A fetal heart defect is congenital heart disease (CHD). These types of heart problems develop during pregnancy and are present at birth. It’s a fetal concern that affects the baby’s heart function and blood flow to the lungs and throughout the body. There are many potential causes of congenital heart disease including genetic disorders, diabetes in the mother or an infection during pregnancy. However, in other cases, the heart problem develops with no apparent cause or family risk factors.
Obstructive cardiac anomalies refer to blood flow which is restricted or completely blocked. The blockage is called atresia and the narrowing of the vessels is called stenosis. This category of CHD includes aortic stenosis, pulmonary stenosis and coarctation of the aorta.
Cyanotic defects produce a bluish discoloration of the skin because less than normal levels of oxygen are in the blood. These babies may appear healthy at birth because circulation is still following the fetal pathways (called persistent fetal circulation syndrome). This category of CHD includes tetralogy of Fallot, transposition of the great vessels, tricuspid atresia, pulmonary atresia, truncus arteriosus, total anomalous pulmonary venous connection, and hypoplastic left heart syndrome.
A septal defect is a hole in the septum (the wall in the chambers of the heart called atrium or ventricle). Some of these defects do not require surgery. As the child grows, the defect may spontaneously close. In other cases, heart surgery is indicated, often when the child is older. Overall, these atrial or ventricular defects force the heart to be overworked and to potentially become enlarged.
The St. Vincent Online Health Library provides information about many types of CHD.
At the prenatal appointment with your OB, a routine ultrasound at the 20th week of the pregnancy can detect many types of CHD. If there is an abnormal result, the OB will make a referral to a maternal fetal medicine specialist at the St. Vincent Perinatal Center for more extensive testing. This physician specializes in high-risk pregnancies.
If your baby is diagnosed with a heart defect, the perinatal experts at St. Vincent -- the maternal fetal medicine specialist, a neonatologist, a pediatric cardiologist, a pediatric surgeon specializing in cardiothoracic surgery, and a medical geneticist and neurodevelopment specialist – provide a coordinated pregnancy plan that includes additional tests to determine the type of heart defect and any associated fetal concerns:
Most babies with CHD tolerate a vaginal delivery; however, every birth is different. If the baby’s heart rate drops off due to labor, a cesarean section may be indicated. At the birth, the baby will be immediately stabilized and monitored in the NICU by the neonatologist and neonatal nurses.
Special IVs will be placed and your baby may need to be started on a medicine called prostaglandin to keep a special blood vessel in the chest called the ductus arteriosus open. Some babies with CHD may have difficulty breathing after birth and require the help of a breathing tube and breathing machine. Depending on the severity of heart disease your child may not be able to eat at first and will require a special IV nutrition called TPN.
The pediatric cardiologist and cardiothoracic surgeon are involved early on and will talk to the family about the treatment plan and any urgency to surgically repair the defect. The baby’s mother is just steps away in the postpartum unit. When possible, we encourage the bonding of mother and child through kangaroo care – which is skin-to-skin contact. All our mothers are encouraged to pump and store milk for the baby’s nourishment.
St. Vincent Women’s in Indianapolis is the only women’s hospital in Indiana to provide one location for both perinatal and neonatal care and maternity services.
For the baby born at an Indiana hospital without a NICU and who requires specialized care, our neonatologists are available to consult with the hospital maternity staff and attending OB. The Perinatal Team coordinates the necessary newborn critical care transportation arrangements to this St. Vincent Level IV NICU location.
The St. Vincent Children’s Heart Center diagnoses and treats children with all types of cardiovascular disease. To learn more about pediatric cardiology services click here.
By eight weeks into the pregnancy the unborn fetus forms a muscle called the diaphragm; it separates the chest and the abdominal cavity. If the diaphragm forms incompletely, this creates a hole in the muscle allowing the stomach, intestines, liver and spleen to push up in the chest cavity. The abdominal organs in the chest space do not allow the lungs to develop normally. The hole ranges in size from a very small one with a loop of the bowel pushing through, to a severe defect where only minimal diaphragm is present on the affected side.
