Congenital Defect Repair

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Congenital Defect Repair

Most babies are born healthy, but when a baby has a condition that is present from birth, it is called a congenital disorder. Congenital disorders can be inherited or caused by environmental factors and their impact on a child’s health and development can vary from mild to severe. A child with a congenital disorder may experience a disability or health problems throughout life.

Some congenital disorders are:

  • Cleft lip and cleft palate
  • Cerebral palsy
  • Fragile X syndrome
  • Down syndrome
  • Spina bifida
  • Cystic fibrosis
  • Heart conditions

Heart Conditions

Your child's doctor may initially suspect a problem because he or she hears a heart murmur during a routine exam. A heart murmur is a sound that occurs when blood flows through the heart or blood vessels fast enough to make a sound that a doctor can hear with a stethoscope.

Most heart murmurs are innocent, meaning that there is no heart defect and the murmur isn’t dangerous to your child’s health. Some murmurs, however, may mean blood is flowing through your child’s heart abnormally because he or she has a heart defect.

Tests to diagnose a congenital heart defect

If it’s possible your child has a heart defect, your doctor or your child’s doctor may order several tests to see if your child has a heart problem. In addition to a regular physical exam, these could include:

  • Fetal echocardiogram. This test allows your doctor to see if your child has a heart defect before he or she is born, allowing your doctor to better plan treatment. In this test, your doctor performs an ultrasound. The sound waves from the ultrasound are used to create a picture of your baby’s heart.
  • Echocardiogram. Your child’s doctor may use a regular echocardiogram to diagnose a congenital heart defect after your child has been born.In this noninvasive test, your child’s doctor performs an ultrasound to produce images of the heart. An echocardiogram allows the doctor to see your child’s heart in motion and to identify abnormalities in the heart muscle and valves.
  • Electrocardiogram. This noninvasive test records the electrical activity of your child’s heart and can help diagnose heart defects or rhythm problems. Electrodes connected to a computer and printer are placed on your baby’s chest and show waves that indicate how your child’s heart is beating.
  • Chest X-ray. Your child may have a chest X-ray to see if the heart is enlarged, or if the lungs have extra blood or other fluid in them. These could be signs of heart failure.
  • Pulse oximetry. This test measures how much oxygen is in your child’s blood. A sensor is placed over the end of your child’s finger to record the amount of oxygen in your child’s blood. Too little oxygen could suggest your child has a heart problem.
  • Cardiac catheterization. In this test, a thin, flexible tube (catheter) is inserted into a blood vessel at your baby’s groin and guided through it into the heart.Catheterization is sometimes necessary because it may give your child’s doctor a much more detailed view of your child’s heart defect than an echocardiogram. In addition, some treatment procedures can be done during cardiac catheterization.
  • Cardiovascular magnetic resonance imaging (MRI). This type of imaging is becoming increasingly used to diagnose and evaluate congenital heart defects in adolescents and adults. Newer MRI technology provides faster imaging and higher resolution than other methods, such as echocardiography.

Treatment

A congenital heart defect may have no long-term effect on your child’s health — in some instances, such defects can safely go untreated. Certain defects, such as small holes, may even correct themselves as your child ages.

Some heart defects, however, are serious and require treatment soon after they’re found. Depending on the type of heart defect your child has, doctors treat congenital heart defects with:

  • Procedures using catheterization. Some children and adults now have their congenital heart defects repaired using catheterization techniques, which allow the repair to be done without surgically opening the chest and heart. Catheter procedures can often be used to fix holes or areas of narrowing.In procedures that can be done using catheterization, the doctor inserts a thin tube (catheter) into a leg vein and guides it to the heart with the help of X-ray images. Once the catheter is positioned at the site of the defect, tiny tools are threaded through the catheter to the heart to repair the defect.
  • Open-heart surgery. Depending on your child’s condition, he or she may need surgery to repair the defect. Many congenital heart defects are corrected using open-heart surgery. In open-heart surgery, the chest has to be opened.In some cases, minimally invasive heart surgery may be an option. This type of surgery involves making small incisions between the ribs and inserting instruments through them to repair the defect.
  • Heart transplant. If a serious heart defect can’t be repaired, a heart transplant may be an option.
  • Medications. Some mild congenital heart defects, especially those found later in childhood or adulthood, can be treated with medications that help the heart work more efficiently.Drugs known as angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs) and beta blockers and medications that cause fluid loss (diuretics) can help ease stress on the heart by lowering blood pressure, heart rate and the amount of fluid in the chest. Certain medications can also be prescribed to help irregular heartbeats (arrhythmias).

