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Damned if you do…

I read this report back before Christmas on the risks related to chorionic villus sampling (CVS), a common prenatal diagnostic test for Down’s syndrome, but I didn’t really take it in.

A study by Dr. Lewis B. Holmes of Massachusetts General Hospital for Children has reviewed past research on the possible link between CVS and birth defects and indicated that CVS may increase the risk of that the baby will be born with a birthmark, or “infantile hemangioma” or even limb defects.

According to this report from Reuters:

“In one study, Holmes reports, researchers found “cavernous or strawberry hemangiomas” in 12 of 95 (12.6 percent) CVS-exposed infants compared with 3 of 87 (3.4 percent) infants who had been exposed to amniocentesis, which is typically performed later in pregnancy.

In another study, hemangiomas were seen in 21.1 percent in 578 CVS-exposed infants versus 7.4 percent in 445 amniocentesis-exposed infants. Some babies in the CVS group, but none in the amniocentesis group, had multiple hemangiomas.

Holmes also looked at the evidence for an association between CVS and birth defects involving the limbs, especially the fingers, and found some “clear” correlations. The evidence suggests that these risks are greater when CVS is performed earlier in pregnancy, such as at 8 to 9 weeks gestation.”

The Editor-in-Chief of the Journal of Craniofacial Surgery points out that “CVS is generally done for prenatal detection of serious genetic diseases like Down’s syndrome in pregnancies at high risk” and that “the benefits of knowing the test results could outweigh the possible risk of hemangiomas or other abnormalities”.

Which is probably true, but the risk of birth defects should also be factored into any cost/benefit analysis of diagnostic testing. I certainly don’t remember it being mentioned when we were preparing for our CVS test.

I was fortunate enough to have the best part of two weeks off over Christmas, which meant I had plenty of time to spend with G and his brother. Maybe it was having lots more people around (although it was probably a coincidence) but G has really come on in leaps and bounds in the last few weeks.

He has always been active and prone to thrash about when he’s supposed to be having a rest but the last few weeks he’s so much more alert and communicative – always smiling and cooing/chattering away/blowing raspberries. He also does this great thing at the end of a cough (which he does a lot, see below) where he sighs contendedly.

He’s also started grabbing toys and putting them in his mouth, which is great, not least since he seems to be teething.

Anyway, I realised I haven’t written much about him recently so I thought I’d make up for it with a quick of his attributes and likes/dislikes:

Appearance – He looks just like his brother (which isn’t very helpful without pictures I know). The point is if we didn’t know he had Down’s syndrome I’m not sure I’d have guessed. His eyes are slightly slanted but you really only notice that when he’s tired. He also has the bulge of fat at the back of the neck.

He’s pretty small for babies his age, although average for babies with Down’s syndrome. Mostly his small stature is because he has short legs. His femur length is below average even for babies with Down’s syndrome – although that is really only noticeable when you see him in the altogether. His legs are so strong that I don’t imagine it will be a problem for him. G always seems to have a cold.

Likes
Standing up. It is almost impossible to get G to play “Row, Row, Row Your Boat” as he insists on standing up as soon as you pull him towards you. He just loves standing and it is quite hard to get him to sit properly – although we have to make the effort to help his muscle development.

Pretending to be Superman.

Train noises.

Christmas lights.

People stroking his face.

His hippopotamus pushchair/car seat toy. Almost guaranteed to stop him crying.

His Winkel teething toy.

His big brother J, who by the looks of it can do no wrong in G’s eyes.

Dislikes
Baths.

Sleeping in the day.