This condition affects the space for the lungs to grow and as a result become underdeveloped (called pulmonary hypoplasia). Most of these babies have left-sided CDH, but the severity of this condition can affect the normal growth of both lungs and push the heart out of its normal position in the middle of the chest.
CDH is rare, only 1 in 1,600 live U.S. births per year, but the St. Vincent Perinatal Center through its Level IV NICU treats nearly a dozen newborn patients a year with CDH. The cause of this fetal condition is unknown, but it does not appear to be related to anything the mother did during pregnancy.
During the pregnancy at the prenatal appointment, a routine ultrasound can show how the lungs are developing. If CDH is suspected, a referral is made to a maternal fetal medicine (MFM) specialist for more advanced testing and evaluation.
The family will also meet with the neonatologist at St. Vincent Women’s in Indianapolis to discuss the diagnosis, labor and delivery considerations, and the treatment plan for the newborn in the NICU. Typically this consultation will be done between 24-28 weeks gestation.
Throughout the pregnancy, mother and baby will be closely monitored by the MFM. Serial ultrasound examinations look at fetal growth and amniotic fluid volume. A fetal MRI will be obtained between 32-34 weeks to better define the degree of pulmonary hypoplasia. This is one of the best predictors of how well the baby will be after birth.
Our multidisciplinary team meets after the fetal MRI to discuss all test findings and develop a personalized treatment plan. The team includes the pediatric surgeon, neonatologist, maternal fetal medicine specialists, pediatric intensive care unit (PICU), and Maternity and NICU support staff.
For most pregnancies, we will plan to deliver close to 39 weeks gestation at St. Vincent Women’s in Indianapolis. Cesarean section is not required for all pregnancies unless there are other obstetrical indications. If there appears to be very little amount of lung growth seen on the MRI or if there are other complications affecting the pregnancy, the team may elect to deliver the baby at Peyton Manning Children’s Hospital PICU in Indianapolis to be close to the ECMO team. All deliveries in the PICU will require a cesarean section. Mom will be monitored closely near her baby.
If the mom is from outside of the Indianapolis metro area, we may recommend that she stay closer to St. Vincent Women’s. These mothers may also have a condition called polyhydramnios, an increased amount of amniotic fluid. The condition puts the mother and baby at risk for preterm labor and delivery. It is safest to have mother and baby close to the hospital to avoid transferring the baby shortly after birth.
At the delivery, the NICU physicians and nurses focus on stabilizing the baby. A breathing tube will be placed shortly after birth to avoid excess air into the stomach and intestines that are located in the chest. In addition, a tube will be placed in the stomach to remove any normal bodily fluids to avoid over-distension of the bowels. The infant will not be able to eat until after the diaphragmatic hernia repair. To provide nutrition, lines are placed through the umbilical cord (TPN) and to monitor how well the lungs and heart are functioning. Often pain and sedation medications will be given to keep the baby comfortable.
All babies with CDH have something called pulmonary hypertension. This is increased blood pressures going to the lungs. If the pressure is high to the lungs, the baby will not be able to take in enough oxygen or get rid of excess carbon dioxide. Pulmonary hypertension is typically treated by keeping the baby comfortable and with a medication called inhaled nitric oxide (iNO). If the baby is not able to maintain normal saturations or exhale enough carbon dioxide despite being on the ventilator and medications, a decision is made to stabilize on extracorporeal membrane oxygenation (ECMO) in coordination with the Peyton Manning Children’s Hospital Pediatric Intensive Care Unit (PICU). This therapy is a type of heart and lung bypass to help take the load off the baby while he or she is healing.
At birth, the diaphragmatic hernia can have serious effects on your baby's ability to breathe and have a normal bowel function. In the NICU, there will be a lot of tubes and IVs. The mother has a very important role. We need her to start pumping and storing breast milk. The lactation nurses are available to help and support the mother throughout this stressful time. To encourage bonding, the parents can provide sensory stimulation by talking, humming and stroking the newborn if stable.
The hole in the diaphragm does not require emergency surgery to repair, but usually will be done during the first week or two of life. Waiting to repair the diaphragmatic defect allows the baby a chance to stabilize breathing before surgery. At St. Vincent, we can cite better overall outcomes when a child completes ECMO therapy before the diaphragm is surgically repaired. After the repair, these babies need intensive care in the NICU for weeks and even months. The baby’s organs need to settle into their proper place and lung and bowel function, in particular, is affected. The lungs need time to grow and develop.