Sometimes, a combination of treatments is necessary. In addition, some catheter or surgical procedures have to be done in steps, over a period of years. Others may need to be repeated as a child grows.

Long-term treatment

Some children with congenital heart defects require multiple procedures and surgeries throughout life. Although the outcomes for children with heart defects have improved dramatically, most people, except those with very simple defects, will require ongoing care, even after corrective surgery.

  • Lifelong monitoring and treatment. Even if your child has surgery to treat a heart defect, your child’s condition will need to be monitored for the rest of his or her life.Initially, your child with a congenital heart defect will be monitored and have regular follow-up appointments with a pediatric cardiologist. As your child grows older, his or her care will transition to an adult congenital cardiologist, who can monitor his or her condition over time. A congenital heart defect can affect your child’s adult life, as it can contribute to other health problems. Adults who have congenital heart defects may need other treatments for their condition.As your child ages, it’s important to remind him or her of the heart condition that was corrected and the need for ongoing, lifelong care by doctors experienced in evaluating and treating congenital heart disease. Encourage your child to keep his or her doctor informed about the heart defect and the procedures performed to treat the problem.
  • Exercise restrictions. Parents of children with congenital heart defects may worry about the risks of rough play and activity even after treatment. Although some children may need to limit the amount or type of exercise, many can participate in normal or near-normal activity.Your child’s doctor can tell you which activities are safe for your child. If some activities do pose distinct dangers, encourage your child to participate in other activities instead of focusing on what he or she can’t do. Although every child is different, most children with congenital heart defects grow up to lead healthy, productive lives.
  • Infection prevention. Depending on the type of congenital heart defect your child had, and the surgery used to correct it, your child may need to take extra steps to prevent infection.Sometimes, a congenital heart defect can increase the risk of infections — either in the lining of the heart or heart valves (infective endocarditis). Because of this risk, your child may need to take antibiotics to prevent infection before additional surgeries or dental procedures.Children who are most likely to have a higher risk of infection include those whose defect was repaired with a prosthetic material or device, such as an artificial heart valve.Ask your child’s cardiologist if preventive antibiotics are necessary for your child.

Cleft Lip and Cleft Palate

Cleft lip and cleft palate are congenital defects, which means they happen during the development of the fetus and are present at birth. A cleft lip is a notch in the upper lip, which can vary in size. A cleft palate is a hole in the roof of the mouth.

Cleft lip occurs in about 1 in every 1,000 births. Cleft palate occurs in about 1 in every 2,500 births. Overall, about 1 in 800 births are affected by cleft lip and/or cleft palate.

The face and upper lip develop during the 5th to 9th weeks of pregnancy. Most cleft problems can either be picked up at the routine 20-week scan or soon after birth. However, a submucous cleft, where the cleft is hidden in the lining of the roof of the mouth, may not be detected for months or even years.

A cleft can lead to feeding, speech and hearing problems, ear infections, dental decay, jaw development problems and psychosocial issues.

What causes cleft lip and cleft palate?

We don’t know exactly what causes cleft lips and cleft palates. Sometimes it can happen when there is a family history of the condition. However, sometimes a child is born with the condition when there is no family history and no known cause of the condition. This is called ‘sporadic’.

Cleft lips and/or palates cannot be prevented. Current research shows that what parents do during pregnancy has no effect on whether a child will be born with the condition.

Symptoms of cleft lip and cleft palate

Cleft lips and cleft palates can occur separately, but they often occur together, sometimes in association with other problems. Usually, only soft tissues are affected. Occasionally bone can be involved, causing deformity of the nose as well.

