Question

A pregnant woman has come to you for counseling.  She is in her late forties and this is her first pregnancy. She has had a difficult pregnancy and is very worried about having a miscarriage. She has come to you to determine whether her child will be born with Down Syndrome.  

a. Explain what test or tests you would suggest that could answer her question,

b. Explain to her why you would recommend this test.

c. What results would you expect if the fetus does indeed have Down syndrome?

PLEASE BE SPECIFIC

Answer 1

In this type of Down syndrome, children have only an extra part of chromosome 21. There are 46 total chromosomes. However, one of them has an extra piece of chromosome 21 attached

TESTS

FIrst trimester

An ultrasound evaluation and blood tests can look for Down syndrome in your fetus. These tests have a higher false-positive rate than tests done at later pregnancy stages. If results aren’t normal, your doctor may follow up with an amniocentesis after your 15th week of pregnancy.

Second trimester

An ultrasound and quadruple marker screen (QMS) test can help identify Down syndrome and other defects in the brain and spinal cord. This test is done between 15 and 20 weeks of pregnancy.

If any of these tests aren’t normal, you’ll be considered at high risk for birth defects.

Additional prenatal tests

Your doctor may order additional tests to detect Down syndrome in your baby. These may include:

• Amniocentesis. Your doctor takes a sample of amniotic fluid to examine the number of chromosomes your baby has. The test is usually done after 15 weeks.
• Chorionic villus sampling (CVS). Your doctor will take cells from your placenta to analyze fetal chromosomes. This test is done between the 9th and 14th week of pregnancy. It can increase your risk of a miscarriage, but according to the Mayo Clinic, only by less than 1 percent.
• Percutaneous umbilical blood sampling (PUBS, or cordocentesis). Your doctor will take blood from the umbilical cord and examine it for chromosomal defects. It’s done after the 18th week of pregnancy. It has a higher risk of miscarriage, so it’s performed only if all other tests are uncertain.

Some women choose not to undergo these tests because of the risk of miscarriage. They’d rather have a child with Down syndrome than lose the pregnancy.

b) These tests are accurate and easily determine the Syndrom.

c) Though the likelihood of carrying a baby with Down syndrome can be estimated by screening during pregnancy, you won’t experience any symptoms of carrying a child with Down syndrome.

At birth, babies with Down syndrome usually have certain characteristic signs, including:

• flat facial features
• small head and ears
• short neck
• bulging tongue
• eyes that slant upward
• atypically shaped ears
• poor muscle tone

An infant with Down syndrome can be born an average size, but will develop more slowly than a child without the condition.

People with Down syndrome usually have some degree of developmental disability, but it’s often mild to moderate. Mental and social development delays may mean that the child could have:

• impulsive behavior
• poor judgment
• short attention span
• slow learning capabilities