Lying in the darkened doctor's office, Kate Hoffman stared at theimage of the 11-week-old fetus inside her on the ultrasound screen, atiny ghost with a big head. It would have been so sweet, Ms. Hoffmansaid, if something had not been so clearly wrong.
Ms. Hoffman's first three children had been healthy, and she wassure this one would be, too. She was not planning to have theamniocentesis procedure often used to test for fetal health problems,preferring to avoid even the slightest risk that the insertion of aneedle into her uterus would cause her to miscarry.
But when her doctor told her there was a new way to assess thechance of certain abnormalities with no risk of miscarriage - a bloodtest and special sonogram - she happily made an appointment.
The result, signaling that the child had a high chance of havingDown syndrome, thrust Ms. Hoffman and her husband into a growinggroup of prospective parents who have learned far more about thehealth of their fetus than was possible even three years ago.
Fetal genetic tests are now routinely used to diagnose diseases aswell known as cystic fibrosis and as obscure as fragile X, a form ofmental retardation. High-resolution sonograms can detectlife-threatening defects like brain cysts as well as treatableconditions like a small hole in the heart or a cleft palate soonerand more reliably than previous generations of the technology. Andthe risk of Down syndrome, one of the most common birth defects, canbe assessed in the first trimester rather than waiting for asecond-trimester blood test or amniocentesis.
Most couples say they are both profoundly grateful for the newinformation and hugely burdened by the choices it forces them tomake. The availability of tests earlier in pregnancy mean that ifthey opt for an abortion it can be safer and less public.
But first they must decide: What defect, if any, is reason enoughto end a pregnancy that was very much wanted? Shortened limbs thatcould be partly treated with growth hormones? What about a lifeexpectancy of only a few months? What about 30 years? Or a 20 percentchance of mental retardation?
Striving to be neutral, doctors and genetic counselors floodpatients with scientific data, leaving them alone for the hardconversations about the ethics of abortion, and how having a childwith a particular disease or disability would affect them and theirfamilies. There are few traditions to turn to, and rarely anyonearound who has confronted a similar dilemma.
Against the backdrop of a bitter national divide on abortion,couples are devising their own very private scales for weighingwhether to continue their pregnancies. Often, political or religiousbeliefs end up being put aside, trumped by personal feelings. Andeven many of those who have no doubts about their decision toterminate say the grief is lasting.
"It was never even anything I had considered until I had the badresults," said Ms. Hoffman, who ended her pregnancy last year after afollowup test confirmed that her child, if it survived, would haveDown syndrome. "It was the hardest decision I ever had to make."
She and her husband, Drew, of Marblehead, Mass., decided that thequality of the child's life, and that of the rest of their family,would be too severely compromised. "I don't look at it as though Ihad an abortion, even though that is technically what it is," sheadded. "There's a difference. I wanted this baby."
Whatever they choose, couples find themselves exposed to judgmentsfrom all sides. Several of those interviewed asked that personaldetails be withheld because they had let friends and family believethat their abortion was a miscarriage. Others say they have beensurprised that even conservative parents, who never faced suchdecisions themselves, have counseled them to abort rather than facetoo hard a life.
Activists for the rights of the disabled say that a kind ofgrass-roots eugenics is evolving that will ultimately lead to greaterintolerance of disabilities and less money for cures or treatments.And even some doctors who perform abortions are uncomfortable as somepatients choose to quietly abort fetuses with relatively minordefects.
No one tracks the number of abortions performed for medicalreasons, but obstetricians say several factors are most likelycontributing to a growth in their frequency, including broaderavailability of new screening technologies and more pregnancies amongwomen over 35, who are at greater risk of carrying a fetus withchromosomal abnormalities.
About a dozen tests for genetic mutations that could causediseases or disabilities in a child are now regularly offered topregnant women and their partners, depending on their ethnicity andconditions that run in their families.
More than 450 conditions, including deafness, dwarfism and skindisease, can be diagnosed by testing fetal cells, with more than 100tests added in the last year alone. African-Americans are widelyscreened for sickle-cell anemia, and a panel that now includes ninetests for diseases common to Ashkenazi Jews has virtually eliminatedthe birth of children in the United States with Tay-Sachs, a fatalearly childhood genetic disorder.
