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HOME/Heart Conditions/Future Pregnancy After CHD Diagnosis: 3 Things To Know

Future Pregnancy After CHD Diagnosis: 3 Things To Know

Future Pregnancy After CHD Diagnosis: 3 Things To Know
June 2, 2016
20 Comments
By: Peace Madueme, MD

If you have had a child born with a heart defect, you may be concerned that future pregnancies will result in a similar outcome.

Congenital heart defects (CHD) are common and impact more than 40,000 babies each year. The chance of having another baby with a heart defect depends on your child’s specific diagnosis, but in general, the risk is estimated to be between 2-3 percent. For comparison, the general population’s chance for having a baby with a heart defect is about one percent.

Sometimes, a baby’s heart defect is found during pregnancy. But often, heart defects are not found until after delivery leaving some parents to wonder: Why didn’t my doctor see this?

The reality is that many congenital heart defects do not become apparent until after the baby is born. This can leave parents feeling more anxious about their risk for future pregnancies.

If you have had a child with a congenital heart defect and are considering future pregnancies, here are some things to do before or immediately after becoming pregnant again:

1. Meet with a genetic counselor.

The exact cause of most heart defects is unknown, although the reason many heart defects occur is thought to be genetic. Most CHD is likely due to a combination of multiple genetic and environmental factors (multifactorial).

Individuals who have a personal or family history of CHD have a higher chance of a heart defect happening again in the family. For most people, the risk of having another child with a congenital heart defect ranges from 3-5 percent. However, for those who have particularly rare conditions, the risk can go up to 50%. But even then, it’s best to work with a genetic counselor to help interpret the results because so many different factors go into the percent of risk. For instance, if a child has 22q11.2 deletion syndrome, the chances of that parent having another child with the condition is 50% only if the parent is also affected by the condition. If the parent is not affected by the condition, the risk is far less.  

You can meet with a genetic counselor before, during or after a pregnancy. A genetic counselor can give you more information about causes of CHD and can provide you with more specific information about the chance for CHD in future children and other family members. Most often, the chance of having another child with a CHD is 2-3 percent.  

Most often, individuals have isolated CHD, meaning the heart problem is not related to an underlying genetic condition. Some genetic conditions are associated with a high risk for congenital heart disease, such as:

   –  Down syndrome
   –  AV Canal defect
   –  Ventricular septal defect
   –  Deletion 22q11.2 syndrome 
   –  Truncus arteriosus
   –  Tetralogy of Fallot
   –  Right ventricular outflow tract obstruction
   –  Williams syndrome
   –  Supravalvar aortic stenosis

Not every individual with one of these types of heart defects has a genetic condition. However, if your child has other medical or developmental conditions, you should talk with your doctor about evaluation with a clinical geneticist.

2. Get a fetal echo between 18 and 24 weeks with all future pregnancies.

Fetal echocardiograms are not routine for most women, especially if there is no history or known risk of congenital heart disease (CHD). But if you have had a child with CHD, we recommend that you receive a fetal echocardiogram between 18 and 24 weeks of your pregnancy. The test takes about 45 minutes and allows for a more detailed evaluation of the structure and function of the heart than with routine ultrasound screening.  

It is important to understand that fetal echo technology is very good, but is not perfect. Fetal echo often identifies significant cardiac abnormalities but may miss more subtle or mild forms of congenital heart disease due to the different flow of blood while in utero that changes after birth.  

The fetal heart at 18-24 weeks is very small and optimal images are sometimes not possible secondary to other technical factors. The diagnosis will ALWAYS need to be confirmed postnatally with an echocardiogram prior to any decisions regarding management or repair. Despite these limitations, fetal echo has been shown to be very useful with respect to delivery planning, surgical planning and counseling/education for the family.

