Test could cut number of children with Down Syndrome

Blood test could identify genetic Syndrome in fetuses at 11 or 12 weeks with 100% accuracy; may overcome Halachic problems with abortions.

March 27, 2011 02:44
3 minute read.
Women hoping to conceive through in vetro fertiliz

pregnant woman 58. (photo credit: Ariel Jerozolimski)


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A new, easy test of a pregnant woman’s blood to identify the genetic Down Syndrome in fetuses at 11 or 12 weeks with 100 percent accuracy could significantly reduce the number of mentally disabled children born in Israel, according to Dr. Ariel Tenenbaum, head of the Down Syndrome Center at Hadassah University Medical Center on Jerusalem’s Mount Scopus.

Tenenbaum, who is proud of the “one-shop” medical facility that offers all services for such children including medical, psychological, genetic, dietary, communications, x-rays and scanning, says that many Israeli parents – both Jews and Arabs, observant and secular – will continue to decline to abort such a fetus because for religious or other reasons.

But there will be some who regard the 11th week after conception as early enough according to Halacha to perform such abortion, he said Thursday.

The availability of such a test was announced by Cyprus-based researchers three weeks ago.

Tenenbaum was the main host at the fifth World Down Syndrome conference held in Hadassah Mount Scopus. It was a joint effort not only of the Hadassah center but also of Shalva, the Jerusalem Municipality, the Welfare and Social Services Ministry, the Shalem Foundation, the Hebrew University and Yated, all of whom devote efforts to improving the life, treatment and integration of Down syndrome children and adults.

The Hadassah physician noted that about 150 Down syndrome babies are born in Israel annually, many of them to haredi and national- religious Jews and to Muslims.

As religious Jews and Muslim Arabs tend to have large families, with many of their women giving birth at relatively later ages, Down syndrome births in these communities have offset the decline in such births among secular families, and the annual number has remained stable for some time.

The new blood test, revealed in a report in Nature Medicine by lead author Dr. Philippos Patsalis of the Cyprus Institute of Neurology and Genetics, showed 100 percent sensitivity and 100% specificity in all Down syndrome pregnancies, as well as all those with normal 21st-chromosome fetuses.

The blood test was examined in 14 women with proven Down syndrome fetuses and 26 women with normal fetuses. Three chromosomes, instead of the normal two, is a sign of trisomy- 21 that causes the genetic-based mental disability.

The test is not available yet; it has to be tested in more women, approved by the authorities and produced on a commercial basis; but it will likely become a highly popular, if not standard, test.

As of now, women who want to know if they have a Down fetus must undergoing invasive tests (amniocentesis or chorionic villus sampling, which can raise the risk of miscarriage and other complications) or get less accurate results by having conventional blood test screenings, which most Israeli women undergo.

One foreign company said it could launch the new test in about 12 months.

Despite the challenge of raising a Down syndrome child, numerous Israeli parents do so with much love and devotion and regard them as perfect, wonderful souls with much potential.

There is a wide spectrum of disability among such children, with one of the speakers at the conference saying there is one abroad with a master’s degree in early childhood education.

Some Down children grow up to have close and even sexual relationships, and some have married, although they avoid getting pregnant.

A full Health Page feature on the Hadassah conference on Down syndrome will appear on Sunday, April 10.

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