A genetic disease is a sickness that a person is born with. Birth defects can be inherited or caused by environmental factors. They don’t always have a significant impact on a child’s health and development; sometimes the effects are minimal. However, a child born with a congenital condition may experience health or mobility challenges for the remainder of their lives.
It is normal to be concerned about congenital illnesses if you are pregnant or trying to conceive. This is especially true if the illness runs in the family. You can be checked for some illnesses while pregnant, but not all. You can also take steps to reduce the chances that your kid will be born with one.
Which are the most frequent birth defects?
Listed below are some common birth defects:
• cleft lip and palate—often discovered during frequent prenatal screenings.
• congenital cardiac disease, which can include a hole in the heart, valve problems, or blood vessel issues. These are usually discovered via frequent scans throughout pregnancy or after the baby is born.
• cerebral palsy—usually discovered in the first few years of life
There is a DNA test that can detect fragile X syndrome during pregnancy or in the first few years of life.
• Down syndrome (Trisomy 21)—this is typically discovered by DNA testing during pregnancy.
• Spina bifida is commonly discovered during regular prenatal scans.
• Cystic fibrosis—usually discovered during neonatal screenings.
How often do birth issues occur?
Birth complications occur frequently. Every four and a half minutes, a newborn in the United States is born with a birth defect. One in every 33 newborns born, or 120,000 children per year, fits this description.
Is it appropriate to mention “birth defect”?
In medicine, a “birth defect” is defined as changes in a person’s bodily structure that occur while they are still in the womb. You can refer to something as a birth defect if you choose. Being nasty to a person with a congenital defect is never acceptable. Their physical appearance does not determine who they are. It is best not to be cruel or nasty while discussing birth defects or people with them. If you do not feel comfortable using the term “birth defect,” you might also:
• Abnormalities present from birth.
• Conditions exist at birth.
• Physical problems.
Signs and Reasons Genetic Diseases
What complications can result from a congenital defect?
There are mild to severe indications of birth defects. They can harm your bones, lungs, and virtually any other organ of your body.
During the woman’s pregnancy, a doctor or nurse will do screening tests to look for indicators of birth complications. During pregnancy, several factors can indicate a birth defect:
Protein levels in your blood that are greater or lower than expected.
• Ultrasound images reveal extra fluid around a baby’s neck.
• Problems in the structure of a fetus’s organs, such as the heart, as detected during a foetal echocardiography.
Some birth defects do not become apparent until or shortly after birth. Some of the most frequent indications and symptoms of birth issues in babies and children include:
• Their heart is beating strangely.
• Having difficulty breathing on their own.
• Not responding when loud noises or their name are called.
• They are not looking at you or anything else in front of them.
• Having difficulty eating.
• They have distinctive features on their head, face, eyes, ears, or mouth.
• Their growth is not commensurate with their age.
• Feeling irritated.
Even though this is not an exhaustive list of birth defect symptoms and indications, you should consult your child’s doctor if something does not appear to be right or if you detect any of the above symptoms or indicators.
What causes birth defects?
Birth defects can be caused by a variety of factors, including
• Genetic changes.
• A negative outcome of taking medication.
• Exposure to medications or toxins.
• Problems throughout pregnancy.
These causes occur when the foetus is developing. Many things are beyond your control.
After fertilization, a baby grows in your uterus and passes through two stages of development. During the first 10 weeks of development, the egg is at the embryo stage. During this phase, most of the fetus’s major bodily systems and organs begin to develop. The remainder of the pregnancy is in the second stage, often known as the foetal stage. During this stage, the foetus’ organs and body are developing.
Birth abnormalities are most likely to occur while the infant is still an embryo and its cells are developing. For example, between two and ten weeks following conception, a baby is most vulnerable to chemical or substance exposure.
Scientists have identified the cause of approximately 30% of birth issues. This means that around 70% still do not have a clear rationale. Approximately 50-70% of birth defects occur by chance, and no one understands why.
Birth difficulties and genetics
Genetic reasons account for around 20% of birth defects.
Each human body cell has 46 chromosomes, which contain thousands of genes. Each gene has a coding that governs the growth and function of a certain bodily part. When a person has too many or too few chromosomes, their cells receive confused instructions on how to grow and function.
When the chromosomes alter,
• Having too many chromosomes: Being born with Down syndrome exemplifies having too many chromosomes. When people with Down syndrome divide their cells, they gain an additional copy of chromosome 21.
