Also called congenital disorder, birth defect refers to the problems a baby faces (when still in the womb) with regard to the formation, development and functioning of its vital body organs. The defect could hurt the baby’s metabolism or alter its body part’s structure or function.

Birth defects could be minor, requiring no special treatment; or major disabilities that need surgical or medical attention. Some birth defects may surface within a few months of pregnancy.

Types

Birth defects are primarily categorized as:

  • Structural defect: a specific body part’s absence or improper formation.
  • Metabolic defect: a missing or improperly formed body chemical, such as enzyme.

Examples

There are several thousand different birth defects. The more common defects are:

  • Cerebral palsy (permanent movement disorder)
  • Cleft palate and/or lip (improper mouth or lip tissue formation)
  • Clubfoot (structural issues relating to the ankle and foot, involving the bones, muscles, joints and blood vessels)
  • Developmental Dysplasia of the Hip (hip joint dislocation)
  • Congenital hypothyroidism (underdeveloped or no thyroid gland)
  • Fetal alcohol syndrome (intellectual disability, abnormal facial features, and central nervous system issues)
  • Neural tube defects (improper closure of the tube critical to the functioning of the brain and spinal cord)
  • Other defects could be related to the heart and gastrointestinal tract.  

The rarer birth defects include:

  • Albinism
  • CHARGE syndrome
  • Craniosynostosis
  • Dandy Walker malformation
  • Gorham’s disease
  • Hypotonia
  • Muscular dystrophy
  • Progeria
  • Spinal muscular atrophy
  • Tuberous sclerosis
  • Turner syndrome

Causes

Actual birth defect causes are not concrete. However, environmental and genetic factors may have a role to play in the manifestation of birth defects:

  • Baby’s exposure to viruses and chemicals before birth.
  • Infections in the mother during pregnancy, such as toxoplasmosis.
  • Other medical conditions such as chickenpox and rubella.
  • Alcohol abuse leading to fetal alcohol syndrome.
  • Specific medications administered by the mother.

The infections are rare since most mothers get vaccinated during the course of the pregnancy.

Genetic causes include:

  • The child gets its unique characteristics courtesy its parents, through chromosome inheritance. A mistake during this inheriting process could result in the baby being born with a damaged chromosome, or too many or too little chromosomes. For instance, Down syndrome is one such chromosome-related birth defect that happens when the baby gets one additional chromosome.
  • Recessive inheritance is another genetic cause wherein both parents transfer a faulty gene to the child, leading to birth defects such as cystic fibrosis and Tay-Sachs disease.
  • Dominant inheritance is a scenario when any one parent passes along the diseased gene. Such inheritance could lead to achondroplasia (a form of dwarfism) and Marfan syndrome that’s marked by abnormally long arms, fingers and legs.
  • Defects passed on to the male child by the mother includes color blindness, hemophilia.

Risks

No pregnant woman is immune to birth defects. Even healthy and infection-free women can deliver a kid with birth defects. However, the risks are higher in the following scenarios:

  • Genetic disorder or birth defects family history
  • Women who take drugs, alcohol, or smoke during pregnancy
  • 35 years or older pregnant women
  • Insufficient prenatal care
  • Untreated bacterial or viral infections, also including infections transmitted sexually
  • Usage of high-risk medications like lithium and isotretinoin
  • An obese or diabetic mother

Diagnosis

Prenatal ultrasound tests help detect birth defects even before the baby’s birth. The test also helps determine any problems with the mother, such as an infection. All the aforementioned birth defect examples can be detected through this test. However, such prenatal tests only indicate and not confirm things. There have been instances when a fetus has been found healthy during testing but was born with birth defect(s). Similarly, a perfectly healthy child could have been misdiagnosed to have birth defect(s) while in the womb. 

Newborn screening is a blood test done after the baby’s birth. The test helps detect defects that should be addressed immediately post birth. Amniocentesis (taking the amniotic fluid’s sample), hearing test and a physical examination could also be carried out post birth.

Treatment

Not all birth defects can be treated. In fact, some serious defects like spina bafida or cerebral palsy could stay long-term or cause the child’s death. Medicines may be prescribed to the mother to correct abnormalities before birth.

Surgery is an option to ease harmful symptoms or fix specific defects. In fact, plastic surgery is a common resort for babies with a cleft lip. Heart defects also require surgery.

Prevention

Birth defects are not rare and parents-to-be must take necessary precautions to ensure a healthy child. Some birth defect types could be mitigated if the pregnant woman takes folic acid before (at least a month prior pregnancy) and during pregnancy and consumes required iodine through diet. Prenatal vitamins help as well. However, healthy parents don’t guarantee a healthy, birth defect-free offspring.

Pregnant women must avoid drugs, alcohol, and smoking during and post pregnancy. Also, they must exercise caution when getting vaccinated and administering certain medications. Reducing and maintaining a healthy weight, managing diabetes, and religiously attending all prenatal appointments are also advised to bring down pregnancy-related complications.