Pregnancy and Down Syndrome Baby

Down syndrome is becoming the commonest birth defect in Western Countries. Down syndrome is abnormality in chromosome that is trisomy 21 (three copies of chromosome 21 instead of two copies).

Some risk factors predisposing to Down syndrome are following:
 Increased woman’s age for pregnancy that is the risk increases with increase with maternal age for pregnancy
 Previous child with Down syndrome
 Parents as a carrier of chromosomal translocation; however, people having Down syndrome rarely reproduce

Characteristics of Down syndrome are following:
Impairment of cognitive ability or mental retardation
Low muscle tone
Single deep crease in the centre of palm
Small stature
White spots on iris known as Brushfield spots
Skin folds in the inner corner of the eyes

Down syndrome may be associated with abnormalities like congenital heart defect, respiratory and hearing anomaly, thyroid disorders, childhood leukemia, etc.

Diagnosis: Diagnosis is composed of screening test and confirmatory diagnostic test. Screening test is done to assess the risk for Down syndrome while diagnostic test is to put confirm diagnose. According to new guidelines of Obstetrics and Gynecology of American College Obstetrician and Gynecologist, it is recommended to all pregnant women to undergo screening test for Down syndrome during their first trimester.

Screening tests used for screening test for Down syndrome are:
Ultrasound
Blood test Blood test is done to look for Alpha Feto Protein (AFP) produced by fetus, Human Chorionic Gonadotropin (hCG) and unconjugated estriol produced by placenta. If there is increase in hCG and decreased AFP and estriol indicate of likelihood of a baby having of Down syndrome.

When there’s presence of risk factors and screening tests that indicate about Down syndrome, then diagnostic tests are done that are following:
Chorionic villus sampling – performed between 10 to 12 weeks of gestation
Amniocentesis – performed after 15th week of gestation
Percutaneous umbilical blood sampling – performed after 18th week of gestation.

Now recently new method has been developed to determine unborn baby of a pregnant woman has Down syndrome or other birth defects that is blood DNA test. In this test, small amount of blood is taken from mother. In blood, DNA of fetus is examined for the chromosomal trisomy and other chromosomal defects. This method is safer than other methods mentioned above as they carries risk for miscarriage or birth defect. In this newly developed method there’s nothing to do with fetal blood circulation and no compromise with fetal activity and hence, no chance of miscarriage and birth defect. Though this test is costly, it is the safest and it will be cheaper in future when it is used widely.


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