Chorionic Villus Sampling (CVS) is a method of prenatal diagnosis that tests directly for genetic conditions in the fetus. A small sample of cells is taken from the placenta where it attaches to the wall of the uterus and tested to help identify chromosomal problems like Down Syndrome or other genetic diseases like Sickle Cell disease amongst others. Pregnant women can get this test 5-10 weeks earlier than the Amniocentesis test (this tests the amniotic fluid that surrounds and protects the fetus inside your uterus for certain birth defects).
CVS is a relatively safe procedure but an invasive one and it poses a risk of miscarriage (about 1 in 100) as well as a small risk of complications in your baby like limb loss. This may happen because anything that interferes with a fetus will naturally pose certain risks so it is imperative to talk with your doctor about the risks associated for your pregnancy and make sure the test is carried out by a very experienced professional who has done many of these tests before.
The test is carried out primarily in 2 ways: a) guided by ultrasound, a small needle is inserted into your belly to take a sample of cells from the placenta OR b) a thin plastic tube is inserted through the vagina to get a sample from the placenta. It can be uncomfortable but lasts only a few minutes. CVS is a very accurate form of testing and you can meet with a genetic counselor if your baby does end up having a genetic problem to know what options are available to you based on the results. The test is carried out just once during pregnancy and your doctor will suggest it when you are 10-13 weeks pregnant. It is generally offered to women or couples who have one of the following:
a) Aged 35 or over
b) Couples with a family history of genetic disorders like SCD
c) Women with other abnormalities found in prenatal testing
But at the same time, this procedure is not recommended for women who have:
a) Multiple gestations
b) An active infection like an STD
c) Women who have had vaginal bleeding during pregnancy
The CVS procedure is one that your doctor (OB/GYN) could recommend you undergo if you and your spouse both have the sickle cell trait and it then becomes a choice you both make to either have the baby or not. If this kind of testing was known about in the time of our parents and grand parents, I'm sure many of them would have selected a different course with the information they were given. It doesn't even seem like many Nigerians with SCT are aware of this option as I have seen, read and heard many stories of couples still calling their relationships off due to their status; even I didn't know about this test a few years ago (it was introduced into Nigeria in the early 1990s) and would have suggested it to my partner at the time had I been aware that I had this kind of option available to me.
The question now is, what would be the cost to have this done? First it depends on where you get this done and if you have insurance that can cover some of the cost. As far as Nigeria goes, I can't say for sure what the financial implications would be, one may need to visit a specialist to get that information. Tests as crucial as these need to be readily available and affordable to all and sundry to avoid unnecessary heartaches and pain in the future. I would hope that people would be more open minded about sickle cell disease and all its consequences and proceed to treat it as exactly what it is - a genetic disorder that can be predetermined for expectant mothers and their unborn kids. A word of advice though, it is a lot more likely that carriers with the AS-AS trait will have a more favourable outcome from the test than SS-SS or AS-SS couples as these genotypes are advised not to pursue relationships that will lead to having children.
Thanks for visiting the blog today and if you know of any couples who would benefit from this kind of test, please share with them. The information is out there and it could certainly prevent a lot of avoidable heartache.