Pregnancy and Cavernous Angioma
Frequently Asked Questions
This material is intended for informational purposes only and does not replace consultation with a knowledgeable physician.
Note: We use the term “cavernous malformation” as a synonym for cavernous angioma, cavernous hemangioma, and cavernoma. Venous malformations (venous angioma, DVAs) and arterio-venous malformations (AVMs) are different types of vascular malformations and information for these conditions is not included here.
I have had one cavernous malformation and it has been surgically removed. What are my pregnancy risks?
Hormones released during pregnancy may reduce the “seizure threshold” meaning that you may be more likely to experience a seizure during pregnancy. This can occur if you have a seizure disorder that was not resolved by your surgery. You may need an adjustment in your anti-seizure dosage during pregnancy to control your seizures more effectively. In rare cases, a seizure disorder may develop after a surgery. This could be caused by a number of factors. You may have had only partial removal of the malformation; you may have a remaining hemosiderin deposit (a blood breakdown product left behind after a cavernous malformation has hemorrhaged), or your brain may have been irritated by the surgery. Because of the lower seizure threshold, this may first become evident during a pregnancy. Seizures during pregnancy may be treated using anti-seizure medications. See below for more information about anti-seizure medication and pregnancy.
Although you have had only one cavernous malformation and it has been removed, there remains a small chance that you have the familial form of the illness. If you have a family history of neurovascular problems, it would be wise to consult with a genetic counselor and perhaps arrange for genetic testing before becoming pregnant. Multiple cavernous malformations not visible on regular MRI sequences may be evident on gradient echo MRI or susceptibility weighted MRI (an additional sequence that can be performed at the time of a regular MRI). If you have not had a gradient echo or susceptibility weighted MRI, you may want to have one to insure that you do not have multiple lesions that were missed on regular MRI test. If you or your partner has the familial form of the illness, each of your children will have a 50% risk of inheriting the disease.
I still have a solitary cavernous malformation that has not been surgically removed. What are my pregnancy risks?
Hormones released during pregnancy may reduce the “seizure threshold” meaning that you may be more likely to experience a seizure during pregnancy. This can occur if you have an already existing seizure disorder. You may need an adjustment in your anti-seizure dosage during pregnancy to control your seizures more effectively. Please see our discussion of the use of anti-seizure medications during pregnancy below. If your cavernous malformation is in the temporal lobe, this is more likely than in other areas of the brain. It would be wise to consult with a knowledgeable neurologist before becoming pregnant or early in your pregnancy to discuss this risk.
It has not yet been determined whether there is an increased risk of cavernous malformationhemorrhage during pregnancy. Some researchers believe that increased estrogen during pregnancy causes changes in the walls of cavernous malformations in such a way that they are more likely to leak.[2,3] Three recent studies however, suggest the risk of hemorrhage during the pregnant state is no different than in the non-pregnant state [4,5,6]. These studies have limited numbers of patients, but the vast majority of women complete a pregnancy without a hemorrhage or need for surgical removal of an angioma. However, pregnancy is a time of intense physiologic changes for mother and baby, and the consequences of hemorrhage or seizure may be more complicated than in the non-pregnant state. Any patient with neurovascular problems and/or epilepsy is urged to have their pregnancy overseen by a high risk obstetrician. Your obstetrician should work in close coordination with a neurologist or neurosurgeon that is familiar with your neurological history and who is knowledgeable about cavernous malformations and about epilepsy in pregnancy.
Although you have only one cavernous malformation, there remains a chance that you have multiple cavernous malformations or the familial form of the illness. You may want to consider undergoing a gradient echo or susceptibility weighted MRI (if not done previously) do exclude multiple lesions. If you have a family history of neurovascular problems, it would be wise to consult with a genetic counselor and perhaps arrange for genetic testing before becoming pregnant. If you or your partner has the familial form of the illness, each of your children will have a 50% chance of inheriting the disease.
I have multiple cavernous malformations. What are my pregnancy risks?
You would have the same seizure and hemorrhage risks described in the previous question concerning women with a solitary cavernous malformation.
In addition, because you have multiple cavernous malformations, it is highly likely that you have the genetic form of the illness that can be passed on to children. Each of your children will have a 50% chance of having the illness. It would be wise to consult with a genetic counselor and perhaps arrange for genetic testing before becoming pregnant. Please see the sections on genetic counseling and genetic testing below for more information.