Some people are born without all of their chromosomes, such as those with Turner syndrome, which causes a partial or complete loss of the X chromosome.
• Chromosome deletions: A genetic alteration can alter the number of chromosomes in your DNA. For example, individuals with Prader-Willi syndrome lack genetic material on chromosome 15.
• Chromosomes that have been moved: Chromosomes might relocate within your DNA to a different numerical position from their original. This is known as “crossing over.” Smith-Magenis syndrome, a kind of translocation, affects only a small number of people.
Genes can cause some birth defects. To put it another way, you could contract a condition that runs in your family. Other illnesses occur on a sporadic basis and have no family history.
Birth defects and medications
Some medications can have an effect on newborns’ growth and development, resulting in birth defects. Some common drugs that can cause birth difficulties are:
• Isotretinoin (Accutane®, Roaccutane®).
• Anti-epileptic drugs (valproic acid).
2. Lithium.
2. Warfarin.
If you are pregnant or want to become pregnant, talk to your doctor about the medications and supplements you are taking, as well as the adverse effects of the medications they prescribe. They will tell you whether it is safe to continue using particular medications. Do not stop taking the medication unless your doctor advises you to.
Exposure to medicines or chemicals and birth complications
Chemicals and substances in a person’s environment can influence how a baby grows and develops, potentially resulting in birth abnormalities. Some common medicines or chemicals that might cause birth abnormalities include:
• Take a breath.
• addictive chemicals, such as prescription and over-the-counter medications, caffeine, and marijuana.
• Weed killers or pesticides.
• Unclean air.
In some regions of the world, people who use toxic chemicals and pesticides have more babies with birth defects. Agent Orange, a chemical used to harm plants during the Vietnam War (1962-1971), is one example of this. This pesticide is no longer on the market since it is hazardous and lethal.
Problems with pregnancy and baby issues
Some pregnancy-related issues can cause a birth anomaly. Usually, the expectant parents have no control over these issues, which can be quite stressful.
The following are examples of pregnancy issues that can lead to baby problems:
The amniotic sac that protects the infant during pregnancy ruptures, placing pressure on the uterus. This can result in foetal band syndrome and, in certain cases, limb loss.
• Insufficient amniotic fluid: The baby in your uterus is not surrounded by adequate fluid. This may cause harm to the foetus’ lungs (pulmonary hypoplasia).
• Infection: Toxoplasmosis and CMV are two infections that can affect a developing foetus.
To avoid these complications, speak with your doctor about how to be healthy throughout pregnancy for both you and the baby.
What are the factors that can cause birth defects?
Certain factors or health conditions can increase your chances of having a child with a birth defect. Some examples include but are not limited to:
It is diabetes.
• Being overweight.
• The mother’s age at giving delivery (more than 35 years old).
• You have a hereditary condition that runs in your family.
• Issues with drugs or alcohol.
• Being on certain medications.
Your doctor or nurse can help you deal with any underlying issues. They can also provide you with tests to determine the likelihood that your child will inherit a disease.
How to Diagnose and Test
What types of tests are available for birth abnormalities during pregnancy?
What tests can detect birth defects?
You can get ultrasounds and blood tests while pregnant to screen for birth defects and hereditary diseases. If a screening test reveals an abnormality, your doctor will recommend a diagnostic test. Tests performed in the first three months of pregnancy screen for abnormalities with the baby’s heart and chromosomal illnesses such as Down syndrome.
Here are several screening tests:
• Blood test: Blood tests can detect protein levels or free baby DNA in the mother’s blood after giving delivery. If the findings are abnormal, it may indicate that the infant has a genetic disease.
• An ultrasound determines whether there is excess fluid behind the baby’s neck. It could be a symptom of a heart or DNA problem.
Screenings in the second trimester check for issues with the shape of the foetus’ body. Here are the tests:
• Serum screen: Blood testing in the second trimester can detect genetic abnormalities and/or spina bifida.
• Anomaly scan: This form of ultrasound examines the child’s size and detects birth defects.
If a screening test indicates that something is wrong, a doctor or nurse may recommend additional tests. People who are more likely to experience complications throughout their pregnancy can also receive diagnostic tests. Here are the tests:
This ultrasound focusses on the fetus’s heart. Not all heart issues may be detected before birth with diagnostic tests.
• Foetal MRI: This scan examines the foetal brain or nervous system.
• Chorionic villus sampling: During this test, your doctor will remove a little portion of the placenta. They will look for chromosomal or DNA issues.
