Spokane7
59°
February 25, 2012 in Nation/World
Identifying birth defects early creates new questions
Blood test finds genetic details of fetus weeks into pregnancy
SAN JOSE, Calif. – Raising the prospect of a world without birth defects, a Stanford University-created blood test that can detect Down syndrome and two other major genetic defects very early in a woman’s pregnancy will be available next week.
The simple blood test spares women the risk and heartache of later and more invasive tests like amniocentesis.
But it has startling social implications – heralding a not-distant future when many fetal traits, from deadly disease to hair color, are known promptly after conception, when abortion is safer and simpler.
The $1,200 test, which analyzes fetal DNA in a mother who is 10 weeks pregnant, is being offered to doctors Thursday by Verinata Health, a biotechnology company in Redwood City, Calif. It licensed a technique designed by Stanford biophysicist Stephen Quake.
“It’s a game changer,” said Stanford University law professor Hank Greely, who studies the legal and ethical implications of emerging technologies. The controversy over abortion “is about to be hit by a tsunami of new science.”
There are two converging trends, Greely said. “We’ve got politicians running for president who are really trying to whack away at reproductive rights at a time when the science is about to vastly expand the information that parents have about their fetus.”
A similar test is already available from the San Diego company Sequenom, and at least two other San Francisco Bay Area companies plan to offer noninvasive prenatal genetic testing.
The market is huge: 4.5 million U.S. births a year, of which an estimated 750,000 are “high-risk” due to age or family history.
The current crop of tests only seeks major abnormalities on three chromosomes: 13, 18 and 21. They can also tell whether a fetus is a boy or girl.
But perhaps within the next five years “it seems likely that a simple blood draw from the pregnant woman will be able to provide genetic results for a fetus about not just Down syndrome, but cystic fibrosis, sickle cell anemia, Tay-Sachs disease and a host of other diseases,” Greely said.
“I don’t think many parents would abort a fetus because it is blond or because it doesn’t have the best genes to be an athlete,” Greely said. “But I do think it will greatly increase the number of fetuses aborted for mainly medical reasons and sometimes for nonmedical reasons, like sex, because it is so much easier to find out. And you find out faster.
“You can make the decision before anyone else really knows you are pregnant – and when abortions are less complicated, medically and socially.”
The test’s effectiveness was reported Thursday in the long-awaited findings of a Verinata-sponsored clinical trial published in the journal of the American Congress of Obstetrics and Gynecology.
For women with insurance coverage, Verinata said it would provide documentation to support a claim. But in cases where the claim is denied or a woman is uninsured, it will negotiate a discount, it said.
It accurately detected all 89 cases of Down syndrome in 532 maternal blood samples. It also detected 35 of 36 cases of Edwards syndrome and 11 of 14 cases of Patau syndrome – two far more devastating chromosomal abnormalities.
The disease occurrence was high because women were selected for the research trial if they were considered high-risk due to advanced age, if their fetus tested positive through conventional tests for chromosomal defects, or if they previously had a baby with chromosomal defects. The test predictions were compared with the actual birth outcomes.
Quake became interested in this approach in 2004 when he first became a father, “and I saw the invasive tests to my wife and unborn child. I thought, ‘There’s got to be a better way.’ ”
He happened across a 1948 discovery about free-floating fetal DNA in maternal blood – called “cell free DNA.” But scientists then could not measure the genetic material precisely enough to make a diagnosis.
The new test counts the millions of DNA molecules from both the mother and baby and can detect excessive genetic material that signals a birth defect.
Katie Fischl Fuller, of Santa Clara, whose baby is due in March, said she would have welcomed the test.
“Amniocentesis is horrible. It’s very invasive,” she said. “A needle is inserted through your stomach into the uterus, which risks injuring the baby. Risk of miscarrying is 1 in 250 or 300 … when you can feel the baby moving, and you’ve already connected.”
Members of the anti-abortion community also said they would welcome the test if it is used to give parents time to prepare for the birth of a handicapped infant.
“But if it’s a search-and-destroy mission, where the baby is aborted, we are not in favor of it,” said Cecelia Cody, administrative director of California Right to Life in Walnut Creek, Calif.
“I don’t think the world is a better place without these babies. It’s getting close to Nazi eugenics, isn’t it, to decide who lives? If a baby is shown to have a cleft palate, do they die?”
“It is difficult to know how people will act on this information,” said Michael Katz, medical director of the March of Dimes.
