Parents of children with congenital heart disease - Scans, tests & decisions during pregnancy (2023)

Congenital heart disease in a baby can sometimes be detected during pregnancy when the mother has an ultrasound scan (usually at the 20 week scan). Mothers were first told that something might be wrong with their baby's heart during their normal antenatal scan, but another more detailed scan was required to find out more about the congenital heart defect. Some mothers had several more detailed scans to try to identify the type of defect (see Interview 06). In many cases the exact nature of the heart defects remained uncertain until after the baby was born and could be investigated further.

Mothers who become aware while having a scan that the doctors suspect there is something wrong can be very distressed. One explains that the way the cardiologist told her about the results of the scan helped her.

Describes the positive way the cardiologist handled communicating the results of her scan during...

Describes the positive way the cardiologist handled communicating the results of her scan during...

Viewfull profile

Sex: Female

See full profile




I think that the one that stands out was the fetal cardiologist who made the diagnosis really in that she, she very quickly clearly knew exactly what the problem was and she stopped and she, you know, she stopped and she talked to me and I cried and, you know, she comforted me and we, we had that conversation and she said 'I need to, I have stopped now because I know that there's something really, you know, it is very serious and she, and she is likely to have an, need an operation and it is a significant heart problem. And I need to do a lot more, you know, the echo and to do a lot more but, I know that you're going to be worried because you're going to see me doing it. It's really important for me to talk to you at this stage before I do all that'. And that was so right, you know. And I've not seen that sort of thing before. I'd seen other situations where people have just gone on doing the investigation until the end before they've talked and parents have been terrified. So that, that was a really good way of doing it and, you know, she was very, very sensitive in the way that she handled it.

Around half of all children with Down's syndrome have congenital heart disease(NHS Choices 2018). Parents whose baby has been shown to have a congenital heart problem on a scan will be offered the option during pregnancy to have an amniocentesis to find out if their baby also has Down's Syndrome or any other chromosomal disorders.One mother chose to have this test so that she could be prepared for the outcome. Another who was carrying twins chose not to, because of the risk to the healthy baby.

Explains why they decided to have an amniocentesis and the positive benefits of it.

(Video) Congenital Heart Disease: Choices During Pregnancy

Explains why they decided to have an amniocentesis and the positive benefits of it.

Viewfull profile

Sex: Female

See full profile




I mean the decision for the amniocentesis we thought that it was important to know exactly what she, well we were facing and she was facing really. And we thought that it would be really, we didn't know what we, you know, what, what we'd do depending the outcome but certainly we, we felt it was really important to know because we thought, well I thought in particular, I would find the whole pregnancy really, really hard and just, I would be really emotional and upset the whole pregnancy not knowing and the labour in particular would be awful because I would just not know. And I know with me it, for how I am, I'm always better if I know the facts than if I just imagining the worst. And so although it meant a procedure that had a risk to it that other, other people might've said it was unnecessary, you could have just waited until you had the baby, but I, we needed to know and, and I felt so much better knowing that we would have an answer really. But that wouldn't be right for everyone and I appreciate that. A lot of people would feel that, you know, they wouldn't, they would rather just, you know, just live with that anxiety whatever but that's not how, how I am really.

And actually one very positive benefit from that was I then knew the baby's sex and I knew she was a girl and that was really important because I was just fixing on this baby with a problem, the baby with a heart problem who was going to need treatment and didn't know how serious it was going to be. And to actually know that it was a girl, I wouldn't have minded knowing it was a boy either, but suddenly somehow to know that I, I knew, I could really, really bond with her and it just felt very different. It felt much more sort of human and much more real really.

After discovery of their baby's heart condition, parents were given an appointment with the cardiologist to discuss their options. Some decide to terminate the pregnancy when they receive a diagnosis, others opt for withholding treatment allowing their baby to die naturally after birth (see our site onEnding a pregnancy due to fetal abnormality for more experiences).

The parents we interviewed had all opted to proceed with the pregnancy, and chose to consent to surgery if it was needed.

Explain that they chose to proceed with the pregnancy and opt for surgery because they would not...

Text only

Parents of children with congenital heart disease - Scans, tests & decisions during pregnancy (3)

Read below

Explain that they chose to proceed with the pregnancy and opt for surgery because they would not...

