Babies Tale

Neural-tube defects, which include spina bifida and anencephaly, occur in about three in every 1,000 live births. There is no evidence these problems appear more commonly in the babies of older mothers. Early in pregnancy, a groove appears down the baby’s back and this develops into the brain and spinal cord. Normally the groove closes into a tube in which the spinal cord and brain develop, but in rare cases the tube does not close properly. If the defect is in the part of the tube that forms the brain, anencephaly results. This development is always fatal because the upper skull and brain do not form. If the defect occurs lower than around the brain, then part of the spinal cord and nerves protrude, covered by a fragile membrane; the baby is usually paralyzed from this site down. Sometimes, however, spina bifida can be less severe, is not noticeable from outside and results in minimal disability.

As many as 85% of babies severely affected with spina bifid an also have a defect called hydrocephalus. Cerebro-spinal fluid accumulates in the head, causing mental retardation if untreated. Today the fluid can be drained after birth. Surgery can repair the opening in the spine to reduce the risk of infection. Surgery and other techniques have improved the outlook for children suffering from this disability.

Spina bifida can probably be largely prevented by an adequate diet before and during early pregnancy. Evidence has shown that taking vitamin supplements rich in B-group vitamins and folic acid has greatly reduced the incidence of spina bifida, even in mothers at greater risk because the disability is in their family.

Cleft Lip and Palate

This is one of the most common abnormalities, affecting about one in 1,000 babies. This is another condition that does not seem to be more common in the babies of older mothers. The cleft is caused when the tissues that move together to form the face in very early pregnancy do not fuse, leaving a gap that can involve the lip alone, the palate, or both. The cleft can be on one or both sides of the face and varies in its seriousness. The vast majority of children with cleft lip or palate are fine in other respects, but sometimes another abnormality is present also.

Cleft palate can cause serious feeding problems in the early months, because the baby is unlikely to be able to suck well. The child will have difficulties speaking. Teeth are likely to be missing or malformed in the area of the cleft. Plastic surgery, however, can completely repair the cleft, inside and out, by the time the child reaches maturity. Speech therapy and orthodontic work are usually necessary.

Although cleft lip and palate are correctable, it is understandably distressing to give birth to an affected child:

“Our son was born with a double cleft palate and lip. When he was born it was badly disfiguring, because the middle of his upper lip and jaw were pushed forward, sort of like a beak. He had terrible feeding problems. He couldn’t suck and had to be fed with a spoon at first. You can imagine how difficult this is with a hungry, crying baby whose every instinct is to suck! He had to have a series of operations throughout his childhood. The end result is very good. But the emotional effect of hospital stays and of looking different to other children is harder to deal with than the physical repairs.”

Abnormalities in the Digestive Tract

Abnormalities in the digestive tract are other relatively common and correctable defects. They are not normally related to maternal age. These include a blockage of the entrance to the stomach, often accompanied by a situation in which the windpipe and esophagus are joined; and blockages at various points in the digestive tract, including the anus. All are easily corrected by surgery. Some can even be detected in the womb by ultrasound.

Detecting Abnormalities

Some tests are now available to screen all pregnant women. Others are available for women who are at higher risk of having a child with disabilities. Some of these tests are offered to women routinely. Others are offered only to women over certain ages that are already known to be at risk either because of family history or because of previous difficulties with pregnancies. Your healthcare professionals will explain at one of your early prenatal appointments what their procedure is and which tests they offer to women. If they don’t, and you would like to know, ask which tests they offer and when during the pregnancy they are performed.

Screening tests include:

• Ultrasound scans, which may be used as needed, from the fifth week of pregnancy to delivery
• A blood test that can detect raised levels of a substance called alpha-fetoprotein in the blood, which may indicate a neural-tube defect
• Amniocentesis (a sample of the waters surrounding the baby) enables chromosomes to be examined, shows any chromosomal abnormality and, incidentally, the child’s sex
• Rarer techniques, such as fetoscopy, in which the baby is examined through a tube inserted into the womb
• Chronic villi sampling, a technique that one day may replace amniocentesis

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