The father of my child comes from a family with cavernous malformation. What are the risks?
Because the father of your child comes from a family with cavernous malformation, he may be at risk for having the genetic mutation. If he does, your child would have a 50% chance of inheriting the mutation. If the father of your child does not have a mutation, your child would have no greater chance of developing cavernous malformations than anyone else in the general population.
It would make sense for the father of your child to undergo genetic testing if possible, or to be screened with gradient echo or susceptibility weighted MRI to exclude cavernous malformations that he may be harbor but of which he might be unaware. Please see the sections on genetic counseling and genetic testing below for more information.
I have familial cavernous malformation, but my family members with the illness have not experienced symptoms of the illness until they reached their thirties. Do I need to worry about my child?
Unfortunately, research is indicating that the severity of familial cavernous malformations can vary greatly in the same family. One recent study out of France showed that families with the KRIT1 mutation can have affected family members who never develop symptoms while others develop symptoms at a young age. The number of cavernous malformations each individual had varied from person to person in the same family. There is no way to know ahead of time whether your child will be symptomatic or when. At this time, research is indicating that approximately 1/3 of individuals with familial cavernous malformations may never develop symptoms.
This material has been adapted from “Genetic Counseling” with permission from the Nemours Foundation, ©1995-2004 The Nemours Foundation. The original was reviewed by Linda Nicholson, MS, MC, Certified Genetics Counselor, Alfred I. duPont Hospital for Children, Wilmington, DE. This adaptation has been reviewed by Tracey Leedom, MS, Genetics Counselor, Duke University Medical Center, Durham, NC.
What Is Genetic Counseling?
Genetic counseling is the process of evaluating family history and medical records, ordering genetic tests, evaluating the results of this investigation, and helping parents understand and reach decisions about what to do next.
Genetic tests don’t yield easy-to-understand results. They can reveal the presence, absence, or malformation of genes or chromosomes. Deciphering what these complex tests mean is where a genetic counselor comes in.
Who Are Genetic Counselors?
Genetic counselors are professionals who have completed a master’s program in medical genetics and counseling skills. They then pass a certification exam administered by the American Board of Genetic Counseling. This profession has existed officially only since 1971, when the first class of master’s degree genetic counselors graduated from Sarah Lawrence College. (Interestingly, your counselor will probably be a “she.” According to a January 2000 survey by the National Society of Genetic Counselors, 94% of genetic counselors are female.)
Genetic counselors can help identify and interpret the risks of an inherited disorder, explain inheritance patterns, suggest testing, and lay out possible scenarios. (They refer you to a doctor or a laboratory for the actual tests.) They will explain the meaning of the medical science involved. They also provide support and address any emotional issues raised by the results of the genetic testing.
When Should We See One?
The best time to seek genetic counseling is before becoming pregnant, when a counselor can help assess your risk factors. But even after you become pregnant, a meeting with a genetic counselor can still be helpful. You should consider genetic counseling if any of the following risk factors apply to you:
- If either parent of the baby or a close relative has one or more cerebral cavernous malformations.
- If a standard prenatal screening test (such as the alpha fetoprotein test) yields an abnormal result.
- If an amniocentesis yields an unexpected result (such as a chromosomal defect in the unborn baby).
- If either parent or a close relative has another inherited disease or birth defect.
- If either parent already has children with other birth defects or genetic disorders.
- If the mother-to-be has had two or more miscarriages or babies that died in infancy.
- If the mother-to-be will be 35 or older when the baby is born. (Chances of having a child with Down syndrome increase with the mother’s age: a 35-year-old woman has a one in 350 chance of conceiving a child with Down syndrome. This chance increases to one in 110 by age 40 and one in 30 by age 45.)
- If parents are concerned about genetic defects that occur frequently in their ethnic or racial group. (African-American couples are most at risk for having a child with sickle cell anemia; Jewish couples of central or eastern European descent may be carriers of Tay-Sachs disease; couples of Italian, Greek, or Middle Eastern descent may carry the gene for thalassemia, a red blood cell disorder.)
