BIRTH DEFECT

Definition: Any structural difference in the baby’s body. Also called congenital anomaly or congenital malformation.

1. What are birth defects?

Birth defects are changes in the normal structure of the body that are present when the baby is born. They may be minor problems, like a small extra finger or a large birthmark, or significant problems, such as a missing limb or an abnormal heart.

2. What causes birth defects?

Some birth defects are caused by genetic problems such as chromosome abnormalities or mutations (changes) in a particular gene. Other defects are caused by exposure to a toxin during pregnancy. Alcohol, the acne medicine isotretinoin (Accutane), and methyl mercury are recognized as causing birth defects if the fetus is exposed to these substances early in the pregnancy. Some birth defects are multifactorial; they have many factors that cause them, some of which are genetic and some of which are environmental.

3. What sort of tests should be done on my child?

The specific tests that your physician may perform will depend on what part of the body is affected. Typical tests include ultrasounds of the head and abdomen, X rays, CT or MRI scans, and echocardio- grams (ultrasounds of the heart). These tests are done to determine how serious the problem is and whether there are other problems. Your child may get some or all of these tests. Genetic testing is done to try to determine the cause of the birth defect. These may include an analysis of the baby’s chromosomes, tests for specific mutations, or tests of the baby’s metabolism.

4. What is the treatment for birth defects?

The treatment depends on the birth defect. Some do not need treat- ment. Some can be treated easily while the baby is in the nursery or soon after birth. Many require monitoring by a specialist, and some can only be fixed using surgery.

5. No one else in the family has this problem; why did it happen to my child?

About one out of every twenty babies (5 percent) are born with some sort of birth defect. There are many things that have to go right in order for babies to be born normal. Sometimes this just doesn’t happen. Much of the time it is impossible to say why a particular baby has a birth defect. Sometimes a problem can run in a family without causing difficulty until a baby is born with a serious version of it.

6. Do we need to consult with a geneticist or any other specialist?

Yes. All babies with birth defects can benefit from seeing a doctor who specializes in genetics. The geneticist will help determine whether the problem is isolated or whether there is a larger “syndrome.” It is always helpful to have the input of a geneticist before undergoing genetic testing. He or she can also help find out whether the problem runs in the family and what your chances are of having another affected child.

7. Will my next child have birth defects?

Whether birth defects will happen in another child depends on what the defects are and what caused them. All pregnancies have a risk of about 5 percent (one in twenty) that the baby will have a birth defect. Having one child with a birth defect increases your chances of having another. The first step is to have a firm diagnosis of the problem in your affected child.

8. How early can birth defects be diagnosed?

Large birth defects, such as spina bifida, can be detected in the late first trimester of pregnancy. As pregnancy progresses and the fetus gets larger, other birth defects can become apparent. If your doctor knows you have one child with a particular problem, then the doctor can specifically look for that problem. Some birth defects, such as cleft palate, are very difficult to diagnose before birth. All birth defects can be diagnosed after birth, but some are not found until the child is older, or unless they cause a problem.

9. Is there a way to prevent birth defects?

Every pregnancy is at risk for birth defects. There is no guaranteed way to eliminate all of them, but you can reduce the risk. Here are some ways to reduce your risk of having a child with birth defects:

• Be as healthy as possible before you get pregnant. Control chronic illnesses and start taking prenatal vitamins or at least 
  folic acid supplements. 
• Plan and space out your pregnancies and get good care during 
  your pregnancy. 
• Do not smoke or drink alcohol while pregnant. Do not use any 
  medications without talking to your doctor. Remember that everything that you put in your body also is going into the baby’s body. 
• Seek out information about your personal risk from a geneticist if anyone in your family has a birth defect or has had a child who died or required surgery before one year of age. The same applies to someone who comes from a culture in which people marry within the extended family or someone who has had two or more pregnancy losses.
  

10. Will in vitro fertilization prevent birth defects?

No. There are some fertility treatments that can be used to avoid a particular birth defect or genetic condition, but there is never a guar- antee that a child will be normal. It has also been found that artificial reproductive techniques have a higher than normal incidence of certain problems in the baby. One of these problems is hypospadias, which is an abnormality of the penis. Another problem is called an imprinting defect. This is an abnormality in the way the early embryo manages the genetic material that can lead to some specific genetic syndromes.

