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Down’s syndrome

Introduction
The syndrome, named after John Langdon down, a chromosomal disorder caused by an error in cell division resulting on additional third chromosome 21, is known as Down’s syndrome. Down’s syndrome, a result of one of the genetic disorders causing mild to moderate mental retardation and medical problems associated with Down’s syndrome, occurs in approximately one among 800 births.

Human body cells contain 23 pairs of chromosomes inherited from parents. Human reproductive cells, the sperm cells in male and ovum in females each have 23 individual chromosomes, known as XX in females and XY in males and number 1 through 22. If after fertilization the egg contains extra material from chromosome 21, will cause Down’s syndrome.

Variation of Edward’s syndrome:
Trisomy 21:

*          Majority of Down’s syndrome falls in this category. In a situation, where all cells of individual contains additional chromosome 21, is known as trisomy 21.

Mosaic Trisomy 21:

*          In mosaic trisomy 21, additional chromosome 21 may be present in some cells, but not in all the cells.

*          The physical problem associated with mosaic trisomy 21 may vary depending the additional 12 chromosomal proportions.

Translocation Trisomy 21:

• In this situation, the additional chromosome 21 may stuck to another chromosome or additional chromosome may be translocated resulting in no increase in the number of chromosomes from 46.

• Although no additional chromosome is separately visible, individual will be a carrier of Down’s syndrome.

Occurrence of Down’s syndrome:

Down’s syndrome is believed to be a random event, occurs during formation of reproductive cells, ovum or sperm. Down syndrome is not necessarily inherited from parents having behavioral problem. In majority around 80% of cases the additional chromosome is derived from mother and likelihood to have a baby with Down’s syndrome increases with the age of woman.

Screening Test for Down’s syndrome in unborn child:

*          Blood test of pregnant mother is carried out to determine the increased likelihood of Down’s syndrome in fetus.

*         Test is done for serum alpha feto-protein (MSAFD), chorionic gonadotropin (hCG) and unconjugated estriol (uE3).

*          Lower values of MSAFP and uE3 and elevated levels of hCG suggests an increased likelihood of Down’s syndrome in unborn child.

*          These tests are only indicative and may require further testing to confirm the Down’s syndrome.

Confimatory Tets for Down’s syndrome in Unborn Child:

• Amniocentesis: This test is required to be carried out during 14-18 week of pregnance. A small amount of fetal cell is collected from amniotic fluid and examined.
• Chorionic Villus Sampling: Although this test carries a small amount of  risk of miscarriage. A small amount of fetal tissue is collected during 9-11 week pregnancy and tested for additional or extra material chromosome 21.
• Percutaneous Umbilical Blood Sampling (PUBS): Although the test carries the highest amount of risk of miscarriage, it is most accurate method of conforming Down’s syndrome in offspring. A small tissue is tested for additional or extra material in chromosome 21 during 18-22 weeks of pregnancy.

Physical features od Down’s syndrome:

Physical features in children having Down’s syndrome include

• Abnormal ears,
• Short neck,
• Flat face,
• Brushfield spots,
• Deep transverse crease on the palm,

It is not necessary that children with these physical features have Down’s syndrome.

Medical disorders:

Down’s syndrome causes slow growth, mental retardation, and medical disorders include enlargement of thyroid gland, nervous system related problem, hearing problem, congenital heart disease or pulmonary hypertension.

Treatment:

Treatment may include various therapies to children, early educational intervention, conducive environment, and medical treatment wherever possible and vocational guidance will improve the overall development.

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