0. Congenital Anomaly
By: Emily Ebright, Amanda Guy, Sarah Shirey, Mary Skrypiec, Haley VanWormer

1. Introduction: What is congenital anomaly?
Something that is unusual or different at birth.-->The word "congenital" means "at birth." "Anomaly" comes from the Greek word "anomalos" meaning "uneven" or "irregular."
A minor anomaly is defined as an unusual anatomic feature that is of no serious medical or cosmetic consequence to the patient. A minor anomaly of the feet might, for example, be curvature of the second toe so it overlaps the third toe a little.
A major anomaly, by contrast, might be a cleft lip and palate, a birth defect of serious medical and cosmetic consequence to the child.
Citation: Definition of Congenital anomaly. (2012, June 4). Retrieved September 7, 2014, from

2. Cleft Lip + Cleft Palate
Definition
Causes
Signs and Symptoms
Diagnosis
Definition -
During Pregnancy lips are not formed until the weeks between the fourth and seventh week. During this time a cleft lip can form. A Cleft lip is when the tissue that makes the upper lip doesn’t come together completely before birth. The lip not forming together causes a slit in the lip. Cleft lips can be on either side, or even down the middle.
The roof of the mouth is formed between the sixth and ninth week of pregnancy. During this time if the tissue that makes up the roof of the mouth doesn’t form completely and results in a slit on the upper palates (both front and back) it results in a cleft palate.
Causes -
The major cause of cleft lips and cleft palates are unknown but many people think it occurs because a change in the babies genes.
According to the CDC website, “Some factors that increase the chance of having a baby with an orofacial cleft is when the mothers smoke, have diabetes, or use of certain medications such as topiramate or valproic acid (2014, August).
Diagnosis
Cleft palates can be diagnosed during a routine ultrasound and also when the baby is born by a physical assessment.
To assess if a baby has a cleft lip or palate the nurse will inspect the mouth visually and by palpation. The nurse examines the teeth(amount, if any are loose), the tongue (size and movement), assess for thrush, and for a cleft lip or palate.
The palate is inspected when the infant cries. A gloved finger is inserted into the mouth to palpate the hard and soft palate. severe clefts are obvious at birth but small clefts can be missed if only a visual examination is done.
Birth Defects. (2014, August). In Center for disease control and prevention. Retrieved September 9, 2014, from
Murray, S., & McKinney, E. (2014). High-Risk Newborn: Acquired and Congenital Conditions. In Foundations of Maternal-Newborn and Women's Health Nursing (6th ed., p. 397). St. Louis: Elsevier Saunders.

3. Cleft Lip + Cleft Palate Cont.
Treatments
Life expectancy
Nursing Considerations
Treatments for Cleft lip and Cleft palate include surgical interventions and therapeutic management.
Surgical interventions to repair a cleft lip, surgery must occur in the first 12 months of life (earlier the better). To repair a cleft palate surgery Is recommended in the first 18 weeks. Many children must undergo multiple surgeries until they get the problem all fixed.
Orofacial clefts can cause breathing, hearing, speech, and language developmental problem but the main reason people get surgery with them are for cosmetic looks. For their baby to look like the “norm”.
Parent to parent support groups are offered to parents with children who have orofacial cleft. “Some children with orofacial clefts have issue with self-esteem because they are concerned about the visual differences between them and others” (cdc website) But support will help the children not be so concerned about it.
“with treatment, most children with orofacial clefts do well and lead a healthy life”. They have a normal life expectancy compared to a healthy, normal individual. (cdc)
Nursing Considerations -
degree of the cleft determines the approach to feeding. Experiment to find method that work best for individual infants.
Parents can try to breastfeeding,compressible bottles, special longer nipples, special assistant devices.
-feed infant in upright position so the baby has less likely chance to aspirate
-feed slowly with frequent stops to burp because infants tend to swallow excessive air.
- wash away milk curds with water after feeding
-help parents cope with obvious abnormality
-teach parents feeding techniques.
-reinforce the physicians explanation of plans for surgery.
Murray, S., & McKinney, E. (2014). High-Risk Newborn: Acquired and Congenital Conditions. In Foundations of Maternal-Newborn and Women's Health Nursing (6th ed., p. 671). St. Louis: Elsevier Saunders.

