Types of Birth Defects : What You Need to Know

Author :-

Dr.Sreejaya

General Medicine & Diabetology

Birth defects are all you need to understand.

Introduction to Birth Defects

What Are Birth Defects?

Congenital deformities and chromosomal abnormalities. We cover birth abnormalities, including metabolic mistakes and prenatal blood diseases, elsewhere. Structural or functional abnormalities, including metabolic diseases, are birth defects. The terms 'congenital disorder' and 'congenital disorder' are interchangeable. The eleventh categorization revision makes it possible to review the entry.

There are causes and risk factors for birth defects.

BDs, or congenital abnormalities, are morphological and functional changes in embryonic or fetal development that are caused by genetic, environmental, or unknown factors that affect physical and/or mental function. About 3% of newborns and most pregnancy losses have BDs. Unknown factors usually cause BDs, which are complex and Risk factors include parental consanguinity, advanced maternal and paternal ages, teratogenic agents such as infectious agents and medicines, and poor nutrition, particularly folic acid deficiency. factors. These abnormalities increase first-year mortality. Globally, there is an increasing need for BD information for prevention purposes. Knowledge of BD aids in genetic counselling, treatment, and prevention.

Importance of Early Detection and Intervention

Infant screening for congenital diseases aids early discovery, treatment, and care. Neonatal screening programs and primary care provider training support the diagnosis and treatment of congenital disorders. Skilled primary care providers in most healthcare systems can examine all newborns and detect numerous birth abnormalities, including cardiovascular problems linked to early death and referral.

Types of Birth Defects: An Overview

Structural vs. Functional Birth Defects

Structural or functional birth defects. Skeletal and organ anomalies are structural birth problems. Functional birth defects affect the nervous, immunological, and endocrine systems. Functional defects may take months or years to detect, while major anatomical abnormalities are evident at birth.

Common Birth Defects and Their Impact on Health

Genetic anomalies such as Down syndrome or trisomy 21, or single gene deficiencies like cystic fibrosis, cause only a small percentage of congenital problems. Consanguinity increases the risk of rare genetic congenital illnesses and nearly doubles the chance of newborn and childhood mortality, intellectual impairment, and other defects.

Cleft Lip and Palate

Understanding Cleft Lip and Palate

During fetal development, the right and left sides of the lip and the roof of the mouth (palate) divide (cleft). In the 6th to 11th week of pregnancy, this divide forms the lips and mouth. A cleft lip or palate may result from the tissue not joining together.

Cleft lips might have a little slit or a big break from lip to nose. The cleft can occur on one, both, or the middle of the lip. Cleft palate openings can damage the front, rear, or both. Some newborns have both cleft lips and palates.

Causes, treatment options, and long-term outcomes

Genes. A DNA abnormality from one or both parents prevents the lips and mouth from uniting in utero.
Genetic syndromes. Genetic syndromes have several symptoms or defects. One or more genes may be the cause. Cleft lip or palate occurs in over 400 disorders, including Waardenburg, Pierre Robin, and Down. About 30% of cleft deformities are hereditary.
Health and environment. Poor health in early pregnancy, drinking, smoking, or taking anti-epileptic drugs may raise cleft lip or palate risk.

Down Syndrome

What is Down syndrome?

Most Down syndrome people have an extra chromosome 21. Debate surrounds the genetics of Down syndrome and the relationships between genotype and phenotype. These include gene dosage imbalance, which increases Hsa21 gene dosage and expansion. It also considers gene-phenotype associations in Down syndrome. According to the amplified development instability theory, a handful of trisomic genes produce a genetic imbalance that affects numerous genes' expression and regulation.

Genetic Causes and Diagnosis of Down Syndrome

Translocation Families can pass Down syndrome. Few children with Down syndrome have translocation, and only a small number have acquired it from one parent.

Either parent can translocate the balance. The parent carries some altered genetic material from chromosome 21, but no additional material. The parent may not have Down syndrome, but an imbalanced translocation can cause it in offspring.

