Fetal Problems

I know this is something that every mother worries about, but I can't stress strongly enough that such problems are very, very rare, so please try not to be too anxious. The cause of many fetal defects is still unknown. Some may be caused by a defective gene while others could be due to the harmful effects of drugs, radiation, infections of a baby in the womb, or metabolic disturbances.

There are a number of different kinds of defects, but most are very rare. The parts of a baby's body that are most actively growing at the time when the damaging factor happens are the most likely to show the defect. Some malformations are incompatible with life, and no treatment is possible. The defects that are especially important to recognize just after birth are those that endanger life but, with prompt intervention, can be treated successfully. The good news is that an increasing number of problems are now picked up by ultrasound scans before birth, and many can be treated just after birth or later in infancy.

Imperforate anus - This means that the anus is sealed, either because there's a thin membrane of skin over the anal opening, or the anal canal that links the rectum with the anus has not developed. The rectal pouch may be connected to the vagina, urethra, or bladder, and a baby with this problem will need immediate surgery. This condition is rare, but every baby is carefully checked at birth, so treatment can be given if necessary.

Umbilical hernia - In most babies, the gap in the muscle sheath in the abdominal cavity, where the umbilical cord entered his abdomen, normally closes up in time. Sometimes, though, a soft swelling called an umbilical hernia forms when the abdominal contents bulge through this weak spot in the abdomen. The hernia usually disappears eventually, although a few babies may need surgery later in childhood.

Congenital heart disease - Hole in the heart (ventricular septal defect) is the most common form of congenital heart disease. In this condition there's a hole in the baby's septum, the thin dividing wall between the right and left ventricles (pumping chambers) of the heart, so the ventricles are connected instead of being divided. A newborn baby doesn't usually show any signs of the problem. It may take as long as four weeks for the blood vessels in the lungs to relax sufficiently to allow pressure differences to develop between the ventricles ,and this means that there may not be much left-to-right shunt of blood through the hole for a month or so. Until then, there probably won't be any symptoms. Signs to look out for are a bluish tinge to the skin, especially around the mouth, floppiness, and breathlessness. One of the first signs may be breathlessness while feeding. Not all babies need surgery; in some, the hole closes by itself.

Some types of congenital heart disease can be picked up by an ultrasound scan before birth. If your baby is found to have a serious heart problem, your doctors may advise you to give birth in a hospital that's equipped with special facilities for dealing with such conditions.

Congenital dislocation of the hip - The hip can dislocate when the ball at the head of the thighbone doesn't fit snugly into the socket of the hip joint. In the newborn infant this is a potential, rather than an actual, problem. It's much more common in girls and in breech babies.

When your midwives do their routine check of your newborn baby, they'll check his hips for excessive mobility, or for a characteristic "clunk" felt when his legs are spread apart and his thighs are flexed. If there's any doubt, they'll get specialist advice. Early followup and treatment such as manipulation and splinting may prevent trouble later, but some babies with severe dislocation may need surgery.

Spina bifida - In this condition the vertebral bones of the spine do not fuse and the meninges (the coverings of the brain and spinal cord) bulge through at some level in the spinal column. The area may be covered with skin, or only by a bluish membrane. It may contain nerve roots, or the spinal cord itself may be exposed. In many cases, the place where the bones of the vertebrae are not fused is covered with skin and is only marked by a small, dark, hairy mole. Happily, spina bifida is becoming less common. There's careful monitoring of those more at risk, and we know much more about the importance of taking folic acid before conception and during the early weeks of pregnancy.

Because the various coverings that normally protect the cord aren't there, meningeal infection can happen very easily. This can be prevented by immediate surgery to cover the defect. Spina bifida can be picked up by ultrasound, and babies with a good prognosis can be sent to a special clinic where the necessary surgery can be performed without delay. But for babies with severe defects, the outlook is not encouraging. Problems may include paralysis, incontinence, mental retardation, and the appearance of hydrocephalus.

Hydrocephalus (water on the brain) Hydrocephalus means there's too much cerebrospinal fluid inside the baby's skull. It often accompanies other neurological defects, such as spina bifida, and it's caused by restricted circulation of cerebrospinal fluid in the brain. Hydrocephalus is most common following brain hemorrhage in an unborn baby. The baby's head swells, and soft tissues between the skull bones and the fontanelles become wide and bulging. If this happens before birth, due to congenital malformations, it will obstruct labor, or cause a baby's head to get very large after birth. If doctors suspect hydrocephalus before birth, they will make frequent ultrasound checks and measure the circumference of the baby's head.

Neural tube defects such as spina bifida and hydrocephalus may be diagnosed by ultrasound or amniocentesis well before a baby is born.

Cerebral palsy - This is caused by damage to the brain before, during, or after birth-for instance, because of a poor supply of oxygen to the brain in late pregnancy or a difficult labor. Other causes include infection of a mother's uterus, or meningitis or a severe injury to the baby's head after birth. Premature babies are particularly vulnerable.

Cerebral palsy causes muscular paralysis, stiffness, and coordination problems. It cannot be detected before birth, and. the symptoms aren't usually obvious until a baby is several months old and his development appears to be delayed. He may not be walking, sitting, or making normal progress as expected; he may have stiffness in his arms or legs, or a persistent abnormal posture. The degree of disability varies widely. If the limbs tend to be stiff and fixed in certain postures, a child is termed "spastic." If he is prone to frequent, purposeless writing movements, he is said to be "athetoid."

Cerebral palsy is an incurable condition, but it is not progressive-it doesn't get worse as the child grows older. And it's quite common for a child with cerebral palsy to have normal intelligence and social capabilities. Physiotherapy will help to prevent the deformities caused by stiffness and spasms, and develop muscular balance and control; speech therapy will help to ease any communication problems. As with all disabled children, the emphasis should always be on what the child can do, not on what he cannot.

Respiratory distress syndrome (RDS) In this condition, a baby's lungs are lacking in surfactant, a substance that keeps open the minute air sacs in the lungs through which oxygen is absorbed into the blood. It happens because the baby's lungs are immature, or because crucial lung cells are temporarily not working properly because of a lack of oxygen. Respiratory distress syndrome is most common in small premature babies and in babies of diabetic mothers whose condition is not sufficiently well controlled. It's very rare in full-term babies.

Now that doctors are better able to detect immaturity of a baby's lungs before birth and the management of early deliveries and resuscitation has improved, RDS happens more rarely. It can also sometimes be prevented or made less severe by treating the mother with steroids before delivery. Infants born with RDS need to be cared for in an intensive care unit and are given surfactant to mature their lungs.

Pyloric stenosis - In this condition the ring of muscle (the pylorus) linking the stomach to the small intestine thickens and narrows. It's much more common in boys, but the cause is unknown.

Symptoms begin when the baby is two to four weeks old. Food builds up in the stomach, which contracts powerfully in an attempt to force the food through the narrow pylorus. Because this is impossible, milk is vomited up violently after a feeding. This is known as projectile vomiting because the vomit may be thrown for up to a couple of yards. The baby may suffer constipation and dehydration. A simple operation widens the pylorus, giving a complete cure.

Epispadias and hypospadias - About one in 1000 male babies has an abnormality of the penile opening of the urethra. In epispadias, the opening is on the upper surface of the penis; the penis may curve upward. In hypospadias, the opening is on the underside of the glans (head) and the penis may curve down. In extreme, but rare forms of hypospadias, the urethral opening lies between the genitals and anus, and the genitals may appear female. Surgery is straightforward and usually successful. Neither epispadias nor hypospadias causes infertility.

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