• Amniocentesis: Your doctor will remove a little amount of amniotic fluid. Cells will be tested for chromosomal abnormalities and DNA alterations. A cytomegalovirus (CMV) test can also be performed during an amniocentesis.
Some birth complications may be discovered after your baby is born by a doctor or nurse. Some conditions, such as cleft lip, can be diagnosed right away by a doctor. Some diseases are not diagnosed until a person reaches adulthood or childhood. Keep an eye on your child’s health and report any symptoms to their doctor.
How to Manage and Treat
Is it feasible to prevent birth defects?
If you have a family history of specific birth abnormalities, you can receive DNA tests before becoming pregnant. You might want to speak with a genetic counsellor about your family history and the likelihood that your baby will be born with a problem. You could also use this time to schedule genetic tests.
If you are undergoing in vitro fertilisation (IVF), you can test your baby when it is 2 to 4 days old, before it is implanted in your uterus.
Here are some other things you may do to help prevent genetic disorders:
• Consuming adequate folic acid and other vitamins and minerals in a nutritious diet throughout the reproductive years
• taking folic acid pills before marriage and for the first three months of pregnancy.
• Avoiding drugs, alcohol, and smoking since these can harm the foetus.
• Managing diabetes, including pregnant diabetes
• Avoiding poisons such as pesticides and lead in the environment.
• receiving vaccinations, particularly for measles
How do you treat birth defects?
The treatment is depending on what is wrong. Its main purpose is often to alleviate symptoms or correct any structural abnormalities, and it may include:
• Surgery.
• Medicines.
• Exercise and fitness.
• Using devices such as glasses, hearing aids, a wheelchair, or a brace.
• Assisting students with their academic studies (special education).
Safety first.
Is it feasible to prevent birth defects?
Most types of birth defects cannot be prevented. To ensure the safety of your pregnancy, you can:
• Schedule regular appointments with your doctor.
If you are trying to conceive or are sexually active, do not use birth control pills. Instead, take a prenatal vitamin containing 400 microgrammes of folic acid.
• If you suspect you may be pregnant, contact your doctor straight away.
• Don’t drink any alcohol.
• Inform your doctor about all of the medications and supplements you are taking.
Do not take any medicines unless your doctor has specifically instructed you to.
The outlook, or prognosis
What can I expect if my child is born with a problem?
Dealing with birth defects is not simple and can be extremely traumatic. It might also be frustrating and frightening since there is no cure or way to prevent most birth abnormalities.
If your child is given a diagnosis, you may have many questions. Medical specialists, genetic experts, and health care workers can help you understand more about the birth condition and how to assist your kid.
Keep in mind that birth anomalies are common. The majority of the reasons are beyond your control; they simply happen. There is no way to prevent your child from developing every type of birth defect. However, you can still love, support, and care for your child. These are some of the most beneficial things you can do for them.
If your kid has a birth complication, it is critical that you schedule regular checkups with their doctor. You and their doctor should discuss potential causes, tests, treatment options, and referrals to experts and support organizations. If you need assistance or have questions, contact your child’s care team.
Getting Along With
When should I see the doctor or nurse?
If your child exhibits any indicators of birth defects, you should consult a doctor. Keep a watch on your child’s developmental milestones, such as when they take their first steps, to ensure that they are developing the abilities required for their age. Contact your child’s teacher if they miss any milestones.
When should I go to the emergency room?
If your child exhibits the following symptoms, take them to the emergency hospital.
• Having difficulty breathing.
• Skin that appears bluish, pale, or grey.
• The whites of their eyes or skin become yellow.
• A disproportionate beating.
• Having difficulty waking up.
• Not being nourished.
What should I ask my doctor about?
What went wrong with my child during birth?
• Do I need C-section surgery?
• What types of care can benefit my child?
• Will the medication make me feel bad in any way?
• Should I be on the alert for any signs?
• Can you recommend any family support groups?
More Frequently Asked Questions
Is having dimples considered a congenital defect?
Having dimples is not a flaw. Dimples appear as depressions on your cheeks. When you grin, your dimples are clearly visible. Dimples are inherited and may run in families. However, they do not indicate inadequate growth.
A message from the Reprospot Clinic
A parent-to-be wants nothing more than to learn that their unborn kid or baby is sick. Although you cannot prevent all delivery complications, there are steps you may take before and during your pregnancy to reduce your chances. Don’t forget that you have aid. Your doctors and nurses understand how difficult it is to raise a kid with a birth defect. They will discuss medications, screening tests, and other options to help your child realize their full potential.
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