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Common Questions by New Parents

What is Down syndrome?

Down syndrome is a condition that typically comes from a faulty cell division before conception in either the egg or the sperm. The most frequent type is called Trisomy 21 because each cell has an extra chromosome 21. While mother of any age can have a child with Down syndrome, it is more likely to occur with older mothers.

What are prenatal screening tests for chromosomal disorders?

Screening tests done in the first or second trimester can predict the chances of chromosomal conditions. These tests (such as the “quad” or “triple” screen, or the more recent first trimester test that includes nuchal translucency) provide only an estimate of chance. These tests will not tell you for certain whether you will have a baby with Down syndrome. Instead, you will just receive the probability of having such a child. For example, your screening results might report a ration of 1/200, meaning that you have 1 in a 200 chance of having a baby with Down syndrome. If your results on the screening tests show that your chances of having a baby with Down syndrome are higher than average, your doctor may suggest a diagnostic test.

What are diagnostic tests for?

Unlike tests of the mother’s blood, there are two tests that tell you whether or not you will have a baby with Down syndrome: an amniocentesis and chorionic villus sampling (CVS). During an amniocentesis, your obstetrician removes amniotic fluid from your uterus with a needle. This fluid contains fetal cells “shed” by the baby. These cells will be examined in the laboratory to determine if the baby has Down syndrome. Physicians often use amniocentesis because of its accuracy and relative safety, though there is a small risk of miscarriage. Similarly, CVS takes cells from the placenta. Chorionic villus sampling can be done earlier in the pregnancy (usually 10 to 14 weeks) but has a slightly higher miscarriage rate. Both of these tests will confirm whether or not a child has Down syndrome.

Why would parents want tests done?

There are many reasons for finding out about Down syndrome before a baby is born. These include being reassured, learning about Down syndrome, finding out about medical issues before delivery, as well as thinking about the options for your pregnancy, including adoption. Some parents have these tests done because they want themselves, their families, and their medical team to be as prepared as possible for their child’s arrival.

Why would parents not want tests done?

Mothers may choose not to have a screening test, a diagnostic test, or both types of tests or either type of test. Screening tests can raise anxiety and/or false expectations since both “positive” and “negative” results only estimate chances for a child to have Down syndrome. In fact, most mothers who “screen positive” will not have a baby with Down syndrome. Diagnostic tests, while accurate, carry a small risk of miscarriage. If you would not consider terminating your pregnancy under any situation, you may not want to take that risk.

Are there any medical conditions that are associated with Down syndrome?

Children with Down syndrome often have certain conditions that are more common than the general population. About half of babies with Down syndrome are born with heart defects. Most of these problems can be repaired surgically. It is important then, that your baby is tested for any possible heart conditions. Also, babies with Down syndrome are born more often with certain conditions, such as intestinal blockage, hearing, eyesight, and thyroid problems.

If my baby has Down syndrome, what will my pregnancy be like?

Your pregnancy with a baby with Down syndrome will be similar to other pregnancies. If your baby has other medical issues diagnosed during your pregnancy, such as a heart defect, you may be referred to a high-risk obstetric center. Pregnancies affected by Down syndrome do have a higher rate of miscarriage than other pregnancies.

What will my child be like?

Babies with Down syndrome tend to follow the same growing up steps as do all children, including crawling, walking, and hugging the people they love. They typically do theses things later than other children, and they usually have some level of cognitive delay. Also, children with Down syndrome often have physical or health issues, such as “floppy” muscle tone, frequent ear infections, and respiratory illnesses. Parents also note the good effects that children with Down syndrome have on their families. They almost always mention the special gifts of each child.

But don’t babies with Down syndrome have great difficulty learning?

With early services now available, children with Down syndrome can learn and thrive. Every child with Down syndrome is unique, just like children without Down syndrome. We do know that many children with Down syndrome are learning in regular classrooms, making friendships, playing sports and music, and are holding jobs in the community when they grow up.