Early Intervention and Supportive Care for Down Syndrome

Young people with Down syndrome or other issues receive systematic treatment, exercises, and activities via early intervention. IDEA needs them. Early intervention programs are mandatory for qualified children to boost newborn and toddler development and help families meet their requirements. Newborns with Down syndrome need physical, speech, and occupational treatment. By emphasising strengths and enhancing deficient abilities in all areas, early intervention programs accelerate growth.

Anencephaly

Overview of Anencephaly and Its Causes

The congenital defect anencephaly kills. The uterus fails to support the proper growth of the foetal brain and skull. Babies with the syndrome die within hours or days. Most pregnancies miscarry.

It is important to prevent and screen for neural tube defects.

By getting enough folic acid (vitamin B9) before and during pregnancy, you can greatly reduce your baby's risk of neural tube defects. Prenatal folic acid supplementation reduces neural tube abnormalities by 70%.

You may get folic acid tablets from your local health food store, pharmacy, or supermarket. Folate occurs naturally in:

leafy greens
Fruits with legumes (beans, peas, and lentils).
Whole grains are used to make breads and cereals.

Prognosis and Care Options

Healthy Western Australia's Folate and Pregnancy page offers information about ingesting folate during pregnancy.
Read NSW Health's pregnancy supplement recommendations.
Support and subsidies are available to help with the costs of caring for a disabled child. Visit Services Australia's disabled child care page.

Anotia and Microtia

Understanding Ear Development: Anotia and Microtia

Anotia denotes external ear absence. Microtia is an incomplete external ear. Aural atresia is ear canal absence. In the fifth week of fetal life, the complex process of development moves cells to become ears.

The causes, types, and treatment options for ear defects are discussed.

Old age or loud sounds can cause hearing loss. Medicines and surgery can treat hearing loss. Hearing aids and implants only help permanent ones.

Hearing loss has three types:

Mechanical conductive hearing loss. The eardrum and middle ear bones cannot receive outer ear sound waves. Surgery and medicine can help.

Injury to inner ear neurons produces permanent sensorineural hearing loss. Cochlear implants and hearing aids may assist.

Two types of hearing loss.

Outer or middle ear illnesses cause conductive hearing loss.

Too much earwax can cause conductive hearing loss. CERUMEN obstruction. By pushing wax further into the ear, cotton wipes induced hearing loss. Docs remove wax in the workplace.
External otitis; swimming ear. Outer ear canal water infection. Ear swelling can lead to hearing loss.
Eardrum swabs may contain beads, buttons, or cotton. Child physicians observe this. Occasionally, a bug in the ear causes hearing loss and irritation.
Eardrum hole Earring perforations often cause hearing loss. Such conditions may hinder the normal detection of sound vibrations.
Deformities in the external ear canal can arise from birth. Defect: Aresia. Canals may be closed. Surgeons can rebuild such ears.
Otosclerosis could be a growth in the middle ear bone. This doesn't vibrate sounds.
When the eardrum collapses, noncancerous tissues may form in the middle ear. Extreme conditions can damage the ear.

Sensorinality hearing loss

Most hearing loss is permanent. Muffled sound may result. People's voices might fade amid crowds, making talks difficult to follow.

Hearing loss from sensors:

Ageing: Age does this. A doctor calls this hearing loss presbycusis. High-pitched noise deafness is inherited.

Acoustic trauma:

Noise. Tool, vehicle, weapon, and concert noise can damage hearing. Such circumstances require ear protection.

Injury to brain:

Causing both hearing loss types

Changing air pressure unexpectedly: An aeroplane or dive might cause internal ear fluid to leak or burst. Possible inner ear nerve damage.

Acoustic neoplasm refers to a noncancerous brain-in-ear nerve tumour. Slow, one-ear hearing loss is most common.

Inside-ear autoimmunity: Over weeks to months, this rare condition reduces hearing in both ears. Ringing and fullness may occur.

Meniere's disease is characterised by symptoms such as tinnitus, giddiness, and abnormal hearing.

Hearing and Speech Development Considerations

Children develop speech and language differently. However, they grasp linguistic skills naturally. Below are milestones for normal speech and language development in children from birth to five. These milestones let doctors and other health experts assess a child's progress and need for assistance. Speech or language disorders or hearing loss can cause delays.

Craniosynostosis

What is Craniosynostosis, and How Does It Affect Skull Shape?

