What are birth defects and congenital anomalies?

About 3-4% of children are born with some type of birth defect. A birth defect is a health problem or physical anomaly. It can be very light or heavy. Some birth defects are life-threatening, in which case the baby may live only a few months. Congenital malformations are also called "congenital anomalies" or "congenital anomalies".

The most common birth defects are:

What causes birth defects?

Most birth defects are caused by genetic or environmental factors, or a combination of both. However, in most cases the cause is unknown.

Genetic or hereditary causes include:

Chromosomal defects: Caused by too few or too many chromosomes or problems in chromosome structure such as Down syndrome and an extra copy of chromosome 21 and sex chromosome abnormalities
Single gene defects: a mutation in one gene causes a defect
Dominant inheritance: when a parent (who may or may not have the disease) passes on one defective gene, such as achondroplasia and Marfan syndrome
Recessive inheritance: when both parents, who do not suffer from this disease, pass on to the child a gene for a disease such as cystic fibrosis and gangliosidosis GM2 (Tay-Sachs disease)

Environmental causes can be drugs, alcohol, or an illness in the mother, which can increase the risk of having a baby with a birth defect. An agent that can cause a birth defect is called a teratogen.

Multifactorial birth defects are caused by a combination of genes and environmental influences. In other words, a person can inherit a gene that increases sensitivity to an environmental stimulus. Examples include cleft lip or palate, certain heart defects, and neural tube defects.

How to reduce the chance of having a child with a birth defect?

There are many steps a woman can take to reduce her risk of having a baby with a birth defect, including staying healthy before deciding to get pregnant. This is because a woman is often unaware that she is pregnant in the first few weeks, which can be critical to the baby's health and development.

Other steps you can take while pregnant include:

Avoid exposure to alcohol and drugs during pregnancy: be sure to tell your doctor about all medications and herbal supplements you are taking, as they can all have an adverse effect on the development of the fetus.
Avoid exposure to harmful substances: these include lead, pesticides and radiation, which can harm the developing fetus.
Reduce the risk of infection. Pregnant women should avoid eating undercooked meats and raw eggs, and avoid contact with and contact with cat feces and cat litter, which may contain the parasite Toxoplasma gondii, which causes toxoplasmosis. Other sources of infection include insects that have come into contact with cat feces.
Quit smoking: babies born to mothers who smoke tend to have lower birth weights; in addition, exposure to second-hand smoke can harm the fetus.
Eat a healthy diet: A balanced diet before and during pregnancy is not only beneficial for the overall health of the mother, but also essential to ensure that the developing fetus receives the nutrients it needs for growth and development.
Maintain a healthy weight: Overweight women may have health problems such as high blood pressure and diabetes, while underweight women may have low birth weight babies.
Medical treatment of pre-existing conditions: Take control of any current or pre-existing conditions such as diabetes or high blood pressure.
Folic acid: Taking 400 micrograms of folic acid each day may help reduce the risk of neural tube defects or birth defects of the brain and spinal cord. The vitamin is also found in some green leafy vegetables, nuts, beans, citrus fruits, and fortified breakfast cereals.
Take your daily vitamin: Start taking your doctor's prescribed prenatal vitamins daily to ensure your body gets all the nutrients and vitamins it needs to feed a healthy baby.
Dealing with domestic violence: Women who have experienced violence before pregnancy may be at increased risk of violence during pregnancy. Your doctor can help you find community, social, and legal resources to help you deal with domestic violence.

How are birth defects diagnosed?

Some defects can be diagnosed before birth by ultrasound, amniocentesis, or villous biopsy. Most women have blood tests to determine their risk of having a baby with a certain birth defect, such as Down's syndrome and spina bifida. Although it does not usually cure a child's birth defect, prenatal diagnosis can prepare parents emotionally and help them prepare for the birth of a child with a birth defect.

In other cases, a birth defect is diagnosed after birth through a physical examination or blood test that looks for several conditions in newborns.

Pre-conception exam

A preconception checkup, also known as a preconception visit, is one of the best ways to ensure a healthy pregnancy. The goal is to assess your general health and identify risk factors that may complicate pregnancy. Pre-conception screening may include any of the following:

Family history

The doctor will review the medical history of both of your biological parents to see if any of the family members have had any health problems, such as high blood pressure, diabetes, or mental retardation.

Genetic test

The doctor will evaluate any genetic disorders that may be passed on to your child; some genetic conditions can be detected with a blood test before pregnancy.

Personal medical history: to determine if you have any conditions that may require special care during pregnancy (anemia, epilepsy, diabetes, high blood pressure); collect information about previous transactions; and get information about past pregnancies such as complications, losses and length of pregnancy.

Vaccination status

To assess immunity against diseases such as rubella (rubella), which can cause miscarriage or birth defects, the vaccine can be given at least three months before conception to provide immunity.

Infection screening

Infection screening determines if a woman has a sexually transmitted infection, a urinary tract infection, or another type of infection that could harm her or the fetus.

What are the treatment options for birth defects?

Most birth defects cannot be cured. Treatment is aimed at relieving symptoms. However, in some cases, there are ways to treat specific birth defects.

Genetic therapy

Gene therapy replaces a missing or defective gene. Severe combined immunodeficiencies are a group of very rare diseases that are treated with gene therapy.

Enzyme replacement therapy

Enzymes are proteins encoded by genes. Thus, when a gene mutates and does not produce a gene product, the enzyme is missing or defective. One way to treat this type of genetic defect is to replace an enzyme that is not produced by the gene. Gaucher disease is an example of a condition for which enzyme replacement therapy has been developed.

Prenatal treatment

Some birth defects can be diagnosed and treated before birth. Prenatal surgery, for example, can treat children with urinary tract blockages and rare lung tumors.