When her son Allan was born in 1982, he had congenital pneumonia, contused ribs and a variety of other health problems. Although his condition seemed to indicate a chromosome disorder, tests conducted shortly after his birth were inconclusive. Seven years later, new testing procedures confirmed that Allan had an abnormal 21st chromosome but could provide no further information. Finally, when Allan was 11 years old, advanced testing technology revealed that he carried extra genetic material on his 21st chromosome and that other parts of the chromosome were missing.

"The first few years, not knowing, were the hardest," says Allman, of Phoenix. "We didn't know what was wrong but we knew there was something underlying this whole thing."

Allman's experience poignantly illustrates the evolution of knowledge that has taken place in the science of genetics. Perhaps, as researchers continue to discover new diseases and new ways to test for them, other parents will be spared the agony of "not knowing."

Three to five percent of babies are born with genetic problems ranging from mild defects, like an extra finger, to serious medical disorders, like cystic fibrosis, according to Rick Wagner, a genetic counselor at the Arizona Institute for Genetics and Fetal Medicine.

Genetic defects can be broken down into three main categories: inherited disorders, environmental birth defects and multi-factorial defects that have both inherited and environmental components. Looking at a family's medical history can help doctors determine the risk of an inherited disorder but can't help predict environmental disorders, like most cases of Down's syndrome.

Screening: The First Step
Because genes carry all of the information about our physical makeup—from hair color to height—the range of genetic diseases is virtually unlimited. However, Wagner says most cases fall within a small range of common disorders.

Testing methods depend on the nature of the problem being sought, Wagner says.

It is impossible to test every pregnant woman for every known genetic disorder. Instead, routine screening tests help identify risk factors. Women with a high risk of passing on a disorder can then seek further testing.

The first screening test occurs during a woman's first visit to the obstetrician and involves a simple questionnaire asking about family history, pregnancy history and ethnic background. Factors that send up red flags include a family history of disorders, certain ethnic backgrounds, previous children with chromosomal abnormalities or maternal age of 35 or older.

Around the 16th to 18th week of pregnancy, most women will undergo an alphafetoprotein (AFP) or AFP-Plus screening test. AFP is a protein produced in the fetal liver. Some of this protein spills over into the mother's bloodstream during pregnancy. When the fetus has an open neural tube defect (ONTD) like spina bifida, more AFP than usual spills into the mother's bloodstream. Doctors can measure the amount of AFP in the mother's blood to find out if a baby is at risk for an ONTD. AFP-Plus looks at several substances in the blood and tests for Down's syndrome in addition to ONTDs.

AFP and AFP-Plus are screening tests, not diagnostic tests, says Wagner. As such, they can suggest an increased risk but don't actually diagnose a problem.

"AFP is probably one of the most confusing tests that we have," he says. "The test is simply trying to identify an increased risk. We expect most of the people who have positive screening tests to come back and have normal babies."

Diagnostic Tests
Women whose babies are at high risk for a disorder can receive further testing from their OB/GYN or a genetic specialist. They also may want to talk to a genetic counselor. Genetic counselors help parents get information they need about the different diagnostic procedures—what the procedures test for and what risks they involve.

"I think some people come into our office thinking,'Oh God, my baby definitely has this problem,' and that's not always the case," says Pamela Nutting, a genetic counselor at United Genetics in Phoenix, who sees many frightened and confused parents.

Nutting suggests that patients make sure their doctors fully explain the results of any test they take.

The most common prenatal diagnostic tests include:

• Ultrasound: This non-invasive test uses sound waves to examine the anatomy of the fetus for abnormalities. The procedure also is used to ensure safety during amniocentesis and chorionic villus sampling.
• Amniocentesis: In this test, a small needle is inserted through the abdomen into the amniotic sac and used to withdraw a small amount of amniotic fluid. Fetal cells in the fluid are examined for chromosomal abnormalities, most notably Down's syndrome and ONTDs. The test is usually performed around the 16th week of pregnancy, although early amniocentesis (12 to 15 weeks) is now available. The risk of miscarriage from amniocentesis is one in 250, and slightly higher with early amniocentesis.
• Chorionic villus sampling: This test can be performed earlier than amniocentesis (9 1/2 to 11 weeks). During CVS, a catheter is inserted through the cervix and a small sample of placental tissue is taken and examined for chromosomal abnormalities. The risk of miscarriage from CVS is between one in 50 and one in 100.

If a disorder is diagnosed through one or more of these testing procedures, genetic counselors educate parents about the disorder and counsel them about their options. Although many genetic disorders are not yet curable, many couples use the knowledge to prepare themselves for raising a special-needs child. Others may feel that they can't handle a challenged child and opt for an abortion.

Not all genetic disorders are detected during pregnancy. Some couples seek genetic counseling and testing because their infant or child is not developing normally. Many times all they have to go on is "a mother's instinct," a gut feeling that something isn't right, says Sarah Richter, a genetic counselor at the Maricopa Medical center.

Richter urges parents to trust their instincts.

"I don't know how many times I've heard this story," she says. "The physician will say, 'You're just the mother; you don't know anything,' when all along the mother was right."

Richter advises parents to be aggressive in raising concerns with their doctors.

"Make sure that you get your questions answered in a manner that you can understand," she says.

When parents come to her, Richter first obtains the child's medical records, starting at birth, to see what testing and treatments already have been tried. She talks to the family to determine if anything has been overlooked. Next, a doctor conducts a physical exam of the child to look for signs of abnormal development. The exam involves a lot of measuring—of ears, eyes, hands, height and weight. Any difference from the norm can provide clues about the kinds of tests to conduct.

