I underwent prenatal genetic testing during my pregnancy with Thomas (when I was 38) and with Alex and Jon (when I was 39). Both times, my husband and I agonized over the decision. We received genetic counseling before consenting to amniocentesis with Thomas. This is standard practice in Ontario, probably elsewhere as well. However, counseling is required only once and therefore we were not sent for (nor did we seek out) the standard counseling classes when I was pregnant with the twins.
But prenatal testing is different for multiple gestations. We gradually learned of these differences through our own research and through umpteen phone calls to the wonderful team of counselors at CHEO (our regional children’s hospital).
There are many academic and technical papers on the web describing the procedures, risks, and benefits of prenatal testing. Some of these talk about multiples. However, I have never found a website, written in plain language, that lays out the differences between testing in a single versus a multiple pregnancy.
So, with the hope that it will help other parents making this profoundly emotional decision, here is what I have learned. (And here’s my disclaimer: I am not a doctor. This is my understanding of the facts but best to check them with your doctor!)
1. If you have fraternal twins, the chances that you will give birth to a child with a genetic abnormality are much greater. The chance that any one of the babies is affected remains the same as for a singleton, since fraternal twins are the result two separate conceptions (two eggs; two sperm). However, because you’re having two babies at the same time, the total risk for that birth is doubled.
2. Prenatal screening in a singleton pregnancy usually involves testing the mother’s blood in the first and second trimester to measure levels of fetal proteins (called maternal serum screen), and an ultrasound in the first trimester to measure a fluid-filled sac at the back of the fetus’ neck (called nuchal translucency). In a multiple pregnancy, however, the blood tests are not an accurate screen for Down syndrome or trisomy 18. Therefore, screening for these conditions is done using nuchal translucency only.
3. The maternal serum screen is not accurate for two reasons. First, there is not enough information on normal levels of fetal proteins in a multiple pregnancy. It’s therefore difficult to know what is abnormal. Second, normal versus abnormal gets completely messed up when more than one fetus contributes proteins to the mother’s blood. For example, higher levels from one baby may be masked by lower levels from its sibling.
4. Because the blood tests cannot be used, the screen is much less reliable. In a singleton pregnancy, when blood tests are used, the boundary between a positive and negative screen is usually set at one in 250. In other words, if the screen shows that the risk of Down syndrome or trisomy 18 is greater than one in 250, the screen is positive; if it is less than one in 250, the screen is negative. However, in a multiple pregnancy, this all-important boundary is set at one in 375. This means that many more results will be positive, and this is simply because the test is not very accurate.
5. Amniocentesis increases the risk of miscarriage. There is about a one in 200 chance of fetal loss following the test. This risk is higher for twins that are in separate amniotic sacs. This is because two needles are required sample fluid from the two sacs. The rate of miscarriage may be increased for up to five weeks following the test. (I haven’t read about amniocentesis for higher order multiples. I’m not sure if it’s done.)
6. Amniocentesis with twins can be tricky not only because the babies may be in two amniotic sacs, but also because they may be on top of each other or positioned in another way that makes it difficult to reach. If this happens (as it did with us), the test may be delayed for a week or so until the babies shift. Furthermore, it is recommended that no more that two needles are inserted during one test. If the doctor cannot successfully draw two samples after using two needles, the test must be delayed at least 24 hours.