Next month, the Baylor College of Medicine plans to introduce apilot program with perhaps the largest panel of prenatal tests everoffered. For $2,000, a pregnant woman will be able to have her fetustested for some 50 conditions that cause mental retardation.
Quest Diagnostics, a leading provider of medical tests, saidprenatal and genetic mutation tests were one of the fastest-growingparts of its business.
"People are going to the doctor and saying, `I don't want to havea handicapped child, what can you do for me?' " said Charles Strom,medical director of Quest's genetic testing center.
The new screening tests provide reassuring news for the vastmajority of pregnant women. But Amy D., a preschool teacher inLivingston, N.J., who terminated a pregnancy after finding out thechild would have cystic fibrosis, remembers falling to her knees inthe schoolyard when her genetic counselor called her with the testresults.
She and her husband did not know what cystic fibrosis was and hadno known family history of the disease, which causes progressive lungfailure and carries an average life expectancy of 35 years. But inthe fall of 2001, the American College of Obstetricians andGynecologists recommended that a blood test for the gene mutationsthat cause the disease be offered in all pregnancies when either theman or woman is Caucasian.
Amy D. screened positive as a carrier in August 2002, shortlyafter she found out she was pregnant with her first child. When herhusband also turned out to be a carrier, there was a one-in-fourchance that their fetus would have the disease. An amniocentesisshowed that it would. Having watched her husband shrink from scenesof suffering, whether in movies or during his own father's illness,she said she knew her marriage would not survive having a severelyill child. "My life would have been caring for my child, which wouldhave been fine if she would be O.K.," said Amy D., who asked that herlast name be withheld for fear that anti-abortion activists wouldharass her. "But she wasn't going to be O.K."
After months of depression, she said she is thrilled to beadopting an infant boy from Asia. Still, when she watches the20-something woman with cystic fibrosis on MTV's "Real World" datingand getting body piercings, Amy D. says she cannot help wondering ifher daughter, who would have been named Sydney Frances, would havebeen like that - at least for a while.
With the number of American couples being tested to determine ifthey carry cystic fibrosis soaring from a few thousand in 2000 toseveral hundred thousand last year, more people are tackling similardecisions. Sometimes, the gene tests can even distinguish between amutation that causes a mild form of cystic fibrosis and one that ismore severe.
When Dr. Janel Crawford, a gynecologist in El Dorado Hills,Calif., learned that her second child, Hannah, would probably have amoderate case of the disease, she and her husband decided they couldnot terminate the pregnancy. "All the information starts to makethings so complex," said Dr. Crawford, who said she had her first bigscare when 10-month-old Hannah recently had a cold. "I almost wantedto go to the other extreme and stick my head in the sand like anostrich and not know."
Kaiser Permanente, a large managed health care organization, saidthat when both members of a couple among its northern Californiapatients tested positive, 80 percent opted for the follow-up test oftheir fetus. Of those whose fetus was affected, 95 percent terminatedthe pregnancy.
"It's a crummy disease, the treatments are far from what we wouldlike, and we have a reliable test," said Dr. David R. Witt, directorof Kaiser's northern California prenatal screening program. "Based onthe response, people are grateful they had an opportunity to takeadvantage of it."
The wider range and earlier timing of prenatal tests are raisingconcern among some bioethicists and advocates for disability rightswho argue that the medical establishment is sending a message topatients that the goal is to guard against the birth of children withdisabilities.
"By putting them out there as something everyone must do, theprofession communicates that these are conditions that everyone mustavoid," said Adrienne Asch, a bioethicist at Wellesley College. "Andthe earlier you can get it done the more you can get away withbecause you never have to tell anybody."
Some doctors, too, say they are troubled by what sometimes seemslike a slippery slope from prenatal science to eugenics. The problem,though, is where to draw the line.
Dr. Jonathan Lanzkowsky, an obstetrician affiliated with MountSinai Hospital in Manhattan, described one woman who had been bornwith an extra finger, which was surgically removed when she was achild. Her children have a 50-50 chance of inheriting the condition,but she is determined not to let that happen. Detecting the extradigit through early ultrasounds, she has terminated two pregnanciesso far, despite doctors' efforts to persuade her to do otherwise, Dr.Lanzkowsky said.
Other doctors said that they had seen couples terminatepregnancies for poor vision, whose effect they had witnessed on afamily member, or a cleft palate, which they worried would affect thequality of their child's life.