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Caring For A Baby With Down Syndrome

Down Syndrome: Caring for a Baby Who Has Down Syndrome

What is Down syndrome?

Down syndrome is a genetic disorder that causes mental retardation and physical defects. It is caused by the presence of an extra copy of chromosome number 21. This condition is called trisomy 21.

How is Down syndrome diagnosed?

Before birth, tests (such as amniocentesis and chorionic villus sampling) can check the tissue and fluid in the womb for the extra chromosome. After birth, if the baby has any of the physical signs or birth defects of Down syndrome, your doctor can test the baby's blood for the extra chromosome.

What are the physical signs and birth defects of Down syndrome?

Some of the most common physical signs of Down syndrome are upward slanting eyes, flattened facial features, ears that are small or unusually shaped, broad hands with short fingers and curved "pinky" fingers and a small head. None of these physical differences cause health problems.

Some birth defects associated with Down syndrome cause more serious health problems. Babies who have Down syndrome often have poor muscle tone or problems with their heart, intestines or eyes. Intelligence ranges from low normal to very retarded (slow to learn), which can make learning and development more difficult.

How will I take care of my baby who has Down syndrome?

Just like any other newborn, you will need to feed, dress, diaper, cuddle, hold, talk to, play with and love your baby. Your baby also may have some health problems that require extra care.

What are the health problems that might affect my baby?

Some babies who have Down syndrome have poor muscle tone. This makes it harder for them to learn to roll over, sit up and walk. Physical therapy can help with these problems.

About half of babies who have Down syndrome also have a heart problem. An ultrasound exam of your baby's heart will show any defects. Surgery may be necessary to fix the heart problems associated with Down syndrome.

Some babies who have Down syndrome have problems swallowing, or they may have blockages in their intestines. Surgery may be necessary to fix these problems. Once they are fixed, they usually cause no further harm.

Some babies have eye problems, such as cataracts (cloudy lenses) or crossed eyes. Corrective lenses or surgery may be necessary to fix these problems.

Children who have Down syndrome may have colds, ear infections and sinus infections more often than other children. They are more likely to have thyroid problems, hearing loss, seizures and problems in their bones and joints. It's also common for these children to be late in teething.

Will my child be able to do the same things as other children?

In many important ways, children who have Down syndrome are very much the same as other children. They have the same moods and emotions, and they like to learn new things, play and enjoy life. You can help your child by providing as many chances as possible for him or her to do these things. Read to your child and play with him or her, just as you would any other child. Help your child to have positive experiences with new people and places.

Early intervention programs can help children who have Down syndrome develop motor, language and social skills that will give them the best chance of success.

Will my child have learning problems?

At birth, it isn't possible to tell how smart a baby who has Down syndrome will be. Intelligence ranges from low normal to very retarded (slow to learn) in people who have Down syndrome. If you keep your child physically healthy and provide therapy or treatment for his or her impairments, he or she will be better able to learn. With therapy, many children who have Down syndrome grow up to have jobs and live independently.

What other special care will my baby need?

You may need to give your baby medicine. Your doctor will probably want to check your baby often to be sure that he or she is growing well and isn't developing problems from birth defects.

Your baby may need to have physical therapy every week to help with building up muscle tone and coordination. Later on, speech therapy and occupational therapy (to help with issues such as language skills, hand-eye coordination and social skills) may be helpful for your child.

Can I breastfeed my baby?

Breastfeeding is good for all babies, including babies who have Down syndrome. Your baby may be a little slow in learning how to breastfeed, but it is possible.

When your baby is learning to breastfeed, you may find it helpful to talk with your doctor, a nurse or a therapist who has had special training. Other mothers who have breastfed babies who had Down syndrome can also give you helpful advice. Your doctor can help you find other mothers to talk to.

If I've had one baby with Down syndrome, am I at greater risk of having another?

In most cases, for every 100 couples who have another baby, 1 will have another baby with Down syndrome. If you're planning on having more children, talk with your doctor. He or she can help you decide whether to seek genetic counseling.

Since I learned my baby has Down syndrome, I've been confused and upset. What can I do?

