Managing Childhood Congenital Birth Defects
A Guide for Parents on Symptoms and Treatment

Congenital birth defects are a significant public health concern. According to the World Health Organisation, approximately 240,000 newborns die annually due to birth defects across the globe.

To exacerbate issues, congenital disabilities may also contribute to long-term disability or problems, which take a substantial toll on families and healthcare systems. So, how can families effectively manage and help children with congenital birth defects? Let’s find out, shall we?

What are birth defects?
Birth defects (also referred to as congenital malformation or congenital birth defects) are structural changes, chromosomal or functional abnormalities present at the birth of a newborn baby. Some birth defects are minor and cause no health problems, while others may cause severe medical complications or even death.

What causes birth defects?
The following are several factors that can cause congenital birth defects.

Genetics
Genetic birth defects may occur due to one or both parents carrying one or more unfavourable genes. Chromosomal damage during embryo development can also lead to congenital birth defects.

For example, genetic disorders such as Down syndrome occur when a baby is born with an extra copy of chromosome 21. For the most part, these genetics defects happen at conception and cannot be prevented. However, most children born with Down syndrome can grow up to be healthy adults if they receive proper care and education from their parents or caregivers.

Environmental factors
Environmental factors such as chemical contaminants may cause birth defects without mutating DNA. For instance, lead, mercury poisoning, polychlorinated biphenyls (a family of industrial chemicals), Dilantin (anti-seizure medication), and retinoids (used to treat severe acne), may disrupt normal embryonic and fetal development.

Socioeconomic factors
Low-income communities and resource-constrained homes are more prone to experiencing birth defects. This may be due to a lack of adequate nutritious foods, increased exposure to bacterial or viral infection agents, and poor access to modern healthcare and screening tools.

Demographic factors
Demographic factors such as parental consanguinity (union between people related as second cousins or closer), maternal infections during pregnancy, ionizing radiation, and chemical and air pollution may also cause birth defects.

Pregnancy-associated conditions
Pregnancy-associated conditions like insulin-dependent diabetes, and hypertension during pregnancy are associated with a higher incidence of congenital birth defects in the baby.

Maternal infectious illnesses such as rubella (German measles) and toxoplasmosis (a parasitic disease) have also been linked to birth defects.

Nutritional factors
Nutritional deficiencies may trigger birth defects. For instance, low levels of folic acid in pregnant women have been implicated in the emergence of neural tube defects like anencephaly, spina bifida and encephalocele.

How are birth defects detected?
In practice, some birth defects may be detected before birth, while others detected when the baby is born, or even later after some time has elapsed after birth.

Screening tests help with birth defect detection. For example, if a particular screening test result is "positive," your baby is more likely to have that birth defect. Therefore, your doctor may order a diagnostic test to make sure.

Preconception screening
Preconception screening can identify the risk of specific disorders. Preconception screening involves obtaining family histories and carrier screening.

Preconception screening may also involve high-resolution ultrasound to evaluate in more detail for possible birth defects between weeks 18 and 22 of pregnancy.

Other more in-depth screening options, like blood tests and amniocentesis, are typically offered to women with higher-risk pregnancies due to family history, or advanced maternal age.

Peri-conception screening
Peri-conception screening happens in the period extending from 3 months before (preconception) to 3 months after conception.

During the peri-conception stage, ultrasound can be used to screen for major structural abnormalities like Down syndrome during the first trimester. Furthermore, maternal blood may be screened with diagnostic tests like chorionic villus sampling to predict the risk of chromosomal abnormalities, or neural tube defects.

Newborn screening
Newborn screening doesn’t diagnose particular conditions but detects if a problem may exist to prevent lifelong effects.

Newborn screening involves tests for hearing problems for early correction, and pulse oximetry (pulse rate and blood oxygen levels) testing to detect critical congenital heart defects.

Furthermore, early screening for congenital cataracts may also allow early referral and surgical correction to increase the likelihood of full-sight recovery.

How to avoid birth defects during pregnancy?
Most birth defects cannot be prevented. However, there are ways to lower the risk of birth defects in children. For example, pregnant women can start taking prenatal vitamins and supplements that contain folic acid to prevent spine and brain defects.

Folic acid is a B9 vitamin that helps prevent birth defects. It's available over the counter, so you don't need to go to the doctor for it. The recommended dose of folic acid supplements for women who are planning a pregnancy is 400 milligrams (400mcg) per day. Folic acid can also be found in many types of foods, including wheat germ, liver and fortified cereals like farina (wheat gruel).

Overall, folate deficiency can cause poor health outcomes, including anaemia which leads to weakness and fatigue during pregnancy leading up until delivery. Pregnant women should also avoid consuming alcohol, drugs, and tobacco and use caution when taking specific medications.

Are birth defects common?
Birth defects are not as common as most people think. In actuality, about 1 in every 33 (3%) babies has a serious birth defect annually. Most children (72%) born with major congenital anomalies have no known causes for their birth defect(s).

However, it doesn't mean that these diseases will only affect one person in your family; many families have multiple members affected by these kinds of conditions at once.

