[Fegasderty]

New research has found that routine screening using a non-invasive test that analyzes fetal DNA in a pregnant woman’s blood can accurately detect Down’s syndrome and other genetic fetal abnormalities in the first trimester. Published early online in Ultrasound in Obstetrics & Gynecology, the results suggest that the test is superior to currently available screening strategies and could reshape standards in prenatal testing.

Current screening for Down’s syndrome, or trisomy 21, and other trisomy conditions includes a combined test done between the 11th and 13th weeks of pregnancy, which involves an ultrasound screen and a hormonal analysis of the pregnant woman’s blood. Only chorionic villus sampling and amniocentesis can definitely detect or rule out fetal genetic abnormalities, but these are invasive to the pregnancy and carry a risk of miscarriage.

Several studies have shown that non-invasive prenatal diagnosis for trisomy syndromes using fetal cell free (cf) DNA from a pregnant woman’s blood is highly sensitive and specific, making it a potentially reliable alternative that can be done earlier in pregnancy.

[9mm_fan]

I'm currently pregnant with baby No. 1, and took this test when the traditional 11-13 wk blood test showed an elevated chance of a chromosomal disorder. It's usually called the Harmony test, or several other names. The only problem was that in NY, where I live, you have to be over 35 or have a history of chromosomal disorders, so I had to travel to New Jersey for it. It's pretty controversial because some people say it will lead to more people ending pregnancies. I see it as very beneficial though -- it's much less invasive test than a CVS or amnio, which is a lot of stress for pregnant ladies, and can result in miscarriages. Also, I got to find out the baby's sex a lot earlier, which was a fun perk. (For anyone wondering, the results showed the baby didn't have a chromosomal disorder. And it's a boy.)

[Beerinkol]

Just my $0.02: Tests like these and, more importantly, tests like these paired with strategic termination of defective pregnancies could save people a lot of heartache (not to mention money) over time.

If anything, it seems like carrying a defective pregnancy to term knowing about the defects would be much less morally defensible than termination. Down's Syndrome, along with many other severe genetic defects, effectively dooms its sufferers to a lifetime of insurmountable struggles. To proceed with a defective pregnancy is to willingly doom you and your child to a lifetime of suffering.

Here's an example: my cousin, now seventeen, was born with severe mental retardation. I do not have the name of the specific condition on hand, but that shouldn't matter much. The fact of the matter is that she, a seventeen year old girl, functions at a level typically seen in newborns. She cannot walk, she cannot talk, she cannot even clean herself. Nothing in her life has any substance, can have any substance because of her condition. As a result, her parents will be taking care of her every day until they die...and when the inevitable happens she won't even know they're gone.

I wouldn't wish a condition so terrible on my worst enemy.

With that in mind, people acting like there would be some great loss due to systematic testing and termination of defective pregnancies just drive me up a tree. Who the hell are they to tell some unfortunate couple that their shitty spin on the wheel of genetics is the only one they'll get? What about the children themselves? Is it right to willfully and knowingly doom a perfectly innocent being to a lifetime of being trapped in a brain dead shell?

I won't change anybody's mind, I know that, but I am sure as hell having this kind of testing done in the future; and any defective pregnancies will be terminated immediately.

Tl;dr: It's far, far more cruel to know about a defect and still have the child than to terminate the pregnancy and start over.

[brraverishhh]

In agreeance with what you're saying, I tend to think in terms of a pregnant woman does not have a child. She has a pregnancy, and therefore the potential to have a child at a predictable point in the future. Does an expecting mother not have some obligation to provide her potential child with the best start in life? I see such testing, and termination in the worst case scenario as just that.