Although the tests “are no longer experimental … it is the future. Soon all the other tests will be secondary.”
Salmonella linked to chicken handling 
dataxman on February 25 at 5:00 a.m.
If they ever find a ‘gay’ gene you will see the fastest shift from pro-abort to pro-life in history…
Scoutster on February 25 at 6:06 a.m.
Hopefully this debate will wake up the right to recognize absurdity of their long-time position of “an unborn child is sacred but a born child is a pest”.
A day in Lakeland Village is over $500/day, paid by taxpayers.
It’s easy when all you have to do is talk about fetuses.
But when you are talking about paying people to care for other people, we are already failing.
oneanddone on February 25 at 6:07 a.m.
Ironic that articles like this always brings up Down’s. I was an elementary educator for years and every Down’s child I ever had was the sweetest in the class. Granted, they have extreme challenges but disposition and personality are not the problem it is for so many children.
BlondeSquawker on February 25 at 9:15 a.m.
oneanddone: It’s not “Down’s”, it’s “Down”. Down Syndrome.
RedCedar on February 25 at 9:46 a.m.
Eugenics returns.
misjustice on February 25 at 10:16 a.m.
This is the sort of “testing” that Sanitorium is squarely against.
If he gets to be the Preacher-In-Chief he will ban all prenatal care, testing, and services. But he’s not totally against women accessing health services.
His plan for women’s health care does involve a Department of Vaginal Management; tasked with ensuring that women are compliant, submissive, probed, and controlled.
greenlibertarian2nd on February 25 at 12:08 p.m.
Opens up a big can o’ worms, but we knew it was coming.
RedCedar on February 25 at 1:27 p.m.
A very big can of worms, gl2. A 10 week genetic test eliminates all the moral qualms that Hitler gave us about eugenics, while promising to provide all the benefits of that now-disgraced science that leading thinkers all over the world were eagerly touting prior to WWII. Perhaps we can get rid of all birth defects, assuming mothers are willing to abort defective fetuses and a very early stage, or use implants of screened embryos. However, what exactly is a birth defect? Spina bifida? Cystic fibrosis? High risk of athersclerosis? Low IQ? Short stature? Brown hair? Goofy-looking ears? A likelihood of voting for the wrong political party?
If It wouldn’t take a big leap of science fiction to see this technology, if widely accepted, splitting the human species into two new strains — the poor who reproduce at a high rate naturally and take whatever they get, and the rich who select their one optimum child as carefully as they would select a new car or a new home theater system, and ensure that it is the very best that money, through modern reproductive science, can buy. Of course we couldn’t call the offspring übermensch, but what are they?
It also opens up the prospect of liability if something goes wrong. It’s bad enough for ob/gyns today. What happens when we start getting “wrongful birth” lawsuits by people who wish they hadn’t been born, or more realistically by the government trying to recoup the long-term care cost of “defective” people who irresponsible parents failed to abort? Yes, it’s a VERY big can of worms.
earful on February 25 at 2:20 p.m.
Test is for trisomy. Abnormality, not eugenics. Root the word monster. I want to be sensitive, but when a certain pres. candidate brings home a miscarried fetus in a pickle jar and sloshes it around in front of his other children everything is fair game.
RedCedar on February 25 at 2:26 p.m.
Good point. I was getting ahead of myself. I was wondering why the test is so cheap. You can see trisomy under a microscope. Complete gene sequencing as a standard lab test may have to wait a few years. But not much more than that.
Al_Loysius on February 25 at 3:39 p.m.
Remember the anti-utopian novel Brave New World by Aldous Huxley we read in high school? Written in the 1930’s, we are getting there ever steadily.
By the way, females will be aborted more often even more than right now. The Chinese and Indian populations are getting screwed up because they abort so many girls. Instead of a 1:1 correlation, their births are running 10 boys to 8 girls. In the long term that creates some destabilizing social issues.
RedCedar on February 25 at 4:27 p.m.
There’s not much that can be done about the gender ratio without draconian government intervention. In an economically rational society, a shortage of women would make them more valuable and men would would try harder to win them as wives. In a realistic human society, some of that “trying harder” will consist of more conflicts amongst the men, more need to import prostitutes, and more likelihood that the government will go to war if only to get a lot of frustrated and potentially troublesome young men off the streets. Still, there’s little that can be done about it, and it’s a small hypothetical problem compared to real problems we need to deal with these days. I do agree that we are living in a brave new world.