Genetic Screening

We had our first doctor's appointment yesterday.  They basically walked us through what to expect at upcoming visits, had us fill out some basic paperwork about our family health history and then told us about genetic screening.  Now I had read a little about genetic screening in my books, but I hadn't really processed any of the information.

All genetic testing is optional and a very personal decision to make.  The first round of any of the tests is a blood draw from the mother.  Then depending on the results of the blood work, an amniocentesis can be performed to achieve more accurate results, but also poses a small risk to the baby.  The way my doctor explained it to us, is that there are 3 groups of people:

Group 1:  People that don't care and don't want to know.  Results of the screens aren't 100% accurate and they don't want to be bothered by something that may or may not be true.

Group 2:  People that want to know, so that they can be as informed as possible on any genetic disorders that their children may be born with.

Group 3:  People that want to know and may decide to terminate the pregnancy based on the results.

My husband falls into Group 1 and I fall into Group 2, which made these decisions extremely difficult.  In the end, we did the testing because not knowing would have caused me a large amount of stress throughout the entire pregnancy.


There are 2 tests that you must decide on in the first trimester.  The first test is for cystic fibrosis.  In order for a child to have cystic fibrosis, both the mother and father must be carriers.     For this test, they first test the mother to determine if she is a carrier.  If she is not a carrier, then the child cannot have the disease.  If she is a carrier, they then test the father.  If they are both carriers, then there is a 25% chance that the child will have cystic fibrosis.  Something that I wish we had known prior to getting pregnant is that you can have this test done at any time, pregnant or not.  My advice now to others planning to conceive is to have this test done in advance and it will be one less thing to stress about during the pregnancy.

The second test is the First Trimester Screen and consists of an blood work and an ultrasound.  The goal of this test is to screen for genetic abnormalities such as Down Syndrome.