Prenatal Screening

If you have received a prenatal diagnosis for Down syndrome or some other genetic intellectual disability and are looking for immediate support, please click here for a list of support resources

Many women first learn they are carrying a child with Down syndrome, or some other genetic condition, through routing prenatal testing. In 2007, the American College of Obstetricians and Gynecologists (ACOG) revised its recommendations to suggest that all pregnant women receive fetal chromosomal screening in their first trimester, not just those considered at risk because of advanced material age or some other reason. 80% of children born with Down syndrome are born to women under 35.

Many different opinions exist regarding prenatal screening. Since, at present, there is no prenatal treatment for Down syndrome, or other genetic intellectual disabilities, these tests can only inform the family that the baby she is carrying has a genetic abnormality. Ideally, parents will use the information to prepare themselves emotionally for delivery. Too often, parents feel pressured by their medical provider, family and friends, or the society in which they live to end their pregnancy. It is critically important that families receive factual, up-to-date, and balanced information about the positive outcomes of raising a child with a disability before any decision is made about the future.

If you have had a prenatal test that indicates the possibility that you are carrying a child with Down syndrome, or some other genetic intellectual disability, it is important that you find good resources to assist you right away. This can be a very lonely and challenging time, but there is plenty of help available.

For a list of resources, click here

First Trimester Prenatal Screening

Initial screening for Down syndrome, trisomy 18, and neural tube defects (such as spinal bifida and anencephaly) is recommended between the 11th and 14th weeks of pregnancy. A nuchal translucency screen (NTS) is performed to measure the thickness of the nuchal fold at the back of the neck. A blood test also measures the level of pregnancy-associated plasma protein (PAPPA). A thicker than normal nuchal fold, and lower than normal levels of PPAPA are possible, but not definitive, indicators of Down syndrome.

It is also possible that your physician will recommend a non-invasive prenatal test (NIPT). These recently developed tests, going by the brand names of MaterniT21, Panorama, Verifi, and Harmony, are able to identify the presence of "cell-free DNA" from the fetus in the mother's blood as early as 10 weeks. The accuracy of these tests far exceeds that of any other non-invasive test previously available. They claim to be 99% to 100% accurate for women considered to be at high risk, i.e., over 35 or having previously delivered a child with a genetic abnormality.

Second Trimester Prenatal Screening

Between 15 and 22 weeks, additional testing is recommended. A Prenatal Risk Quad Screen is conducted to measure the level of 4 blood factors:

• Alpha-fetoprotein (AFP)
• Unconjugated estriol (UE)
• Human chorionic gonadotropin (hCG)
• Inhibin-A

The above first and second trimester tests are screening tests only. If they indicate the possibility a fetus has a chromosomal abnormality, physicians will recommend an invasive test before confirming the disability. Invasive tests are chorionic villus sampling (CVS) usually done between 10 and 13 weeks, or an amniocentesis which may be done between 15 and 22 weeks. Both of these invasive tests run a small risk of causing a miscarriage.

What To Do

We naturally expect pregnancy and birth to be a joyful time, filled with anticipation of a new life coming into the world to delight parents, family, and friends. The emotions of sadness, fear, and distress are a natural consequence of receiving the unanticipated news that your child will have a disability.

News of an unanticipated prenatal diagnosis brings with it an overload of information and opinions from your doctor and others who mean well, but who are often insensitive to the emotional distress you are experiencing. At these times the medical world can easily cause us to feel distanced from our humanity - and from the humanity of our child. It is very important to retain perspective. Your child is no less a human person worthy of love and care, post diagnosis, than he or she was before.

Before any decisions are made, it is important to distance yourself from the many competing voices, and to look at the lives of those who have had children with disabilities. By far, most have a deep love for their children - in fact, a depth of love they never knew could be possible. Research has shown than families who have children with Down syndrome, and other disabilities, are very happy. Yours will be too. You just have to give yourself time to move past your sorrow to the anticipation of your child's birth. Life teaches us over and over again that sorry and grief are passing emotions that heal in time. When your beautiful little baby is born, the sorrow will pass. Parental love is an amazing thing. No one should risk losing the opportunity to experience it because of fear.

Please click here for a list of resources that can assist you as you search for clear and balanced information, and as you prepare for the birth of your child.