Cleft lips and/or palates vary in severity. They range from a small notch in the upper lip to a gaping defect of the lip and palate, and sometimes the nose. When someone has a cleft palate, the hole in the roof of their mouth creates a connection between the mouth and the nose.

Babies with cleft lip and/or cleft palate will have significant trouble feeding. This is because they find it difficult or impossible to suck, even though they have no problems swallowing.

Children with cleft palate are more likely to have hearing problems and fluid in the middle ear, and they may also have speech problems, such as difficulty in pronouncing consonants.

Other than this, babies with cleft lips and/or palates are usually normal children.

Treatment for cleft lip and cleft palate

The treatment used for cleft lips and/or palates will depend on their severity.

Initially the baby is fed with a special spout, or elongated teat, which delivers milk to the back of the throat.

Surgery is always necessary, and the type, extent and number of operations will depend on the degree of deformity. The lip is usually repaired when the baby is 3 to 6 months old, and the palate at around 9 to 12 months, before the child starts to speak. Occasionally minor corrections are made before the child starts school.

The cosmetic results with cleft lips alone are usually excellent. Speech therapy can help enormously in correcting nasal-sounding speech in the case of a cleft palate. Regular follow-up appointments with a doctor are essential because children with cleft lips and/or palates are more prone to ear infections and other problems. Every baby with a cleft palate needs to have their hearing monitored closely by a hearing specialist (audiologist).

Cerebral Palsy

Cerebral palsy is a condition in which the ability to control muscles is reduced due to nervous system damage before, during or after birth. This nervous system damage affects body movement and posture. It often shows up as either floppy or stiff muscles, or involuntary muscle movements.

Cerebral palsy can affect movement, coordination, muscle tone and posture. It can also be associated with impaired vision, hearing, speech, eating and learning.

Children with cerebral palsy tend to miss developmental milestones such as crawling, walking and talking. Usually, a confirmed diagnosis of cerebral palsy is made by the time a child is 2.

If you think your child is showing some of the symptoms of cerebral palsy, or their development may be delayed, see your early childhood nurse or doctor.

Cerebral palsy occurs when there is damage to the developing brain in the area that controls muscle tone (the motor cortex). In some cases, the motor cortex fails to develop normally in the fetus.

Depending on the damage, cerebral palsy affects people in different ways and to different extents.

Risk factors for cerebral palsy can be:

  • prematurity and low birth weight
  • some pregnancy complications
  • an infection caught by the mother during pregnancy
  • prolonged loss of oxygen during pregnancy or childbirth, or severe jaundice after birth
  • injury or bleeding in the baby’s brain
  • mutations in the genes that affect the brain’s development
  • being a twin, triplet or other multiple birth

The cause remains unknown for most babies with cerebral palsy. There is no single cause of cerebral palsy.

The damage to the brain does not worsen with age, but it’s permanent. There is no cure. Life expectancy is normal, but the effects of cerebral palsy can cause stress to the body and premature ageing.

There are 4 main types of cerebral palsy:

  • spastic, in which the muscles are weak and stiff
  • dyskinetic, characterised by writhing or jerky movements
  • ataxic, in which movement is affected by problems with balance and coordination
  • mixed, with a range of the above characteristics

Fragile X Syndrome

Fragile X syndrome is an inherited, life-long condition that can cause a range of problems. Early diagnosis and treatment can help those affected to reach their full potential.

What is Fragile X syndrome?

People with Fragile X syndrome (or Fragile X) have intellectual disability, behavioural and learning challenges as well as certain physical characteristics. Fragile X is the most common inherited cause of intellectual disability, and also the most common known genetic cause of autism. It affects around one in 3600 males and around one in 6000 females.

Fragile X is caused by a change in a single gene, the FMR-1 gene. This gene helps create a protein that is needed for healthy brain development.

Types of Fragile X syndrome

Depending on how a person’s FMR1 gene has been changed by the Fragile X mutation, they are said to either have the full mutation, or a pre-mutation.

