HEALTH MIXED BLESSING

Preparing for a sec-01 d child was easy for Katie and Pat Wilson of Cedar Hill, until they were told that their twelve-week-old fetus had no brain. The diagnosis came after a routine sono-gram at a Dallas hospital.

“My obstetrician told me over the phone that the fetus had no skull, no brain, the limbs were underdeveloped, but I probably would carry the baby to term, ” Katie, thirty-three, remembers. Then the doctor said the baby-if born alive-would live a few minutes or hours. He recommended abortion. Tearful discussions with family convinced the couple to wait a month before making a defcision. The second sonogram at fifteen weeks showed a skull. The Wilsons continued the pregnancy, but with no assurances that the baby would be normal.

“We really didn’t know what was going to come out, ” Katie says. Frightened and near hysteria the day of the Caesarean section delivery, Katie underwent general anesthesia. When she awoke after the birth, she asked her husband if the baby had a head, [He told her the eight-pound boy was perfect. The nightmare had ended.

Doctors Couldn’t explain why the first sonogram led to the wrong diagnosis, except to say that prenatal testing isn’t exact. Ironically, while the testing answers many questions and relieves anxiety felt by parents, it can produce stress on its own.

Sonograms, which help doctors to follow the development of the fetus, have become routine. But after their false diagnosis, the Wilsons think routine sonograms aren’t for everyone.

“Sometimes knowledge can hurt as well as help. We decided we could deal with a handicapped child if we were to have one, ” Katie says. “Thfere was no reason to have a sono-gram. unless we were going to consider other options. “

Another test, amniocentesis, involves withdrawal of amniotic fluids from the uterus for testing. The procedure, which is used routinely for women over thirty-five to detect birth defects such as Down’s syndrome, has a miscarriage rate of one in 200, because the lest can cause an infection in the uterus that leads to spontaneous abortion.

For Nelda Wren of Saginaw, north of Fort Worth, amniocentesis held little appeal. At age thirty-eight, Nelda and her husband, Worth, had battled infertility for five years, then adopted a Korean baby. Then, suddenly, Nelda was pregnant. She was given a packet of information by her obstetrician about the prenatal test and urged to think about it.

“We were so excited about the pregnancy. I decided not to have the test, ” says Nelda. “Even though the test could indicate genetic defects, we wouldn’t have considered terminating the pregnancy. ” Only toward the end of the nine months did the prenatal test seem a good idea. Nelda found herself thinking a lot about the health of the baby. “I had thoughts that I should have had the test for peace of mind, but the slight risk of miscarriage also made me play it safe. “

Amniocentesis is best performed at sixteen weeks, and by that time some women find it is difficult to face terminating the pregnancy. Test results take two to three weeks, which often means the mother has already felt slight movement by the baby.

Error rates for amniocentesis are extremely low-one in 500-so test results are presumed reliable enough to make decisions based on the data.

“Between 50 and 70 percent decide to terminate the pregnancy when a chromosome problem occurs [such as Down’s syndrome], ” says Dr. Charles Brown, assistant professor of Maternal-Fetal Medicine at the University of Texas Southwestern Medical Center in Dallas. “It’s a difficult thing to go through, even for the doctor. It’s unfair to have them [parents] make a decision [about an abortion] before the test. “

Even when amniocentesis yields positive information, there is still anxiety for some couples. “No matter how long you talk to the couple, offer genetic counseling, slide shows, prenatal tests, there is always that unknown. Until the parents see the baby and it’s all right, there is some anxiety, ” says Brown, who practices obstetrics through Parkland Memorial Hospital and sees many high-risk patients.

For Vic and Tammy Vines of Dallas, pregnancy was fraught with anxious moments. In October 1986, Tammy gave birth to a severely ill baby girl who suffered from a rare chromosome defect known as Trisomy 18. The infant lived just five days. The Vines, who have a four-year-old daughter, faced even more stress once Tammy became pregnant again after the infant’s death.

The Vines looked into a new, experimental procedure called chorionic villus sampling (CVS). The test, which requires a biopsy of tissue from the placenta, can be performed nine to eleven weeks into the pregnancy, more than a month before am-niocentesis. The test is being done with FDA approval at Fort Worth’s John Peter Smith Hospital. The problem: CVS has a miscarriage rate of about two in one hundred, higher than amniocentesis.

“I wanted the peace of mind that the chromosomes are okay, ” says Tammy Vines, a thirty-year-old former schoolteacher. “But it’s like gambling, playing the numbers game. There was a one in 8, 000 chance of having Emily [the child born with Trisomy 18]. Numbers didn’t mean anything to us. “

After several sonograms that showed normal development of the fetus, the Vines decided against both CVS and amniocen-tesis. It was a particularly difficult decision for Vic, an obstetrician completing his last months of residency at St. Paul Medical Center in Dallas.