Newborns with small hernias will have better lung development and usually have a shorter NICU stay. Total parenteral nutrition is an IV solution of proteins, fats, sugars, vitamins and minerals. Normal feedings can resume once normal bowel functions resume, but this can take weeks and even months. Because the stomach and intestines were originally in the chest cavity, reflux is also a typical side effect. These children are usually on anti-reflux medication. The average length of stay is 8-12 weeks, but can be longer. The length of stay is usually dependent on the amount of lung that the newborn has when born and the ability to grow new, healthy lung.
Through the Perinatal Center, a secondary team of pediatric specialists at Peyton Manning Children’s Hospital is available to the family for the short- and long-term needs of the child. Nearly 50% of these babies with CDH will have secondary fetal concerns.
Breath of Hope: Congenital Diaphragmatic Hernia (CDH) Awareness
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Duodenal atresia is a congenital condition that causes an intestinal obstruction or closure in the small intestine. As a result the newborn cannot feed and digest food properly. Duodenal atresia occurs for no apparent reason in, but it is a condition that we detect and treat at St. Vincent Women’s Hospital and NICU.
The duodenum is the first part of the small intestine that connects to the stomach. These organs form in the sixth week of pregnancy. Duodenal atresia is a blockage in the first portion of the small intestine. Sometimes during the pregnancy increased levels of amniotic fluid are detected due to the baby’s inability to swallow the fluid. These newborns also have a higher risk of other GI-related abnormalities.
An intestinal blockage can occur anywhere along the length of the small intestine (duodenum, jejunum, ileum and colon). When one segment is not connected to the other segment, it is called atresia. If there is a narrowing (or partial obstruction), it is called stenosis.
At the 20-week prenatal appointment a complete anatomy ultrasound is obtained. The baby’s anatomy is developed enough to detect intestinal complications. If there is an abnormal test result, a maternal fetal medicine (MFM) specialist at St. Vincent Perinatal Center will be consulted to diagnose and manage the high-risk pregnancy. A pediatric surgeon and neonatologist at St. Vincent Women’s will meet with the family to show them the NICU and discuss the newborn treatment plan.
These pregnancies are monitored very closely: Serial anatomy sonograms are done by the MFM to evaluate the position of the bowel or other organs, to make measurements, and to monitor weight gain. This test is also done because duodenal atresia is associated with genetic anomalies particularly Trisomy 21 or Down’s Syndrome. Through the MFM office, genetic testing and counseling may be recommended.
A term delivery is preferred. Duodenal atresia does not require a cesarean delivery except for routine obstetrical indications.
The neonatal team will attend the delivery and stabilize the baby in the NICU. Meanwhile, the mother is recovering nearby in the maternity unit. A baby with duodenal atresia will need to have IV feedings and a surgery to repair the intestinal blockage. The surgery will be scheduled soon after the birth of your child.
These babies often need help with breathing. A special tube is placed to assist with breathing until several days after the abdominal surgery. A nasal gastric tube is placed to keep the stomach empty and keep the pressure down on the intestines as it heals.
Eating is done through a central IV line that provides nourishment (vitamins, minerals, calories and fat). This line will be in place until bowels begin to respond; baby begins to stool; and drainage from the stomach tube decreases. In the meantime, the mother is encouraged to pump and store breast milk. Feedings will need to be started slowly and monitored closely for tolerance.
Many babies with duodenal atresia will have slow movement through the intestines which can cause problems of reflux. The baby will need to tolerate full feedings for optimal growth prior to going home. The time to full feedings with good weight gain usually is the primary determinant of length of stay in the hospital.
The severity of the condition and the recovery time will vary based on any associated GI or health problems.
While in the NICU, nurses will be teaching the baby and parents about special eating considerations and how take a bottle. Speech therapists are available to work with the mother and child on therapies that stimulate eating and swallowing. Follow-up care includes appointments with your pediatrician and the pediatric surgeon at Peyton Manning Children’s Hospital at St. Vincent.