People with the full mutation show symptoms of Fragile X. People with the pre-mutation may not show any symptoms, but are carriers of Fragile X.

Symptoms or signs of Fragile X syndrome

Fragile X can affect people differently. Girls and women are usually less affected than boys and men. A person may be fully affected by Fragile X but not show all of these signs below:

  • intellectual disability, slow development and difficulties with communication, coordination, motor skills and learning
  • behavioural and emotional features such as aggression, anxiety, shyness and repetitive speech
  • physical symptoms such as weak muscles and joints, a heart murmur and a high palate

Fragile X syndrome diagnosis

A diagnosis of Fragile X can be made at any age, by doing a blood test. This test can show whether or not you are affected by Fragile X, and whether or not you are a genetic carrier.

If you or your partner have Fragile X or are a carrier, and are expecting a baby, you might be able to get a pre-natal test to find out whether your baby will be affected.

Visit Pregnancy, Birth and Baby website for more information about Fragile X and babies.

Carriers of Fragile X

Carriers of Fragile X might develop certain health conditions later in life, such as:

  • Fragile X tremor ataxia syndrome, or FXTAS, which causes a tremor and mainly affects men over 50 years
  • Fragile X primary ovarian insufficiency, or FXPOI, which can cause infertility and early menopause in women

Living with Fragile X syndrome

Although there is no cure for Fragile X, treatments (including some medications) can help improve quality of life, especially if received early on. Ideally, each person with Fragile X will be cared for by a multidisciplinary team of health professionals.

Where to go for help

The Fragile X Association of Australia provides support to families living with Fragile X syndrome. This includes specialised clinics, workshops, genetic counselling and casework.

Down Syndrome

Pregnant women are routinely offered screening to see if their baby is at increased risk of Down syndrome and other conditions. If your baby is at increased risk, you will be offered further tests to make a definitive diagnosis.

Why test for Down syndrome?

About 1 in 1,100 babies in Australia is born with Down syndrome. This is a genetic condition resulting in some level of intellectual disability, a distinct appearance, and some health and developmental challenges.

In each cell of the human body, there are 23 pairs of chromosomes. Down syndrome occurs when a baby is born with an extra copy of chromosome 21 in their cells (Down syndrome is also called ‘trisomy 21’). This occurs randomly at the time of conception.

There are two types of prenatal tests for Down syndrome:

  • Screening tests: These do not give you a definitive answer, but let you know if your baby is at increased risk of Down syndrome. Screening tests do not harm the mother or baby.
  • Diagnostics test: These are very accurate, giving you a definitive answer. Diagnostic tests are usually offered to women whose babies are at increased risk, based on the result of the screening tests. A diagnostic test can increase your risk of having a miscarriage, so they aren’t routinely offered to all women.

You don’t have to undergo any tests if you don’t want to. If you have a screening test that shows your baby is at increased risk of Down syndrome, you don’t have to proceed to the diagnostic test. You and your family need to decide what is best for you, and you can discuss this with your doctor, midwife or a genetic counsellor.

Screening tests

There are 3 types of screening test for Down syndrome: the combined first trimester screening, the non-invasive prenatal testing (NIPT), and the second trimester maternal serum screening.

Combined first trimester screening

The combined first trimester screening test is done between 9 weeks and 13 weeks (plus 6 days) into the pregnancy to calculate the risk of a number of abnormalities, including Down syndrome. It is safe for both mother and baby. There will be a cost, but you can claim some of it back from Medicare.

A computer is used to combine results from 2 tests:

  • A blood test, done between 9 and 12 weeks into the pregnancy, looks for hormonal changes that can suggest there is a problem with the baby’s chromosomes.
  • An ultrasound scan, done at 12 to 13 weeks into the pregnancy, measures the thickness of fluid behind the baby’s neck, called the nuchal translucency. This is often larger in babies with Down syndrome.

These results, combined with the mother’s age, show the risk of Down syndrome. If the baby is at increased risk, you will be offered a diagnostic test, which is optional, to confirm whether or not the baby has Down syndrome.

