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.
Some of the more prevalent congenital diseases include:
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 (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.
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.
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.
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.
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:
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.
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.
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.
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.
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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.
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.
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.
In the fight against congenital diseases, various public health intervention measures have been implemented in many areas. This means ensuring that:
What can you do to contribute to your unborn baby’s health? Consider doing the following things:
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.
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