What to Expect during a Visit with a Genetic Counselor
Before you meet with a genetic counselor in person, you will be asked to gather information about your family history. The counselor will want to know of any relatives with genetic disorders, multiple miscarriages, and early or unexplained deaths. The counselor will also want to look over your medical records, including any ultrasounds, prenatal test results, past pregnancies, and medications or you may have taken before or during pregnancy.
If more tests are necessary, the counselor will help you set up those appointments and track the paperwork. When results come in, the counselor will call you with the news. Often, counselor will encourage you to come in for a discussion.
The counselor will study your records before meeting with you so you can make the best use of your time together. During your session, he or she will go over any gaps or potential problem areas in your family or medical history. The counselor can then help you understand the inheritance patterns of any potential disorders and help assess your chances of having a child with those disorders.
He or she will distinguish between risks that every pregnancy faces and risks that you personally face. Even if you discover you have cerebral cavernous malformations, science cannot always predict the severity of the related disease. For instance, a child with CCM can have problems beginning in infancy or may not experience any problems throughout her lifetime.
You and your family will have to decide what to do next. Genetic counselors help you adjust to the difficulties and uncertainties you face and understand your options.
If you’ve learned prior to conception that you and/or your partner is at high risk for having a child with CCM, your options might include:
- pre-implantation diagnosis, which occurs when eggs that have been fertilized in vitro (in a laboratory, outside of the womb) are tested for defects at the 8-cell (blastocyst) stage – and only non-affected blastocysts are implanted in the uterus to establish a pregnancy. This option would be available to those with familial CCM and a previously identified mutation in the affected parent
- using donor sperm or donor eggs
If you’ve received a prenatal diagnosis of CCM, your options might include:
- preparing yourself for the challenges you may face when you have your baby
- ending the pregnancy
It is known that more than a third of children born with familial CCM never experience symptoms. There is no way of knowing whether this will be the case for any individual child.
Genetic counselors can share the experiences they’ve had with other families in your situation. But they will not suggest a particular course of action. A good genetic counselor understands that what is right for one family may not be right for another.
Genetic counselors can, however, refer you to specialists for further help. Your counselor might encourage you to meet with a neurosurgeon to discuss management options, and a neonatologist to discuss the care of a post-operative newborn. Genetic counselors can also refer you to social workers, support groups, or mental health professionals to help you adjust to and prepare for your complex new reality.
Finding a Genetic Counselor
Working with a genetic counselor can be reassuring and informative. Talk to your doctor if you feel you would benefit from genetic counseling. Many doctors have a list of local genetic counselors with whom they work. You can also contact the National Society for Genetic Counselors at 610-872-7608 orFYI@nsgc.org for more information. Also, there is a search feature available on the NSGC website atwww.nsgc.org that will allow you to see a listing of most genetic counselors in your area.
What tests are available to determine if I or the father of my baby can pass the illness on to our child?
Researchers believe that there are three genetic mutations that can cause familial cavernous malformations. Please see Genetics of Cavernous Angioma for more information about genes and the specifics of these mutations.
You can make arrangements for this testing through a genetic counselor or you may be eligible for help from Angioma Alliance. Further information is available in the Genetics and Genetic Testing section of our website.
If you or the father of your baby have multiple cavernous malformations or have a single cavernous malformation and a number of affected family members, it is likely that your child will have a 50% chance of inheriting the disease. You can use the genetic blood test to specify the mutation that has caused this. You can not prevent the illness from being passed to your child, but you may be able to use prenatal testing, if you desire, to know whether a fetus is affected late in the first or early in the second trimester of pregnancy.
Is there prenatal testing for familial cavernous malformation?
It is possible to test a fetus for the mutation that causes familial cavernous malformations if the exact mutation of the affected parent is known. At the time of this writing, this is possible for the KRIT1 and CCM2 mutations. The process is somewhat complex, but possible with pre-planning. The affected parent should enter a research study and submit a blood sample. The sample will be analyzed for a known mutation. This can take several months. If the parent has the KRIT1 or CCM2 mutation, they would then contact a genetic counselor and a custom prenatal testing laboratory. A list of custom prenatal labs can be found at GeneReviews. A genetic counselor would be able to help you sort through this list to determine which lab would suit your needs. The custom prenatal testing laboratory would ask for another blood sample and would contact the research lab for the information on the specific mutation. The custom prenatal lab will analyze the blood sample to confirm the results of the research lab. Then, when the mother becomes pregnant, she may undergo chorionic villus sampling between the weeks 10-12 of the pregnancy. Please speak to your obstetrician or visit the informational page on the BabyCenter website to learn more about the procedures and risks associated with CVS. The CVS sample is sent to the custom prenatal testing laboratory where it is analyzed for the known mutation.