4. Spina Bifida Definition Causes Signs and Symptoms Life expectations
Definintion: Spina bifida, which literally means “cleft spine,” is characterized by the incomplete development of the brain, spinal cord, and/or meninges (the protective covering around the brain and spinal cord). It is the most common neural tube defect in the United States—affecting 1,500 to 2,000 of the more than 4 million babies born in the country each year. An estimated 166,000 individuals with spina bifida live in the United States.
Causes: The exact cause of spina bifida remains a mystery. No one knows what disrupts complete closure of the neural tube, causing this malformation to develop. Scientists suspect the factors that cause spina bifida are multiple: genetic, nutritional, and environmental factors all play a role. Research studies indicate that insufficient intake of folic acid—a common B vitamin—in the mother’s diet is a key factor in causing spina bifida and other neural tube defects. Prenatal vitamins typically contain folic acid as well as other vitamins. (See “Can the disorder be prevented?” for more information on folic acid.)
Sgns and Symptoms: The symptoms of spina bifida vary from person to person, depending on the type and level of involvement. Closed neural tube defects are often recognized early in life due to an abnormal tuft or clump of hair or a small dimple or birthmark on the skin at the site of the spinal malformation.
Meningocele and myelomeningocele generally involve a fluid-filled sac—visible on the back—protruding from the spinal canal. In meningocele, the sac may be covered by a thin layer of skin. In most cases of myelomeningocele, there is no layer of skin covering the sac and an area of abnormally developed spinal cord tissue is usually exposed.
Life expectations: Children with spina bifida can lead active lives. Prognosis, activity, and participation depend on the number and severity of abnormalities and associated personal and environmental factors. Most children with the disorder have normal intelligence and can walk, often with assistive devices. If learning problems develop, appropriate educational interventions are helpful. Most children are able to walk (though usually with the aid of orthopedic bracing and assistive devices such as crutches). Some are full-time walkers, but many walk short distances and choose a wheelchair or electric cart for long distances. It is generally only those with thoracic or high lumbar spinal lesions who end up using the wheelchair as their only method of mobility. Most people with SB have normal IQ scores but may have learning difficulties. These can often be addressed when parents and teachers understand the issues and work together. Despite having normal intelligence, many adults with SB still struggle to live independently. Research
suggests that there are likely multiple reasons for this, including the occurrence and type(s) of learning issues present, family and individual beliefs and expectations, and potential lack of exposure to peer and societal experiences compared to their non- disabled peers.
Spina Bifida. (2013, June 6). Retrieved September 7, 2014, from

5. Spina Bifida Cont. Diagnosed Prenatal Postnatal Prenatal Diagnosis
The most common screening methods used to look for spina bifida during pregnancy are second trimester (16-18 weeks of gestation) maternal serum alpha fetoprotein (MSAFP) screening and fetal ultrasound. The MSAFP screen measures the level of a protein called alpha-fetoprotein (AFP), which is made naturally by the fetus and placenta. During pregnancy, a small amount of AFP normally crosses the placenta and enters the mother’s bloodstream. If abnormally high levels of this protein appear in the mother’s bloodstream, it may indicate that the fetus has an “open” (not skin-covered) neural tube defect. The MSAFP test, however, is not spe
cific for spina bifida and requires correct gestational dates to be most accurate; it cannot definitively determine that there is a problem with the fetus. If a high level of AFP is detected, the doctor may request additional testing, such as an ultrasound or amniocentesis to help determine the cause.
The second trimester MSAFP screen described above may be performed alone or as part of a larger, multiple-marker screen. Multiple-marker screens look not only for neural tube defects, but also for other birth defects, including Down syndrome and other chromosomal abnormalities. First trimester screens for chromosomal abnormalities also exist but signs of spina bifida are not evident until the second trimester when the MSAFP screening is performed.
Amniocentesis—an exam in which the doctor removes samples of fluid from the amniotic sac that surrounds the fetus—may also be used to diagnose spina bifida. Although amniocentesis cannot reveal the severity of spina bifida, finding high levels of AFP and other proteins may indicate that the disorder is present.
Postnatal Diagnosis
Mild cases of spina bifida (occulta, closed) not diagnosed during prenatal testing may be detected postnatally by plain film X-ray examination. Individuals with the more severe forms of spina bifida often have muscle weakness in their feet, hips, and legs that result in deformities that may be present at birth. Doctors may use magnetic resonance imaging (MRI) or a computed tomography (CT) scan to get a clearer view of the spinal cord and vertebrae. If hydrocephalus is suspected, the doctor may request a CT scan and/or X-ray of the skull to look for extra cerebrospinal fluid inside the brain.
Spina Bifida. (2013, June 6). Retrieved September 7, 2014, from

