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Congenital abnormalities

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Congenital abnormalities or congenital defects, are diseases and disorders that are present at birth which can be caused by genes, environmental factors, chemicals such as thalidomide, lack of proper nutrition such as deficiency of folic acid leading to neural tube defects, or infections such as Zika virus.

Depiction of a child with Congenital Heart Disease
Depiction of a child with Congenital Heart Disease

Incidence

Birth defects are common, costly, and critical conditions that affect 1 in every 33 babies born in the United States each year, according to the Centers for Disease Control and Prevention (CDC)

What are birth defects?

Birth defects are structural changes present at birth that can affect almost any part or parts of the body (e.g., heart, brain, foot). They may affect how the body looks, works, or both. Birth defects can vary from mild to severe. The well-being of each child affected with a birth defect depends mostly on which organ or body part is involved and how much it is affected. Depending on the severity of the defect and what body part is affected, the expected lifespan of a person with a birth defect may or may not be affected.

Congenital hallux varus
Congenital hallux varus

Identifying Birth Defects

A birth defect can be found before birth, at birth, or any time after birth. Most birth defects are found within the first year of life. Some birth defects (such as cleft lip) are easy to see, but others (such as heart defects or hearing loss) are found using special tests, such as echocardiograms (an ultrasound picture of the heart), x-rays or hearing tests.

Causes

Birth defects can occur during any stage of pregnancy. Most birth defects occur in the first 3 months of pregnancy, when the organs of the baby are forming. This is a very important stage of development. However, some birth defects occur later in pregnancy. During the last six months of pregnancy, the tissues and organs continue to grow and develop.

(Noninvoluting congenital hemangioma) (NICH)
(Noninvoluting congenital hemangioma) (NICH)

For some birth defects, like fetal alcohol syndrome, we know the cause. But for most birth defects, we don’t know what causes them. For most birth defects, we think they are caused by a complex mix of factors. These factors include our genes (information inherited from our parents), our behaviors, and things in the environment. But, we don’t fully understand how these factors might work together to cause birth defects.

Risk factors

While we still have more work to do, we have learned a lot about birth defects through past research. For example, some things might increase the chances of having a baby with a birth defect, such as:

Smoking, drinking alcohol, or taking certain “street” drugs during pregnancy.

  • Having certain medical conditions, such as being obese or having uncontrolled diabetes before and during pregnancy.
  • Taking certain medications, such as isotretinoin (a drug used to treat severe acne).
  • Having someone in your family with a birth defect. To learn more about your risk of having a baby with a birth defect, you can talk with a clinical geneticist or a genetic counselor.
  • Being an older mother, typically over the age of 34 years.
  • Having one or more of these risks doesn’t mean you’ll have a pregnancy affected by a birth defect. Also, women can have a baby born with a birth defect even when they don’t have any of these risks. It is important to talk to your doctor about what you can do to lower your risk.
Giant congenital melanocytic nevus
Giant congenital melanocytic nevus

Prevention

Not all birth defects can be prevented. But, there are things that a woman can do before and during pregnancy to increase her chance of having a healthy baby:

  • Be sure to see your healthcare provider regularly and start prenatal care as soon as you think you might be pregnant.
  • Get 400 micrograms (mcg) of folic acid every day, starting at least one month before getting pregnant.
  • Don’t drink alcohol or smoke.
  • Talk to a healthcare provider about any medications you are taking or thinking about taking. This includes prescription and over-the-counter medications and dietary or herbal supplements. Don’t stop or start taking any type of medication without first talking with a doctor.
  • If possible, be sure any medical conditions are under control, before becoming pregnant. Some conditions that increase the risk for birth defects include diabetes and obesity.
Indonesian child suffering from a congenital heart abnormality
Indonesian child suffering from a congenital heart abnormality

List of congenital abnormalities

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A

Agenesis.jpg
Arachnoid cyst.jpg

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B

Trisomie 21 (Down's syndrome)
Trisomie 21 (Down's syndrome)

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C

Cyclopia.jpg

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D

Duane syndrome.jpg

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F

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G

Fibrodysplasia ossificans progressiva.jpg

H

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I-K

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L-M

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N-O

Niemann–Pick disease.jpg

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Persistent cloaca.jpg

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Sirenomelia.jpg

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T-U

Papillary fibroelastoma.jpg

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V-Z

Latest research - Congenital abnormalities

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