Viewfull profile

Sex: Male

See full profile

(Video) Congenital Heart Disease and Pregnancy | Cincinnati Children's



OK well I found out that I was pregnant in August 2001 and I had my scan, my first scan at 5 months pregnant and they detected twins. Three weeks later I went back for a more detailed scan and they did a scan of the heart and that's when they picked up that one of the twins had a heart defect. So they got me to, an appointment to a hospital nearby and I had to go there the next day and I was basically given three options. They wanted me to have an amniocentesis but obviously with it being twins there's 50% chance of risk and I didn't want to take that chance so we said 'No' to an amniocentesis and we were sent home for the weekend with options. One was to abort, one was to carry on and let the baby, let the poorly twin die and have no surgery or the third option was to go through with it all and have surgery and that's what we decided to do.

How did you make those decisions? They're very hard decisions to make.

They were, yes but I wouldn't have aborted anyway. It was, I would have, I wanted to give, give it the best chance I had. I would rather have gone through the pregnancy and had surgery. That's just the way I am and my husband, we both agreed on that.

Quality of life was a key factor in forming many parents' decisions. Their religious convictions made some unwilling to consider termination.

Explain that quality of life was an important factor in their decision to proceed with her...

Explain that quality of life was an important factor in their decision to proceed with her...

Viewfull profile

Age at interview: 7

Sex: Male

(Video) Pregnant...with a Dangerous Heart Condition

See full profile




And so really we were, we were just totally devastated and our first thought was that that would be the end of it, we'd have to have a termination, we wouldn't be able to carry on with the pregnancy. After that afternoon we went back to, for another scan and to see the paediatric cardiologist of the hospital who is a wonderful man. He explained to us as much as he could see, he did a scan and then he explained, as far as he could what he could see was wrong with the baby's heart and possibly other associated conditions with, problems that there could be with the heart which he couldn't see at that stage. But he gave us the whole scenario and also the worst-case scenario which as it turned out was the case for the baby. But he also explained that the surgical intervention they could do, what they would probably do at different stages throughout his life and he also explained to us the quality of life that our baby could expect to have. And that was very important to us because at that stage you are faced with the decision, 'Do you continue with the pregnancy or do you, do you terminate?'

And my husband and I both felt that if our baby had a good chance of having a reasonably good quality of life, a normal life then we really had no choice. We continued with the pregnancy. Which is what we did.

One mother said it was a very hard decision to make because having a termination would have involved giving birth to her baby. Another couple said it had been a difficult decision because they were being told that there was a chance that their baby might be able to have corrective surgery. One mother explains that she learnt the sex of her baby through her amniocentesis and then looked at her pregnancy differently (see Interview 12).

It was difficult during pregnancy for the doctors to give them a complete diagnosis of their baby...

It was difficult during pregnancy for the doctors to give them a complete diagnosis of their baby...

Viewfull profile

Sex: Male

See full profile




I think the biggest thing for us was that every time we went to the hospital we was told well this is what we think is wrong. Which I know must be very, very difficult because at the end of the day their scanning your baby through your tummy and it's very hard. And they told us what they thought was wrong. But unfortunately for our daughter that she couldn't have corrective surgery, our surgeon, her heart it just had to be palliated. But they still said to us, "Well we think this is the problem but you know we may be slightly not quite right and when she's born we may be able to correct her heart depending on how certain things are". So when we was given the option of termination that was always in the back of our minds. Well how could we consider terminating a baby when the baby could have corrective heart surgery and everything could be fine so we found that really, really hard.

So when they said to us well come back in four weeks and we may be able to tell you more when the baby's bigger. And you can always still decide to go down the termination route. Which I think deep down we would never have gone down that route....

(Video) Congenital heart defects among mothers increase heart defect risk in children

Another couple whose baby was diagnosed with a serious heart condition at 32 weeks said that they had felt offended, that when they had sought a second opinion on the best treatment options they were offered the option of termination. Another mother who was having twins explains how she made the decision to proceed with the pregnancy.

A mother of twins describes how she decided to continue with her pregnancy when she was told one...

A mother of twins describes how she decided to continue with her pregnancy when she was told one...