In an extreme case, Dr. Mark Engelbert, anobstetrician/gynecologist on the Upper East Side of Manhattan, saidhe had performed an abortion for a woman who had three girls andwanted a boy.
"She was much more comfortable with it than I was," Dr. Engelbertsaid. "I told her if it was a new patient I wouldn't have done it.But my feeling as a physician was that I've accepted theresponsibility of being her health care provider. She's not doinganything illegal, and it's not for me to decide."
Perhaps the hardest cases for both doctors and patients come whentechnology provides enough information to raise concerns about thehealth of a fetus but not enough to make a conclusive diagnosis. WhenTom Horan and his wife learned in April that their fetus's legs werebowed and shortened, they were told that the condition could behealed through braces, growth hormones and surgical procedures inchildhood.
But before they decided what to do, a closer examination by aspecialist with a 3-D ultrasound machine revealed other deformities:the left arm was missing below the elbow, and the right hand was onlypartially developed. Moreover, sometimes such features are a sign ofa neurological impairment, the doctors told them, but in this case itwas impossible to tell.
"Our main concern was the quality of life that the child wouldhave growing up with such extensive limb deformities, even in theabsence of cognitive problems," Mr. Horan said. He and his wife, whohave three other children, were reared Roman Catholic and had neverconsidered terminating a pregnancy. Yet even his father, Mr. Horansaid, who had long been opposed to abortion, supported their decisionto end the pregnancy.
"Confronted with this question and knowing what we knew, itchanged his mind," Mr. Horan said. "It's not just a question of rightand wrong; it introduces all sorts of other questions that one has toconsider, whether it is the survivability of the child, quality oflife of parents, quality of life of siblings, social needs. And itbecomes much more real when you're confronted with an actualsituation."
After the termination, an examination showed that if he survived,Mr. Horan's son would have had an extremely rare condition, Corneliade Lange Syndrome. He would have been severely mentally andphysically disabled.
The news was a relief to Mr. Horan, who said he felt sadness andgrief, but no regrets about the decision. But before the diagnosis,he said, he felt guilt and uncertainty. At 21 weeks, the fetus wasnot viable when his wife underwent induced labor and delivery butsurvived briefly.
"Our son lived for three hours, and I spent almost all that timeholding him," Mr. Horan said. "I worried that I had decided to robhim of his life simply based on limb deformities. I wondered aboutthe ethical implications of taking a life simply on that basis. Whatdid that say about me?"
That is just one of many questions that couples ask themselves asthey confront the ethics of whether to abort a fetus withdisabilities. But because it is such a charged subject, many areloath to discuss it with others. They say there is often no outletfor their grief.
"I cannot turn on the computer any day without getting an e-mailfrom someone who needs help," said the woman who runs A HeartbreakingChoice, an Internet support group for people who have terminatedpregnancies because of their fetus's health. "But nobody's talkingabout it. Certainly not here in southeastern Virginia," whereanti-abortion groups are so vocal.
A nurse practitioner in New Jersey said her parents, in-laws andbest friends all believed she had a miscarriage. In reality, afterhaving an amniocentesis because she was 39, she discovered that themale fetus had two X chromosomes in addition to a Y chromosome. Menwith the condition, Kleinfelter's Syndrome, have little body hair andfeminine features. Some lead normal lives, but others have learningdifficulties and virtually all are sterile.
"We didn't want to put ourselves in the position to be judged,because it was difficult enough as it was," she said, though she saidshe wished she had told her family about the diagnosis. "I wasthinking about Kleinfelter's constantly, but I couldn't mention it toanyone."
Dr. John Larsen, chairman of the department of obstetrics andgynecology at George Washington University Medical Center, said thesense of taboo is amplified by how often people's choices contradicttheir previously held beliefs.
"People will come into my office in tears and say they've beenagainst abortion their whole lives," he said, "but they'll make anexception for themselves."
Parents of children with Down syndrome, Dr. Larsen said, also cometo him for a test called chorionic villus sampling, or C.V.S. Similarto an amniocentesis, the procedure is less widely used because itcarries a slightly higher risk of miscarriage, but it can beperformed as early as 9 weeks - for many women, well before theirpregnancies are apparent.
