Genetic Screening During Pregnancy

In the January 6, 2015, Wall Street Journal article “New Genetic Tests for Women Who Are Expecting:
A Growing Array of Tests to Check If Women Are Carriers for Mostly Rare Diseases” by Bonnie Rochman the subject of genetic testing for carriers of diseases is discussed.

This genetic screening is different than the genome sequencing I discussed in my post “Genome Sequencing and THE MOTHER SIEGE” in which I talked about screening for potential medical issues that might — or might not — arise and the impact that this possible knowledge can have.

The genetic screening now becoming increasingly available tests for carriers where the mother, or the mother and father combined, can definitely pass on a disease to a child.

The Journal article explains:

Such genetic testing, called carrier screening, has long been targeted mainly at people of certain ethnic groups such as Ashkenazi Jews, who are at higher risk for some conditions such as Tay-Sachs disease. Now, companies that offer carrier screening are promoting the idea that testing everyone for many diseases is a more effective way to reduce the number of babies born with serious disorders, including cystic fibrosis, a life-limiting lung condition, and Canavan disease, a fatal neurological disorder.

This Journal article mentions one of these diseases as Fragile X, a disease I wrote about in my dystopian story THE MOTHER SIEGE in order to help spread information about the disease. I wrote about Fragile X in part because of one family I know whose first child was born with Fragile X. These parents chose for their second child PGD — preimplantation genetic diagnosis — which tests individual embryos during in vitro procedures and only implants healthy embryos.

As the article explains:

Most carrier screening is performed on pregnant women or in infertility clinics. Testing companies are trying to encourage people to get screened before getting pregnant. A spokeswoman for America’s Health Insurance Plans, a trade association representing health insurers, said women who plan to get pregnant typically are covered for carrier screening.

If testing is done after conception, the parents may face a painful decision whether to abort or continue the pregnancy.

Many years ago I was a reporter and editor at the Jewish Exponent, a weekly newspaper in Philadelphia, when the first screening tests were done for Ashkenazi Jews (those whose ancestors come from Western and Eastern Europe including Russia) to find carriers for the fatal disease Tay-Sachs. The Jewish Exponent carried stories about this incredible new ability to test parents before conception.

Over the years I knew that genetic screening for Ashkenazi Jews has expanded to cover more diseases, although I was surprised by this paragraph in the Journal story as to just how many are now being screened:

Ashkenazi Jews … have long been tested for about 20 genetic disorders including Tay-Sachs disease, Canavan disease and familial dysautonomia, a neurological condition. New York’s Mount Sinai Medical Center recently expanded its screening for this group to include 38 possible diseases, after the hospital’s genetic testing laboratory found these patients are at increased risk of being a carrier for a wider range of genetic conditions than previously thought.

Regardless of ancestry, women planning to conceive should consider genetic screening. While THE MOTHER SIEGE talks about genetic screening as perhaps having gone too far by the year 2049, I do believe that it is a very important option for prospective parents today.

If you want to read THE MOTHER SIEGE for free on Wattpad, click here. And if you want to read an update on THE MOTHER SIEGE including my plans for a TV drama series, click here.

Phyllis Zimbler Miller (@ZimblerMiller) is the author of fiction and nonfiction books/ebooks, including TOP TIPS FOR HOW TO PUBLISH AND MARKET YOUR BOOK IN THE AGE OF AMAZON and the romantic suspense spy thriller CIA FALL GUY, as well as newly written books not yet published. She can be reached at pzmiller@gmail.com

In the January 6, 2015, Wall Street Journal article “New Genetic Tests for Women Who Are Expecting: A Growing Array of Tests to Check If Women Are Carriers for Mostly Rare Diseases” by Bonnie Rochman the subject of genetic testing for carriers of diseases is discussed.

In the January 6, 2015, Wall Street Journal article “New Genetic Tests for Women Who Are Expecting:
A Growing Array of Tests to Check If Women Are Carriers for Mostly Rare Diseases” by Bonnie Rochman the subject of genetic testing for carriers of diseases is discussed.