3. If your fetal echocardiogram is abnormal, meet with a maternal fetal medicine (MFM) specialist.  

Meeting with a maternal fetal medicine (MFM) specialist is typically the next step after receiving an abnormal fetal echo. MFMs work closely with other providers to ensure the best care before, during and after childbirth, and will coordinate your delivery and ensure that your baby is delivered at a suitable location with appropriate level 3 nursery capabilities. They will coordinate the delivery plan and work closely with the cardiologist to ensure that timing of delivery is optimal for the safety of mother and the baby.  

Often times, additional maternal monitoring may be necessary if other factors are involved such as advanced maternal age, diabetes or blood pressure concerns. In rare occasions, medication may be given to the mother which gets circulated by the placenta, and thereby treats the baby.  

In conclusion, fetal echocardiography is a powerful tool that can help identify significant cardiac abnormalities and allows for family, delivery and interventional planning as necessary. The vast majority of fetal echocardiograms are normal or have very minor heart disease that will never require intervention, even in the setting of a prior child with CHD.

Remember that it’s most likely future children will not have CHD. The risk of having another child with a heart defect depends on many factors but for the majority of people, it ranges from 3-5 percent (but can go up to 50%, for those who have rare conditions). Following these steps with future pregnancies – meeting with a genetic counselor, obtaining a comprehensive fetal echo and meeting with a MFM – can help lessen your anxiety about future risk and ensure that if there are risks, you and your physicians will be well prepared.

If you’re considering pregnancy after having a child with a CHD, call 513-636-2371 to speak with someone in our Heart Institute about genetic counseling.

Editor’s note: This blog post was written in conjunction with Erin Miller, MS, a licensed genetic counselor at Cincinnati Children’s Heart Institute. She specializes in cardiovascular genetics, and her research interests include the impact of clinical genetic testing and cardiac screening recommendations on family members.


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TAGS:
  • adult congenital heart disease
  • pregnancy

About the author: Peace Madueme, MD

Peace Madueme, MD, is a pediatric cardiologist at Cincinnati Children’s Heart Institute. He has an interest in advanced cardiac imaging and specializes in cardiac MRI/CT, echocardiography and fetal echocardiography.

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Anna March 29, 2020 at 11:47 am

Hello my name is Anna Rudolph and i had my baby girl on December 6th, 2019 and she passed away suddenly December 8th 2019. Her autopsy concluded a congenital heart defect called Hypo Plastic Left heart Syndrome. My medical records stated clearly that the heart could not be visualized my second trimester and 3rd trimester and i was never referred for an echo or a specialist. We are newly weds and she was our first baby, but we’d like to try again in late November -early December. I’m just curious as to how to go about the genetic testing? Do we both get tested? Should I have immediate family tested? I am just so worried something will always be wrong with our babies from here on out.

    Avatar photo
    Rachel Camper April 1, 2020 at 12:09 pm

    Hi Anna, I reached out to one of our genetic counselors, and here’s her response:

    Hello Anna,

    Thank you for your message. I’m so very sorry to hear about your daughter. It’s completely understandable that you are concerned about the health of future children. As you may know, heart defects (hypoplastic left heart syndrome, or HLHS, is one type) are a common type of birth defect. Most of the time, individuals with HLHS do not have a genetic condition and the heart defect is the only medical problem. There is not a genetic test to identify the cause of HLHS. We do know, however, that once a couple has a baby with a heart defect, there is a higher chance for future children to have a heart defect as well. In general, the chance to have another baby with a heart defect after having a baby with HLHS ranges from 20-25%. The specific risks for your family may be different than this depending on additional family and medical history information. It’s possible to have a future baby with a heart defect other than HLHS.

    You have the option to meet with a genetic counselor before or after becoming pregnant. The genetic counselor can review your complete family history and provide more specific information about risk for heart defects in future pregnancies. There may also be recommendations for other people in the family to have heart screening. In addition, there are other prenatal screening and testing options available to all couples planning or expecting a baby.