Gastroschisis is a rare fetal gastrointestinal condition (1 in 5,000 live births in the U.S.). A diagnosis of gastroschisis indicates a portion of the intestines and stomach are protruding through the hole to the outside of the baby’s body. In the womb, these organs are surrounded by amniotic fluid which can cause the affected parts to become thick, swollen and inflamed.
At the 20-week prenatal appointment a complete anatomy ultrasound is obtained. The baby’s anatomy is developed enough to detect possible abdominal wall defects. If there is an abnormal ultrasound or elevated alpha fetoprotein (AFP) blood test, a maternal fetal medicine (MFM) specialist at St. Vincent Perinatal Center will be consulted to diagnose and manage the high-risk pregnancy. A pediatric surgeon and neonatologist at St. Vincent Women’s will meet with the family to show them the NICU and discuss the newborn treatment plan.
These pregnancies are monitored very closely:
Labor is usually induced between the 35th and 37th week of pregnancy. A vaginal delivery is preferred. Gastroschisis does not require a cesarean delivery except for routine obstetrical indications.
The Perinatal Team carefully handles the abdominal organs and stabilizes the newborn in the NICU. Meanwhile, the mother is recovering not far away in the maternity unit. A baby with gastroschisis will need to have the intestines and organs back into the abdominal cavity and to repair the hole. If there is a small amount of bowel that can easily be reduced, the infant may have a primary closure shortly after delivery.
Because the bowel is inflamed, it may not immediately fit into the abdominal cavity. For this reason, the exposed bowel is placed into a silo with warm saline. Gradually the swelling goes down and the bowel moves back into the body. The abdominal wall defect is repaired at a later time once all the bowel and all organs are in place.
These babies often need help with breathing. A special tube is placed to assist with breathing until several days after the abdominal closure. A nasal gastric tube is placed to keep the stomach empty and keep the pressure down on the intestines as it heals.
Eating is done through a central IV line that provides nourishment (vitamins, minerals, calories and fat). This line will be in place for a prolonged period of time until bowels begin to respond; baby begins to stool; and drainage from the stomach tube decreases.
In the meantime, the mother is encouraged to pump and store breast milk. Feedings will need to be started slowly and monitored closely for tolerance. Many babies with gastroschisis will have slow movement through the intestines which will cause problems of reflux. The baby will need to tolerate full feedings for optimal growth prior to going home. The time to full feedings with good weight gain usually is the primary determinant of length of stay in the hospital.
Gastroschisis is also related to other gut problems including intestinal blockage, malrotation, twisting or infarction if the blood supply is cut off to part of the bowel. The severity of the condition and the recovery time will vary based on the size of the defect and any associated GI problems.
The NICU nurses will identify ways for the parents to bond and interact with their baby. Recovering from gastroschisis can mean a length of stay of 4-6 weeks for an uncomplicated NICU course. If there are any significant problems with the intestines (atresia, bowel loss, infection) the baby may be in the hospital for several months. There will be a lot of time teaching the baby how to eat and take a bottle. Speech therapists work with the mother and child on therapies that stimulate eating and swallowing.
Acid reflux is a side effect that can be managed with medication. Follow-up care includes appointments with your pediatrician and the pediatric surgeon at Peyton Manning Children’s Hospital.
Facts about Gastroschisis and Ashley’s Story —
Avery Angels Gastroschisis Foundation — Frequently Asked Questions
Newborns with holoprosencephaly have abnormal brain development that affects the head and face. Early in fetal development, the brain normally divides into two halves (right and left hemispheres). But in children with holoprosencephaly, the brain is not properly divided. Chromosomal abnormalities, genetic syndromes, or substances that cause birth defects cause this condition. The severity varies widely, even within the same family.
The four types of holoprosencephaly are distinguished by different degrees of brain division and craniofacial deformities, like cleft palate and cleft lip, having only one central tooth instead of two, a flat nasal bridge or turned up nose, small head size, or abnormally small or absent eyeballs. The four types are listed from most to least severe:
A diagnosis of holoprosencephaly may be made prenatally or it may be obvious at birth because of the craniofacial abnormalities. At the 20-week prenatal appointment a complete anatomy ultrasound is obtained. The baby’s brain can be visualized for possible abnormalities. The maternal fetal medicine (MFM) specialist at St. Vincent Perinatal Center will be consulted to diagnose and manage the high-risk pregnancy. If needed, a fetal MRI will be performed to better determine the suspected brain anomaly. The family will also meet with a neonatologist and neurologist at St. Vincent Women’s to discuss a treatment plan. A multi-specialty craniofacial team represented by a neurosurgeon and pediatric surgeons are part of your child’s care team.