Even if the results are positive for the cavernous malformation mutation, testing will not tell how severely affected the child will be by cavernous malformations. It would be a good idea to discuss the results of testing with a genetic counselor before making decisions about the pregnancy.
My husband and I need to use IVF to become pregnant. Can a blastocyst be tested before implantation?
Yes, if either parent has an identified mutation on the CCM1 or CCM2 gene, pre-implantation diagnosis, which occurs when eggs that have been fertilized in vitro (in a laboratory, outside of the womb) can be used to test for defects at the 8-cell (blastocyst) stage. Using this method, only non-affected blastocysts would be implanted in the uterus to establish a pregnancy. You would need to go through the same procedures described above for prenatal testing. The exact mutation in the parent would have to be identified and confirmed by a custom prenatal testing laboratory. The laboratory could then test the blastocyst for this mutation. The lack of mutation would need to be confirmed using either CVS or amniocentesis during the pregnancy. While this is all possible in theory, the cost of doing IVF with custom genetic testing and follow-up CVS or amniocentesis puts this option out of the reach of many families.
Monitoring and Treating Cavernous Malformations Before and During Pregnancy
Should I have my cavernous malformation surgically removed before I become pregnant?
Many neurosurgeons recommend that cavernous malformations that are symptomatic and accessible be removed before becoming pregnant. Because pregnancy can be a higher risk time for certain symptoms and because most women would want to avoid a brain surgery while they are pregnant or when their child is young, surgery before pregnancy may be a prudent choice for a woman with a symptomatic cavernous malformation.
Is it safe to have an MRI during pregnancy?
Yes, it is safe to have an MRI during pregnancy. Unlike a CT scan or a regular x-ray, there is no radiation involved in an MRI. An MRI can be used to diagnose cavernous malformations, to follow the course of pre-existing lesions or to assess if a new neurological symptom represents a bleed or lesion growth during pregnancy. Only a small amount of the injected contrast materials are thought to pass through the placental barrier to the fetus. This small amount has not been shown to cause harm in mouse and monkey studies, and is considered safe in humans.,
Can a fetus have an MRI?
A fetus can have an MRI, but currently this is done only in a few specialized university hospitals. The procedure is called “ultrafast fetal MRI” and allows doctors to take pictures of the fetus without having to paralyze the fetus or sedate the mother. With traditional MRI, fetal movement would often reduce the quality of the MRI pictures enough that they would not be useful for diagnosis. However, even with ultrafast fetal MRI, it is possible to miss a cavernous malformation. It is not a guarantee that an infant will be born without the disease. In fact, it is believed that most cavernous malformations in persons with the disease will form during life and not in utero. Hence a negative fetal MRI, even with optimized imaging, does not exclude the potential of forming new cavernous malformations later on. Most often, ultrafast fetal MRI is used if an ultrasound indicates a larger abnormality, such as hydrocephalus, that might be jeopardizing the life of the fetus. The MRI is used to help in making decisions about surgery before or immediately after birth.
I have a cavernous malformation and am experiencing increased neurological symptoms during my pregnancy. Could this be happening because I’m pregnant?
Some pregnancy symptoms resemble neurological symptoms, particularly late in pregnancy. When the fetus grows larger, it can cause tingling, numbness, or pain in extremities, sometimes for no known reason. Also, women who are pregnant often complain of short term memory deficits, although the real existence of this has been debated in the literature.
Headache is common during pregnancy. According to the BabyCenter.com Medical Advisory Board:
It’s not unusual to get tension headaches when you’re pregnant, especially in the first trimester. Tension headaches (which can feel like a squeezing pain or a dull ache on both sides of the head or the back of the neck) are the most common kind of headaches. If you’ve always been susceptible to them, pregnancy can make the problem worse. Experts don’t know exactly why carrying a child tends to make your head ache more often, but good guesses include the hormonal free-for-all your body is undergoing and changes in the way your blood circulates. Going cold turkey on caffeine can also make your head pound. Other potential culprits include lack of sleep or general fatigue, sinus congestion, allergies, eyestrain, stress, depression, and hunger or dehydration.