    When you are pregnant again, you should be offered a special ultrasound to closely look at the baby’s heart (fetal echocardiogram). This can be done around 14-16 weeks of the pregnancy to specifically look for HLHS or other major heart defects. You would need to have the fetal echocardiogram repeated around 20 weeks to look at more minor structures of the heart that may not be visible earlier in the pregnancy. If the fetal echocardiogram is normal, you can be reassured about the health of your baby’s heart.

    Feel free to call my office number and I will be happy to discuss your particular situation further: 513-636-4729

    Thank you, Erin Miller

      Eli June 9, 2022 at 12:13 pm

      Hi there. During a 20 week anatomy scan (and further fetal echo) our son was diagnosed with Pulmonary Atresia with Intact Ventricular Septum and (almost) atretic Tricuspid Valve, causing Hypoplastic Right Heart Syndrome. I had an amniocentesis done, with further genetic testing (unsure as to exactly what), we received a report which I couldn’t understand; there were a few things that were flagged up on the report regarding these genes: ABCC6 and CHRNE. The ObGyn doctor said that in terms of chromosomal or genetic abnormalities, everything has come back “normal” in terms of causes for the heart defects.

      I’d like to know what the likelihood is of CHD occuring again in future pregnancies?
      Many thanks

        Cincinnati Children's logo
        Social Media Team June 14, 2022 at 6:27 am

        Hi Eli,

        We reached out to our cardiovascular genetic counselors, and here are their thoughts in response to your question:

        In situations where genetic testing does not identify a cause for a patient’s heart defect, we use estimated risks for CHD to happen again in the family. For your son’s diagnosis of pulmonary atresia with intact ventricular septum and subsequent hypoplastic right heart syndrome, the estimated risk for having another child with a heart defect is ~3-5%. You should be offered a fetal echocardiogram in future pregnancies (around 14-16 weeks, and again around 20 weeks into the pregnancy). A normal fetal echocardiogram could provide you with reassurance, and if a heart defect is present would provide you with time to learn about the heart problem and make plans for care after the baby is born.

        For your son’s prior genetic testing results, I recommend you request these results be reviewed by a board certified genetic counselor every 3-5 years. It is possible updated information about the flagged genes will become available over time that may be helpful to know.

        If you would like to speak with a genetic counselor more specifically about your family, the Heart Institute at CCHMC has three boar certified genetic counselors who specialize in heart disease. You can schedule an appointment by calling 513-636-4432 or online at https://www.cincinnatichildrens.org/service/h/human-genetics > schedule online > Yes, schedule an appointment > Cardiology Genetic Counseling (Telehealth).

sahu April 8, 2020 at 4:47 pm

Hello doctor, My wife had a miscarriage(9-10 weeks) on 26th August 2019 and and in November 24, 2019 ( 1st intercourse after miscarriage) and she got pregnant.Unfortunately, in 19-20 week we went for fetal echo and baby was detected with Pulmonary Atresia and few more defects in heart and doctor advised for abortion and we went for it(3rd April 2020.
Now, we have given the conception product for micro-array (genetic testing) and results awaited.In last miscarriage too we went for micro-array and it was normal.
I want to know that what is the chance of having CHD in future pregnancy and what precaution we should take now before planning for next baby so that everything goes fine as we are not having any child.
My wife age is 31 yrs n 10 months old and I am 35.5 years of age and both are b positive blood groups and having no medical problems except that I am obese but my wife is fit.

    Avatar photo
    Rachel Camper April 13, 2020 at 6:28 am

    Hi sahu,

    I reached out to one of our genetic counselors and here’s her response:

    Hello. I’m sorry to hear about your previous pregnancy losses. As you may know, miscarriage early in pregnancy is quite common. It’s possible your prior pregnancy losses may have unrelated causes. I think it’s important that you have an opportunity to meet with someone for preconception counseling. This would allow for discussion about rates of miscarriage, the results of any genetic testing that has been completed, potential for having a future baby with a heart defect, and additional recommendations for screening and testing in future pregnancies. There is one genetic condition that can be seen more often in babies with pulmonary atresia, 22q11.2 deletion syndrome. This would be identified on chromosome microarray. Most individuals with an isolated heart defect (no other birth defects or health problems) have a normal microarray. However, once a couple has a baby with a heart defect, there is the a slightly higher chance for having another baby with a heart defect. The specific chance for you and your wife to have another baby with a heart defect will depend on what the genetic testing shows. If the microarray is normal or negative, the chance to have another baby with a heart defect is likely between 2 and 3%. When you and your wife are pregnant again, you should be offered a special ultrasound to closely look at the baby’s heart (fetal echocardiogram). This can be done around 14-16 weeks of the pregnancy to specifically look for pulmonary atresia or other major heart defects. The fetal echocardiogram should be repeated around 20 weeks to look at more minor structures of the heart that may not be visible earlier in the pregnancy. If the fetal echocardiogram is normal, you can be reassured about the health of your baby’s heart. There is a very good chance that you and your wife will be able to have healthy children. We do have genetics providers here at Cincinnati Children’s with expertise in the genetics of heart disease. If you are interested in being seen here, please feel free to call my office number and I will be happy to discuss your particular situation further: 513-636-4729

    Thank you, Erin Miller

Shelby Nickell April 9, 2020 at 1:21 am

Hello! My name is Shelby Nickell. My daughter was born with Tetralogy of Fallot with pulmonary atresia and mapcas. The only thing they saw genetically was a mutated jag1 gene? I’m curious to know if I choose to have another baby if the same thing will happen.

    Avatar photo
    Rachel Camper April 13, 2020 at 6:30 am

    Hi Shelby,

    I passed your question along to one of our genetic counselors. Here’s her response:

    I hope your daughter is doing well. Individuals with mutations in the JAG1 gene can have a genetic condition called Alagille syndrome. Not all genetic changes in the JAG1 gene cause this condition, and some may cause no health problems at all. Individuals with Alagille syndrome can have tetralogy of Fallot, but not all individuals with this type of heart defect have Alagille syndrome. Without reviewing your daughter’s genetic testing results and medical history, it’s not possible to say for sure if the JAG1 gene change is the cause of her heart disease. Mutations in JAG1 can be inherited from a parent, or can occur for the first time in an individual. If you and your partner have not had genetic testing, this may be recommended and would be important for understanding risk for future children. If an individuals has a mutation in JAG1, each of their children will have a 50% chance of inheriting the same genetic change. Not all individuals with JAG1 mutations have a heart defect. And, mutations in the JAG1 gene can be associated with an increased risk for other health problems, too. I think it’s important to discuss your daughter’s genetic testing results with a genetics provider. They can provide you information about your daughter’s diagnosis and health, as well as information about potential risks for future children and other family members. There are genetic counselors and geneticists at Cincinnati Children’s with expertise in the genetics of heart disease. If you are interested in being seen here, please feel free to call my office number and I will be happy to discuss your particular situation further: 513-636-4729

    Thank you, Erin Miller

      Clau June 4, 2020 at 7:37 pm

      Hello. I had a daughter June 2019. That pregnancy went very well, no complications, she is perfect, meeting every milestone and will be one soon. After giving birth to her June 2019, I took in again October 2019. All appeared to be well until I had an ultrasound at about 18weeks I believe and discovered there was something wrong with his heart. My cord had one vein and one artery. He was diagnosed with hlhs. An amniocentesis was performed and no gene abnormalities found. The genetics counselor recommended testing for noonan’s syndrome but we chose not to. My husband and I decided not to continue with the pregnancy and terminated in mid March. We wish to try again soon and have a couple of questions please? How long should we wait before trying to conceive? What are the chances of having another child with hlhs or other cardiac defects? The fetal cardiologist said they have no idea what may have caused hlhs in my child but I wonder if there are any precautions I can take to increase my chance of having a healthy pregnancy.

