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    Congenital Diseases and Birth Defects: What You Should Know

    Updated 24 April 2020 |
    Published 16 March 2020
    Fact Checked
    Reviewed by Olga Adereyko, MD, Primary Care Physician, General Practitioner, Medical Consultant
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    As an expectant mom, your top priority is ensuring your baby’s health and well-being. Today, Flo talks about various types of congenital diseases, as well as how to prevent and test for them.  

    What is a congenital disease?

    First of all, what does congenital mean? Simply put, congenital means present before, or at, the time of birth. 

    Congenital diseases, also known as birth defects or congenital disorders or malformations, refer to a functional or structural anomaly in your fetus. It’s usually identified prior to or during delivery. In some instances, however, a congenital disease might not be detected until infancy (e.g., hearing problems). 

    Some of the most severe congenital diseases include Down syndrome, as well as defects of the neural tube and heart. Note that congenital diseases may cause lifelong disabilities, significantly impacting children, families, communities, and health care systems.

    Common birth defects

    Some of the more prevalent congenital diseases include:

    • Congenital heart defects

    This term implies that your infant had a structural issue with their heart at birth. Some congenital diseases of the heart are uncomplicated and may not require any medical treatment. Others could be more complex in nature, warranting multiple corrective surgeries over the course of several years. 

    Serious congenital diseases of the heart usually manifest themselves soon after delivery or in the first several months. Minor heart-related birth defects, on the other hand, might not be diagnosed until late childhood if warning signs and symptoms do not present.

    • Neural tube defects 

    Neural tube defects (NTDs) describe a type of congenital disease arising from the improper closure of your baby’s neural tube. Two of the most common varieties are anencephaly (i.e., a brain defect) and spina bifida (i.e., a spinal cord defect).

    The neural tube helps to form your fetus’ brain and spinal cord during the earliest stages of pregnancy. This means that NTDs can develop before you even realize that you’re pregnant.

    As such, the Centers for Disease Control and Prevention (CDC) recommends that all women in their reproductive years take 400 micrograms of folic acid per day. This is in addition to eating a healthy diet rich in folate to prevent NTDs.

    • Down syndrome

    It’s a congenital disease ‒ specifically a genetic disorder ‒ resulting from abnormal cell division after conception. Babies born with Down syndrome possess an extra partial or full copy of chromosome number 21. It produces certain physical characteristics and developmental differences unique to this condition.

    The severity of Down syndrome varies from one individual to the next, and could create lifelong developmental delays and intellectual disabilities. It’s been linked to learning impairment in children and organ abnormalities, such as gastrointestinal and heart issues.

    Common causes of congenital disease

    Currently, about 50 percent of all birth defects have no definitive cause. However, there are several environmental and biological factors which increase your child’s chances of developing a congenital disease.

    • Genetics

    Inherited genes may code for a defect or undergo unexpected changes or mutations. In cases where the parents are related by blood, the likelihood of rare birth defects increases. Furthermore, the infant/childhood mortality rate doubles, as does your baby’s chances of having intellectual disabilities, mental disorders, and other congenital diseases.

    Certain ethnic communities (Finns or Ashkenazi Jews, for example) show a relatively higher rate of rare genetic mutations like hemophilia C or cystic fibrosis.

    • Demographics and socioeconomic status

    The rate of congenital diseases is higher in countries with limited resources, where 94 percent of severe congenital disease cases are reported. This phenomenon can be attributed to:

    1. Poor access to proper nutrition for pregnant women
    2. Greater exposure to alcohol, infections, and other dangers during pregnancy
    3. Lack of availability with regards to prenatal screening and general health care
    • Maternal age

    The age of the expectant mother also influences fetal development inside the uterus. The likelihood of your baby being born with a congenital disease (particularly a chromosomal abnormality like Down syndrome) goes up as you age.

    • Environment

    Exposure to pesticides and other dangerous chemicals, some medications, tobacco, radiation, or alcohol during pregnancy could be to blame. Being in close proximity to smelters, mines, or waste sites also seems to promote congenital diseases. This is especially true when other negative environmental factors or nutritional deficiencies are present.

    • Infections

    Contagious infections such as varicella (chicken pox), rubella, and syphilis play an important role in the prevalence of congenital diseases in low and middle-income nations.

    • Health of the mother

    As mentioned, folate deficiency makes your baby more vulnerable to neural tube defects. Similarly, excessive consumption of vitamin A could have an adverse effect on fetal or embryonic development.

    Testing and diagnosis of congenital diseases

    Prenatal care (and everything leading up to it) includes general reproductive health care, genetic counseling, and preventive screenings. Your doctor may decide to conduct the following tests:

    It’s potentially useful if you think you’re likely to have a specific congenital disease or pass one on to your child.

    • Peri-conception screening

    This usually targets women who are younger or older, or who use tobacco and alcohol. Your doctor can do an ultrasound to rule out Down syndrome and other structural disorders during your first trimester. 

    In your second trimester, an ultrasound is capable of detecting severe fetal anomalies. At this time, they’ll probably run blood tests or draw fetal DNA to predict NTDs and chromosomal abnormalities. Diagnostic tests, including amniocentesis and chorionic villus sampling, will identify infections and other issues in high-risk pregnancies.

    • Neonatal screening 

    Your newborn is going to undergo tests and clinical examinations for congenital diseases of the blood, metabolism, and hormone production. In many countries, doctors routinely check for adrenal gland and thyroid disorders before discharging your baby from the hospital.

    How to prevent congenital diseases

    In the fight against congenital diseases, various public health intervention measures have been implemented in many areas. This means ensuring that:

    • Mothers and even adolescent girls eat a healthy, nutritious diet
    • They receive adequate vitamins and minerals, especially folic acid 
    • Expectant mothers avoid using tobacco, alcohol, and other harmful substances
    • They steer clear of regions with a high incidence of infections often associated with congenital diseases
    • They eliminate their exposure to hazards such as pesticides or heavy metals
    • Pregnant women and children receive vaccinations, particularly for rubella
    • They control diabetes before and during pregnancy
    • They limit use of medications and exposure to radiation 
    • They’re carefully screened for infections like varicella, rubella, and syphilis 

    What can you do to contribute to your unborn baby’s health? Consider doing the following things:

    1. Take 400 micrograms of folic acid per day. You can get it from supplements, fortified foods, a folate-rich diet, or all of the above. Avoid drinking alcohol, smoking tobacco, or using marijuana or other drugs.
    2. Protect yourself from congenital disease-causing infections.
    3. Never allow your body to overheat (e.g., by soaking in hot tubs or letting fevers run rampant) since it fosters the development of neural tube defects.
    4. Make healthy lifestyle choices when it comes to eating, sleeping, and exercising.
    5. Remember to see your doctor regularly for checkups, and discuss which medications and vaccinations are right for you.


    Congenital diseases or birth defects are anomalies that occur when your fetus is still in utero. They include heart and neural tube defects, Down syndrome, and other conditions. 

    An array of environmental, biological, and even socioeconomic factors have been linked to congenital diseases. Contribute to  your health and your child’s health by taking the above steps and consulting your doctor about reducing their chances of developing a congenital disease.

    History of updates

    Current version (24 April 2020)

    Reviewed by Olga Adereyko, MD, Primary Care Physician, General Practitioner, Medical Consultant

    Published (16 March 2020)

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