New Dilemma with Down Syndrome

I recently went to my hairdresser and congratulated her on the birth of her new son. His adorable picture is strategically placed on her mirror, which interferes with your ability to concentrate on your new hairstyle because he is so cute.

The next exchange of words was shocking. I was told that he has Down syndrome, also known as Trisomy 21 (T21).

I told my friend congratulations still stand, and this baby was lucky to be born to parents so loving. I know that he will have joy and add joy to the lives of all around him.

Children and adults with Trisomy 21 often are the happiest people, and their joy is infectious. My article is dedicated to him and my friend Lisa, an adult with Trisomy 21.

Here are some facts regarding Trisomy 21 from the Centers for Disease Control and Prevention:

• One in 691 births in the United States are children with T21.                   
• This genetic problem affects 400,000 Americans.
• Eighty percent of children with T21 are born to moms under the age of 35.
• Advanced age in women (40 years or older) increases the risk of having a child with T21 to one in 100 births.
• The average life span of a person with T21 is 60 years. In 1983, it was 25.
• No national registry records how many people with T21 have high functioning abilities vs. low functioning abilities.
• Half of children born with T21 have congenital heart defects.
• People with T21 have some form of mental and physical retardation.
• Prenatal testing cannot reveal the level of functionality of the child.

Trisomy 21 is a genetic disorder that occurs when the egg and sperm unite. Normally each parent donates 23 chromosomes to the child, but with T21 an extra set occurs, giving each cell of the fetus 47 chromosomes rather than the usual 46. The extra set accounts for all the physical and mental anomalies. The usual appearance of a baby with T21 includes the following, according to the CDC:

• A flat face with an upward slant to the eye, a short neck, small ears and a large tongue.
• Tiny white spots on the iris (colored part) of the eye.
• Small hands and feet.
• A single crease across the palm of the hand.
• Small pinky fingers that sometimes curve toward the thumb.
• Poor muscle tone or loose ligaments.

Prenatal can determine whether a fetus has T21. One of those tests is amniocentesis, which is performed at about 15 weeks and involves a needle extracting cells from amniotic fluid.

Another test is called chorionic villus sampling (CVS), which occurs a few weeks earlier than amniocentesis. It takes a small piece of placenta for analysis.

As I began to gather research on Trisomy 21, I discovered some pretty shocking 21st-century realities.

One shocker is a new test that can be performed at 10 weeks of pregnancy called MaternT21. It analyzes fetal DNA that enters the mother’s blood via the umbilical cord and has 98.6 percent accuracy. It is intended to be less invasive than amniocentesis and hormone testing.

The slippery slope just got greased. You see, the trend for increased maternal age would imply an increase in T21 births of 42 percent. In actuality, T21 births fell by 11 percent, according to the journal Prenatal Diagnosis.

It would appear that more parents are using prenatal tests to decide whether to maintain a pregnancy or abort.

There are several questions to be asked:

• Do positive T21 results warrant pregnancy termination?
• Can this kind of technology be applied to other fetal situations that may be less physically debilitating or not at all disabling?
• Will the decrease in T21 births cause less funding for existing T21 programs because the programs have fewer participants?

The answers remain to be seen. Stay well.