        Avatar photo
        Rachel Camper June 19, 2020 at 7:59 am

        Hi Clau,

        Thank you for your question. I forwarded it to one of our genetic counselors. Here’s her response:

        Congenital heart defects (hypoplastic left heart syndrome, or HLHS, is one type) are quite common. About 1 in 100 babies are born with some type of structural difference in their heart. Some of these heart defects are severe and require surgery , while others are not. Most of the time, the exact cause of a heart defect is unknown. Most heart defects are likely due to a combination of multiple genetic and environmental factors (multifactorial). Most of the time, individuals with HLHS do not have a genetic condition and the heart defect is the only medical problem. We do know, however, that once a couple has a baby with a heart defect, there is a higher chance for future children to have a heart defect as well. In general, the chance to have another baby with a heart defect after having a pregnancy with HLHS ranges from 20-25%. The specific risks for your family may be different than this depending on additional family and medical history information. It’s possible to have a future baby with a heart defect other than HLHS.

        You have the option to meet with a genetic counselor before or after becoming pregnant. The genetic counselor can review your complete family history and provide more specific information about risk for heart defects in future pregnancies. There may also be recommendations for other people in the family to have heart screening. In addition, there are other prenatal screening and testing options available to all couples planning or expecting a baby.

        When you are pregnant again, you should be offered a special ultrasound to closely look at the baby’s heart (fetal echocardiogram). This can be done around 14-16 weeks of the pregnancy to specifically look for HLHS or other major heart defects. You would need to have the fetal echocardiogram repeated around 20 weeks to look at more minor structures of the heart that may not be visible earlier in the pregnancy. If the fetal echocardiogram is normal, you can be reassured about the health of your baby’s heart.

        There are genetic counselors and geneticists at Cincinnati Children’s with expertise in the genetics of heart disease. If you are interested in being seen here, please feel free to call my office number and I will be happy to discuss your particular situation further: 513-636-4729 Thank you, Erin Miller

Hazel March 29, 2022 at 6:48 am

Hi there. My daughter was born with Coarctation of the aorta, TGA, and AVSD. She sadly died when she was 3mths old after two surgeries. We have asked our hospital several times what are the chances of this happening again in subsequent pregnancies, and never had a reply. Are you able to make any suggestions? (It was anticipated that she would survive her surgeries and have a pretty normal life, so we believe that even if we had another baby with these problems, it wouldn’t necessarily have the same outcome). Many thanks.

    Cincinnati Children's logo
    Social Media Team June 14, 2022 at 6:37 am

    Hi Hazel,

    We reached out to our genetic counselors and they have responded to your question:

    I’m so sorry to hear that your daughter passed away. After having a child with a heart defect, there is an increased chance for a future child to have a heart defect as well. The chance can vary and often depends on whether anyone else in the family has a heart defect. The estimated chance of having a future child with a heart defect is likely between 3-5%, compared to around 1% for the general population. You should be offered a fetal echocardiogram in future pregnancies (around 14-16 weeks, and again around 20 weeks into the pregnancy). A normal fetal echocardiogram could provide you with reassurance, and if a heart defect is present would provide you with time to learn about the heart problem and make plans for care after the baby is born.

    If you would like to speak with a genetic counselor more specifically about your family, the Heart Institute at CCHMC has three board certified genetic counselors who specialize in heart disease. You can schedule an appointment by calling 513-636-4432 or online at https://www.cincinnatichildrens.org/service/h/human-genetics > select schedule online > Yes, schedule an appointment > Cardiology Genetic Counseling (Telehealth).

Neen April 19, 2022 at 7:08 am

My 8 year old has, HLHS, we didn’t do any tests find the reason, her father and I are longer together, what would be the chances of this condition occurring if I have a kid with another?

