Analyzing Amnio
Miriam Schneider of Manhattan, N.Y., had amniocentesis (amnio), a test for birth defects and other conditions, after successful infertility treatments. Schneider had not one, but two completely healthy twin girls.
“I decided to have amnio because when I was 39, my husband and I went through in vitro fertilization and we had ICSI [intracytoplasmic sperm injection],” says Schneider. “We wanted to make sure there were no birth defects.”
Physicians typically recommend amniocentesis for women 15 to 20 weeks pregnant who have an increased risk of certain birth defects or malformations in the fetus. By testing a few teaspoons of amniotic fluid, a genetic counselor or doctor may detect chromosomal abnormalities, fetal anemia, the baby’s gender, Rh disease and genetic disorders including cystic fibrosis, sickle cell disease and Tay-Sachs disease.
Schneider has a history of Down syndrome in her family. “We did not want to know the sex, so that was not a reason we did it,” Schneider says. “My husband is 33 years older than I am. With his age and my age, the challenges of raising a severely handicapped child – we did not want to have that be a problem we would face.”
Soul Searching
Schneider says amnio raises moral questions for some people. She had a cousin who was also 39 when she became pregnant, but decided not to have amnio because she wanted to keep her child no matter what the outcome.
“For her, it would not have made any difference in the outcome of the pregnancy for her, so why undergo the procedure with the risks it entails?” Schneider says. “She never did it and she had fine, healthy children. I know another couple who felt the same way and had a baby with Down syndrome and she is the delight of their life. If your personal beliefs do not allow you to entertain the idea of an abortion, then I would not recommend it at all. If you have feelings about what kind of quality of life you want for yourself and your family and abortion is an option, I would say yes, do it.”
What to Expect
Experts say the amnio procedure involves extracting fluid from the amniotic sac in the uterus.
Because Schneider was pregnant with fraternal twins, she was poked twice. “There is some discomfort when they insert the needle, but it was nothing so overwhelming that I would not let them do it for the second poke,” she says. “It was not any worse than all the shots you have to subject yourself to when you are going through in vitro fertilization.”
Some women experience cramping and spotting after the procedure.
During amnio, a woman lies on her back while a needle is inserted into her abdomen. Meanwhile, an ultrasound indicates the location of the fetus.
“It is uncomfortable and it can be painful,” Schneider says. “It carries a slight risk of miscarriage. There are a lot of things you need to think about before you do it.”
Michelle Kling, the director of media relations for the March of Dimes based in White Plains, N.Y., says the risk of miscarriage is small, about 1 in 200, with amnio. She says the more skilled the technician, the less likely a woman is to have problems.
Some women are concerned the amnio needle might injure their fetus. When a complication occurs, usually it leaves a minor scar on the skin of the baby.
Another risk of amnio is the development of an Rh problem for women who are Rh-negative. Your physician will inject Rh immune globulin (RhoGam) just after the amnio if you are Rh-negative, so make sure your doctor tests your blood type.
Are You a Candidate?
Kling suggests visiting your doctor to find out if you are a candidate for amnio. If you are 35 or older, have previously been pregnant with a child with a birth defect or have a history of genetic disorders in your family then your doctor will most likely recommend it.
“First, you would go to your doctor if you were pregnant and get your prenatal checkup,” Kling says. “You would be offered a number of screening tests. These are mostly blood tests. Ninety-nine percent of women in the United States get these screening tests, which screen for a variety of disorders [including] spina bifada, Down syndrome and a number of different disorders.”
She says if your doctor sees unusual results from a screening, he or she will offer a diagnostic test, which includes amnio. “There are people who have amnio and they think if their amnio results are normal that means the baby has no problems, but that’s not true,” Kling says. “You are only looking for something specific based on the result of the screening test or, alternatively, if there is history in your family of a certain disorder, you will be looking for that disorder.”
Kling says prenatal tests provide valuable information, even for women who would never consider terminating their pregnancies. “I think the March of Dimes’ advice is if there is a disorder that runs in your family and you are worried about it, the best time to get tested is before you are pregnant,” Kling says. “You could find out before you get pregnant whether or not you are a carrier for the gene you are worried about. That can put your mind to rest.”
One of the positive aspects of learning your child has a birth disorder is the fact it means you have time to prepare, says Kling. “It can help [parents] prepare for the special care their child is going to need,” she says. “And you can prepare emotionally, financially and by seeking out experts in your child’s disorder.”
If you find out your child has a birth defect, there is still hope. “There are always new medical and surgical treatments,” Kling says. “The goal is to one day be able to treat all these disorders in the womb so the baby can be born healthy. We are funding research on a number of birth defects, the origins as well as treatments.”
Kling says most of the time screening and diagnostic tests simply confirm the baby is healthy. “Nobody goes into a pregnancy thinking they are going to have a problem,” Kling says. “Everybody goes into it thinking they are going to have a healthy baby.”
Jennifer Kumble of Manhattan, N.Y., the mother of a 4-year-old boy and twin 10-year-old girls, says she had amnio for both pregnancies. For the first pregnancy, the fact she was having twins was considered high risk. “My second pregnancy was after I was 35,” Kumble says. “In both cases, it was perfectly normal for me to have amnio.”
But Kumble says most of her friends have amnio even if they don’t have high risk factors or a history of genetic problems. “I can tell you everyone is crazy here,” she says. “Everybody has amnio. It does not matter if they are 22 or 30 or 42. I know I did and [so did] all my friends who go to my doctor.” All three of her children are healthy.
Kumble says she would have been fine without the information the amnio gave her. “I’m not really that neurotic,” Kumble says. “I’m more like ‘Let the chips fall where they may.’ If there is something I can do, then give me information and wonderful. If there isn’t, I’ll deal.”
While some people elect amnio because all their friends are having it, it’s a diagnostic test, which requires more contemplation than having your teeth cleaned. Weigh the benefits and risks and then talk to your doctor or a genetic counselor to find out if it’s best for you and your baby.
What You Need to Know About Amnio
- Rest and avoid heavy lifting for a few days after having amnio.
- Expect some minor cramping after amnio. Some women experience leaking of amniotic fluid and vaginal spotting. Call your doctor if you have a fever or spotting.
- Results usually come two weeks after performing chromosome analysis.
- Your doctor may need to repeat the test if the results are not clear. You may need to wait another two weeks for results.
- Just because the amnio results show your child does not have Down syndrome or a specific disorder does not mean your child will not have any birth defects. Doctors use amnio to look for specific disorders.
- Amnio is usually performed 15 to 18 weeks after your last menstrual period but can also be performed in the third trimester to determine if your child could breathe on his or her own in case of a premature birth.
- The Centers for Disease Control and Prevention estimate the rate of miscarriage due to amnio is 1 in 200 to 1 in 400.
- Amnio also can be used to diagnose a uterine infection.
- Discuss the amnio procedure with a genetic counselor who can help you understand the risks and benefits for you.
- Tour hospitals and investigate your options. You may decide to choose a hospital with better technology or a specialist as well as a registered diagnostic medical sonographer who will provide ultrasound guidance during the procedure.