In this informative article, gain insight into the prevalent birth defects that can happen to babies, and obtain valuable information regarding their causes, symptoms, and treatments. Equip yourself with the knowledge needed to ensure the optimal health and well-being of your precious little one.
According to the Centers for Disease Control and Prevention, 3%, or one in every 33 babies, are born with a birth defect in the United States. The effects of a birth defect on your child and your family will vary; some birth defects are mild and reversible, while others are more serious and may significantly influence numerous aspects of your child’s life.
Although birth problems are possible, it is acceptable that not every family is prepared for what may occur if their child is identified with a birth abnormality. There are available resources for assistance.
If your child is born with a problem, you should get a second (or more) opinion right away. Your pediatrician or obstetrician can recommend a specialist. Some birth defects can be found before the baby is born, while others may not show up until after the baby is born. This is why, in addition to specialist visits, you should also regularly take your baby to well-baby visits, as many birth defect complications can be treated if they are found and treated early.
Regardless of the diagnosis, learning that your child has a birth abnormality can be challenging. Here is further information about the most common birth defects in the United States and what may occur if your kid is born with one.
1. Congenital Heart Defects
How frequently they occur:
There is a multitude of causes for congenital cardiac problems, including genetic abnormalities and mistakes made during fetal development. Some may be so mild that no observable symptoms are present.
How they’re diagnosed:
In such circumstances, the problem is typically detected during a routine physical examination by the detection of an abnormal heart sound termed a murmur. Some murmurs are meaningless; more testing is typically required to identify if a cardiac defect causes your baby’s murmur. Severe heart problems are clear, and if they aren’t treated, they can lead to congestive heart failure, a disorder in which the heart can’t pump enough blood to the lungs and other organs.
Fast heartbeat; difficulty breathing; feeding difficulties (resulting in insufficient weight gain); swelling of the legs, abdomen, or eyes; pale grey or bluish skin. Occasionally, the signs of a heart problem become obvious in the hospital immediately after birth; if you have any worries, be careful to speak with your baby’s nurse. Others might not become apparent till your child is older.
Most heart problems can be fixed or improved through surgery, medication, or a pacemaker.
How frequently it occurs:
There are numerous types of ankle and foot abnormalities associated with clubfoot, which affects around 1 in 1,000 babies (males approximately twice as often as girls) and affects males approximately twice as often as females. The precise etiology of clubfoot is unknown, however it is likely due to a mix of genetic and environmental factors that influence embryonic growth.
Clubfoot can be mild, moderate, or severe and can affect any foot or both feet. Mild clubfoot is painless and will not disturb the infant until they begin to walk and speak.
For a minor instance, treatment begins immediately after diagnosis and consists of gently positioning the child’s foot in the proper posture and assisting him or her with particular activities. Nonetheless, the infant often needs plaster casts, bandaging with splints, special shoes, or surgery followed by exercises. Three to six months and several years of follow-ups are expected.
3. Cleft Lip or Palate
How frequently it occurs:
About 1 in 1,600 babies born in the United States have a cleft lip and cleft palate. Cleft lip or palate is particularly prevalent among individuals of Asian and Hispanic heritage and certain Native American communities. It occurs less frequently among Black individuals.
The specific cause is unknown, but genetic and environmental factors may prevent the baby’s hard palate, soft palate, or upper lip from separating properly in the womb.
The cleft can range in severity from small (a notch on the upper lip) to severe (involving the floor of the nostril, the lip, and the dental arch). A youngster with a cleft palate typically requires speech therapy. Language development can be impaired not only by the lip structure and palate but also by the results of middle-ear infections, which are frequent in infants and toddlers with this problem (perhaps because their ears don’t drain).
Infants with a cleft palate may also require assistance with feeding. Individuals with a cleft lip typically do not experience difficulties in this area. Because they have difficulty sucking, infants must be fed while seated using a special bottle. Depending on the severity of the issue, breastfeeding parents may be required to extract milk and bottlefeed their child until the cleft is corrected.
A cleft lip should be surgically repaired by around 3 months of age. Surgical repair of a cleft palate, which restores the partition between the nose and mouth, is often performed between 6 and 12 months of age to allow for facial growth. Although follow-up therapy is sometimes required, correction of a cleft lip or palate nearly often results in minimal scarring for the child.
4. Spina Bifida
How frequently it occurs:
Every year, about 1,400 infants are born with spina bifida in the United States.
There is no single cause of spina bifida that is known. The disorder is believed to be caused by a neural tube abnormality (the embryonic structure that grows into the brain and spine) that prevents the backbone from shutting entirely during fetal development. Certain cases of neural-tube abnormalities can be discovered by prenatal testing administered to the pregnant woman. When a congenital anomaly is detected, the infant is typically delivered by cesarean section so that specialists can be present during and after the birth.
