
DATE: Sunday, November 23, 1997             TAG: 9711230027

SECTION: FRONT                   PAGE: A1   EDITION: FINAL 

SOURCE: BY MARIE JOYCE, STAFF WRITER 

DATELINE: NORFOLK                           LENGTH:  126 lines

THE JONES INSTITUTE SUCCESS TAKES ROOT IN GENETIC SCREENING A NEWBORN GIVES COUPLES HOPE IN TESTING EMBRYOS FOR DEFECTS

Almost four years after a celebrated victory against the genetic killer Tay-Sachs, the Jones In stitute for Reproductive Medicine seems finally to be achieving the potential of its program to screen embryos for genetic defects before pregnancy.

The institute, part of Eastern Virginia Medical School, gained international fame in 1994 with the birth of Brittany Abshire. Scientists used a new process to screen embryos, picking those free of the inherited disease to implant in Brittany's mother's uterus.

Doctors hoped to use the method to help many couples carrying a variety of serious genetic problems. But until now, the screening program, known as pre-implantation genetic diagnosis, was unable to help another couple deliver a child.

This week, however, the Jones Institute has plenty to celebrate: one birth, and one, possibly two, pregnancies.

A California couple on Nov. 5 gave birth to a healthy daughter free of Tay-Sachs, a progressive condition that destroys the brain and usually kills its victims by age 4. Doctors confirmed the pregnancy earlier this year.

A Hampton Roads couple are expecting twins free of cystic fibrosis - an incurable, inherited disorder whose victims live an average of 30 years.

A North Carolina couple will have a pregnancy test in the next few weeks to find out if they are expecting a child, who would be free of cystic fibrosis.

None of the three couples would allow their names to be released for this story.

The institute also is about ready to begin a long-awaited screening program for Down syndrome and two other disorders caused by an extra chromosome, said Dr. William E. Gibbons, chairman of reproductive endocrinology and infertility. People with Down syndrome may live close to a normal life span, although they suffer mental retardation and typically some physical problems.

Gibbons has said before that he was disappointed by the long wait for a another baby to follow Brittany, but he attributes it to lack of demand for the service and to the overall fertility of the patients who have sought it, not to problems with the science.

``There just aren't a lot of these patients around,'' he said.

Demand for the program will grow, he believes, as science increases the number of conditions, such as Down syndrome, that can be screened for.

The genetic screening is done as part of an established fertility method called in-vitro fertilization.

The woman is given medicine to stimulate her ovaries to produce eggs. The eggs are harvested and combined with the father's sperm in the laboratory. After the resulting embryos grow to about eight cells, a single cell is removed from each and tested for the genetic trait that causes the disease.

Embryos that don't have the genetic trait are implanted in the mother's uterus. There is no guarantee that the implantation will result in a pregnancy.

Only about a half-dozen clinics around the country use the pre-implantation genetic diagnosis, and practitioners acknowledge that it is not a high-demand service, and is still somewhat experimental.

``I don't think (this) is something that's going to take off,'' said Dr. Jamie Grifo, a pioneer of the procedure. ``There's not that many patients who need this stuff.''

Grifo, director of reproductive endocrinology at New York University, said the NYU program doesn't charge for the genetic screening portion of the procedure because it is still so new, although it does charge for the egg harvesting, fertilization and implantation.

Yet even when the Jones Institute offered the program for free, it didn't have hordes of participants.

For many couples carrying a genetic defect, there is a much cheaper and less elaborate option: starting a pregnancy, then aborting if it becomes clear that the fetus has been affected.

The screening procedure is expensive - about $2,000 on top of the $7,000 or so for harvesting, fertilizing and implanting, at Jones.

Some patients choose pre-implantation diagnosis because they oppose abortion. Yet it is not acceptable to all abortion opponents, because affected embryos are discarded.

But may of the people who go through these programs do so for a more personal reason - they have a child or other family member with the disease, and they cannot bear the thought of starting another pregnancy and waiting to hear bad news, said Gibbons.

The California couple who just delivered a girl have lost a child to Tay-Sachs. The local couple expecting twins lost a child to cystic fibrosis, and the North Carolina couple have a child afflicted with the disease.

For those families, ``this issue is a very concrete issue,'' said Gibbons. ``They . . . had a clear picture of this disease.''

Since Brittany Abshire's birth in January 1994, about a dozen couples have gone through the Jones Institute pre-implantation genetic diagnosis program. In addition to the Abshire family and the recent successful pregnancies, one woman became pregnant but miscarried, said Gibbons.

Because the number of participants in the Norfolk program is so small, and the procedure is less than 10 years old, it's hard to evaluate success rates.

Worldwide, Grifo said, only about 100 children have been born as the result of pre-implantation genetic diagnosis.

Grifo, whose program is older and larger, said 17 babies have been delivered since 1992, out of about 30 patients. But many of those women went through several rounds of egg harvesting, screening and implantation before getting pregnant, he said.

In Norfolk, until recently, every woman who had gone through the pre-implantation genetic diagnosis program faced conditions that interfered with her fertility. All were either in their late 30s or older - when fertility has declined significantly - or had other medical conditions that made the likelihood of success low, said Gibbons.

The California woman who recently gave birth and the Hampton Roads woman who is pregnant are under age 35, he said. ILLUSTRATION: Graphic

Color photo

OLD SUCCESS, NEW SUCCESSES

Nearly four years ago, Brittany Abshire, right, was born free of

the deadly genetic disease Tay-Sachs after Jones Institute

scientists used a new process to screen embryos.

On Nov. 5 a couple gave birth to a girl free of Tay-Sachs.

A Hampton Roads couple are expecting twins free of cystic

fibrosis.

A couple will have a pregnancy test soon to find out if they are

expecting a child, who would be free of cystic fibrosis.

The institute is nearly ready to begin a screening program for