Babies with craniosynostosis have premature skull bone joining. This may alter head shape and create brain issues. Surgery can normalise skull growth. Early therapy can prevent brain development problems.

Types of Craniosynostosis and Related Complications

Following surgery, complications may include postoperative hyperthermia, meningitis, seizures, subgaleal and subcutaneous hematomas, and cerebrospinal fluid leaking. Reintervention and open craniotomy are more likely to cause complications compared to endoscopic surgery. Severe blood loss can cause 50% mortality and morbidity.

Surgical and Non-Surgical Treatment Options

Surgery unlocks bones and reshapes the skull to treat craniosynostosis. Surgeons treat craniosynostosis by making incisions from ear to ear to remove, reshape, and reconnect bones. Sometimes this is better. As technology advances, Nationwide Children's can perform more of these treatments in a less invasive manner.

Brain-moulded helmets have strong shells and moldable foam inside. Kids wear helmets 23 hours a day until their first birthday. The helmet guides the development of the skull towards a more typical form, rather than forcing it. People commonly perform helmet-assisted surgery between 10 and 14 weeks of age, as it depends on the robust skull development during the first year. Periodic orthotist visits are necessary, but the helmet itself does not require surgery. Under a child's doctor's supervision, an orthotist checks the helmet and head shape.

Diaphragmatic Hernia

Understanding Congenital Diaphragmatic Hernia

Due to a diaphragm abnormality, stomach contents protrude into the thoracic cavity in congenital diaphragmatic hernia (CDH). The type of hernia depends on the diaphragm abnormality. A deficiency in the posterolateral diaphragm causes Bochdalek hernias, the most common form (70% to 75%), which usually develop on the left side. The anteromedial diaphragm defect causes Morgagni hernias (20%–25%) and central hernias (2%–5%). Bilateral defects are infrequent and prognostically bad. Not mentioned here is acquired diaphragmatic hernia, which is usually caused by diaphragm trauma.

Causes, diagnosis, and impact on lung development

By week 12, the septum transversum and pleuroperitoneal membranes create the diaphragm. Pleuroperitoneal membrane development dysfunctions can induce diaphragmatic discontinuity and congenital hernia. The pushing of abdominal organs into the thoracic cavity can mess up lung development and lead to lung hypoplasia and problems with the blood flow to the lungs in people with CDH. Lung hypoplasia has terminal bronchioles, alveoli, and low airway generations. Lesion-side lung is more hypoplastic. Pulmonary hypertension may result from arterial medial wall thickening due to abnormal pulmonary vascular remodelling. Left ventricular hypoplasia and dysfunction aggravate PH in CDH. Another theory is that pulmonary hypoplasia causes abdominal viscera to herniate into the thoracic cavity and induce CDH. Pulmonary hypoplasia, abnormal pulmonary vasoreactivity, and PH cause most CDH deaths.

Treatment approaches and long-term care

Monitor fetal well-being after a congenital diaphragmatic hernia diagnosis. Some U.S. institutions treat mild-to-severe CDH in fetuses. An inflated balloon occludes the fetal trachea endoscopically at 26–30 weeks. Lung fluid causes swelling and growth. Tracheal constriction reduces type 2 pneumocytes, affecting surfactant generation. We remove the balloon around 33–34 weeks to create surfactant. This medication increases preterm delivery, but fetal surgery patients survive better than controls. All neonates need CDH repairs following fetal surgery. Tracheal occlusion may benefit moderate and severe CDH fetuses in TOTAL and FETO, multinational randomised controlled trials.

Heart Defects

Common Types of Congenital Heart Defects (CHDs)

Atrial septal defect
Ventricular septal defect
Patent arteriosus
Lung stenosis
Fallot tetralogy
Additional significant congenital heart abnormalities

Symptoms, diagnosis, and management of heart defects

Congenital cardiac defects may not show symptoms until shortly after birth. Infants with cardiac abnormalities may exhibit:

Bluish lips, skin, fingers, and toes
Breathlessness or difficulty breathing
Feeding issues
Low birth weight
Chest pain
Delayed development

Advances in Treatment and Prognosis

Although severe instances can be fatal, many CHD patients live long, normal, and joyful lives. Decades ago, 10% of CHD youngsters lived to maturity.