Spina bifida ranges in severity from almost harmless to causing paralysis of the legs and bladder and bowel control issues.
In the most severe cases, infants require surgery within 48 hours of delivery or while still in utero using a new procedure that is not generally used. The parents are then instructed on how to exercise their child’s legs and feet in preparation for walking with leg braces and crutches. Some children will eventually require the use of a wheelchair and the assistance of orthopedics and urology specialists.
5. Missing or Undeveloped Limbs
Regrettably, the origin of this congenital anomaly is mainly unknown. Some scientists feel that exposure during pregnancy to a chemical or virus that has a modest effect on the pregnant mother or father could be a potential cause.
When a baby is born with a limb abnormality, the physician directs the parents to an orthopedic expert and a physical therapist. The youngster is then fitted as soon as feasible with a prosthesis (artificial body part) so that they become accustomed to it early on. In addition, they will undergo physical therapy to learn how to utilize the prosthesis, similar to how other children learn to manipulate body parts.
6. Sickle-Cell Disease
About 1 in 625 newborns are affected by sickle cell disease, primarily affecting African-Americans and Hispanics of Caribbean heritage.
How doctors discover:
Because of its prevalence, thirty states mandate that babies undergo a blood test to detect the disease.
The condition can cause incapacitating discomfort and damage essential organs, and is occasionally deadly. Sickle-cell illness damages the hemoglobin (a protein inside red blood cells) in a way that distorts the cells’ typical round shape, causing them to resemble bananas or sickles (hence the name).
These abnormal cells are subsequently caught by the liver and spleen and killed, resulting in anemia. In severe situations, affected children may seem pale, have difficulty breathing, and tire quickly. Crises occur when cells become stuck, obstructing tiny blood channels and cutting off oxygen supply to various sections of the child’s body.
The susceptibility to severe bacterial infections is a consequence of sickle-cell disease that manifests primarily in newborns and toddlers. Vaccination, including routine immunizations, pneumonia, and influenza vaccinations, and daily preventative penicillin treatments, are two weapons against this risk.
Although the disease cannot be cured, several innovative medicines that lower the intensity and frequency of crises are now being researched.
7. PKU (Phenylketonuria)
PKU (phenylketonuria) is a genetic metabolic condition that affects 1 in 15,000 newborns (less commonly among Black people and people of Jewish descent).
In the United States, all babies are checked for the disease soon after they are born.
A child with PKU lacks a critical enzyme that breaks down phenylalanine, a protein found in numerous foods. If PKU is left untreated, high levels of this protein in the body might lead to developmental problems.
Children born with PKU must adhere to a specific diet. Often initiated before the fourth week of life, this diet is low in phenylalanine-containing foods, such as breast milk and cow’s milk. A youngster impacted by this restriction must be fed a specific formula. When a baby grows older, he or she can consume certain vegetables, fruits, and grain products, but cheese, meat, fish, and eggs should generally be avoided. Frequent phenylalanine blood testing can assist in establishing what a child with phenylketonuria can and cannot eat.
8. Down Syndrome
How frequently it occurs:
Around 1 in 700 babies in the United States are affected by Down syndrome.
The typical physical characteristics of a child with Down syndrome include small ears that fold over at the top, slanted eyes, a small mouth that makes the tongue appear larger, a short neck, a small nose with a flat nasal bridge, and small hands with short fingers. Ear infections, heart problems, and gut anomalies are also frequent in children with this condition.
The majority of children with Down Syndrome will be able to reach several developmental milestones, such as walking, talking, and toilet training, but they often do so later than typically developing children.
9. Fragile X Syndrome
Fragile X syndrome predominantly affects males (about 1 in 4,000 to 7,000). Although 1 in 1,000 females are carriers, only 1 in 3 exhibits visible symptoms of the disease, such as intellectual disability. The severity of impairment ranges from minor to severe.
Fragile X syndrome can cause a person to have big ears, a long face, weak muscles, flat feet, big testicles, crowded teeth, a cleft palate, heart problems, and symptoms similar to autism. Children affected may also experience seizures. Unfortunately, many infants with Fragile X syndrome appear physically normal. Therefore a diagnosis may not be made until between 18 months and 2 years of age. In conjunction with other developmental delays, a lack of language development at this age typically necessitates testing.
Like with Down syndrome, children with Fragile X syndrome are capable of performing the majority of tasks typical of young children, but they often acquire these skills later than children without the disorder. Yet, as with the majority of these birth abnormalities, early-intervention programs initiated during infancy can aid in the child’s optimal development.
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