You may feel disappointment, grief, anger, frustration, fear and anxiety about the future. These feelings are all normal. Talking to other parents of children who have Down syndrome can be helpful, because they know how you are feeling. You can also talk to your family doctor or visit a support group where you can share your feelings and get additional information. Several support groups, organizations and community resources exist to help children who have Down syndrome and their parents, siblings and other family members.

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Premature babies

About Preemies

Premature infants, known as preemies, come into the world earlier than full-term infants. Prematurity occurs when a pregnancy lasts less than 37 weeks; full-term infants are born 37 to 42 weeks after the mother's last menstrual period (LMP).

Often, the cause of preterm delivery is unknown and not within the mother's control. However, sometimes it's caused by the mother's health conditions or lifestyle choices during pregnancy, such as having diabetes mellitus, hypertension, heart or kidney problems, an infection (particularly infections involving the amniotic membranes, and genital and urinary tracts), poor nutrition during pregnancy, or bleeding due to abnormal positioning of the placenta.

Also, preterm delivery can happen due to structural abnormality or overstretching of the uterus by carrying more than one fetus (twins, triplets, or more) or using tobacco, alcohol, or illicit drugs during pregnancy. Preterm deliveries occur with greater frequency among women younger than 19 or older than 40, and among those with a previous preterm delivery.

However, any woman may have a baby prematurely, and many who do have no known causing factors.

baby in Incubator

Preemies have many special needs that make their care different from that of full-term infants, which is why they often begin their lives after delivery in a neonatal intensive care unit (NICU). The NICU is designed to provide an atmosphere that limits stress to the infant and meets basic needs of warmth, nutrition, and protection to assure proper growth and development.

Due to many recent advances, more than 90% of premature babies who weigh 800 grams or more (a little less than 2 pounds) survive. Those who weigh more than 500 grams (a little more than 1 pound) have a more than 60% chance of survival, although their chances of complications are greater.

A Preemie's Basic Needs

Warmth

Premature babies lack the body fat necessary to maintain their body temperature, even when swaddled with blankets. So incubators or radiant warmers are used to keep them warm in the NICU. Keeping babies' temperatures within a normal range will help them grow faster.

Incubators are made of transparent plastic, and completely surround babies to keep them warm, decrease the chance of infection, and limit water loss. Radiant warmers are electrically warmed beds open to the air. These are used when the medical staff needs frequent access to the baby for care. A tiny thermometer taped to the baby's skin senses his/her body temperature and regulates the heat.

Nutrition and Growth

Premature babies have special nutritional needs because they grow at a faster rate than full-term babies and their digestive systems are immature. Neonatologists (pediatricians who specialize in the care of sick full-term and preterm infants) measure their weight in grams, not pounds and ounces. Full-term babies usually weigh more than 2,500 grams (about 5 pounds, 8 ounces), whereas premature babies weigh anywhere from about 500 to 2,500 grams.

So, what are premature babies fed? Breast milk is an excellent source of nutrition, but premature infants are too immature to feed directly from the breast or bottle until they're 32 to 34 weeks gestational age. Most premature infants have to be fed slowly because of the risk of developing necrotizing enterocolitis (NEC), an intestinal infection unique to preemies. Breast milk can be pumped by the mother and fed to the premature baby through a tube that goes from the baby's nose or mouth into the stomach.

Breast milk has an advantage over formula because it contains proteins that help fight infection and promote growth. Special fortifiers may be added to breast milk (or to formula if breastfeeding isn't desired), because premature infants have higher vitamin and mineral needs than full-term infants.

Nearly all premature babies receive additional calcium and phosphorus either by adding fortifier to breast milk or directly through special formulas for preemies. The baby's blood chemicals and minerals, such as blood glucose (sugar), salt, potassium, calcium, phosphate, and magnesium, are monitored regularly, and the baby's diet is adjusted to keep these substances within a normal range.

Common Health Problems of Preemies

Premature infants are prone to a number of problems, mostly because their internal organs aren't completely ready to function on their own. In general, the more premature the infant, the higher the risk of complications.

