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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:
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.
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:
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:
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.
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.
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.
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.
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.
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 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:
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:
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.
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.
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.
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:
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 might develop certain health conditions later in life, such as:
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.
The Fragile X Association of Australia provides support to families living with Fragile X syndrome. This includes specialised clinics, workshops, genetic counselling and casework.
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.
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:
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.
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.
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:
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.
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 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.
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:
You will receive the results a few days after the test. Your doctor will explain the results, and you may be offered genetic counselling.
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.
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).
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.
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:
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.
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.
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.
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.
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:
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 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:
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.
The roof of the mouth (palate) is formed between the sixth and ninth weeks of pregnancy. A cleft palate happens if the tissue that makes up the roof of the mouth does not join together completely during pregnancy. For some babies, both the front and back parts of the palate are open. For other babies, only part of the palate is open.
Yes! Babies can have a Cleft Lip without a Cleft Palate and can also have a Cleft Palate without a Cleft Lip.
The causes of a cleft lip and palate among most infants are unknown. Some children have a cleft lip or cleft palate because of changes in their genes. Cleft lip and cleft palate are thought to be caused by a combination of genes and other factors, such as things the mother comes in contact with in her environment, or what the mother eats or drinks, or certain medications she uses during pregnancy. Recent studies have shown that mothers who smoke, have diabetes or use certain medicines have an increased chance of having a baby with a Cleft lip and palate.
Orofacial clefts, especially cleft lip with or without cleft palate, can be diagnosed during pregnancy by a routine ultrasound. They can also be diagnosed after the baby is born, especially cleft palate. However, sometimes certain types of cleft palate (for example, submucous cleft palate and bifid uvula) might not be diagnosed until later in life.
1 in every 600 births in the world and 1 in every 700 births in the United States. Cleft Lip and Palate is actually the most common birth defect in the United States.
Services and treatment for children with orofacial clefts can vary depending on the severity of the cleft; the child’s age and needs; and the presence of associated syndromes or other birth defects, or both. Surgery to repair a cleft lip usually occurs in the first few months of life and is recommended within the first 12 months of life. Surgery to repair a cleft palate is recommended within the first 18 months of life or earlier if possible. Many children will need additional surgical procedures as they get older. Surgical repair can improve the look and appearance of a child’s face and might also improve breathing, hearing, and speech and language development. Children born with a cleft lip and/or palate might need other types of treatments and services, such as special dental or orthodontic care or speech therapy.
Yes. Babies with just a cleft lip don’t usually have feeding problems. But when the palate is involved, feeding can be a bigger challenge. Normally, the palate prevents food and liquids from entering the nose. A cleft palate causes babies to swallow a lot of air and regurgitate food into the nose. It also makes it harder for babies to latch on and suck during breastfeeding or bottle feeding. As a result, a baby with a cleft palate may need a special nipple and bottle to receive pumped breast milk or formula. Breastfeeding moms might want to talk with a lactation consultant, who can offer more guidance and suggestions. Babies with feeding issues should be seen regularly by a doctor to make sure that they’re gaining weight well. Many children with cleft palate are at risk for fluid buildup in the middle ear. This fluid can’t pass through the Eustachian tube as it should, which can lead to ear infections and even hearing loss. So kids with cleft palate usually need ear tubes placed in their eardrums to help drain the fluid and improve hearing. Kids with cleft palate should have their ears and hearing checked once or twice a year, or more if they are having hearing problems. Children with a cleft lip and palate often have dental problems. These can include small teeth, missing teeth, extra teeth (called supernumerary), or teeth that are out of position. They may have a defect in the gums or alveolar ridge (the bone that supports the teeth). Ridge defects can displace, tip, or rotate permanent teeth or prevent permanent teeth from coming in properly. Regular visits with a pediatric dentist who specializes in cleft lip and palate are important. The dentist will check a child’s mouth growth and development, identify any problems, and make treatments when needed. Kids with cleft lip have fewer speech problems than those with cleft palate. About 1 in 5 kids with cleft palate have speech problems after surgical repair. Most often, this means that a child’s voice is hypernasal (sounding like the child is talking through the nose). This happens because the palate doesn’t move well enough to prevent air from leaking out of the nose.
Cleft and craniofacial teams provide a coordinated approach to care for children with orofacial clefts. These teams usually consist of experienced and qualified physicians and health care providers from different specialties. Cleft and craniofacial teams and centers are located throughout the United States and other countries.
Though a majority cleft teams focus on patients from birth to the age of 18, most teams will do their best to help adult patients in any way the can. Moreover, we recommend contacting the closest craniofacial team to you.
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The Norwood procedure is a three-stage heart surgery to create a new functional systemic circuit in patients with hypoplastic left heart syndrome. Stage 1 of the Norwood procedure involves atrial septectomy and transection and ligation of the distal main pulmonary artery.
This procedure is performed shortly after birth. It converts the right ventricle into the main ventricle pumping blood to both the lungs and the body. The main pulmonary artery and the aorta are connected and the main pulmonary artery is cut off from the two branching pulmonary arteries that direct blood to each side of the lungs. Instead, a connection called a shunt is placed between the pulmonary arteries and the aorta to supply blood to the lungs.