The next most common step is a blood test that looks for any changes in the number and appearance of the child's chromosomes. Metabolic testing of the blood and/or urine is also common.

Many of Richter's patients already have a child with a defect and are pregnant or considering having another baby. They come to her to find out the risk of the disease appearing again. However, many of these patients ultimately decide against diagnostic testing.

"I think it makes them uncomfortable," she says. "They probably wouldn't terminate a pregnancy. They might not want the disorder to happen again but they feel it might negate the previous, affected child if they terminate the pregnancy. Many of these people decide not to have more children because they don't want to be put in those shoes."

In Vitro Engineering
Robert Tamis, M.D., director of the Arizona Institute of Reproductive Medicine in Phoenix, assists couples who have had genetically defective pregnancies in the past and want to have a "normal" baby. New in vitro ("in glass") fertilization techniques can help some of these parents and eliminate the question of abortion.

"There are certain genetic defects that seem to be quite repetitive, such as hemophilia," Tamis says. "There are others that could be just a per chance occurrance, such as Down's syndrome. Is is necessary for a woman with a great aunt who had a Down's syndrome baby to go through this technique? The answer is no. The place for the technology is in those conditions that we know have a very high chance for recurrance."

In vitro fertilization is the process of fertilizing a woman's egg cells outside of her body. Once an egg is successfully fertilized, the embryo can be inserted into her uterus through the vagina in a procedure similar to a regular pelvic exam. The technique can be done from start to finish in a doctor's office.

The physician can fertilize several eggs at once for couples who have a high risk of passing on genetic defects. When the eggs have been fertilized, the doctor takes a biopsy from each embryo and studies them for genetic rpoblems. This procedure is done just a few days after fertilization, when the embryo consists of only a few dozen cells.

Once a healthy embryo is found, it can be implanted into the mother and, hopefully, a full-term pregnancy will occur. The couple can be confident that they have not passed on a familial disorder. The remaining embryos are destroyed in the doctor's office.

Tamis acknowledges that, because not every fertilized embryo is allowed to develop fully, his work is controversial.

"It's a very difficult thing to answer to the people who feel that life begins at conception," he says. "The point is that there are multiple religions that believe life begins at different times. Some believe it begins when a baby is born and takes its first breath.

"It's our role as physicians to let patients know what's out there for them scientifically and then the consensus is reached between the technology that's available to them and what their needs are—either medically or emotionally or religiously."

The idea of "test tube babies" invariably brings out fears of a world in which people try to create perfect little babies, but Tamis says this situation is far from likely. Although many genetic attributes can be tested for after fertilization, they cannot be controlled—or planned—beforehand, he says.

Several researchers have claimed to be able to separate male and female sperm cells, allowing parents to determine the sex of their baby even before fertilizing an egg. But these procedures generally don't work, Tamis says. "Anyone who does it is basically lucky that the baby comes out the way they expected," he says, adding that more recent research refutes the earlier claims.

Even if such technologies are developed, cost will probably keep actual attempts at genetic engineering to a minimum. In vitro fertilization ranges from $6,000 to $8,000, excluding laboratory fees, Tamis says. "Not a lot of people can afford that, and insurance isn't going to pay for it. On top of that, in vitro fertilization is not a guarantee that the woman ends up pregnant."

For now, most of the genetic technology involved with in vitro fertilization is limited to parents with a high risk for passing on a disorder, Tamis says.

And many people, including Susan Allman, would rather take their chances anyway. Allan's disorder has been trying, she says. His condition has run the gamut from mild to life-threatening. Allman had to leave her job in 1983 and devote herself full-time to Allan's various therapies. Her marriage ended, partly due to the strain of caring for a high-needs child. But she says she has few regrets.

"It's been a long haul but it's got its major rewards, too. It has changed my whole understanding of what's important in life," she says. Without Allan, Allman says her life could have been career-driven and materialistic. Having her son has helped her gain patience, empathy and a sense of humor.

"I was known as the Crazy Mama by one of the girls at Phoenix Children's Hospital," Allman says. "If we didn't laugh, we cried. And if you laughed, your kid laughed, too. Allan has always had a tremendous sense of humor, which stems from my father's side of the family. There's a genetic factor in that, too!"

Thinking about getting pregnant? The time to prevent birth defects is now.

The Centers for Disease Control recommend that all women who are considering becoming pregnant take .4 mg of folic acid daily. This B-vitamin has been shown to reduce the risk of having a baby with spina bifida by 50 to 60 percent—but you should start taking it before conception.

"I usually preach to people, 'Start taking your vitamins now,' because most of the time people don't realize they're pregnant until after the spinal column has formed," says Sarah Richter, a genetic counselor at the Maricopa Medical Center in Phoenix. Spina bifida ("forked spine") results from an incomplete formation of the spinal column and occurs in approximately one in every one thousand babies.

New studies also suggest that folic acid may help reduce the incidence of cleft lip and palate, another common birth defect, Richter says. Women with a family history of spina bifida or cleft lip and palate should discuss the issue with their doctors, who can prescribe an even higher dose of the vitamin.

Once women become pregnant, they can reduce the risk of birth defects by avoiding alcohol, drugs, unnecessary X-rays and megadoses of vitamins, which can be just as dangerous as vitamin deficiencies.

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