Hyperbilirubinemia

A common treatable condition of premature babies is hyperbilirubinemia, which affects 80% of premature infants. Infants with hyperbilirubinemia have high levels of bilirubin, a compound that results from the natural breakdown of blood. This high level of bilirubin causes them to develop jaundice, a yellow discoloration of the skin and whites of the eyes.

Although mild jaundice is fairly common in full-term babies (about 60%), it's much more common in premature babies. Extremely high levels of bilirubin can cause brain damage, so premature infants are monitored for jaundice and treated quickly, before bilirubin reaches dangerous levels. Jaundiced infants are placed under special blue lights that help the body eliminate bilirubin. Rarely, blood exchange transfusions are used to treat severe jaundice.

Apnea

Apnea is another common health problem among premature babies. During an apnea spell, a baby stops breathing, the heart rate may decrease, and the skin may turn pale, purplish, or blue. Apnea is usually caused by immaturity in the area of the brain that controls the drive to breathe. Almost all babies born at 30 weeks or less will experience apnea. Apnea spells become less frequent with age.

In the NICU, all premature babies are monitored for apnea spells. Treating apnea can be as simple as gently stimulating the infant to restart breathing. However, when apnea occurs frequently, the infant may require medication (most commonly caffeine) and/or a special nasal device that blows a steady stream of air into the airways to keep them open.

Anemia

Many premature infants lack the number of red blood cells (RBCs) necessary to carry adequate oxygen to the body. This complication, called anemia, is easily diagnosed using laboratory tests. These tests can determine the severity of the anemia and the number of new red blood cells being produced. Preemies may develop anemia for a number of reasons. In the first few weeks of life, infants don't make many new RBCs. Also, an infant's red blood cells have a shorter life than an adult's. And the frequent blood samples that must be taken for laboratory testing make it difficult for RBCs to replenish. Some premature infants, especially those who weigh less than 1,000 grams, require red blood cell transfusions.

More Common Health Problems

Low Blood Pressure

Low blood pressure is a relatively common complication that may occur shortly after birth. It can be due to infection, blood loss, fluid loss, or medications given to the mother before delivery.It's treated by increasing fluid intake or prescribing medications. Infants who have low blood pressure due to blood loss may need a blood transfusion.

Respiratory Distress Syndrome

One of the most common and immediate problems facing premature infants is difficulty breathing. Many things can cause breathing difficulties in premature infants, but the most common is called respiratory distress syndrome (RDS). In RDS, the infant's immature lungs don't produce enough of an important substance called surfactant. Surfactant allows the inner surface of the lungs to expand properly when the infant makes the change from the womb to breathing air after birth. Fortunately, RDS is treatable and many infants do quite well. When premature delivery can't be stopped, most pregnant women can be given medication just before delivery to hasten the production of surfactant in the infant's lungs and help prevent RDS. Then, immediately after birth and several times later, surfactant can be given to the infant if needed. Although most premature babies who lack surfactant will require a breathing machine, or ventilator, for a while, the use of surfactant has greatly decreased the amount of time that infants spend on the ventilator.

Bronchopulmonary Dysplasia

Bronchopulmonary dysplasia (BPD), or chronic lung disease, is a common lung problem among preemies, especially those weighing less than 1,000 grams (2.2 pounds) at birth. The exact mechanism for this disease is still unclear, but extreme prematurity, severe RDS, infections before and after birth, and the prolonged use of oxygen and/or a ventilator needed to treat a lung disease all play a major role in the development of BPD. Preemies are often treated with medication and oxygen for this condition. The lungs of those babies usually improve over the first 2 years of life, but many of them continue to have asthma-like symptoms.

Infection

Infection is a big threat to preemies because they're less able than full-term infants to fight germs that can cause serious illness. Infections can come from the mother before birth, during the process of birth, or after birth. Practically any body part can become infected. Reducing the risk of infection is why frequent hand washing is necessary in the NICU. Bacterial infections can be treated with antibiotics. Other medications are prescribed to treat viral and fungal infections.

Patent Ductus Arteriosus

The ductus arteriosus is a blood vessel that is an essential part of fetal blood circulation, allowing blood to bypass the lungs, because oxygen for the blood comes from the mother and not from breathing air.

