Down Syndrome

A somewhat common genetic defect, a mother's risk of having a child with Downs syndrome increases with age. While many children with Downs syndrome are able to grow up and lead productive lives, most will require some level of extra care. Prenatal screening can help determine whether or not your baby is at risk of developing Downs syndrome.

What is Down Syndrome?
Babies born with Down syndrome have an extra copy of chromosome 21. The risk of Down syndrome goes up with maternal age. At age 20, the odds of a baby with Downs syndrome are 1 in 1,500. At age 35, they go up to 1 in 350. By age 43, the odds are 1 in 50. If you have already had a baby with Downs syndrome, you will be much more likely to have another one. Also, if a relative of yours has had one, you may wish to be tested to see if you carry a chromosomal abnormality. If this is the case, your chances of having a baby with Downs syndrome are much higher.

People with Downs syndrome often have anywhere from mild to moderate mental development difficulties (low IQ). It isn't possible to tell the intelligence level of a child with Down syndrome at birth; however, as long as the baby is cared for and kept in good physical health, the child will be able to learn, albeit at an indeterminate slower pace. Many children with Downs syndrome will be able to develop into independent adults who work and live on their own.

There are usually a few physical growth problems; short limbs, a wrinkle below the eyes and a smaller mouth.

There are also a variety of health problems that babies with Down syndrome can have. The possibility of these should be investigated by a doctor.

Heart Defects
A little less than half of babis with Down syndrome suffer from heart defects. An ultrasound of your baby's heart can be used to see if your baby will have a defect. After birth, a baby with Down syndrome MUST be inspected by a doctor to see if a heart defect is present. If a heart defect is present, surgery can be done to fix this, however medication to deal with the heart defect may still be necessary.

Stomach & Intestinal Complications
Some babies with Downs will have problems swallowing. This is often caused by blocked stomach or intestinal passages. Surgery can be done to fix this as well.

Other Concerns
Babies with Downs can also suffer from several other minor problems; susceptibility to cold, ear, and sinus infections, seizures, thyroid problems, bone and joint problems, muscle development problems, and hearing loss.

Prenatal Screening
Previously, screening for Downs syndrome took place in the second trimester through an alpha-fetoprotein test. Recently, though, a new, safer method of testing has been developed which allows parents to screen their baby for Downs syndrome, as well as trisomy 18, in the first trimester. Most other types of prenatal screening tests involve removing part of the placenta or amniotic fluid and carry a slight risk of miscarriage. However, this new form of screening has been able to eliminate this risk while making the results more accurate.

Known as the Combined First-Trimester Screening (CFTS), this prenatal test involves examining a sample of the maternal blood for specific proteins and hormones. Now that health professionals are being trained in this technique, it is becoming more available throughout the United States. Additionally, ultrasound or sonogram images of the fetus are analyzed to determine the thickness of skin on the back of the baby's neck, thereby eliminating almost all risk to mother and child.

The screening test has been found to be 87% effective at detecting Downs syndrome in the first trimester. Combined with second trimester screening, results are about 95% accurate. It can be performed as early as 11 weeks after conception. However, it is important to remember that this is an assessment test, not a diagnostic test, and therefore can only suggest your child's risk of having Downs syndrome.

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i just took my alpha-fetoprotein test today. i have an ultrasound next week. i am so nervous about the results. dont know what i will do. i'm under thirtyfive so i guess my risk is less but its not like women under thirty five can't have babies with down syndrome. everyone says i shouldn't cross that bridge until i get to it but i can't help to think about it and worry about it.
4 years ago