Proactive genetic screening can make all the difference for family planning

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Family planning for some means genetic testing as well (KTRK)

Family planning can be an exciting time for couples. However, for those with certain types of cancer or genetic disease that run in their families, the fear of passing along a mutation to their children is a stark reality. But there are now ways we can be proactive with our health and the health of our children.
A genetic disease can be hereditary or caused by new mutations.

"Typically, we think of a genetic disease as one at which a child is affected because they inherit genes from both mother and father," says Dr. Craig Witz, a Partner and Director of Clinical Research at Houston Fertility Institute.

However Dr. Witz says often times, the parents are carriers but aren't affected. So, he says when we decide to plan our family, we should ask for a pre-natal screening.

"The most common thing we test for is sickle cell disease, spinal muscles atrophy, cystic fibrosis, and a disease called thalassemia," he explains.

If cancers like breast, ovarian, prostate or colorectal cancer run in your family, "We can test for a gene that cause cancer in themselves or a child," says Dr. Witz.

In a situation where a patient and his or her spouse are both carriers for a genetic disease, Dr. Witz would recommend in vitro fertilization with something called pre-implantation genetic diagnosis, or PGD, to prevent passing along a disease.

"We do the biopsy of the placental cells, and we're testing the embryo to see if the embryo is a carrier, which would be unaffected, just like both of the parents, or the embryo is not a carrier, or another case where the embryo will express the disease," explains Dr. Witz.

Then, there are patients who want to conceive in their late thirties, get pregnant and have multiple miscarriages, or are like Jennifer Schuett. She found out in her mid-20s she would not be able to conceive naturally and would have to go through in vitro fertilization.

"Our first round of in vitro, we got eight fertilized embryos. We put in two, and neither one of those took. Then, we put in two more, and I got pregnant with my daughter, Jenna," says Schuett.

Then, she had two more failed transfers, so dr. Witz urged her to consider PGS.

PGS is Pre-Implantation Genetic Screening.

"We take several cells - somewhere between four and six cells - from the placental cells, and we freeze the embryo. And the placental cells are then tested to confirm that they have two copies of each chromosome," Dr. Witz adds.

The results of the PGS was shocking for Schuett and her husband.

"Out of those eight embryos, six of them had abnormalities. We were left with two normal boy embryos, we implanted one and got pregnant with our son, Jonah," says Schuett.

And after going through so much, she couldn't be more grateful.

"When they say they turn couples into families, they really mean it," she adds.

Some insurance companies cover genetic screening on adults, so you'd have to check with your insurance company. Testing on embryos usually costs about $5,000.
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