“The sonograms relieved our stress, because every time the baby grew, and grew appropriately, ” says Dr. Vines. “We ruled out CVS when we became more concerned about losing the baby because of the procedure than we were about the chance of another defect. “

A different test with no risk to mother or baby still caused the Vines to worry until the day of the Caesarean delivery. Tammy underwent the alpha-fetoprotein test (AFP), which is becoming routine for pregnant women of any age. High or low levels of AFP can indicate that the fetus is abnormal. Some doctors strongly recommend amnio-centesis if the AFP level in the mother’s blood raises questions.

“Tammy’s AFP level was low, but in normal range. I hate that test because it is hard to judge it, ” says Vines. He and other doctors admit that AFP has a high rate of “false positives, ” which can add to the parents’ stress and lead to more prenatal tests. Doctors also say that laboratories still aren’t accustomed to the AFP test and frequently make mistakes.

So the Vines continued to have sonograms throughoul the pregnancy but turned down all other tests. They went with their instincts, believing the fetus was normal. “I felt this pregnancy was fine. I felt lots of movement by the baby, which I didn’t feel with Emily. And I gained weight, something else I didn’t do with Emily’s pregnancy, ” says Tammy.

The FDA may give final approval to CVS and several other new prenatal tests in the next few years. Dr. Carl Otto, director of the Center for Prenatal Diagnosis at John Peter Smith, predicts CVS will become widely used. “1 think any prenatal diagnosis is done to improve the quality of care. Routine ultrasound is a great benefit to women. “

Another experimental procedure called percutaneous umbilical blood sampling (PUBS) is being done by Brown at UT Southwestern. Using sonography, doctors take a blood sample from the baby through the fetal blood vessel of the umbilical cord. PUBS can be done as early as eighteen weeks in the pregnancy and can detect chromosome defects. Patients sign a special consent form and wait just a few days, instead of weeks, to find out the results.

“It speeds up the process for parents. We don’t have to grow cells in the laboratory for weeks [as with amniocentesis], and the stress produced by the wailing is less, ” says Brown.

The PUBS test can also diagnose infection in the womb, and the same procedure can be used to transfuse blood to the fetus in cases where the mother’s blood is incompatible with the baby’s.

“These days, doctors are duty-bound to offer prenatal testing, ” says Brown. He thinks the threat of malpractice lawsuits has increased the amount of testing. “Many doctors do the tests out of coercion with the legal climate the way it is. ” Though information gained from the tests can be helpful to both doctor and mother, it presents a gauntlet of ethical questions, most of which must be answered by parents themselves. “I say [to parents] that if you’re going to have these tests, you may have to make some decisions based on the results, decisions you didn’t want to face, ” Brown says.

Some parents take Brown’s words of caution and decide against prenatal testing, but doctors emphasize that they are recommended for high-risk pregnancies. For the average obstetrics patient, doctors offer these tips for easing the stress of prenatal testing:

Talk with your obstetrician/gynecologist about routine sonograms before you become pregnant. Does the physician recommend sonography for everyone?

Eat nutritiously and avoid drugs and medication before and after you become pregnant.

Become knowledgeable about the stages of pregnancy, terminology, and procedure

Before taking a prenatal test, find out how it is done and the risks.

Ask who will do the prenatal test, who will obtain consent, who will give diagnostic information, and who will interpret the data. (It is not always the same person. )

Ask if someone in addition to the doctor can give guidance for making decisions based on test results.

In April, Katie and Pat Wilson celebrated the fourth birthday of their second child, Daniel. “He is very intelligent for a boy who wasn’t supposed to have a brain, ” Katie says. “I look at him every night and thank God we didn’t terminate a healthy baby. ” Katie since has given birth to a third son. She declined all prenatal testing.

In March, Nelda and Worth Wren became parents of a baby girl, Johnnie Jacqueline. The Wrens already have a two-year-old boy, and they aren’t sure about a third child.

In February, Vic and Tammy Vines had a healthy baby girl, Molly. “We were in the same room with the same surgeons as Emily’s birth. I remember the room was deathly quiet after Emily was born. No one would tell me what was wrong. But I knew things weren’t okay when Emily didn’t cry, ” says Tammy. The second Caesarean section was different in an important way.

“When Molly was born, she cried, ” says Tammy. “Both surgeons looked over the drapes and they said, ’she’s beautiful and she’s just fine. ’ We were so relieved. “