Roanoke Times
Copyright (c) 1995, Landmark Communications, Inc.
DATE: THURSDAY, January 27, 1994 TAG: 9401270185
SECTION: NATIONAL/INTERNATIONAL PAGE: C3 EDITION: STATE
SOURCE: Associated Press
DATELINE: NORFOLK LENGTH: Medium
Brittany Nicole Abshire was born at 8:29 a.m. at Baptist Hospital in Orange, Texas, said officials of the Jones Institute for Reproductive Medicine in Norfolk.
Brittany is the first child in the world to be successfully screened for the inherited disease before an established pregnancy, said Dr. Gary Hodgen, leader of the team that performed the procedure.
"Both mother and baby are doing very well," said Dr. William Gibbons, chairman of obstetrics and gynecology at Eastern Virginia Medical School and the parents' doctor at Jones Institute, part of the medical school.
Gibbons traveled to Texas to be present for the delivery, which had been expected in mid-February in Norfolk. Gibbons said the birth came sooner when the mother developed a gall bladder problem not unusual in pregnancies and went into early labor. The baby weighed 5 pounds, 12 ounces and was 18 inches long.
"It was pretty exciting," Gibbons said. "The baby looks great. We'll be watching her weight, but she's already had her first meal, a sugar solution."
The pre-embryo Tay-Sachs test was developed by researchers at the Jones Institute. Brittany's parents, David and Renee Abshire of DeRidder, La., both carry the gene for the disease, which is incurable and always fatal.
Tay-Sachs killed the Abshire's first daughter, Maigon Nicole, at age 3 in 1989.
The test developed at the institute is performed on an egg that has been fertilized through in-vitro fertilization. If the pre-embryo is found free of the disease, it is transferred to the woman's uterus.
Without the research, the Abshires would have had a 1-in-4 chance of having another child with Tay-Sachs.
Victims of Tay-Sachs lack an enzyme necessary to remove fatty substances from the brain. Babies become hypersensitive to sound and lose muscle control. By age 2, most are blind and paralyzed. The disease is usually fatal by age 5.
The Tay-Sachs test is a refinement of in-vitro fertilization and molecular biology. The fertilization process gives access to the pre-embryo, while advanced molecular biology permits the examination of a minute amount of genetic material.
Hodgen's team members used a glass needle one-fifth as wide as a human hair to withdraw a single microscopic cell from each fertilized egg. Then they tested its genetic structure for the presence of Tay-Sachs. Three of the "clean" eggs were implanted in the mother's uterus. One of those eggs developed into Brittany.
Gibbons said the time between the testing procedure and the girl's birth was "like waiting for the second shoe to fall."
Three groups in North America are considered high risks for Tay-Sachs: Jews whose families came from Eastern Europe, French Canadians and people living in a section of southwest Louisiana with a large Cajun community.
Both parents must carry the gene for the child to be born with Tay-Sachs.
Testing for Tay-Sachs is routine in many Jewish communities.
A screening program established in 1983 by Rabbi Josef Ekstein in New York City has prevented 67 marriages that could have produced children with the illness. Ekstein, whose program discourages dating and marriage between carriers, lost four of his 10 children to Tay-Sachs.
The technology raises hopes that parents who carry genes that cause other inherited diseases - cystic fibrosis, sickle-cell anemia and hemophilia, for example - will be able to have children without the fear that they have sentenced their baby to a life of suffering, and perhaps an early death.
John Fletcher, director of the Center for Biomedical Ethics at the University of Virginia, said the new procedure offers a positive choice for parents who carry genes that cause inherited diseases. Such parents have had to forget having children or to undergo testing during pregnancy and get an abortion "if you were unlucky," he said.
"For a couple that really wants a baby, the choice of an abortion is morally and psychologically very wrenching," he said.
But he said the technique is probably too expensive to be widely used - he estimated the cost at $10,000 to $12,000 - and it raises questions about future developments in handling defective genes.
"If you can diagnose something, the question is: Why don't you treat it?" Fletcher said. "What people are afraid of is, once you start manipulating genes in the embryo, you could move from treating the disease to affecting characteristics that don't have anything to do with the disease, like skin color, height, weight."
Helen Sonner, a medical school spokeswoman, said the procedure used in Brittany's birth would cost about $9,000, including the pre-embryo testing and the in-vitro fertilization. She said the Abshires were not charged because of the experimental nature of the work.
Memo: shorter version ran in the Metro edition.