Mothers who get a positive CNV result

sleep-907769_1920When you’re pregnant, you can do a genetic test that gives you a Copy Number Variant (CNV) for your baby.  If the result is negative, all is probably well.  If it’s positive, however, it means that something could go wrong.  Or maybe not.  They don’t really know.  Nobody can really tell you what it means exactly, but it’s bad.  Maybe.

A recent study followed up 23 women who got positive CNV results during their pregnancies and went ahead to have their babies.  At 6-12 months, most of the babies (18 out of 23) were developing normally (the study didn’t say what was happening with the other 5).  Most of the mothers (16 out of 23) were very anxious about their children because of the test result.  Its ambiguous warning made them feel anxious about everything, from how much their baby smiled, to sleeping habits, to whether or not they would simply stop breathing.  Here are some quotes from the interviews:

Last night she was up crying for an hour and instead of knowing okay, shes teething, I go to does she have a kidney infection? Is there something wrong with her lung? Did she lose hearing in her other ear and now shes freaked out? So it is a constant…I try not to overreact but my mind is going all these places and then I can’t do anything about it—I cant ask anyone because nobody knows.
Once or twice it’s crept into my head where I’ve been like ’what if this microarray resultlike there’s something wrong with her and we don’t know and one day she just has SIDS and stops breathing. She’s got such a strangely mellow temperament so I think, ‘is there something wrong with her that she’s just so lovely’—which makes no sense.
To some extent this seems like ordinary, obsessive maternal concern with a bit of extra motivation.
But what about those handful of mothers who got the positive CNV result but who are not continually anxious?  How is that possible?
  • For one mother, it was her second child to have this positive test result.  She had been very anxious with the first one, who had ended up having no problems, and so she wasn’t so concerned for the second one.
  • One mother found that she had the same chromosomal condition herself, and because she was fine she didn’t worry about her child.
  • One mother had anticipated specific physical symptoms associated with a particular disorder, and when her baby looked normal at birth, she was no longer concerned.
  • Three mothers had babies with immediate health problems that they were dealing with, and so the CNV result was kind of irrelevant to them.

But most mothers were anxious and watchful in particular ways.  Some mothers had even started interventions with their children even though there were no signs of abnormal development (yet!).  Mostly, they relied on their health providers for assessments and on comparisons with other children.

The mothers interviewed for the study tended to speak in a positive way about the test.  One mother said,  I’m such a proponent of this testing and I talk about it with anyone that will listen to me.”   They know more about the test than I do; I didn’t get it when I was pregnant.  From the outside, though, the advantages of the test are not really obvious.  It’s not as if we’re not vigilant about our children’s development anyway.  What difference does it really make apart from making you feel bad?

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