Migraine headaches are a different story. Migraines are a type of vascular headache that occurs when the blood vessels in your brain constrict and then dilate. Most people describe them as a severe throbbing pain usually on just one side of the head and often accompanied by nausea and vomiting. Experts estimate that about one in five women experience a migraine headache at some time in their lives, and about 15 percent of migraine sufferers get them for the first time in pregnancy (most commonly in the first trimester).”
Severe headache may also be a symptom of pre-eclampsia, a severe pregnancy complication that includes high blood pressure.
This does not mean that your cavernous malformation will not act up during your pregnancy. An MRI can be used to follow the course of pre-existing lesions or to assess if a neurological symptom represents a bleed or lesion growth during pregnancy. If you have any of these symptoms or others that you might associate with your cavernous malformation, it would be wise to consult with your obstetrician, neurologist, and neurosurgeon to discuss whether follow-up testing, such as an MRI, might in order.
I have a cavernous malformation. Can I have a vaginal delivery?
Most women with cavernous malformations do have vaginal deliveries without incident. However, the issue of concern is the increase in venous pressure that can result from pushing during labor. For women with cavernous malformations in areas that are more sensitive to small bleeds, such as the brainstem or spine, a caesarian delivery may be strongly recommended. For others, a caesarian delivery may be discussed as an option. A knowledgeable obstetrician can discuss these options with you.
Epilepsy and Pregnancy
I have a seizure disorder. How can this affect my fertility and pregnancy?
Below is a summary/restatement of information distributed to professionals by the American Epilepsy Foundation. The original information can be found at Pregnancy and Epilepsy.
More than 90 percent of women with epilepsy will have normal, healthy infants. However, it is very important to talk to your doctor about your risks for pregnancy and labor complications and the small risk of having a child with a birth defect. With proper prenatal care, these risks can be minimized.
Women with epilepsy taking certain anti-epileptic drugs may experience failure of hormonal birth control methods like the birth control pill or patch. Some of the medications (carbamazepine[Tegretol], oxcarbazepine [Trileptal], phenytoin [Dilantin], barbiturates (phenobarbital, mephobarbital, and primidone) and topiramate [Topamax]) may lower concentrations of estrogen and reduce the effectiveness of these birth control methods.
Women with epilepsy have fewer children than women in general, with a fertility rate 25 to 33 percent lower than average. While personal choice and/or societal pressure may play some role in this difference, research has indicated that women with epilepsy have a higher incidence of menstrual irregularities, polycystic ovarian disease and reproductive endocrine disorders. Any of these may reduce fertility.
Major Birth Defects
Major birth defects in an infant are defined as defects of medical, surgical or cosmetic importance. This type of problem, which will seriously affect a child’s life, occurs in 2 to 3 percent of all children born alive, whether or not a mother has epilepsy. For women with epilepsy on one seizure medication, the incidence is estimated to be 4 to 8 percent. For women taking more than one drug, the incidence is believed to be more than 8 percent. Types of major birth defects occurring most often in children of women with epilepsy are cleft palate, cardiac abnormalities and neural tube defects, e.g., spina bifida, anencephaly. However, this means that for women taking one anti-epileptic medication, there is a 92-98% chance that their baby will not have a major birth defect.
To reduce the risk of spina bifida and other neural tube defects it is especially important to take folic acid supplements (at a minimum dose of 0.4 mg daily) even before conception.
In general, women who need to use more than one anti-seizure medication and those with higher blood levels of anti-seizure medications are more likely to have a baby with birth defects than other women with epilepsy. Using just a single anti-epileptic medication at the lowest possible dose for efficacy is recommended whenever possible.
The incidence of minor physical defects in infants born to women with epilepsy is approximately 15 percent. Features such as hypertelorism (eyes set wide apart), epicanthal folds (skin of the upper eyelid from the nose to the inner side of the eyebrow covers the inner corner of the eye), shallow philtrum (the midline groove in the upper lip that runs from the top of the lip to the nose), distal digital hypoplasia (shortened fingertips), and simian creases (having only one crease across the palm instead of three) are often present as a familial trait even in women who do not have epilepsy. Although the incidence is reported as 2 to 3 times greater in women with epilepsy, these may be present in infants whose mothers use other types of medication or have excessive alcohol intake during pregnancy. These anomalies do not cause any serious problems and are primarily of cosmetic concern.
