Congenital Amputation

Congenital Amputation is a birth defect which occurs in 1 in 2000-5000 live births. This happens when babies are born with a part or the whole of a limb missing. A baby born with this defect may have an entire limb absent or a portion of it.

Cause of Congenital amputation:

  1. Genetic causes: Congenital amputation may have a genetic cause. Mutation in genes responsible for protein synthesis may cause deformity in a part or the entire limb.
  2. Exposure to harmful substances like certain drugs may cause congenital amputation. In the 1970’s there were cases of children born with deformed limbs due to maternal exposure to thalidomide. More recently, exposure of the expectant mother to radiation at the Chernobyl nuclear plant in Russia caused congenital deformities in children.
  3. The bands of fibre which enclose a foetal limb may constrict to the extent that blood supply to the foetal limb is cut off. The foetal limb fails to thrive and may slough off in the womb. This is called the amniotic band syndrome and is occurs in 1 in 12000-15000 cases of congenital amputation reported.
  4. Research indicates that lack of folic acid in the mother’s diet in the first trimester of pregnancy, alcohol and drug abuse may cause congenital amputation.

Diagnosis:

Congenital amputation may be indicated on ultrasound tests. The absence of a limb may be indicated in late pregnancy; however it is difficult to pinpoint a missing part of a limb. Doctors may advise a detailed scan if a missing limb is indicated.

Treatment of Congenital amputation:

The treatment for congenital amputation varies from case to case depending upon the extent of handicap. Treatment involves an entire team of paediatricians, orthopaedist, psychiatrist, occupational therapists and the primary care givers. There is a difference of opinion on whether the child should grow without the limb and be fitted with the prosthesis at a later stage or whether the prosthesis should be fitted at the earliest. The leg bones may be treated through a procedure of removing the malformed bone and grafting the bone from other parts of the child's body, and inserting a metal rod for support.

Plastic surgery is a viable option in case of minor defects. In case of missing fingers or toes, grafting bones and flesh from healthy parts of the body.

With advances in ultrasonography, doctors have been able to detect primary signs of amniotic band constriction in the womb. With foetal surgery, doctors have managed to ensure adequate blood supply to the affected limb and deliver a healthy baby.

Prevention of foetal amputation

As foetal amputation is linked with maternal health, care must be taken to ensure that folic acid, vitamin and calcium supplements are ingested by the expectant mother right from the first trimester. Alcohol and drug abuse can be countered by awareness of the malefic effect on the unborn baby. The expectant mother should follow a healthy, balanced diet to ensure foetal growth.



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