Babies Tale

This technique involves passing a very small tube containing a light and a lens into the uterus so the developing baby can be seen. The tube is introduced through a small incision made just above the pubic bone under a local anesthetic. Fetoscopy is carried out in the second three months of pregnancy. Samples of the baby’s blood, skin and liver can be taken. A number of abnormalities can be detected by fetoscopy that cannot be learned any other way. The procedure has recently been used to “operate” on the unborn baby, enabling drugs and transfusions to be put directly into the baby’s bloodstream.

The baby is usually viewed at around 16 weeks and blood samples taken between 17 and 22 weeks. External defects (to the face or limbs) and neural-tube defects are clearly visible. Hemophilia and other blood disorders can be detected; so can some diseases of metabolism. The technique is not used lightly, however, because it carries a substantially increased risk of miscarriage, death of the baby in the womb or premature labor.

Chorionic Villi Sampling (CVS)

This is a relatively new technique being offered in some hospitals as an alternative to amniocentesis. The advantage of the test is that it can be carried out much earlier than amniocentesis. CVS gives the mother who finds that her baby has serious birth defects the chance to terminate the pregnancy earlier, when it can be carried out simply, rather than as induced labor after she has felt the baby moving.

The CVS test is carried out by passing a thin tube through the cervix (neck of the womb) and removing a tiny fragment of tissue from the placenta. This can be done without an anesthetic and, as with amniocentesis; ultrasound is used to show the exact position of the fetus and placenta. The vagina is cleaned with antiseptic solution beforehand to prevent germs from being introduced into the womb.

The test is usually not painful, but it is uncomfortable for many women, a little like having a Pap smear or, some women say, like having an IUD (intrauterine device) fitted. The test takes 10 to 20 minutes and you will be allowed to go home after about an hour. As with amniocentesis, you may be advised to take things easy for a day or two because of the risk of miscarriage. At the moment, this risk seems to be about one in 50, two or three times more likely than with amniocentesis. At present, the test is performed in medical centers. Going to a medical center with a good track record for giving these tests may help reduce the associated risks.

CVS detects chromosomal abnormalities in the same way amniocentesis does, but it does not identify neural-tube defects. Women who have this test will also be given the AFP blood test to detect spina bifida. The results can be available quickly, sometimes in a matter of days.

When an Abnormality is Found

The vast majority of women who have these screening tests in pregnancy are reassured that all is well, and this enables them and older mothers in particular, to relax and enjoy the rest of their pregnancy. But tests do not detect all problems, and tests are not foolproof. In addition, problems can occur at birth, which can result in a disability.

In the small number of cases where an abnormality is found, however, the pregnancy is transformed from a happy event into a nightmare. Some women feel this is just as traumatic as losing a full-term baby. Knowing you are carrying a child with disabilities and having to decide whether or not to have a termination is one of the most difficult experiences anyone can face. Hospitals often lack adequate support services and do not know how to deal with a couple’s distress and grief. A number of organizations can help; one with a wide network is SHARE.

Doctors may fail to explain the news well or there may be confusion over the results:

“They called and said the baby was a girl, and there was a problem. She mentioned Down syndrome, and my thoughts went into a tailspin. She gave me an appointment to see the doctor. I walked around in a daze; I couldn’t bring myself to tell anyone. When I saw the consultant, she explained that my daughter would not suffer from Down syndrome herself, but one chromosome was abnormal, so any children she had would suffer from Down syndrome. In other words, the baby I had for days been considering aborting would be perfectly normal.”

Another mother felt that the way the news was broken to her was far from satisfactory:

“They didn’t call with the results of the amnio so finally I called them. They said, ‘Oh, yes, but we can’t discuss this over the phone. You have to make an appointment to come in.’ I knew then something was wrong, so I asked, ‘What is it? Is it Down syndrome?’ She said no, it wasn’t, and I would have to wait till I saw the doctor. We had to wait another day. They told us there was a high level of alpha-fetoprotein in the fluid and that it was likely the baby had spina bifida. They would like to do another scan to check because they hadn’t picked it up before. This time they did. They all looked at the screen, not me, although there were tears pouring down my face the whole time. The consultant explained what the outlook was and painted this dismal picture for the child. We decided on an abortion right then, but for some bureaucratic reason had to wait. In the meantime I was given no support.”

A study carried out in the United States by the National Institutes for Child Health showed that of parents who discover their baby is abnormal, 95% decide on a termination. Some hospitals advise that if a couple knows they do not want to have a termination they should not have the tests, to spare them “unnecessary” expense. However, not all couples know until the decision is upon them. Others feel they have the right to know, no matter what, so they can prepare themselves-both in a practical sense and from an emotional point of view:

“I was 40 and had had years of infertility problems. In fact, a couple of months before I did conceive I had been told I would never conceive. We discussed the possibility of a child with disabilities and decided to have an amnio, because we didn’t want to cope with a baby with severe problems. Before the scan we had decided on a termination if anything was wrong. But when we actually saw the baby, we both came out and said, ‘This is it, we won’t have a termination.’ But we still went ahead and had the amnio.”

“We would never have had a termination; I don’t believe it’s right. But if it had been Down syndrome or something, I would have wanted to know so we could prepare ourselves, read up about it, and tell the family in advance. I don’t see why that should be kept from you.”

It is a particularly harrowing experience if the mother is carrying a sex-linked genetic disease that affects only boys, such as hemophilia or Duchenne muscular dystrophy. The latter is a particularly distressing disease in which a child who appears normal at birth suffers a gradual loss of muscular strength, becomes progressively paralyzed and dies at about the age of 20. If the mother is known to carry the disease, her male offspring has a 50% chance of having the disease. Amniocentesis can tell the parents the child’s sex, but not whether he has the disease, so parents can be faced with the agonizing choice of terminating the pregnancy if they are carrying a boy without knowing if he is affected or not. A girl has a 50% chance of being a carrier, but will not have the disease.

IVF has opened up a new possibility for people carrying genetic diseases with pre-implantation diagnosis. Here the woman’s ovaries would be stimulated to produce several eggs, which are collected and fertilized “in vitro.” About three days after fertilization, one cell can be removed from each embryo and tested for presence of the faulty gene. Only normal embryos would be reimplanted and the woman would have the hope of a pregnancy in which she didn’t have to worry about carrying an affected child. However, she would have to go through the full IVF procedure. So far, about 10 pregnancies have been achieved world-wide following pre-implantation diagnosis.

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