Ensuring your baby’s health with genetic testing

By Kristi Krueger – Anchor/Health Reporter

About 500,000 South Floridians run risk of having baby with severe genetic disorder

MIAMI – An estimated 500,000 South Floridians run the risk of having a baby with severe genetic disorders. However, knowing their risk factors in advance can play a major role in family planning.

“Looking back, it was one of the hardest things I had to do,” said Shari Debowsky, who underwent genetic testing.

Debowsky is the proud mother of two healthy children, but there was a third. Several weeks into her first pregnancy, doctors discovered her baby had a fatal genetic defect.

“Because I had to terminate that pregnancy, everything I do now is based on what happened there,” said Debowsky.

Debowsky devotes much of her time to the Victor Center at Miami Children’s Hospital, which is dedicated to the prevention of Jewish diseases.

One in four people of Ashkenazi Jewish descent have a 25 percent chance of carrying one of 19 recognized gene mutations.

“Which means one four people are walking around with one of these genes but they don’t know it because they’re asymptotic, and they would only know if they’re tested for it,” said Dr. Parul Jayakar, a Miami Children’s Hospital geneticist.

According to Jayakar, the risk of having a child born with defects from the gene mutations is 25 percent with each pregnancy.

“Generally these kids are born normally, then they have seizures, developmental delays, vision problems, can’t walk and then death,” said Jayakar.

Shari and her husband are both carriers for a deadly genetic condition called Tay-Sachs. An amniocentesis revealed her first baby had been infected and would have eventually died. Tests on her second and third pregnancies showed that while the babies were also carriers of Tay-Sachs, they were not affected by the mutation.

“It’s wonderful, I have two healthy children, ages 4 and 2, and it’s amazing,” said Shari.

Genetic testing is encouraged if either one, or both potential parents are of Ashkenazi Jewish descent — those whose ancestors are from central Eastern Europe.