Causes and risk factors for birth defects

Genetic Factors and Inherited Conditions

Many babies have heart defects. 1–300 newborns have heart abnormalities. A severe heart issue may require surgery. Neural tube defects are common birth defects. The spine or brain develops improperly in one in 1,000 babies. Defects can kill or disable early. It is common to be born with lip and roof of mouth anomalies. 700–1,000 babies have cleft lips and palates.

Environmental and lifestyle influences

So-called “environmental” mother-to-foetal exposures Maternal sickness (rubella) and medication use cause only a small percentage of birth defects. Genetic and environmental factors cause most birth defects. Supplements and food fortification treat environmental folic acid insufficiency. Environmental culprits include nutritional imbalances, maternal smoking and alcohol use, pesticides, tap water disinfection byproducts, plastics, synthetic solvents, metals, and air pollutants.

Importance of Prenatal Care in Reducing Risks

Healthy pregnancies are key to healthy births. Pregnancy outcomes increase with early and frequent prenatal care. Visit a doctor before pregnancy to start this treatment.

Prevention and screening for birth defects

Routine prenatal screening tests

Pregnancy lab testing is standard. Some tests require blood. Others employ vaginal, cervix, or rectum fluid or urine samples. These tests may uncover issues that increase the risk of complications for both you and your foetus. These tests can treat several pregnancy issues.

Importance of Folic Acid and Nutritional Health

In infancy, adolescence, and pregnancy, when cells and tissues are expanding fast, it helps produce DNA and RNA, the body's genetic material. Folic acid and vitamin B12 help produce red blood cells and regulate iron levels.

Genetic Counselling and Family Planning Options

A genetic diagnosis or carrier status may impact your lifestyle, such as whether you have children. An inheritance pattern determines whether a genetic mutation will make your child sick. A genetic counsellor, who can explain your genetic risk and reproductive alternatives, might assist you in making this difficult decision.

Living with Birth Defects: Support and Resources

Long-Term Care and Supportive Resources

In-person, online, and phone connections with other families are possible. Your family's decisions may not be the best for another. Discuss medical decisions with your child's doctors and comprehend all possibilities.

There are several resources available for initiating and locating support groups.

Physicians

Your child's doctors can supply support group contacts. They might be a primary-care physician, genetic counselor, neurologist, orthopedist, or physical or occupational therapist. Local hospitals may provide support groups.

Government and community groups

The Global Gastroschisis Foundation is an international birth defects organisation. In Georgia, the Spina Bifida Association has state and local branches. Local or state March of Dimes offices may also help. Resources may be available from United Way offices. Phone numbers and addresses are searchable online.

Importance of Community and Specialised Care Teams

She assists people in understanding their health or social status. It involves standing up for those in need and organising events for the community. Promoting community rights and interests is crucial.

Conclusion

A pregnant parent never wants to learn that their fetus or baby is sick. Preventing most birth abnormalities is impossible, but you may lower your risk before and throughout pregnancy. Remember that Ovum Hospital is here to help you succeed.

FAQs

1: Which birth abnormalities are undetectable?

Certain birth conditions cannot be detected by prenatal imaging procedures such as ultrasounds. Degenerative diseases include Rett syndrome and muscular dystrophy. Hearing loss and blindness are sensory disorders.

Two foods that prevent birth damage?

Folic acid can be found in okra, pinto beans, navy beans, mustard greens, kale, spinach, chicken liver, beef liver, orange juice, asparagus, broccoli, avocado, green peas, cauliflower, tomato juice, peanuts, and carrots. Anticipate pregnancy.

3: When do birth malformations appear?

Born malformations can occur at any stage throughout pregnancy. Most occur in the first trimester, when your baby's organs develop. Birth defects can occur later in pregnancy when your baby's organs are developing.

4 Can stress cause birth defects?

The index of stressful life experiences increased the probability of all birth abnormalities, with isolated cleft lip with or without cleft palate and anencephaly showing the strongest correlations.

5: Does ageing increase birth defects?

After the age of 35, the likelihood of experiencing pregnancy issues that require a C-section rises. Higher chance of chromosomal disorders. Older moms are more likely to have babies with Down syndrome.