6. Spina Bifida Cont. Four types Occulta Closed neural tube defects
meningocele
myelomeningocele
There are four types of spina bifida: occulta, closed neural tube defects, meningocele, and myelomeningocele.
Occulta is the mildest and most common form in which one or more vertebrae are malformed. The name “occulta,” which means “hidden,” indicates that a layer of skin covers the malformation, or opening in the vertebrae. This form of spina bifida, present in percent of the general population, rarely causes disability or symptoms.
Closed neural tube defects make up the second type of spina bifida. This form consists of a diverse group of defects in which the spinal cord is marked by malformations of fat, bone, or meninges. In most instances there are few or no symptoms; in others the malformation causes incomplete paralysis with urinary and bowel dysfunction.
In the third type, meningocele, spinal fluid and meninges protrude through an abnormal vertebral opening; the malformation contains no neural elements and may or may not be covered by a layer of skin. Some individuals with meningocele may have few or no symptoms while others may experience such symptoms as complete paralysis with bladder and bowel dysfunction.
Myelomeningocele, the fourth form, is the most severe and occurs when the spinal cord/neural elements are exposed through the opening in the spine, resulting in partial or complete paralysis of the parts of the body below the spinal opening. The impairment may be so severe that the affected individual is unable to walk and may have bladder and bowel dysfunction.
Spina Bifida. (2013, June 6). Retrieved September 7, 2014, from

