England – Mom’s Blood Test Can Reveal Down Syndrome

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    England – Scientists in Europe report they were able to diagnose Down syndrome prenatally by giving a simple blood test to pregnant women, an approach that might one day help them avoid the more extensive procedure used now to detect the condition.

    The preliminary report published online Sunday in the journal Nature Medicine is the latest of several recent studies that suggest scientists can spot Down syndrome through fetal DNA that has been shed into the mother’s bloodstream.

    Down syndrome, which results in cognitive delays, is caused by having an extra copy of a particular chromosome. Currently, pregnant women get blood tests and ultrasound to find out if the fetus is at risk for Down syndrome. For a firm diagnosis, doctors take a sample of amniotic fluid or the placenta.

    Those sampling procedures involve a small risk of miscarriage. A reliable diagnostic blood test also could give an answer earlier than the standard tests.

    Several research teams have published studies suggesting that analyzing the mother’s blood can detect Down syndrome in a fetus. There’s no commercial test available yet, but at least one company hopes to introduce one in the U.S. within about a year.

    In the latest report, scientists in Cyprus, Greece and England said that in a blind test, they correctly identified 14 Down syndrome cases and 26 normal fetuses.

    They said a bigger study is needed to confirm the usefulness of their approach.

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    16 COMMENTS

      • Yes it is allowed. If you are positive you can be mentally prepared and discuss the matter further with a Rav and with therapists and Genetic counselors, etc….

      • amniocentesis has 99.4 – 100 % accuracy when diagnosing chromosomal anomalies. If the amnio comes back 99% chance that there are no anomalies they will rule out down syndrome. In addition to this – there is no test to determine what level of functioning any particular baby with down syndrome will have. The bottom line is, while we rely on amniocentesis as a definitive result for diagnosis, nothing is really 100% accurate, and most probably that would be the case for any blood test as well.

      • There are often additional medical complications that might require urgent surgery after a child is born. Knowing that you might need this care would allow a choice to deliver in a hospital that can provide the care that your child will need.

    1. Having a Downs syndrome child can be quite a challenge, but, also very rewarding. I don’t think halachacly one would be allowed to abort a Downs baby just because of the hardship of caring for it.There are also many people who would adopt or foster a Downs child.

      • There are indeed poskim who have allowed an abortion of a Downs fetus, but I think that the majority would disagree. Downs is very different from Tay-Sachs and other genetic diseases that result in certain death early on.

        • Before you make comments that have potentially huge consequences please check your facts. I would love for you to actually go out and find a sheyila v’tshuva sefer from a reputable posek that allows abortion based on an amneo or blood test! Please charlie come back with the name of the posek and page # of the sheyila/tshuva. I am waiting with baited breath.
          This doesn’t mean that I am unsympathetic to the plight of a couple expecting such a child. It can be extremely difficult. But such a case needs to be approached through emunah. G-d gave the couple this child because He thinks they can pass this test and gain from the experience.
          I lost a friend due to cystic fibrosis. I gained a lot from knowing and being around this person. She touched many people during her short life. I can’t imagine what would have been if her mother had chosen to abort her.

      • My baby is a baby first & foremost. He happens to have Downs syndrome. There is NO SUCH THING as a downs baby/child/adult any more than there is a diabetes womans or cancer man.

    2. My friend was tested positive during a her pregnancy. Imagine knowing all through your pregnancy that you’re carrying an abnormal child. In the end her baby was normal b’h. Can you imagine if she decided to terminate her pregnancy???? She’d never forgive herself.

      • I feel for your friend, but know that those cases of “false positive” are the exception to the rule. Most people would like to be informed, and prepared before a birth of any child with any special needs especially if it includes something such as heart defects which many times accompanies Downs. I am not a posek so I would not know if one can abort, but I assume even if there are those who would, most Orthodox do not in cases of Downs.

        Charliehall – just to clarify, Downs is not a genetic disorder such as tay-sachs, it is a chromosomal anomaly.

    3. Down syndrome is a genetic disease that is usually not due to an inherited condition (as is Tay-Sachs). While the risks for having a baby with Down syndrome increase with maternal age, there are many young mothers who give birth to babies with Down syndrome.

      For responsa about even late-term abortion, see the writings of Rabbi Waldenberg, ztl, i.e. the Tzitz Eliezer. His opinion was disputed by Rabbi Moshe Feinstein ztl.

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