These pregnancies are monitored very closely: Serial anatomy sonograms are done by the MFM to make measurements of the brain, and to monitor growth and development. This test is also done because is this condition is associated with other genetic anomalies. Through the MFM office, genetic testing and counseling will be recommended.
A term delivery is preferred. If the baby develops a very large head, then a cesarean delivery may be needed.
The neonatal team will attend the delivery and stabilize the baby in the NICU. Meanwhile, the mother is recovering nearby in the maternity unit. These newborns are monitored closely for seizures. Postnatal neuroimaging is needed to diagnose the type of holoprosencephaly. The type and severity of the condition will determine the short and long-term care plan.
In less severe cases, these children can be breast fed or bottle fed. In other cases, a breathing tube and a nasogastric feeding tube may be needed to help the baby grow and develop. Some babies may eventually require a surgically placed feeding tube called a G-tube for longer term help with nutrition and feeding.
The complexity of this condition affects brain and body functions. Hydrocephalus, the buildup of fluid in the brain, may be a complication of this condition. These children often have complex medical problems. Babies with Holoprosencephaly have a high risk of developmental delay, learning disabilities, seizures, feeding difficulties, and breathing problems. The severity of these complications is highly variable based on the severity of condition and any underlying genetic disorders.
The neonatologists and pediatric specialists are Peyton Manning Children’s Hospital at St. Vincent offer many levels of support and care.
If your baby has problems eating or swallowing, speech therapists are available to work with the mother and child on feeding and swallowing therapies.
Hydrocephalus is a fetal condition that causes an accumulation of fluid in the brain, resulting in potentially harmful pressure on the brain. Hydrocephalus is caused when the flow of cerebral spinal fluid is blocked due to a variety of factors including abnormal brain formation, a cyst in the brain and bleeding in the brain.
More than half of the newborns with hydrocephalus will also have an associated brain or spine disorder, such as spina bifida. Studies show that 12-25% of these babies also have an associated genetic disorder.
During the prenatal appointment with your obstetrician, a routine ultrasound at the 20th week of the pregnancy measures the baby’s head size and is often the first indicator of hydrocephalus. If there is an abnormal finding because the head circumference is larger than normal, a referral is made to the maternal fetal medicine specialist to monitor this condition monthly with repeat ultrasounds. If needed, a fetal MRI may be done at 28-32 weeks to evaluate the anatomy of the brain to confirm ventriculomegaly, and to look for associated brain and spine disorders.
These complex fetal cases require specialized care. The St. Vincent MFM and neonatologist will discuss with the family the labor and delivery preparations at St. Vincent Women’s and the newborn care provided at the Level IV NICU. The pediatric neurosurgeon and neurologist are involved to evaluate fetal concerns and coordinate care with the Perinatal Team.
The type of labor and delivery will be determined by many factors including the baby's head size, fetal position and vitals. Hydrocephalus does not necessarily indicate a Caesarean section delivery.
At the birth, the NICU staff immediately stabilizes the newborn. These babies often need help breathing initially. Close monitoring is done by the neonatologist to evaluate the pressure on the brain and other body functions. Additional imaging of the brain will be performed to confirm the diagnosis followed by consultation with a neurosurgeon to evaluate the best plan of care.
Treatment may be necessary if the ventricles in the brain continue to expand and the head circumference grows too fast. If surgery is necessary, a shunt, which is a thin tube that drains the cerebral spinal fluid, is surgically placed 24-48 hours after birth. During this time, the NICU staff creates many opportunities for the family to bond with their baby. Parents will learn how to care for, feed and monitor their baby. For some of these babies, swallowing is a problem. St. Vincent pediatric physical therapists and feeding therapists work with families on helpful therapies.
