One of the things I keep thinking about with this and the other screening tests that have been discussed is that not all birth defects have a genetic origin. Couples that feel strongly that they would not continue a pregnancy can do all these tests, feel reassured, and get to their 20 week ultrasound, or the birth of their child only to find that something is anywhere from slightly to very wrong with their baby. Getting an all clear on downs or CF does not mean you won't find your baby has an extra finger, webbed fingers, club foot, cleft palate or a radically malformed heart. I think the education given to consumers about what tests there are, what is and is not covered, what results will mean, what you might want to do about the results etc, is woefully lacking and makes the shock of getting a bad result so much worse.
I think the availability of testing is generally a good thing, but there should be far better education about the tests and the conditions they are for that allow people to make informed choices of their own about whether to test in the first place and what to do if they do test and get a bad result. At 8:22 AM +1100 7/12/05, Helen and Graham wrote: ><http://www.smh.com.au/news/national/babys-sex-test-offers-new-hope/2005/12/06/1133829597883.html>http://www.smh.com.au/news/national/babys-sex-test-offers-new-hope/2005/12/06/1133829597883.html > >Baby's sex test offers new hope > >By Julie Robotham Medical Editor >December 7, 2005 >AUSTRALIAN doctors have identified the sex of 22 foetuses as early as five >weeks into pregnancy from cells taken from their mother's cervix, in a "proof >of concept" experiment they say could lead to improved tests for conditions >such as Down syndrome and cystic fibrosis. > >Gab Kovacs, professor of obstetrics and gynaecology at Melbourne's Box Hill >Hospital, said women would welcome the opportunity to know their foetus was >healthy as early as possible during pregnancy. > >Where an abnormality was detected and the woman chose termination, this would >involve fewer risks and medical complications if it could be done earlier. At >present, the earliest test that can determine definitively if a foetus is >affected by Down syndrome is chorionic villus sampling, in which placental >cells are cultured around 11 weeks of pregnancy. But the test is invasive, and >occasionally triggers miscarriage of healthy foetuses. Amniocentesis, >conducted later in pregnancy, has similar drawbacks. > >Professor Kovacs's initial study, reported this week in the Australian and New >Zealand Journal of Obstetrics and Gynaecology, was carried out in women who >were having abortions. The scientists compared the sex of the foetus >identified from foetal cells in the women's cervical mucus with the sex >chromosomes they found in the placenta after the termination. The results >matched in all cases. > >The next phase would be to conduct a larger study in women who were continuing >their pregnancies, Professor Kovacs said. This would provide extra information >about the reliability of the method, which uses polymerase chain reaction >(CVS) technology to confirm the cells are not from the mother and the sex of >the foetus. "We have ethics committee approval to do that in an antenatal >population," Professor Kovacs said. Detecting abnormalities would be no more >difficult technically than determining sex, he said. > >The trial would also confirm the technique - which Professor Kovacs described >as causing "less discomfort than a Pap smear" - was safe for the mothers and >babies. But it would be at least five years before it could go into widespread >use. > >Andrew McLennan, a consultant in foetal medicine at Royal North Shore >Hospital, said previous attempts to isolate foetal cells had failed, and >Professor Kovacs's technology was still at a very early stage. > >If the new technique proved effective, Dr McLennan predicted it would >initially be used with more traditional tests. > >A woman whose cervical mucus test showed she was at increased likelihood of >having a baby with an abnormality could be referred for amniocentesis or CVS, >he said, while women with more reassuring early results might opt not to have >further testing. > >Australian statistics show that more than 90 per cent of women whose foetus is >diagnosed with Down syndrome choose to terminate the pregnancy. -- Jo Bourne Virtual Artists Pty Ltd -- This mailing list is sponsored by ACE Graphics. Visit <http://www.acegraphics.com.au> to subscribe or unsubscribe.