    Cincinnati Children's logo
    Social Media Team June 14, 2022 at 6:34 am

    Hi Neen,

    We reached out to our genetic counselors and here is their reply to your question:

    HLHS is a type of left-sided heart defect. In general, this group of heart defects are more likely to run in families compared to other types of heart defects. There is genetic testing for individuals with HLHS, and other types of heart defects, that may be appropriate for your family. Typically, genetic testing is initiated in the affected person, or person with the heart defect. Genetic testing can be done on a blood sample, and sometimes a cheek swab. If genetic testing does not identify a cause for the heart defect, or hasn’t been completed, we use estimated risks for CHD to happen again the family. For HLHS, the risk for having another child with any type of heart defect (not specifically HLHS) is 20-22%, and the risk for HLHS specifically is ~8%. Most of these risk estimates are based on the same mother and father. For your specific situation, these risks are likely lower. You should be offered a fetal echocardiogram in future pregnancies (around 14-16 weeks, and again around 20 weeks into the pregnancy). In addition, you should have a screening echocardiogram if you haven’t already. Family members of someone with HLHS are at increased risk to have more mild heart defects themselves that can cause health problems later in life.

    If you would like to speak with a genetic counselor more specifically about your family, the Heart Institute at CCHMC has three board certified genetic counselors who specialize in heart disease. You can schedule an appointment by calling 513-636-4432 or online at https://www.cincinnatichildrens.org/service/h/human-genetics > select schedule online > Yes, schedule an appointment > Cardiology Genetic Counseling (Telehealth).

Rose April 27, 2022 at 1:16 pm

Hi, My brother now 23 years was born with a number of heart defects, he required extensive surgery under the age of 1. He fully recovered and now has a heart of a ”normal” person he’s age, he plays sports and is very fit. My parents don’t have a whole lot of information about he’s heart defects, as the surgery took place in another country in the EU. I should note that my parents researched their family tree to see if anyone else had a similar defect, my mum had two aunts die at a very young age one being 1.5 years old and another 16 years, they said the older one had pneumonia, but doctors speculated that the 1.5 year old may have died from a similar heart defect, but again that’s just speculation. I know medicine has advanced a lot but I am wondering what would the chances of me having children with a heart defect?

    Cincinnati Children's logo
    Social Media Team June 14, 2022 at 6:30 am

    Hi Rose,

    We reached out to our cardiovascular genetic counselors, and here are their thoughts on your question:

    Having a sibling with a heart defect does slightly increase the chance for you to have a child with a heart defect as well. The chance can vary and often depends on the specific type of heart defect. The risk for birth defects in any pregnancy is 3-5%, which includes heart defects. You should be offered a fetal echocardiogram in future pregnancies (around 14-16 weeks, and again around 20 weeks into the pregnancy). A normal fetal echocardiogram could provide you with reassurance, and if a heart defect is present, would provide you with time to learn about the heart problem and make plans for care after the baby is born.

    If you would like to speak with a genetic counselor more specifically about your family, the Heart Institute at CCHMC has three board certified genetic counselors who specialize in heart disease. You can schedule an appointment by calling 513-636-4432 or online at https://www.cincinnatichildrens.org/service/h/human-genetics > select schedule online > Yes, schedule an appointment > Cardiology Genetic Counseling (Telehealth).

melissa May 29, 2022 at 9:26 am

my daughter is 25 and 5 weeks pregnant with her third child. Her first has aortic valve stenosis detected after birth her second has HLHS/shones complex. All three children have different fathers and none have heart problems in their families that are known of. My daughter is healthy and the only thing on our side of the family is my grandmother’s last child died at the age of 22 months back in 1979 and her diagnosis was a hole in the heart. My daughter was told after her son(child 1) that there was less than a 5% chance of having another baby with a heart issue; so when she had the special heart sonogram done at 20wks with daughter(2nd child) she was devastated. With COVID going on now she cant be seen for another three weeks and she is extremely scared. Her children are rare as they both were born bicuspid valve. On the bright side both are very happy and healthy other than heart issues. As grandma who has to be there for it all just a little insight would be appreciated. Thank you for your time.

