11. Down Syndrome

Nearly every pregnant woman receives information on Down syndrome. When you’re older, you may be offered various tests to determine whether your fetus is affected by the condition.

Down syndrome was given its name by British physician J. Langdon Down in the 19th century. He found babies born with the syndrome have an extra chromosome 21. Symptoms of the condition are present to some degree in all babies born with the syndrome. These symptoms include mental retardation, a sloping forehead, short, broad hands with a single palm crease, a flat nose or absent nose bridge, low-set ears and a dwarfed physique.

Through medical research, we know that some women are at higher risk of giving birth to a child with Down syndrome. Women with increased risk include older women, those who have previously given birth to a child with Down syndrome and those who have Down syndrome themselves.

The statistical risk of delivering a baby with Down syndrome increases with age. However, there are some positive aspects to these statistics. If you’re 45, you have a 97% chance of not having a baby with Down syndrome. If you’re 49, you have a 92% chance of delivering a child without Down syndrome.

Your risk of delivering a child with Down syndrome, depending on your age, is shown below:

at age 25, the risk is 1 in 1300 births

at 30, 1 in 965 births

at 35, 1 in 365 births

at 40, 1 in 109 births

at 45, 1 in 32 births

at 49, 1 in 12 births

Tests to help detect Down syndrome include amniocentesis, chorionic villus sampling, alpha-fetoprotein test, quad-screen test, triple-screen test, instant risk assessment, nuchal translucency screening and ultrasound. Discuss them with your healthcare provider for further information.


Diagnosing Down Syndrome before Birth

Many tests can help diagnose Down syndrome in a developing fetus. They’re not offered to every woman; they are usually offered only to women at high risk, those 35 and older carrying one baby and those over 32 carrying multiple fetuses. However, the American College of Obstetricians and Gynecologists (ACOG) now recommends that all pregnant women be offered Down syndrome testing. Their recommendation is based on the fact that the majority of babies born with Down syndrome are born to younger women. Some women at higher risk choose not to take the tests because they wouldn’t terminate their pregnancy even if the child had Down syndrome.

If you are concerned about Down syndrome, have one or more of the tests listed below. You might have the test if you and your partner (and the rest of the family) want to be mentally and emotionally prepared for this special child. You might want the test if you would consider terminating your pregnancy.

Many families say they would welcome any child into their lives, no matter what his or her condition. If this is your attitude, enjoy your pregnancy and don’t worry about it.

Down Syndrome Children Are Special

People want to know if there are any positive aspects of giving birth to a child with Down syndrome. The answer is, “Yes!”

A few years ago, I delivered a Down syndrome child for Anne, a patient in her early 40s. We did an amniocentesis early in the pregnancy and knew to expect Down syndrome. A year later, she reported to me the joy and love this special child had brought the entire family. Anne told me, “I don’t know what our family would have been like without the blessing of this very special child. We cherish her.”

As a society, we have come to realize children born with Down syndrome bring a special, valuable quality of life into our world. Down children are well known for the love and the joy they bring to their families and friends. They remind us of the pleasure in accomplishing simple tasks when they learn new skills. They embody the concept of unconditional love, and we can often learn how to cope and to grow as we interact with them.

Rearing a child with Down syndrome can be challenging, but many who have faced this challenge are positive about the impact these special children have in their lives. If you have a child with Down syndrome, you may work harder for every small advancement in your child’s life, but your rewards will be great. You may experience frustration and feelings of helplessness at times, but every parent has these feelings at some time.

Often we only hear about the negative side of raising a child with Down syndrome. We hear about the worst-case scenario and never hear about the other side of the issue. All women carrying a child with Down syndrome need to know the following facts.

The average IQ for a child with Down syndrome is between 60 and 70. Most are in the low, mildly retarded range. Some children with Down syndrome have normal IQs. IQ scores for those with Down syndrome have risen steadily in the last 100 years. Less than 5% of those with Down syndrome are severely to profoundly retarded.

The reading levels of Down syndrome children who are in special-education programs in public schools range from kindergarten to twelfth grade. The average is about third grade.

Nearly 90% of those with Down syndrome are employable as adults. Most adults with Down syndrome are capable of living independently or in group homes. A person with Down syndrome who survives infancy has a life expectancy of 55 years or more.

Many families are on waiting lists to adopt a child with Down syndrome. A child with Down syndrome usually makes a positive impact on a family.

It’s Your Decision

If you’re carrying a child with Down syndrome, you and your partner have many things to consider. Many couples welcome the birth of this special child into their families. Others elect to terminate the pregnancy.

Whatever decision you make, it must be your decision. Do not allow yourself or your partner to be pressured into making any decision without your full understanding of the situation. Seek information. Talk to parents of children with Down syndrome. Make your decision based on the feelings you and your partner share. There are positive and negative aspects to consider, as there are with any child. Whatever decision you make may be difficult; involve your healthcare team and your partner in the process.

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