When I approach the topic of genetic screening in pregnancy with my patients, I am often interrupted with a condescending smile about half way through my spiel.
“No, thanks. We are CHRISTIANS, therefore we would never terminate a pregnancy. We will love this baby no matter what.” Often this reply takes on a southern “why bless your little heart” type of tone.
Because this is now a popular political football, moms should know that there are many reasons for genetic screening other than termination. Actually, in my 11 years of delivering babies I have never seen a patient who elected to have a termination due to the results of a genetic screening test. Having the testing can provide reassurance to perceived high risk moms and can help those who receive the diagnosis to better plan for the challenges ahead.
I spend a lot of time in our book discussing the many options for genetic screening. Many women get peace of mind and reassurance from having the testing. Having a normal test result is extremely comforting. Having a peaceful, faith filled pregnancy is the entire purpose of our book. And to me this is an important topic to consider in order to have the most peace-filled pregnancy possible.
Women over 35 often worry about being at higher risk for having a child with down syndrome. While the risk does increase with age, most down syndrome babies are born to women in the low risk age group, because these women HAVE the most babies. This is why we make testing available to all moms.
For more discussion on age related risks check out this previous post.
There are findings that can pop up on ultrasound called soft markers. One of these findings can be seen on up to 4% of normal pregnancies, but also can in certain instances be associated with down syndrome. In most cases they are not (yes, confusing I know) and they can cause undue stress if genetic testing has not been previously preformed.
While I have no doubt that you would love and cherish a child born with down syndrome, having a child with special needs does change your life. Being able to plan ahead by meeting with support groups and mentors can be very valuable. Special needs children can often not attend traditional childcare centers, so being able to plan for childcare can be essential.
Knowing about abnormalities can help you and your doctor plan for delivery. For instance, if the baby has down syndrome (or any other type of syndrome), it is often helpful to deliver at a larger hospital with a neonatal specialist on staff. These babies can sometimes have special needs after delivery. Up to fifty percent of babies with down syndrome will be born with a heart defect, so delivering at a hospital that has a pediatric cardiologist on staff would be beneficial. As another example, babies who have spina bifida are usually allergic to latex. If your doctor knew ahead of time, special precautions could be taken at the time of delivery. So, testing can have an effect on pregnancy management.
A new test that has recently become available is the MaterniT 21. This is a blood test that can be performed at any point after 10 weeks that can detect down syndrome with a sensitivity of 99%. The test amplifies DNA particles and looks at free circulating fetal DNA. This test seems better than traditional screening tests (such as the QUAD screen) because it can be performed at any time and is more accurate. It also does not have the risk of miscarriage that can be seen with amniocentesis. The technology is quite amazing if you think about it.
One of the biggest issues people have with the other screening tests is a high false positive rate (up to 20%). Meaning that the results come back positive 20% of the time when everything is actually OK, which can definitely cause some serious anxiety. The data on the MaterniT21 also shows a false positive rate of .5%, which is extremely low and thus is a huge benefit. It is currently approved for women over 35 or other risk factors for down syndrome (e: abnormal QUAD screen).
Genetic screening is not for everyone. It is a very personal decision that each women should prayerfully make based on her situation and risk. I attempt to lay out the options for my patients and let them decide what they feel is right for them. This additional option gives them one more choice that is accurate and doesn’t have a risk of miscarriage.
Correction: The first version of this post stated that MaterniT21 was FDA approved. This is not correct. The data from the initial trials have been published in peer reviewed journals and is ontrack for approval for 2013.