Down Syndrome

Down Syndrome is a condition where a person is born with 47 chromosomes instead of the usual 46. This additional chromosome leads to deviations in the way the brain and body develops. The risk of having a child with Down syndrome increases with the age of the mother. It is not an inherited condition except in the case of Translocation Down syndrome. This birth defect reflects in children with delayed development. At birth, children with Down syndrome might have birth defects of the heart and eye problems. As they grow, there is short attention span and slow learning. Hypothyroidism and obesity are other characteristics feature of most persons suffering Down syndrome. Most people with Down syndrome have an abnormally shaped small head. There is a flattened nose and upward slanting eyes. Other recognizable symptoms of a person suffering Down syndrome are reduced muscle tone and short hands with stubby fingers.

After birth, blood tests help in checking for the additional chromosome. Such children have a single crease across the palm. ECG and x-rays of the chest and the gastrointestinal tract are also done to confirm the diagnosis of Down syndrome. Surgery is often done in cases where there is gastrointestinal blockage or heart defects. In some cases, Down syndrome is diagnosed during the gestation period. Ultrasound and amniocentesis and Chorionic Villus Sampling can diagnose Down syndrome in the fetus during pregnancy.

Parents of children with Down syndrome can join support groups that helps in connecting with people who have experience in dealing with this condition. Children suffering Down syndrome need special education that includes speech therapy, physiotherapy and mental health care. Massage helps in promoting wellbeing. Occupational therapy helps people with Down syndrome to live more independently; to manage their own dressing and feeding. A nutritionist can help in suggesting a well-balanced diet so as to control weight. Regular checkups with an ophthalmologist and auditory specialist aids in treating problems. The health of children with Down syndrome must be closely monitored.

Clinodactyly

Clinodactyly is derived from the Greek 'klinein' which means to bend, slope or incline and 'dactylos' which is finger, toe. Clinodactyly is a condition describing a bend or curvature of the fifth fingers, the little fingers, toward the adjacent fourth or the ring fingers. It is sometimes called '"fifth finger clinodactyly' to distinguish it from similar curving of other finger or toe. It is a minor congenital isolated anomaly which goes unnoticed most of the times. It can also occur in combination with other abnormalities in many genetic syndromes such as Russell-Silver syndrome or Down Syndrome (trisomy 21) and Klinefelter (XXY) syndrome, Banki syndrome, Blooms syndrome and Feingold syndrome.

Clinodactyly can be identified in prenatal ultrasound. It is statistically correlated with increased risk of chromosome aberration in the fetus. Clinodactyly is also diagnosed by treating physicians after a thorough medical history and careful physical examination. X rays are used to confirm the diagnosis. As such no treatment is required for clinodactyly. Some surgical procedures involve an osteotomy, making a cut in the bone and correcting the deformity, and stabilizing the finger until the bone and soft tissue are healed. Although surgery is usually successful in correcting this condition, there is a always a risk of recurrence and need for future surgery.

The exact incidence of clinodactyly is not known but it is estimated to be present in approximately 10% of the general population. It occurs in 60% of patients with Down Syndrome. If the condition is noted during a prenatal ultrasound, then amniocentesis may be warranted. Interestingly, clinodactyly can be an inherited condition as well, and may be present as a part of an associated syndrome.

AFP Test

AFP Test or Alpha-fetoprotein test is conducted on pregnant women to check the AFP level in the blood. The liver in the fetus produces AFP naturally. Determining the amount of AFP in the mother's blood will help identify any neural tube defect in the fetus. Neural tube defects arise in 2 out of every 1,000 pregnancies. AFP test also helps check for Down's syndrome. There are 60% chances for detecting Down's syndrome when the AFP levels are low in the blood. AFP can also be calculated from the sample of amniotic fluid of a pregnant woman. This screening test is generally performed between 16 and 18 weeks of pregnancy and is very sensitive between 15 and 17 weeks. The accuracy of the AFP test result lies in the exact age of the fetus. The AFT test is also referred to as maternal serum alpha-fetoprotein (MSAFP). AFP test is done on men and non-pregnant women too to confirm cancer in the testicles, stomach, pancreas, liver and the ovaries. High levels of AFP can indicate renal cell cancer.

Interpretation of AFP test results: In men and non-pregnant women, the values of the AFP test is 0-6.4 IU/mL (international units per milliliter), 0-20 nanograms per milliliter (ng/mL) or 0-20 micrograms per liter. In pregnant women of about 15 - 22 weeks gestation, the AFP results usually show 19-75 IU/mL, 7-124 ng/mL or 7-124 microgram per liter. AFP test values vary depending on the weight of the woman and race. Black women have higher values than white women and white women have higher values than Asian women. High AFP can suggest multiple pregnancies, fetus with neural tube defects, and abdominal wall defect in the fetus or fetal death. In non-pregnant adults, high AFP values mean cancer in the testicles or ovaries. High AFP can also indicate liver disease and bowel inflammation.