In full-term babies, the ductus arteriosus closes shortly after birth, but it frequently stays open in premature babies. When this happens, excess blood flows into the lungs and can cause breathing difficulties and sometimes heart failure.

Patent ductus arteriosus (PDA) is often treated with a medication called indomethacin or ibuprofen, which is successful in closing the ductus arteriosus in more than 80% of infants requiring these medications. However, if medical therapy fails, then surgery may be required to clamp the ductus.

Retinopathy of Prematurity

The eyes of premature infants are especially vulnerable to injury after birth. A serious complication is retinopathy of prematurity (ROP), which is abnormal growth of the blood vessels in an infant's eye. About 7% of babies weighing 1,250 grams (2.75 pounds) or less at birth develop ROP, and the resulting damage may range from mild (the need for glasses) to severe (blindness).

The cause of ROP in premature infants is unknown. Although it was previously thought that too much oxygen was the primary problem, further research has shown that oxygen levels (either too low or too high) play only a contributing factor in the development of ROP. Premature babies receive eye exams in the NICU to check for ROP.

After the NICU

Preemies often require special care after leaving the NICU, sometimes in a high-risk newborn clinic or early intervention program. In addition to the regular well-child visits and immunizations that all infants receive, premature infants receive periodic hearing and eye examinations.

Careful attention is paid to the development of the nervous system, including the achievement of motor skills like smiling, sitting, and walking, as well as the positioning and tone of the muscles.

Speech and behavioral development are also important areas during follow-up. Some premature infants may require speech therapy or physical therapy as they grow up. Infants who have experienced complications in the NICU may need additional care by medical specialists.

Also important is support of the family. Caring for a premature infant is even more demanding than caring for a full-term infant, and the high-risk clinics pay special attention to the needs of the family as a whole.

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Learn what birth defects are, what causes them and, how you can prevent them.

Birth Defects

• What are birth defects?
• What causes birth defects?
• What are the different types of birth defects?
• What are the treatments for birth defects?

What are birth defects?

Birth defects are structural or functional abnormalities present at birth that cause physical or mental disability. Some may be fatal.

Researchers have identified thousands of different birth defects. Currently, birth defects are the leading cause of death for infants during the first year of life.

What causes birth defects?

Birth defects have a variety of causes, such as:

Genetic problems caused when one or more genes doesn't work properly or part of a gene is missing

Problems with chromosomes, such as having an extra chromosome or missing part of a chromosome

Environmental factors that a woman is exposed to during pregnancy, such as rubella or German measles while pregnant, or using drugs or alcohol during pregnancy.

What are the different types of birth defects?

There are two main types of birth defects: structural and functional/developmental.

Structural birth defects are related to a problem with body parts. Some physical problems include cleft lip or cleft palate, heart defects, such as missing or misshaped valves, and abnormal limbs, such as a club foot. They also include neural tube defects, such as spina bifida, problems that are related to the growth and development of the brain and spinal cord.

Functional birth defects are related to a problem with how a body part or body system works. These problems often lead to developmental disabilities and can include things such as:

Nervous system or brain problems - such as learning disabilities, mental retardation, behavioral disorders, speech or language difficulties, convulsions, and movement trouble. Some examples of birth defects that affect the nervous system include Autism, Down syndrome, Prader-Willi syndrome, and Fragile X syndrome.

Sensory problems - such as blindness, cataracts and other visual problems, and varying degrees of hearing loss including deafness

Metabolic disorders - involve a body process or chemical pathway or reaction, such as conditions that limit the body's ability to get rid of waste materials or harmful chemicals. Two common metabolic disorders are phenylketonuria (PKU) and hypothyroidism.

Degenerative disorders--are conditions that might not be obvious at birth, but cause one or more aspects of health to steadily get worse. For example, X-linked adrenoleukodystrophy (X-ALD), which was the focus of the movie Lorenzo's Oil, Rett syndrome, muscular dystrophy, and lysosomal disorders are examples of degenerative disorders.

In some cases, birth defects are caused by a combination of factors. Some recognized patterns of birth defects affect many parts or processes in the body, leading to both structural and functional problems.

What are the treatments for birth defects?

Treatments for birth defects vary by disorder. Talk to your health care provider for more information about treatments for birth defects.

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