Nonetheless, the most common severe birth defects are neural tube defects, heart defects, and Down syndrome. These mostly occur in the first 3 months when the baby’s organs are developing.

Common birth defects - Symptoms and treatment
Some of the most common birth defects, their symptoms and corresponding treatments are:

Heart problems
Congenital heart defects are structural heart problems that are present at birth.

Symptoms of congenital heart defects

• Leg swelling.

• Extreme tiredness, and fatigue.

• Rapid heartbeat.

• Rapid breathing.

• Cyanosis (blue skin or lips)

• Tiredness and rapid breathing when the child is feeding.

Treatment for congenital heart defects
Some congenital heart defects may not need treatment. However, other congenital heart defects in children are more intricate and may require several surgical interventions over a period of several years.

Fetal alcohol syndrome
Fetal alcohol syndrome (FAS) is a permanent condition that stems from a pregnant woman consuming alcohol during pregnancy. This alcohol use interferes with the baby’s development, causing mental and physical defects.

Symptoms of fetal alcohol syndrome
Infants with fetal alcohol syndrome demonstrate

• Abnormal facial features, for example, a thin upper lip, a smooth ridge between the nose and upper lip, and small eyes.

• Sleep and sucking difficulties.

• Small head size.

• Low body weight.

• Deformities of joints, limbs and fingers.

• Short height.

• Vision or hearing problems.

Treatment for fetal alcohol syndrome
Fetal alcohol syndrome is a life-long condition that cannot be cured. However, this condition can be prevented by avoiding alcohol consumption during pregnancy.

Orofacial cleft
Also known as cleft lip, orofacial cleft is a facial and oral birth defect that occurs while the baby is developing. This defect presents itself as an opening or slit in the lip or mouth area.

Symptoms of orofacial cleft

• Speech problems (nasal speaking voice)

• Ear infections or hearing loss

• Dental challenges like missing, extra, malformed, or displaced teeth.

• Deformities of the upper jaw (maxilla)

• Unrepaired oronasal fistulae (the hole between the mouth and nose cavity).

Treatment for orofacial cleft

Surgery might be required to correct this birth defect. However, to prevent the risk of its emergence, take prenatal vitamins and avoid alcohol consumption.

Clubfoot
Clubfoot encompasses a range of foot abnormalities typically present at birth, mainly manifesting as a baby's foot being turned inward. 

Symptoms of clubfoot

• The top of the foot is typically twisted downward and inward

• Underdeveloped calf muscles in the affected leg.

• The affected foot may be slightly shorter.

Treatment for clubfoot
Treatment for club foot typically starts within 1 to 2 weeks of the baby being born using the Ponseti method. This treatment involves gently manipulating and stretching the baby's foot into a better position, and then, placing it into a cast. This exercise is repeated every week for about 5 to 8 weeks.

However, some infants have severe deformities that don’t respond to stretching. When this happens, surgery may be recommended to adjust the child’s ligaments, tendons, and joints in the foot and ankle.

Hemophilia
Hemophilia is fundamentally an inherited bleeding disorder where the person’s blood doesn’t clot as it should, resulting in spontaneous bleeding and bruising after injuries.

Symptoms of hemophilia

• Bleeding that is difficult to stop after a circumcision.

• Frequent and hard-to-stop nosebleeds.

• Blood in the stool.

• Easy bruising.

• Blood in the urine.

• Hematomas (bleeding into the muscle or soft tissues).

• Bleeding from the mouth and gums.

• Nosebleeds that are frequent and difficult to stop.

Treatment for hemophilia
Hemophilia treatment  focus on replacing missing proteins and giving or replacing the clotting factors that are too low, or missing.

Particularly, recombinant clotting factors are recommended by doctors as the first treatment choice as they further reduce the risk of transmitting infections that might be present in human blood. Other treatments include Desmopressin, a hormone that stimulates the release of stored factor VIII, and antifibrinolytic medications, which prevent clots.

Other birth defects include:

• Spina bifida

• Duodenal atresia

• Sickle cell disease

• Dandy walker malformation

• Kidney defects

• Gastrointestinal defects (e.g. Oesophageal Atresia, Diaphragmatic Hernia, Pyloric Stenosis).

Does insurance cover birth defects?
Yes, some insurance companies do cover congenital birth defects. in fact, insurance for your child is one of the best ways to cover the cost of birth defect treatments.

For example, Prudential's PRUMy Child Plus plan provides sufficient coverage for one's child (up to the age of 7 years) if they are hospitalised, for up to 27 congenital birth defects. Thus, it’s advisable to get in touch with an insurance provider as soon as you know you’re expecting.

Conclusion
Some birth defects are minor and cause no health problems, while others may cause severe medical complications or even death.

Overall, the best way to prevent birth defects is to eat a healthy diet and take folic acid supplements before falling pregnant, as well as during pregnancy. Ensure to seek antenatal care early in your pregnancy to help ensure you have a healthy baby.  Additionally, an insurance policy that protects you and your baby will help ease all your worries.