"They want it kept a secret," Dr. Larsen added. "They don't wanttheir friends in the Down Syndrome Society to know that they gottested and would abort or did abort if it was positive. They'll say,`I love my child with special needs, but I can't handle two.' "
Some parents are trying to avoid both abortion and disease byopting for in-vitro fertilization, even if they do not need it toconceive. A new procedure can test embryos in the petri dish forchromosomal abnormalities or a genetic condition known to run in afamily.
That is how Sara and Benjamin Porush of Chicago came to have their21-month-old triplets. After their first son was born with familialdysautonomia, which causes difficulty breathing and swallowing and ashortened life, the couple, who are Orthodox Jews, had 16 embryostested for the disease, 9 of which had the gene mutations for it. Ms.Porush was implanted with three of the others.
But some couples who terminate pregnancies for fetal healthconditions say no one has a right to judge them. A child psychologistin Atlanta who terminated a Down syndrome fetus earlier this yearsaid she was outraged by people who told her, "If you have to have aperfect baby, you shouldn't be a parent."
"I was like, `What!?' " said the psychologist, who is 35. "I'vealways been pro-choice, but now I'm pro-choice with a vengeance.Don't tell me I have to have a baby with Down syndrome just becauseyou say so."
And Cristy Hollin of Gladwyne, Pa., is unapologetic about havinginvasive procedures to test fetal cells early in the two pregnanciesthat followed the diagnosis of her first son's condition as fragile Xmental retardation. Neither fetus tested positive for the condition,but if they had, she said, she and her husband had planned to have anabortion.
"You love your child," said Ms. Hollin, who was told that the bestshe could ever hope for her fragile X son, who is now 11, was that hecould one day read well enough to take a bus on his own. "But thefact is it's really, really hard. When we went to have our other kidswe said we'd be fools not to know everything we can."
Doctors and genetic counselors say the new reproductive decisionshinge on a complex equation that includes patients' perception ofdisabilities, their financial situation, their ethical beliefs andtheir desire for a baby.
A ecent study of the first-trimester screen for Down syndromefound that only 6 percent of women in Utah who tested positive for ahigh risk of having a fetus with the condition went on to find outdefinitively with an amniocentesis, said Dr. Mary D'Alton, chairwomanof obstetrics and gynecology at Columbia University Medical Center,who led the study. By contrast, at Mount Sinai in Manhattan, morethan 90 percent chose to have the follow-up test.
Age can also play a role. A 44-year-old woman with her firstpregnancy may look differently at an imperfection than a 23-year-oldwho has two children, said Dr. Ilan E. Timor, director of theultrasound division of the obstetrics/gynecology department at NewYork University Hospital.
"I have seen patients with relatively minor anomalies as far asI'm concerned who don't care and terminate the pregnancy," Dr. Timorsaid. "Then you see the other end of it, patients that have prettymajor anomalies and don't want to terminate. Every patient has adilemma that is measured by personal needs."
When Dondakay DeMaria, 27, and her husband Andrew, of Campbell,Calif., who work at the same Silicon Valley technology company, bothtested positive as cystic fibrosis carriers, Ms. DeMaria was sure shewanted to have an amniocentesis, and perhaps terminate the pregnancy.But after much soul-searching, the couple, who describe themselves aspro-choice, decided not to take the risk of miscarrying in order tofind out the status of their fetus.
"There's a lot of kids born into the world that have severeproblems and that doesn't stop them from having a life or having alot of love to give," said Mr. DeMaria, citing his adult cousin withDown syndrome as an example. "If my aunt and uncle would haveterminated that pregnancy we would never have known Suzi."
Some critics of the new culture of prenatal testing argue that itis causing needless anxiety for the vast majority of couples whosebabies will be perfectly healthy. But some women say the new testsactually make them less anxious. Ms. Hoffman, who terminated herpregnancy last year after the first-trimester screening test alertedher to the risk of Down syndrome, is now pregnant again. She was sureshe would have an amniocentesis this time, despite her fears ofmiscarriage. But when she went for her screening the doctor said herrisk of an abnormality had fallen from one in 43 to one in 351, oddsthat were good enough for her.
"It took me a long time before I was ready to risk gettingpregnant again," Ms. Hoffman said. "And that time period couldn'thave gone fast enough before I could have my test."
Copyright 2004 The New York Times