Other Central Nervous System Effects
A greater incidence of mental retardation and/or microcephaly (small head due to reduced brain growth) has been reported in children of women with epilepsy, but these studies have been inconsistent and have not always been controlled for other possible contributing factors (such as genetics, and the effects of maternal seizures or anti-epilepsy medications in utero).
However, developmental delays may be significant in terms of risk to infants of women with epilepsy. Factors that place a child at even higher risk include lower IQ scores in the mother and the use of more than one anti-epileptic medication during pregnancy (particularly exposure to phenobarbital in utero).
There is no increased risk of early fetal death (the not uncommon, spontaneous abortion within the first 20 weeks post-conception) in women with epilepsy. Late fetal loss (a stillbirth or spontaneous abortion after 20 weeks of pregnancy) shows an increased incidence in women with epilepsy, as much as twofold over the general population (2 to 7 percent of all pregnancies and 2 to 14 percent in women with epilepsy, depending on the study).
As stated earlier, there is a higher risk for adverse effects on the fetus when a mother is using more than one anti-epileptic medication during pregnancy. All commonly used anti-epileptic medications have been associated with birth defects. Some of the newer anti-epileptic medications have not been used in large enough numbers to have meaningful data.
Valproic acid [Depakote] (with a risk of 1 to 2 percent), and to a lesser degree, carbamazepine [Tegretol] (with a risk of 0.5 percent) have been associated with neural tube defects, specifically spina bifida. Taking a folate supplement before conceiving and throughout the childbearing years may minimize this risk.
Many experts believe that trimethadione [Troxidone,Tridione] is contraindicated in women with epilepsy who might become pregnant because it has been associated with a high incidence of miscarriage and birth defects.
All pregnant women taking anti-epileptic medications are encouraged to register with the North American AED Pregnancy Registry housed at Massachusetts General Hospital, Harvard Medical School. The toll free number is (888) 233-2334.
If you find that you are pregnant, do not abruptly withdraw from an anti-seizure medication. A major seizure can deprive a fetus of oxygen potentially causing damage to a developing brain. A fall or accident that results from a major seizure could injure both you and the fetus. Status epilepticus carries a high mortality rate for mother and fetus, and generalized seizures occurring during labor can result in severe slowing of the fetal heart. Instead, talk to your physician as soon as possible about these medication issues.
During pregnancy, one quarter to one third of women with epilepsy have an increase in seizure frequency despite continued use of anti-epileptic medications. During pregnancy women may have lower blood levels of their anti-seizure medications, even if they remain on the same dosage. This may be because of the increased blood volume and increased ability to clear the drug from the mother’s system that commonly occurs during pregnancy. Pregnant women should have the blood level of their anti-seizure medication checked frequently. Monitoring should continue for at least 8 weeks following delivery, as it is common for levels to rise in the postpartum period as blood volume decreases.
Other potential obstetrical problems seen more frequently in women with epilepsy are severe and excessive vomiting, vaginal bleeding, and anemia. Difficulties during labor and delivery include premature labor, failure to progress, and an increased rate of cesarean sections.
Hemorrhagic Disorder of the Newborn
This is a unique hemorrhagic disease of the newborn that can occur in the first 24 hours of life. Maternal anti-epileptic medications inhibit vitamin K transport across the placenta and the infant has an increased risk for bleeding. The risk can be reduced by maternal supplementation with oral vitamin K (at a dose of 10 mg/ day) during the last month of pregnancy. This specific neonatal disorder seems to be associated with exposure to anti-epileptic medications in utero (phenobarbital, primidone, phenytoin [Dilantin], and perhaps others).