While the baby is in the NICU, mothers are encouraged to pump and store breast milk. The milk can be frozen and stored in the NICU until the baby is ready for it.
A baby with simple hydrocephalus who needs a shunt will typically be able to go home within two weeks. Babies with complex hydrocephalus may need long-term subspecialty care based on the severity of those anomalies. Because these children are at high risk for learning and development problems, our subspecialty teams at Peyton Manning Children's Hospital provide ongoing outpatient support:
"Hydrocephalus Fact Sheet", NINDS, Publication date May 2013.
Hydrocephalus Information Page
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Omphalocele is a congenital abdominal wall defect. The abdominal muscles around the umbilicus do not develop properly forming an abdominal hole that enables the intestines to protrude. Unlike the fetal condition Gastroschisis, the intestines are covered in a membrane sac. The severity of an omphalocele varies from small to large protrusions. In rare circumstances the entire intestine, along with other abdominal organs such as the liver or spleen, are outside the abdominal cavity and covered by a thin membrane. As a result, these newborns have undersized abdominal cavities that need to grow and develop.
At the 20-week prenatal appointment a complete anatomy ultrasound is obtained. The baby’s anatomy is developed enough to detect intestinal complications like an omphalocele. If there is an abnormal test result, a maternal fetal medicine (MFM) specialist at St. Vincent Perinatal Center will be consulted to diagnose and manage the high-risk pregnancy. The family will also meet with a pediatric surgeon and neonatologist at St. Vincent Women’s to discuss a treatment plan.
These pregnancies are monitored very closely: Serial anatomy sonograms are done by the MFM to evaluate the position of the bowel or other organs, to make measurements, and to monitor weight gain. This test is also done because this condition is associated with genetic anomalies. Through the MFM office, genetic testing and counseling may be recommended.
A term delivery is preferred. Route of delivery is dependent on the size of the omphalocele and infants with a giant omphalocele may require a cesarean delivery.
The neonatal team will attend the delivery and stabilize the baby in the NICU. Meanwhile, the mother is recovering nearby in the maternity unit. Some but not all of these newborns will need to have a breathing tube and a central line and IV nutrition. For small omphaloceles, surgery will be scheduled soon after the birth of your child. If your newborn has a large omphalocele, a vacuum-assisted medical device, called a WoundVac, is placed on the abdomen to slowly bring the omphalocele opening together over time so that it can be surgically closed at a later date. The timing of surgery also depends on the size of the abdominal cavity. It needs to grow and be large enough to accommodate all of the protruding intestines or organs.
In many cases, these babies can be breast fed or bottle-fed. The severity of the condition and the recovery time will vary based on any associated GI or health problems.
If your baby has problems eating or swallowing, speech therapists are available to work with the mother and child on feeding and swallowing therapies. Follow-up care includes appointments with your pediatrician and the pediatric surgeon at Peyton Manning Children’s Hospital at St. Vincent.
Spina bifida is the most common type of neural tube defect affecting newborns in the U.S. More complex and severe forms are called meningocele and myelomeningocele.
Spina bifida is a birth defect that causes problems with the spine, spinal cord and the surrounding nerves. It is a failure of the neural tube to close and should be detectable by the end of the first trimester during the mother’s prenatal appointment and fetal ultrasound. This condition causes a portion of the spinal cord and the surrounding structures to develop outside, instead of inside of the body. The location can be anywhere along the spine. If the lesion is higher on the spine, near the heart and lungs or brain, other complex medical conditions may be present.
What causes spina bifida? This condition is linked to family history and genetic in approximately 5% of cases. Prenatal risk factors of the mother (obesity, uncontrollable diabetes, and some prescription medicines) are also associated risk factors. The baby (fetus) benefits from what the mother eats; that is why good nutrition is so important. This fetal condition can largely be prevented by following a healthy diet, prenatal instructions and taking a daily multivitamin that includes folic acid (Vitamin B). (Source: American College of Medical Genetics, Center for Disease Control)
Spina Bifida Occulta – a mild form of spina bifida. The spinal cord and the surrounding structures stay inside the body. The lower spine does not form as it should. The child may have a hair patch, dimple, or birthmark over the area of the defect.