7. Spina Bifida Cont. Prevention Treatment Can the disorder be prevented?
There is no cure for spina bifida. The nerve tissue that is damaged cannot be repaired, nor can function be restored to the damaged nerves. Treatment depends on the type and severity of the disorder. Generally, children with the mildest form need no treatment, although some may require surgery as they grow.
The key early priorities for treating myelomeningocele are to prevent infection from developing in the exposed nerves and tissue through the spinal defect, and to protect the exposed nerves and structures from additional trauma. Typically, a child born with spina bifida will have surgery to close the defect and minimize the risk of infection or further trauma within the first few days of life.
Selected medical centers continue to perform fetal surgery for treatment of myelomeningocele through a National Institutes of Health experimental protocol (Management of Myelomeningocele Study, or MOMS). Fetal surgery is performed in utero (within the uterus) and involves opening the mother’s abdomen and uterus and sewing shut the abnormal opening over the developing baby’s spinal cord. Some doctors believe the earlier the defect is corrected, the better the baby’s outcome. Although the procedure cannot restore lost neurological function, it may prevent additional loss from occurring.
The surgery is considered experimental and there are risks to the fetus as well as to the mother. The major risks to the fetus are those that might occur if the surgery stimulates premature delivery, such as organ immaturity, brain hemorrhage, and death. Risks to the mother include infection, blood loss leading to the need for transfusion, gestational diabetes, and weight gain due to bed rest.
Still, the benefits of fetal surgery are promising, and include less exposure of the vulnerable spinal nerve tissue and bone to the intrauterine environment, in particular the amniotic fluid, which is considered toxic. As an added benefit, doctors have discovered that the procedure may affect the way the fetal hindbrain develops in utero, decreasing the severity of certain complications—such as Chiari II and hydrocephalus—and in some cases, eliminating the need for surgery to implant a shunt.
Twenty to 50 percent of children with myelomeningocele develop a condition called progressive tethering, or tethered cord syndrome; their spinal cord become fastened to an immovable structure—such as overlying membranes and vertebrae—causing the spinal cord to become abnormally stretched with the child’s growth. This condition can cause loss of muscle function to the legs, as well as changes in bowel and bladder function. Early surgery on a tethered spinal cord may allow the child to return to their baseline level of functioning and prevent further neurological deterioration.
Some children will need subsequent surgeries to manage problems with the feet, hips, or spine. Individuals with hydrocephalus generally will require additional surgeries to replace the shunt, which can be outgrown or become clogged or infected.
Some individuals with spina bifida require assistive devices such as braces, crutches, or wheelchairs. The location of the malformation on the spine often indicates the type of assistive devices needed. Children with a defect high on the spine will have more extensive paralysis and will often require a wheelchair, while those with a defect lower on the spine may be able to use crutches, leg braces, or walkers. Beginning special exercises for the legs and feet at an early age may help prepare the child for walking with those braces or crutches when he or she is older.
Treatment for bladder and bowel problems typically begins soon after birth, and may include bladder catheterizations and bowel management regimens.
Can the disorder be prevented?
Folic acid, also called folate, is an important vitamin in the development of a healthy fetus. Although taking this vitamin cannot guarantee having a healthy baby, it can help. Recent studies have shown that by adding folic acid to their diets, women of childbearing age significantly reduce the risk of having a child with a neural tube defect, such as spina bifida. Therefore, it is recommended that all women of childbearing age consume 400 micrograms of folic acid daily. Foods high in folic acid include dark green vegetables, egg yolks, and some fruits. Many foods—such as some breakfast cereals, enriched breads, flours, pastas, rice, and other grain products—are now fortified with folic acid. Many multivitamins contain the recommended dosage of folic acid as well.
Women who already have a child with spina bifida, who have spina bifida themselves, or who have already had a pregnancy affected by any neural tube defect are at greater risk of having another child with spina bifida or another neural tube defect; 5-10 times the risk to the general population. These women may benefit from taking a higher daily dose of folic acid before they consider becoming pregnant.
Spina Bifida. (2013, June 6). Retrieved September 7, 2014, from

8. Congenital Heart Defects
Definition
Causes
Signs and symptoms
Definition: Malformation of the structure of the heart that is present at birth and affects the function of the heart. They can be considered very mild, to the point of little to no symptoms, or they can be severe and affect the baby’s ability to survive outside of the uterus. It is the most common birth defect affecting approximately 1% of babies born 1 in 4 of those babies have a heart defect that is considered critical. It causes more deaths within the first year of life than any other birth defect.
Causes: No specific cause is known. The cause is thought to be multifactorial. A combination of genetics, environment, mother’s health, mother’s diet, and/or possible medication the mother was taking during pregnancy. Diabetes, obesity, and smoking have been linked to congenital heart defects.
Signs and Symptoms: For the mother there will not be any signs or symptoms. After birth the baby may have cyanosis, may have shortness of breath, may by tachypneic, or may seem more sleepy than normal.
Congenital heart defects (CHD) (2014, July 18). In Center for disease control and prevention. Retrieved September 8, 2014, from

9. Congeital Heart Defects: Diagnosis and Prognosis
Diagnosis: May be diagnosed during pregnancy. If a physician suspects a heart defect may be present during a regular ultrasound he or she may have an echocardiogram done of the baby’s heart while in utero to better diagnose the defect. After birth every baby is tested by simply using a pulse ox. If the baby’s sats are low and a heart defect is suspected the baby will be seen by a cardiologist and often times an echo is done to confirm. If a defect is detected before birth it can better the chances of survival for the baby and allow treatment to be started as soon as it is born.
Prognosis:
· % of babies born with non-critical CHD like a septal defect are expected to survive to over the age of 18.
· About 75% of babies born with critical heart defects like dextro-transposition of the great arteries are expected to live past the first year of life. However, only
69% are expected to live past the age of 18
· % of congenital heart defects are associated with other genetic conditions
· About 20-30% have other cognitive or developmental disorders
Congenital heart defects (CHD) (2014, July 18). In Center for disease control and prevention. Retrieved September 8, 2014, from