    Cincinnati Children's logo
    Social Media Team June 14, 2022 at 6:23 am

    Hi Melissa,

    We reached out to our cardiovascular genetic counselors, and here’s their reply:

    Bicuspid aortic valve (BAV) is the most common congenital cardiac malformation. When someone is identified to have a BAV, there is a 10% chance of identification of a BAV in a first degree. For this reason, the American Heart Association guidelines suggest a screening echocardiogram for first degree relatives. Further, BAV, aortic valve stenosis, and HLHS are left-sided heart defects. In general, left-sided heart defects are more likely to run in families compared to other types of heart defects. There is genetic testing for individuals with these type of heart defects may be appropriate for your daughter’s children. Genetic testing is typically most appropriate for an affected person, or person with the heart defect, such as your grandchildren. Genetic testing can be done on a blood sample, and sometimes a cheek swab. If genetic testing does not identify a cause for the history of CHD in your grandchildren, we use estimated risks for CHD to happen again the family. For families with left-sided heart defects, the risk for having another child with any type of heart defect (not specifically HLHS) is 20-22%, up to 36% for aortic valve stenosis, and the risk for HLHS specifically is ~8%. Most of these risk estimates are based on the same mother and father.

    Your daughter should be offered a fetal echocardiogram in all future pregnancies (around 14-16 weeks, and again around 20 weeks into the pregnancy) due to her history of having children with heart defects. A fetal echocardiogram will provide a comprehensive look at the baby’s heart during pregnancy and can allow for planning ahead of time, if a heart defect was detected.

    If you would like to speak with a genetic counselor more specifically about your family, the Heart Institute at CCHMC has three boar certified genetic counselors who specialize in heart disease. You can schedule an appointment by calling 513-636-4432 or online at https://www.cincinnatichildrens.org/service/h/human-genetics > schedule online > Yes, schedule an appointment > Cardiology Genetic Counseling (Telehealth).

Allison December 12, 2022 at 12:54 am

Hello,
My son was born with Supravalvar aortic stenosis + pulmonary artery stenosis.
Due to this defect being common in those with Williams syndrome it was highly suggested to have genetic testing.
We had a microarray test done.
My son has a deletion on the ELN gene as well as other genes around the ELN gene, missing a total of 10 genes.
Our CHD worrior is our first born. We are discussing us expanding our family. It has been suggested for us to have genetic testing done.
Is there a higher chance we would have another child with CHD or are the odds still low (3-5%) with his diagnosis being random and not the whole Williams syndrome gene deletion?
Thank you
Allison

    Cincinnati Children's logo
    Cincinnati Children's Social Media Team January 4, 2023 at 5:33 am

    Hi Allison,

    We contacted one of our genetic counselors for her perspective. Here’s her response:

    Understanding the genetic cause for CHD in your heart warrior is helpful for providing more accurate risk estimates to have future children with CHD. If the gene deletion in your son was new in him, meaning you and your partner have had genetic testing and were found NOT to have the same gene deletion, then the chance of having a future child with a heart defect would be similar to the incidence of CHD in the general population. CHDs are the most common birth defect, and about 0.7% of all babies are born with some type of structural difference in the heart ranging from mild to severe. If you or your partner does have the deletion, then the chance of having a baby with a heart defect would be higher. You can be offered a fetal echocardiogram in a future pregnancy as early as 14-16 weeks, with additional heart imaging again around 20 weeks. I would recommend you have the opportunity to meet with a genetic counselor to specifically discuss your son’s genetic testing results and family history so that you have the most accurate and complete information. If you have not yet had genetic testing for the deletion identified in your son, a genetic counselor could help facilitate this for you. There are many ways to access genetic counseling services. Cincinnati Children’s has three board certified genetic counselors who specialize in congenital and other types of heart disease. Visits are available by telehealth (OH, KY, IN, WV and TN). You can also search for a genetic counselor using the following resource: https://findageneticcounselor.nsgc.org/.

    Erin Miller, MS, CGC

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