Pregnancy for women with epilepsy does carry more risk than for women who do not have epilepsy. However, the odds of having a baby with no birth defects are more than 90% if you are taking only one anti-epileptic medication. Other ways to reduce your and your baby’s risks are to:
- work closely with an obstetrician and a neurologist who have experience with high risk pregnancies
take daily folate supplements during your childbearing years
remain on anti-seizure medication during pregnancy if you have a history of grand mal or tonic-clonic seizure
request frequent monitoring of your anti-epileptic medication blood levels during and after pregnancy
take vitamin K supplements during the last month of your pregnancy as directed by your doctor
Should I bank my newborn’s cord blood?
At this time, there is no way to use the stem cells from a newborn’s umbilical cord blood in treating cavernous malformations, but this does not mean that it will never be the case. Banking umbilical cord blood for potential future use of the stem cells in cavernous malformation treatment may be something to consider if your family is affected by familial cavernous malformation or if there is someone in your family who has an inoperable cavernous malformation.
Umbilical cord blood would only be useful from unaffected family members. If you have discovered through prenatal genetic testing that your child has the disorder, there is no reason to save the blood. With stem cell treatments, the cells of family members who do not have a disorder are used to treat those who do.
Umbilical cord blood banking is expensive and, right now, of questionable future use for our disorder. The American Acadamy of Pediatrics wrote the following recommendation in 1999: “Given the difficulty of making an accurate estimate of the need for autologous [donation from self] transplantation and the ready availability of allogeneic [donation from sibling or unrelated person] transplantation, private storage of cord blood as “biological insurance” is unwise. However, banking should be considered if there is a family member with a current or potential need to undergo stem cell transplantation.” Currently, stem cells from umbilical cord blood are being used to treat diseases that would otherwise require a matching bone marrow donor, such as leukemia.
I have the familial form of cavernous malformation. When should my child be tested to see if he or she has the illness?
It is a very individual decision, but physicians often recommend to their patients that children be screened before school age. If the screening shows no cavernous malformations, some also suggest re-screening every five years. Some parents have their children screened in infancy because they would like to know sooner rather than later if their child has the illness. MRI is sometimes easier with babies than with older children, and babies won’t remember the MRI. Some parents wait until their child is old enough to lie still for the MRI without sedation. Others never have their child screened unless there are symptoms because they want their kids to have as “normal” a childhood as possible. Please see our page on Testing Asymptomatic Children for further discussion of this issue. Please see the section entitled Children with Cavernous Angioma for more information about MRI procedures for children.
The screening MRI should include gradient echo or susceptibility weighted imaging, to exclude multiple cavernous malformations, and also contrast enhanced images to assess for associated developmental venous anomalies (venous angiomas) and other potential neurovascular problems.
Screening before school age is recommended for several reasons. First, it can allow parents to work with a school system to create a plan in case of a medical emergency. Second, cavernous malformations may play a role in learning or behavior problems a child might experience. Knowing whether a child has the condition can help in making decisions about how to address these problems. Third, parents would be able to make informed decisions about a child’s participation in activities such as contact sports. Fourth, teachers may notice symptoms of neurological deficit before parents. Knowing the diagnosis and what to watch for can help a teacher to become an extra set of eyes for your family.
Clinical diagnostic genetic testing is available for all three genetic forms of the illness. This means that a family will be able to submit a child’s blood sample to a lab rather than have the child undergo an MRI to determine if there is a mutation.
I have a cavernous malformation. Are there other issues I need to consider before becoming pregnant?
- If you have a cavernous malformation or if either parent has familial cavernous malformations, your pregnancy will be considered high risk. It is important to find anobstetrician who is comfortable managing high risk pregnancies, and who will work with your neurologist and neurosurgeon, if necessary to manage your care.
- Particularly in families affected by familial cavernous malformations, maintaining health insurance becomes essential. A single surgery can cost $30,000, at minimum, and can be much more. It would be wise to consider whether you have the resources to maintain health insurance should one parent lose a job. Continuing existing coverage even after obtaining a new job may be necessary because of pre-existing condition exclusions that are often found in new insurance coverage.
- If you have a cavernous malformation, you may require brain or spinal surgery at some time in your life. It would be wise to have a plan in place for taking care of your child in the event this becomes necessary.
- If you have a cavernous malformation, it may be possible that you will become disabled and have difficulty caring for a child. Again, it would be wise to have a plan in place for such a possibility.
Most women with cavernous malformations have successful pregnancies with minimal impact on their symptoms. With proper precautions and planning, the odds of having a successful pregnancy increase.
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