This operation usually is performed about six months after the Norwood to divert half of the blood to the lungs when circulation through the lungs no longer needs as much pressure from the ventricle. The shunt to the pulmonary arteries is disconnected and the right pulmonary artery is connected directly to the superior vena cava, the vein that brings deoxygenated blood from the upper part of the body to the heart. This sends half of the deoxygenated blood directly to the lungs without going through the ventricle.
This is the third stage, usually performed about 18 to 36 months after the Glenn. It connects the inferior vena cava, the blood vessel that drains deoxygenated blood from the lower part of the body into the heart, to the pulmonary artery by creating a channel through or just outside the heart to direct blood to the pulmonary artery. At this stage, all deoxygenated blood flows passively through the lungs.
Coronary artery disease is the narrowing or blockage of the coronary arteries, usually caused by atherosclerosis. Atherosclerosis (sometimes called “hardening” or “clogging” of the arteries) is the buildup of cholesterol and fatty deposits (called plaques) on the inner walls of the arteries.
Heart disease is the leading cause of death among men and women in the United States. Coronary artery disease affects 16.5 million Americans. The American Heart Association (AHA) estimates that someone in the US has a heart attack about every 40 seconds. In addition, for patients with no risk factors for heart disease, the lifetime risk of having cardiovascular disease is 3.6% for men and less than 1% for women. Having 2 or more risk factors increase the lifetime risk of cardiovascular disease to 37.5% for men and 18.3% in women
Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped. It may affect the left ventricle, aorta, aortic valve, or mitral valve.
Without surgery, hypoplastic left heart syndrome is fatal, usually within the first few weeks of life. With treatment, many babies survive, although most will have complications later in life.
Open-heart surgery is any type of surgery where the chest is cut open and surgery is performed on the muscles, valves, or arteries of the heart.
According to the National Heart, Lung, and Blood Institute (NHLBI)Trusted Source, coronary artery bypass grafting (CABG) is the most common type of heart surgery done on adults. During this surgery, a healthy artery or vein is grafted (attached) to a blocked coronary artery. This allows the grafted artery to “bypass” the blocked artery and bring fresh blood to the heart.
Open-heart surgery is sometimes called traditional heart surgery. Today, many new heart procedures can be performed with only small incisions, not wide openings. Therefore, the term “open-heart surgery” can be misleading.
Open heart surgery may be done to perform a CABG. A coronary artery bypass graft may be necessary for people with coronary heart disease.
Coronary heart disease occurs when the blood vessels that provide blood and oxygen to the heart muscle become narrow and hard. This is often called “hardening of the arteries.”
Hardening occurs when fatty material forms a plaque on the walls of the coronary arteries. This plaque narrows the arteries, making it difficult for blood to get through. When blood can’t flow properly to the heart, a heart attack may occur.
Open heart surgery is also done to:
Tetralogy of Fallot. Tetralogy of Fallot is a combination of four congenital abnormalities. The four defects include a ventricular septal defect (VSD), pulmonary valve stenosis, a misplaced aorta and a thickened right ventricular wall (right ventricular hypertrophy)
These defects, which affect the structure of the heart, cause oxygen-poor blood to flow out of the heart and to the rest of the body. Infants and children with tetralogy of Fallot usually have blue-tinged skin because their blood doesn’t carry enough oxygen.
Tetralogy of Fallot is often diagnosed during infancy or soon after. However, tetralogy of Fallot might not be detected until later in life in some adults, depending on the severity of the defects and symptoms.
With early diagnosis followed by appropriate surgical treatment, most children and adults who have tetralogy of Fallot live relatively normal lives, though they’ll need regular medical care throughout life and might have restrictions on exercise.
Tetralogy of Fallot occurs during fetal growth, when the baby’s heart is developing. While factors such as poor maternal nutrition, viral illness or genetic disorders might increase the risk of this condition, in most cases the cause of tetralogy of Fallot is unknown.
The four abnormalities that make up the tetralogy of Fallot include:
Some children or adults who have tetralogy of Fallot may have other heart defects, such as a hole between the heart’s upper chambers (atrial septal defect), a right aortic arch or abnormalities of the coronary arteries.
Tetralogy of Fallot symptoms vary, depending on the extent of obstruction of blood flow out of the right ventricle and into the lungs. Signs and symptoms may include:
Sometimes, babies who have tetralogy of Fallot will suddenly develop deep blue skin, nails and lips after crying or feeding, or when agitated.
These episodes are called tet spells and are caused by a rapid drop in the amount of oxygen in the blood. Tet spells are most common in young infants, around 2 to 4 months old. Toddlers or older children might instinctively squat when they’re short of breath. Squatting increases blood flow to the lungs.
Seek medical help if you notice that your baby has the following symptoms:
If your baby becomes blue (cyanotic), place your baby on his or her side and pull your baby’s knees up to his or her chest. This helps increase blood flow to the lungs. Call 911 or your local emergency number immediately.