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Downs testing

(3 Posts)
CandyCrush77 Tue 22-Sep-15 16:24:34

Is there a test which gives you a definite answer as to whether the baby has downs? I know there used to be a test that gives you a risk rather than a definite answer but wondered if there was a new test out.

Skiptonlass Tue 22-Sep-15 16:51:53

Sort of.

Amniocentesis or CVS are the only accepted diagnostic tests out there, but even those have a (tiny) risk of picking up a false positive from, say, a mosaic placenta. They also have a small risk of miscarriage.

The NHS nuchal fold testing gives you a percentage risk, as does the less sensitive quad test.

There is also nipt - non invasive prenatal screening testing. These tests (harmony and panorama are the main ones) look at free foetal DNA in the maternal circulation. No risk to the baby at all. Technically, they are still screening, not diagnostic tests, but they are over 99% accurate.

At the end of the day, there is no absolute, rock solid, infallible method, until the baby is born and it's tissue can be tested directly.

miamiaMo Tue 22-Sep-15 17:09:01

I am not sure if there are any tests, but I found this one:...
The reason for this may be the occurrence of chromosomal aneuploidy (smaller or larger than the proper number of chromosomes of genetic material). Implantation of the embryo with aneuploidy may lead to the birth of a sick child e.g. with Down, Patau, Klinefelter, Edwards, Turner syndrome – however, the majority of pregnancies in such a case ends in miscarriage....
you can find smth like Genetic Diagnosis in a fertility clinic

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