Birth Defects

A birth defect, also known as a congenital disorder, is a condition present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental.
A birth defect is something visibly abnormal, internally abnormal, or chemically abnormal about your newborn baby’s body. The defect might be caused by genetics, infection, radiation, or drug exposure, or there might be no known reason. Examples of birth defects include phenylketonuria, sickle cell anemia and Down syndrome.

What are birth defects?

  • A birth defect is something abnormal about your newborn baby’s body. Every four and a half minutes, a baby in the United States is born with a birth defect. A defect, which can affect almost any part of your baby’s body, can be:
  • Visibly obvious, like a missing arm or a birthmark.
    Internal (inside the body), like a kidney that hasn’t formed right or a ventricular septal defect (a hole between the lower chambers of your baby’s heart).
  • A chemical imbalance, like phenylketonuria (a defect in a chemical reaction that results in developmental delay).
  • Your baby can be born with one birth defect such as a cleft lip (a gap in their upper lip) or multiple birth defects such as a cleft lip and cleft palate (a hole in the roof of their mouth) together, or even a cleft lip and cleft palate with defects of the brain, heart and kidneys.

What causes birth defects?

For some birth defects, researchers know the cause. But for many birth defects, the exact cause is unknown. Researchers think that most birth defects are caused by a complex mix of factors, which can include:

Genetics. One or more genes might have a change or mutation that prevents them from working properly. For example, this happens in Fragile X syndrome. With some defects, a gene or part of the gene might be missing.

Chromosomal problems. In some cases, a chromosome or part of a chromosome might be missing. This is what happens in

Turner syndrome. In other cases, such as with Down syndrome, the child has an extra chromosome.
Exposures to medicines, chemicals, or other toxic substances. For example, alcohol misuse can cause fetal alcohol spectrum disorders.

Infections during pregnancy. For example, infection with Zika virus during pregnancy can cause a serious defect in the brain.
Lack of certain nutrients. Not getting enough folic acid before and during pregnancy is a key factor in causing neural tube defects.

What are the treatments for birth defects?

Children with birth defects often need special care and treatments. Because the symptoms and problems caused by birth defects vary, the treatments also vary. Possible treatments may include surgery, medicines, assistive devices, physical therapy, and speech therapy.

Often, children with birth defects need a variety of services and may need to see several specialists. The primary health care provider can coordinate the special care that the child needs.

FAQ:

What is spina bifida?

Spina bifida is a birth defect that involves incomplete development of spinal cord or its coverings. It occurs in 1st month of pregnancy when baby’s spine fails to close properly.

Three types:

  • Occulta (the mildest form) – where spine is malformed and lies open, but still nicely covered by skin.
  • Meningocele – where spine is malformed and lies open and only the covering layers (meninges) comes out through the opening in the form of a sac or swelling.
  • Myelomeningocele – where spine is malformed and lies open and through this opening the nerves or spinal cord along with it’s coverings (meninges) bulge out.

How to diagnose spina bifida?

Usually, parents approach neurosurgeon with a baby having swelling present in the midline of the back (or also neck or brain sometimes). This swelling may or may not be covered with a normal skin cover.

Sometimes there is no swelling (in occulta), but there may be hairs / fat / dimple or hole in the midline back – here spina bifida should be suspected. This is mandatory to check the back of any baby after the birth.

For all 3 types of spina bifida, MRI scan is must.

MRI must also include ‘MRI brain’ at the same time (usually it is missed and not advised); because many babies also have hydrocephalus (excess of fluid in the brain).

What is the treatment for spina bifida?

Treatment depends upon type of spina bifida:

Occulta: rarely need any treatment

Meningocele: Surgery required during infancy in which doctor pushes the meninges (protective covering layer of the nerves and spinal cord) back and close the hole.

Myelomeningocele: doctor pushes nerves along with it’s protective layers back and close the hole.

What are the associated problems with spina bifida?

At birth, if swelling is not nicely covered with skin then it can rupture and baby can develop life threatening infection. If nerves (spinal cord) are damaged or not developed at all then baby may present with weakness of the legs or paralysis. There may be absent control of urine and stool. All these above problems carry poor prognosis, and thus parents need to counselled well and told about guarded outcome.

Some unfortunate patients go unidentified and undiagnosed, grow bigger and later develop weakness of the legs and loss of urine and stool control. Thus early detection is the key; and after birth every baby’s back should be examined nicely for any hairs / fat / small dimple or hole. If found so, a neurosurgeon should be approached and MRI must be done.

If patient has weakness of legs and loss of urine / stool control, then they need subsequent management for problems of these.