 33 babies (about 3% of babies) born in the United States each year. This means a baby is born with a birth defect in the U.S. every 4 1/2 minutes.

Birth defects can occur in any family regardless of race, health history, economic status or level of education. There are many different kinds of birth defects, including congenital heart defects, defects of the brain and spine, chromosomal abnormalities and more. Some have only a minor and brief effect on a baby’s health, while others have life-threatening or life-long effects. These effects can often be improved by early detection, intervention and care. Medical equipment such as feeding tubes – which can be used temporarily or long term – are a good example of how technology has grown to improve the lives of those navigating birth defects.

Types of Birth Defects

Below is a list of the most common birth defects in the United States:

Brain/Spine Defects

Specific Defects                                                      Frequency
Anencephaly 1 in every 4,647 births
Encephalocele 1 in every 10,502 births
Spina bifida 1 in every 2,758 births

Eye Defects

Specific Defects                                                 Frequency
Anopthalmia/micropthalmia 1 in every 5,243 births

Heart Defects

Specific Defects                                                 Frequency
Atrioventricular septal defect 1 in every 1,859 births
Coarctation of the aorta 1 in every 1,795 births
Common truncus (truncus arteriosus) 1 in every 15,696 births
Double outlet right ventricle 1 in every 5,997 births
Ebstein anomaly 1 in every 13,047 births
Hypoplastic left heart syndrome 1 in every 3,841 births
Interrupted aortic arch 1 in every 16,066 births
Pulmonary valve atresia and stenosis 1 in every 1,052 births
Pulmonary valve atresia 1 in every 7,104 births
Single ventricle 1 in every 13,351 births
Tetralogy of Fallot 1 in every 2,171 births
Total anomalous pulmonary venous connection 1 in every 7,809 births
Transposition of the great arteries 1 in every 2,695 births
Dextro‐transposition of great arteries 1 in every 3,413 births
Tricuspid valve atresia and stenosis 1 in every 5,938 births
Tricuspid valve atresia 1 in every 9,751 births

Mouth/Face Defects

Specific Defects                                                 Frequency
Cleft lip with cleft palate 1 in every 1,563 births
Cleft lip without cleft palate 1 in every 2,807 births
Cleft palate 1 in every 1,687 births

Stomach/Intestine Defects

Specific Defects                                                   Frequency
Esophageal atresia/tracheoesophageal fistula 1 in every 4,144 births
Rectal and large intestinal atresia/stenosis 1 in every 2,242 births

Muscle/Bone Defects

Specific Defects                                                 Frequency
Clubfoot 1 in every 593 births
Diaphragmatic hernia 1 in every 3,591 births
Gastroschisis 1 in every 1,953 births
Limb defects 1 in every 1,943 births
Omphalocele 1 in every 4,175 births

Chromosome (Gene) Abnormalities

Specific Defects                                                 Frequency
Trisomy 13 (Patau syndrome) 1 in every 7,409 births
Trisomy 18 (Edwards syndrome) 1 in every 3,315 births
Trisomy 21 (Down syndrome) 1 in every 707 births

* Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle‐Colarusso T, Cho SJ, Aggarwal D, Kirby RS. National population‐based estimates for major birth defects, 2010–2014. Birth Defects Research. 2019; 111(18): 1420-1435. [Read article]

The Role of Nutrition and Prenatal Care

Many – but not all – birth defects occur in the first 3 months of pregnancy, when major structural growth is taking place. Medical professionals are aware of what causes some defects, such as fetal alcohol syndrome. But the causes of most birth defects are still unknown.

Here is what we do know: although not all birth defects and genetic disorders can be prevented, the risk for many types of birth defects can be reduced through healthy lifestyle choices and medical care before and during pregnancy. About half of all pregnancies are unplanned, contributing to a late start into prenatal care. This causes many parents to miss the crucial early weeks of embryonic development. Parental health prior to pregnancy can affect the risk of having a child with a birth defect. Food intake, lifestyle choices, factors in the environment, health conditions and medications before and during pregnancy all can play a role in reducing the risk.

Studies have demonstrated several important steps people can take to lower their risk of having a baby with a birth defect. Those who are pregnant or may become pregnant are advised to:

  • Take 400 micrograms of folic acid daily.
  • Get a medical checkup before pregnancy, and talk to a health care provider about any medications you are taking: both prescription and over-the-counter.
  • Avoid travel while pregnant to areas with high risk for exposure to certain viruses, such as the Zika virus.
  • Eat a healthy diet and work to maintain a healthy weight.
  • Avoid tobacco smoke, including vaping and second-hand smoke.
  • Stop drinking alcohol prior to pregnancy and during pregnancy. If pregnant, stop drinking as soon as possible.
  • Avoid illegal and recreational drugs (including marijuana/medicinal marijuana, which is legalized in some states and sometimes marketed as beneficial for pregnancy nausea).
  • Avoid toxic substances at work or at home.
  • If possible, keep chronic illnesses such as diabetes, seizure disorders or phenylketonuria (PKU) well managed and under control .
  • Know how to prevent infections during pregnancy.
  • Be proactive in identifying and treating fever when ill or after getting a vaccine. Treat fevers higher than 101oF with Tylenol® (or store brand acetaminophen), and avoid hot tubs, saunas, or other environments that might cause overheating.

However, even with optimal self-care, many birth defects and chromosomal abnormalities are unavoidable. If you have a child or children with birth defects, visit our GROW community for robust resources, tools and support.

For more information, you can also visit the Centers for Disease Control and Prevention (CDC) National Center on Birth Defects and Developmental DisabilitiesMarch of Dimes (MOD) FoundationNational Institutes of Health (NIH) and the National Birth Defects Prevention Network.

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