Non-invasive prenatal testing

The non-invasive prenatal test (or NIPT, and sometimes called by brand names such as Harmony or Percept) is a newer, very sensitive form of screening for Down syndrome. It involves a simple blood test that analyses DNA from the baby that has passed into the mother’s bloodstream. The test is done after 10 weeks and is more than 99% accurate for Down syndrome.

NIPT tests are only done in private clinics and are not covered by Medicare. This type of test is most suitable for women who are at increased risk of having a baby with Down syndrome.

Second trimester maternal serum screening

Second trimester screening, sometimes called a maternal serum screen (MSS) or ‘triple test’, is done between 14 and 18 weeks into the pregnancy. It is usually offered to women who missed the combined first trimester screening test, or if it was not available where they were living.

It involves a blood test to look for hormones that could indicate the baby has Down syndrome or a neural tube defect. There will be a cost, but you can claim some of it back from Medicare.

If your baby is at increased risk, you will be offered a diagnostic test, which is optional, to confirm whether or not the baby has Down syndrome.

In addition to the MSS test, most pregnant women have a morphology scan (also known as an anomaly scan) at 19 to 20 weeks into the pregnancy to check on the baby’s growth and to see how the pregnancy is progressing. This can sometimes show signs of Down syndrome.

Diagnostic tests

The only way of knowing for sure whether your baby has Down syndrome is to have a diagnostic test. Diagnostic tests increase your risk of having a miscarriage, so they are usually only offered to women at increased risk, women who’ve had previous babies with genetic abnormalities and women with a family history of a genetic condition.

Two tests can confirm Down syndrome:

  • Chorionic villus sampling (CVS): A needle, guided by ultrasound, is inserted through the mother’s abdomen to take a sample of cells from the placenta. These are tested for missing, extra or abnormal chromosomes. The procedure is done between 11 and 14 weeks of pregnancy. It is not painful and takes about 20 minutes. The risk of miscarriage is less than 1 in 100.
  • Amniocentesis: A needle, guided by ultrasound, is inserted into the mother’s abdomen, to take a sample of amniotic fluid. This is tested for missing, extra or abnormal chromosomes. This procedure is done between 15 and 18 weeks of pregnancy. It is not painful and takes about 20 minutes. The risk of miscarriage is also less than 1 in 100.

You will receive the results a few days after the test. Your doctor will explain the results, and you may be offered genetic counselling.

What to do with your results

It’s always difficult when you’re told that something is wrong with your baby, especially if you’re faced with a painful decision about the future of your pregnancy.

Your midwife or doctor will make sure you see the appropriate health professionals, such as a genetic counsellor, to help you get all the information and support you need to make the right choice for you and your family.

If the result is positive, you can choose to end the pregnancy, keep the baby, or place the baby for adoption.

Consider how you would care for a child with Down syndrome and how this would affect your family. Thankfully, the outlook for people with Down syndrome is usually very good. For more information about living and raising a child with Down syndrome, visit the Down Syndrome Australia website.

Where to go for more information

  • Speak to your local state or territory Down syndrome support organisation by calling 1300 881 935 or visiting the Down Syndrome Australia website.
  • Read more about caring for a child with Down syndrome.
  • Visit this page for questions to ask your doctor about tests and scans.
  • You can also call Pregnancy, Birth and Baby on 1800 882 436 to speak with a maternal child health nurse, 7 days a week, 7am to midnight (AET).

Spina Bifida

Neural tube defects are abnormalities that occur in the development of the spinal cord and brain of some babies. The most common defects are spina bifida (abnormal development of part of the spine and spinal cord) and anencephaly (severely abnormal development of the brain).

What are neural tube defects?

During the first month of life, an embryo (developing baby) grows a primitive tissue structure called the ‘neural tube’. As the embryo develops, the neural tube begins to change into a more complicated structure of bones, tissue and nerves that will eventually form the spine and nervous system.

However, in cases of spina bifida, something goes wrong with the development of the neural tube and the spinal column (the ridge of bone that surrounds and protects the nerves) does not fully close. Spina bifida is a Latin term that means ‘split spine’.

