The researchers were able to interview 65 of the at-risk couples, who had a total of 90 pregnancies. In 68 of those pregnancies, parents opted for an amniocentesis or chorionic villus sampling to test for Gaucher in their fetuses.
Sixteen of those tests were positive for the disease. In four of the cases, couples opted to terminate their pregnancies.
The researchers surmise that lack of information about Gaucher may have played a role in some of those decisions. Among 13 couples who discussed Gaucher with an expert, one had an abortion. Three couples did not discuss the disease with an expert, and all of them had abortions, according to the study.
One couple, which learned that their particular mutations could lead to one of the most severe -- and untreatable -- forms of the disease, did not get pregnant. Those types can cause death in early childhood or severe neurological degeneration, and they are no more likely among Ashkenazi Jews than members of other ethnic groups.
In an editorial accompanying the study, Dr. Ernest Beutler said the Gaucher test does little to benefit carriers or their offspring. Instead, he said, it serves mainly to enrich hospitals, testing laboratories and pharmaceutical companies.
"Children are likely to be treated when they don't really need treatment," said Beutler, who chairs the department of molecular and experimental medicine at the Scripps Research Institute in La Jolla. "You get a child that's 8 or 10 years old and has a slightly enlarged spleen and their hemoglobin is a little low. You can watch a child like that. But once the diagnosis is made, there's pressure to treat. People tend to say, 'Nothing's too good for our child.' "
Parents' choice
Just knowing that Gaucher is present can shape the lives of healthy children. "Maybe they won't be allowed to play soccer with their friends," Beutler said. "Maybe they'll wind up being checked by a doctor every two months. It can really change their life and their self-image."
Dr. Robin A. Ely, who raised three children with moderate levels of the disease, said she had counseled couples in the U.S. who were advised by their doctors to abort when genetic tests confirmed a Gaucher diagnosis.
"I tell them, 'This is your choice, but I think it's a mistake,' " said Ely, medical director of the National Gaucher Foundation based in Tucker, Ga. "It's almost Nazi-like. It's eugenics."
But what may seem like a mistake to one family may be the right choice for another.
For instance, the high cost of enzyme replacement therapy may tilt some couples toward abortion, Levy-Lahad said. Insurance plans in the United States typically cover the treatment, but patients whose policies include a lifetime cap may run into trouble.
Cost was probably not a factor for couples in the study because the treatment is covered by Israel's national health insurance.
One of the couples interviewed by researchers said they were concerned about how they would pay for treatment if they left the country. However, they elected to carry their Gaucher baby to term.
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karen.kaplan@latimes.com