Looking at the baby’s spine, Spina bifida occulta often looks like an abnormal dimple, hairy patch or sac protrusion on the baby’s back. In some cases, these babies are born at hospitals without a NICU. The neonatologists at St. Vincent Women’s are available to consult with outlying hospitals and the attending OB regarding newborn care for these babies and to arrange possible newborn transport to the NICU for follow-up care.
Meningocele – a moderate form of spina bifida. The fluid-filled sac is visible outside of the back area. The sac does not contain the spinal cord or nerves.
Myelomeningocele – a severe form of spina bifida. The spinal cord and nerves develop outside of the body encapsulated in a fluid-filled sac, covered by a tiny membrane. The newborn typically experiences weakness and a loss of sensation below the defect. Bowel and bladder function may also be affected. A majority of these babies will also have hydrocephalus, a condition that causes fluid to build inside of the head and the head to enlarge.
At the 10-week prenatal appointment, the first ultrasound imaging test shows growth and development of the baby and is sensitive enough to show if the neural tube is closed. A common blood test, the maternal serum alpha-fetoprotein (AFP) test is available during the 15-20th week of pregnancy to screen for spina bifida. If the levels of the AFP test are abnormal, other tests may be needed to confirm diagnosis. Other tests, including amniocentesis, fetal MRI or fetal echocardiogram, may be recommended if other abnormalities are suspected.
If spina bifida is diagnosed, a maternal fetal medicine specialist is consulted and a series of ultrasounds will be performed to monitor the baby’s development and the location and size of the lesion. The family will meet with a pediatric neurosurgeon to discuss a surgical plan of care after delivery. The Perinatal Team is involved to prepare for the birth. A medical genetics and neurodevelopment specialist, also a neonatologist, is consulted to evaluate chromosomal test results and related cognitive concerns. Are these two specialists or one?
The neonatologist is part of the Perinatal Team. These babies usually require care in the NICU for evaluation and surgery to close the defect. During the pregnancy, families will visit the NICU and meet a neonatologist so they can better understand the type of care their newborn will need. Our board-certified neonatologists are on site 24/7/365 and are experienced in the care of babies born with all types of spina bifida.
A Caesarean delivery is often done to decrease the risk of damage to the sac and the nerves.
Immediately at the birth, the NICU team stabilizes the newborn. The type, size and location of the lesion determine the type and timing for any surgical interventions. A pediatric neurosurgeon has already been evaluating the prenatal tests and will discuss surgical treatment options and long-term health goals with the family. Once the lesion is removed and repaired, the healing process takes place in the NICU.
At St. Vincent we observe strict latex precautions. A child with spina bifida (especially the most severe type myelomeningocele) is at higher risk for a latex allergy (balloons, latex gloves, etc.)
For long-term care, other pediatric specialists are available to support the special needs of the child (for example, pediatric cardiologists, pediatric urologist, orthopedic surgeon, physiatrist and pediatric physical therapists). These children often have long-term needs related to:
There is no cure for spina bifida because the nerve tissue cannot be replaced or repaired; however, repairing the spinal area surgically soon after birth minimizes the risk of infection and preserves the existing function in the spinal cord. The long-term consequences of spina bifida depend on many factors: The severity of the defect; size of lesion; location on the spine; timing of the surgery; and if other bodily organs are affected.
The Perinatal staff is a resource for families and will help to make the referral to the St. Vincent Pediatric Specialists at Peyton Manning Children’s Hospital who provide ongoing care to children with Spina Bifida.
Current medical studies report approximately 5% of all spina bifida cases involve a genetic link. If the mother already has a child with spina bifida, the chance of having another affected child is 1 in 20. The risk increases if a close blood relative on the mother’s side has a child with spina bifida. If the mother herself has spina bifida, there is a 1-5% chance her child will have spina bifida and if both parents have spina bifida that risk increases to 15%. (Source: http://www.spinabifida.net/causes/hereditary-and-genetics.html)
Families considering future pregnancies should arrange a consultation with the Maternal Fetal Medicine (MFM) specialist to discuss all risk factors (genetic, lifestyle and medical). Genetic counseling is also available at the Perinatal Center of Excellence. Talk to your Maternal Fetal Medicine physician about these services.