The chance that a pregnancy will be affected by a neural tube defect is less than one in 1,000.

What causes neural tube defects?

The cause of neural tube defects is not certain but it appears to be due to a combination of genetic and environmental factors.

Women are at increased risk of having a baby with a neural tube defect if:

  • they have already had a baby with a neural tube defect
  • they or their partner have a close relative born with a neural tube defect
  • they have type 1 (insulin dependent) diabetes (not gestational diabetes)
  • they are obese, or take certain anti-epileptic medications, especially those containing sodium valproate or valproic acid

Prevention

About 2 thirds of neural tube defects can be prevented through increasing folate (folic acid) intake at least a month before pregnancy and during the first 3 months of pregnancy. Adequate folate levels are critical during the early days of the developing embryo, particularly the 3rd and 4th week, the period in which neural tube defects occur and when many women won’t know they are pregnant.

You can increase your folate intake by eating folate-rich foods, including folate-fortified foods in your daily diet, or by taking a folic acid supplement. Good sources of folate include green leafy vegetables, fruit (citrus, berries and bananas), legumes and some cereals (bread and many breakfast cereals now have added folate).

Women who take medicines to control epilepsy, seizures or psychiatric disorders should talk to their doctor before taking folate because it can interfere with how their medications work.

Diagnosis

Neural tube defects may be diagnosed during the ultrasound scan that is carried out around week 12 of the pregnancy or, more likely, during the anomaly scan that is carried out at around weeks 19 to 20.

Ultrasound scans

An ultrasound scan is a safe procedure that uses sound waves to create an image of the inside of your body. Most hospitals will offer women at least 2 ultrasound scans during their pregnancy. The first is usually at around 8 to 14 weeks and is sometimes called the ‘dating scan’ because it can help to determine when the baby is due. This first scan may be able to detect problems with your baby’s spine that could indicate spina bifida if the condition is severe.

Anomaly scan

The anomaly scan is an ultrasound scan that is carried out around weeks 19 to 20 of your pregnancy. This scan aims to identify any physical problems with your baby. It is usually during this scan that spina bifida is diagnosed.

Coping with the results

If tests confirm that your baby has spina bifida, the implications will be fully discussed with you. You will need to consider your options carefully. Your options are to:

  • continue with your pregnancy while getting information and advice so that you are prepared for caring for your baby
  • end your pregnancy

If you are considering ending your pregnancy, you should talk to your doctor or midwife. They will be able to provide you with important information and advice.

Your options for ending your pregnancy will depend on how many weeks pregnant you are when you make the decision. If you decide to end your pregnancy, you may wish to talk to a counsellor afterwards. Your doctor or midwife will be able to arrange this for you.

Cystic Fibrosis

Cystic fibrosis is a genetic disease that mostly affects the lungs and digestive system. It results from a fault in a particular gene. As a result, the mucus produced by the lungs and intestines to be thick and sticky.

Both parents must carry the faulty cystic fibrosis gene for the disease to be passed to their child.

Cystic fibrosis is usually detected in newborn babies through a neonatal screening test, known as the heel prick test.

This free test involves pricking the heel of the baby to gain a tiny blood sample and detects up to 95% of babies with cystic fibrosis.

If a baby has a positive heel prick test, it should then have a sweat test at about 6 weeks old to see if it either has the disorder, or is a healthy carrier of the faulty gene.

Adults who have cystic fibrosis in their family can talk to a gene expert and have blood tests to see if they carry the gene for cystic fibrosis.

Most people with cystic fibrosis have:

  • chest problems such as cough, wheeze and recurrent chest infections
  • digestive problems and bulky, fatty stools
  • very salty sweat

They may also have lung damage, malnutrition, poor growth and diabetes. Almost all men and most women with cystic fibrosis are infertile.

The lives of people with cystic fibrosis are usually shortened by the disorder, but they can lead happy and productive lives well into middle age.

While cystic fibrosis cannot be cured, physiotherapy and many other treatments are available to improve quality of life and reduce complications.

Frequently Asked Questions

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