Babies Tale

Because of these tests, many women enjoy their pregnancy free of certain worries. But for many others, the tests present some very difficult choices. Some women feel they can only start a pregnancy in later life because they have the option of learning if the baby has chromosomal abnormality. Others feel uncertain about this “advantage:”

“We agreed we couldn’t cope with a baby with severe disabilities, so I had all the tests. But I don’t think having the tests influenced my decision to have a baby. Having a baby is a very emotional decision. I was glad to have the tests but I didn’t really think about it in advance-I would have taken the risk.”

Other mothers regret the existence of such tests, because they feel it puts an extra strain on the pregnancy:

“Because I was 38 when my first baby was conceived, I decided I would have the amniocentesis done. This turned the first six months of my pregnancy, a time that should have been a happy one for me, into a nightmare.

“First I refused to ‘bond’ with the baby in my mind, in case there was something wrong with him or her. By the time the test was to be done, I’d worked myself into a state about it, and convinced myself the result would be bad.

“When the test was done I felt contractions, as if I were starting labor, which terrified me. Later I had a threatened miscarriage, which I’m sure was connected. I heard results sooner than I expected, but it was neither a positive nor a negative result, because the test hadn’t taken. I was told there was just enough time to repeat the test if I wanted to. After a lot of agonizing I decided to do this.

Again I had to wait two weeks-in fact a little longer-before the result came. Everything was fine. I was so relieved! But the whole episode made me feel very protective toward my baby, not wanting him to be interfered with-and at the same time, alienated all that time from him in case he was abnormal.”

Because amniocentesis is normally carried out at 16 to 18 weeks, and the results take from two to four weeks to come back, a woman can be as far along as 22 weeks pregnant when she learns her baby is not healthy. Recently amniocentesis has been performed as early as 11-1/2 weeks, allowing for vaginal abortion at 14 weeks. This means she will have felt the baby move and she will be having an abortion almost at the time when the baby could live if it were born prematurely. The abortion will be a regular labor, although the fetus is terminated first by the injection of hypo-saline solution or chemicals into the womb. Labor is induced medically, usually with prostaglandins, and may last a long time. Many women find this kind of labor a terrible experience:

I couldn’t bear to think about it or talk about it. It was a travesty of everything I’d ever read about the glory and wonder of childbirth. It was agony, and I just wanted to be drugged until it was all over. I wouldn’t let my husband be there; I couldn’t have stood it for him to have to suffer it too.”

Although choosing to have a termination is a terrible and shocking experience, those couples who do so find it preferable to bringing a child with severe disabilities into the world. However, some couples do choose to bring up their children with disabilities, or adopt other people, and find great rewards in doing so:

“Of course it was hard at first to have a baby with Down syndrome, and we’ve had difficulties since he was born. But in the end we just loved him - he’s our child and he’s brought a lot of love into our lives.”

Some mothers feel the screening tests put too much pressure on them and medicalize the pregnancy. “Before my first baby was born when I was 37, I had all these tests. I felt I had been taken over by doctors. I spent hours waiting at my doctor’s office and at labs. They were offering a whole variety of new tests, including a blood test that was supposed to detect a person’s higher risk of having a baby with Down syndrome.

“After the blood test, I got a phone call to say the result was positive. I was so distressed; I couldn’t understand what they were saying at first. They explained the result was borderline but that I should come in and talk about an amniocentesis. They told me that the risk based on my age alone was 1 in 287 while with this test it was 1 in 100.

“Did he advise an amniocentesis? It was borderline. He thought it would put my mind at rest. I pointed out that until I’d had this blood test my mind was at rest. My husband and I talked it over, and we decided to have the amnio. I hated it, and I hated waiting for the results, which were fine. With the second baby 18 months later, I opted out. Everybody said, ‘But you’re at more risk,’ but I just didn’t want to know. I turned down everything, even the AFP blood test. My obstetrician was supportive; he said it was my right to have the tests or not. The pregnancy and birth were very straightforward and I had a very healthy child.”

This is the most common chromosomal abnormality and affects about 1 in 650 live-born infants. The risk of having a baby with Down syndrome increases with the mother’s age. At 20, a woman has about a one in 2,000 chance of having an affected child. At the age of 30 the likelihood has risen to about one in 900, and by 40 to about one in 100. After this it rises still more steeply, so that a 43year-old mother has about a one-in-50 chance and a 47-year-old mother, about a one-in-20 chance. By age 50, the chance is about one in 10. There is also evidence that the risk of having a baby with Down syndrome increases if the father is older than 55.

The most significant problem faced by children with Down syndrome is that they are mentally disabled, although the degree of disability varies. Some can, with help and stimulation, achieve IQs of about 80, considered to be the low end of the normal spectrum; many have IQs of less than 50 and are severely mentally disabled. Children with Down syndrome are also recognized by their flattened profile, slanted eyes with an extra fold and stubby fingers. Most grow slowly and are small for their age. Many have additional disabilities-heart defects, eye abnormalities, hearing problems and a tendency to respiratory infections are common. Babies with Down syndrome are characteristically “floppy” at birth and many have problems with breastfeeding because they may lack the strength to feed properly as well as the reflex to suck.

Most women expect to have a normal, healthy baby when they go into labor, although a very small number may know that their baby is likely to be born with disabilities. When things go wrong and a woman has to face this at the time of the birth, the shock and disbelief can be devastating.

“They told us after the birth that she wasn’t normal. I refused to listen. I said, ‘If you’re worried about her slanting eyes, my other children had that. They’re my husband’s eyes.’ Then they showed me how she didn’t have normal reflexes and how floppy she was and one or two other things and I had to believe it was true. My husband was also told, and he didn’t know what to say; we couldn’t look at one another. My first feeling for the baby was absolute hate: I hated her for not being normal. I seriously thought of giving her up for adoption. That feeling lasted a day or two.”

It may take the parents days, weeks and sometimes even months to accept what has happened and to acknowledge that a baby born with some form of disability needs just as much love and care as a normal baby.

“I wouldn’t talk to the other mothers, or the staff, wouldn’t see my family and wouldn’t see the baby. Then I thought, she can’t be that bad, I’ll just go look at her. She was asleep. The nurses had been feeding her. I just looked and looked at her and she was so tiny, so beautiful, like my other babies had been. I felt a rush of love and when my husband came I was feeding her and crying. I told him, ‘We have to keep her, she needs us more than anyone.’ He just smiled and smiled and said, ‘That’s what I’ve been waiting to hear. It doesn’t matter, we’ll love her anyway.’ I won’t say things have been easy, but I don’t regret having her now, although of course sometimes I wish she had been normal.”

Down syndrome is the most common chromosomal abnormality involving an extra chromosome - chromosome 21, in this case. There are others, such as Edward’s syndrome, or Trisomy 18, involving an extra eighteenth chromosome. Edward’s syndrome is the most common Trisomy after Down syndrome, and occurs in about one in 5,000 live births. It leads to multiple congenital disabilities and most children die within a few days or weeks after birth, despite medical intervention. Edward’s syndrome babies are usually small, with tiny features and pixie like ears, and have internal heart and kidney abnormalities. As with other chromosomal abnormalities of this kind, there is some association with maternal age.