Let's talk about something a little more serious

The American College of Obstetrics and Gynecology (ACOG) recently revised their guidelines for genetic disorder screening. Specifically, they used to offer amniocentesis or Chorionic Villus Sampling (CVS) to women 35 and older or those with specific risk factors for genetic diseases. The new guidelines offer invasive testing to all women. The tests are called invasive because a needle is actually inserted into the uterus and tissue or fluid samples are removed. There is a small but real chance of miscarriage with these procedures. The old cut-off age of 35 was based on teh assumption of an equal risk of miscarriage and genetic disorder. The procedures are much safer now (as the needles are guided by ultrasound) and so the chances of loss mean that it would theoreticaly be safer for everyone to get them. So far, this doesn't sound controversial, I know. But here's the thing, there are no treatments for Down syndrome or other Trisomies (a trisomy is when the baby has three copies of any chromosome instead of the standard 2, Down syndrome is a specific trisomy). So, once you know about the condition before birth, there are two options:

1. Continue the pregnancy
2. Terminate the pregnancy

I have no opinion as to what other people should do with their own bodies. I know that having a baby with a serious genetic disorder is a big deal and if you don't think you can handle it, then that's OK. Some people don't think others should terminate no matter what so they don't want you to know. That seems a bit unfair to me.

There are legitimate reasons to know about conditions prior to birth that have nothing to do with termination. In the case of neural tube defects, a scheduled c-section can be planned for the birth to reduce stress on the baby.

In the case of Down syndrome, you may need extra help breastfeeding and knowing this in advance, doing the research and having the support system in place sets you up for greater success. Many DS babies also have heart defects and having an appointment with a cardiologist set might mean better, quicker treatment.

Nevermind the emotional issues involved. Some people don't like surprises. Some people would like to research and read up on a condition and treatment and care before their baby is home while they have the time to read. Some women who choose to continue pregnancies may look into making an adoption plan. A lot of couples would like to adopt a baby with Down syndrome.

And the ACOG is not mandating that you get this testing. If you have no desire to know about any birth defects and would not terminate no matter what and just want to spend 9 months falling in love with your baby whom you have sworn to love no matter what, that's OK too and no one will make you get tested.

The amnio can also reveal the gender of your baby with 100% accuracy (because it actually looks at the genetic make up of the fetus/baby). Will people opt to have the testing in the absence of risk factors just so they can paint the nursery?

I am from the Knowledge is Power school of thought, so here is what I would do:

• first trimester quad-screen with nuchal fold translucency scan, bone measurements, etc
• if questionable results, I'd probably do CVS
• if all's good, I'd wait for the big 18-20 week anatomy scan to confirm everything good
• if questionable, I'd probably do the amnio
• if all's good, I'd wait for the birth

Now, what would I do if any of the genetic testing confirmed a problem? I have no idea. Down syndrome isn't all Corky from Life Goes On. There are heart defects. There are increased risks of illness, learning disabilities, and so on. What if it found another trisomy? I have no idea. It would depend on the prognosis.

I'm not sure what circumstances would make me terminate a pregnancy. I am pretty sure I would terminate if there was a serious threat to my health. I need to be here to care for Chuckles. If the fetus had a condition incompatible with life (such as anencephaly - a neural tube defect that's basically lack of a brain), I would probably terminate. I just can't imagine carrying for 9 months and giving birth to a baby who would die minutes later. It's the other conditions, the ones where the baby could be ill or might suffer but would not necessaily die (or at least not right away) where you don't know.