10. Congenital Heart Defects: Ventricular Septal Defect
Most common CHD
Not considered to be a critical heart defect
· Most common- not a critical congenital heart defect
· The ventricular septum doesn’t fully develop leaving a hole. There can also be septal defects between the atria (atrial septal defect) or between the atria and
ventricles (atrioventricular septal defect).
· Blood flows from the left ventricle to the right ventricle through the hole causing more blood to be pumped into the lungs at once which also causes the lungs
and heart to work harder.
· Often holes are small enough they close on their own without treatment and may not have any symptoms.
· If untreated it can cause heart failure, pulmonary hypertension, arrhythmias and stroke.
Congenital heart defects (CHD) (2014, July 18). In Center for disease control and prevention. Retrieved September 8, 2014, from

11. Congenital Heart Defects: Tetralogy of Fallot
· Ventricular septal defect, pulmonary stenosis, aorta is positioned over the ventricular defect and there is hypertrophy of the right ventricles
· Often treated soon after baby is born. Pulmonary valve is replaced and the pulmonary artery is widened to decrease stenosis. The ventricular septal defect is
also closed with a patch.
· Increase in blood flow throughout the body will allow the infant to live an active, healthy life with regular follow up visits with a cardiologist
Congenital heart defects (CHD) (2014, July 18). In Center for disease control and prevention. Retrieved September 8, 2014, from

12. Congenital Heart Defects: Dextro-Transposition of the Great Arteries
May also have other defects
Considered a critical heart defect
• The pulmonary artery and aorta are transposed.
• Blood from the body enters the right side and goes directly back out to the rest of the body through the aorta. Blood from the lungs enters from the left side and is
pumped back to the lungs through the pulmonary artery
• Often babies with this defect also have a septal defect of either the ventricles or atria which allows some oxygen rich blood to circulate.
• Surgery is needed very soon after birth, usually within the first month after birth. Either the two vessels are switched back into their rightful places, or the arteries
are left in place and a baffle (tunnel) is created between the atria which allows oxygen-poor blood to move from the right atrium to the left ventricle then out the
pulmonary artery to the lungs (not done very often because it makes extra work for the ventricles which could cause hypertrophy or CHF)
• Surgery is not a cure, they may have lifelong complications, but with management can lead long healthy lives.
Congenital heart defects (CHD) (2014, July 18). In Center for disease control and prevention. Retrieved September 8, 2014, from

13. Nursing Diagnosis: Infant
Imbalanced Nutrition
Less than Body Requirement
More than Body Requirement
Impaired Mobility
Delayed/Impaired Growth and Development

14. Nursing Diagnosis: Family
Grieving
Loss of a Perfect Child
Fear
Special Care Needs
Surgery
Chronic Sorrow
Birth of a Child with Congenitial Defect

15. Conclusion Key Facts Causes / Risk Factors Prevention Detection
Causes of 2.7 million neonatal deaths in 193 countries in 2010
Key Facts
Causes /
Risk Factors
Prevention
Detection
Treatment

16. References
Congenital anomalies. (2014, January 1). In World Health Organization. Retrieved September 6, 2014, from
Congenital heart defects (CHD) (2014, July 18). In Center for disease control and prevention. Retrieved September 8, 2014,
from
Ladwig, G. B., & Ackley, B. J., (2014). Mosby’s Guide to Nursing Diagnosis (4th ed.). Maryland Heights, Missouri: Elsevier Inc.
Spina Bifida. (2013, June 6). Retrieved September 7, 2014, from
w.ninds.nih.gov/disorders/spina_bifida/detail_spina_bifida.htm