Viewfull profile

Age at interview: 3

Sex: Male

See full profile




Well, I think various things. With the complete termination; a big factor for the decision was the fact that I was quite heavily pregnant by then and it was going to be quite traumatic because I would've had to actually have given birth to the babies and I think the thought of that, was just too much, I really don't think I could of gone thorough with that. The selective termination, there was such a high well, I think, statistically it was about a 15- 20% risk of a miscarriage, and I felt that that was too high risk.

And also the fact because I was having twins and there was a baby there that was perfectly healthy was a big factor as well. And, I thought, well, yes, they're telling me that I have a child here that has a major problem, but I also have a child here that is perfectly healthy, nothing wrong with him at all.

And when I spoke to consultants and the specialist nurses and so on, and their feeling was there was no risk to the healthy child if I continued with the pregnancy and they didn't feel also that there was any risk to me if continued with the pregnancy.

And my thought was really was that they've come this far and I feel that I ought to give them a chance. Ad it's up to them and I am a bit of a believer that sort of mother nature will take its course and I felt that if they weren't meant to be then I would've had a miscarriage. I'm not a religious person at all but I just do believe that, if something's not meant to be, then it won't happen. And I think, the fact that I had a healthy child there. The fact that I would've had to go through a pretty dreadful birth and I just felt, I ought to give them that chance. And if once they were born, if he didn't survive, then at least he'd been a chance to fight for life. And, I think that's what gave, made me decide that really, that, he deserved the chance, and really I suppose I just said, 'well it's up to you, boy. You try, you do what you think now.

Looking back, whether that was, I mean obviously for me it was totally the right decision because he's doing so well.

Last reviewed July 2018.

(Video) Heart to Heart Talks with the Stanford Doctors (fetal heart care)

Last updated July 2018.


What prenatal assessments are done for congenital heart defects? ›

An abnormal cardiac screen at 18–20 weeks routine ultrasonography is predictive of congenital heart disease and follow-up with fetal echocardiography is recommended. This should include a four-chamber view of the heart and outflow tracts, which will detect 60%–80% of cardiac defects.

How can detecting congenital heart defects early in the mother's womb help the healthcare professionals prolong the life of the infant? ›

Fetal echocardiography can help detect fetal heart abnormalities before birth, allowing for faster medical or surgical intervention once the baby is born if needed. This improves the chance of survival after delivery for babies with serious heart defects.

Why is prenatal diagnosis of congenital heart disease so important? ›

Prenatal diagnosis of critical CHD leads to appropriate prenatal multidisciplinary maternal and fetal care and delivery planning in an effort to decrease the risk of neonatal hemodynamic instability while transitioning to postnatal management in a pediatric cardiac center (4).

Which laboratory test is most useful for evaluating congenital heart diseases? ›

Echocardiogram. An echocardiogram is an ultrasound movie of the inside of the heart. It can detect nearly every congenital heart defect or any problem of the heart muscle function.

What are the two most common tests that check for possible birth defects during pregnancy? ›

First trimester screening is a combination of fetal ultrasound and maternal blood testing. This screening process can help determine the risk of the fetus having certain birth defects. Second trimester prenatal screening may include several blood tests called multiple markers.

In which stage of pregnancy is the risk for congenital abnormalities greatest? ›

Most birth defects occur in the first 3 months of pregnancy, when the organs of the baby are forming. This is a very important stage of development. However, some birth defects occur later in pregnancy. During the last six months of pregnancy, the tissues and organs continue to grow and develop.

Should I be concerned if my baby's ultrasound shows a heart defect? ›

The discovery of a major heart defect in utero is not necessarily life-threatening, she says. “The most common heart defects that we see, such as ventricular septal defects, are not lethal issues,” Dr. Chao says. “But about 25 percent of major heart defects are critical.”

Which is the main concern in a pregnant woman with cardiac disease? ›

The fetus of a gravida with cardiovascular disease also has an increased risk of morbidity, including an increased risk of inherited cardiac genetic disorders, fetal growth restriction, and premature delivery. These complications also increase the risk for antenatal and perinatal mortality.

How does congenital heart disease affect pregnancy? ›

Your congenital heart disease can affect your baby. Your baby may be smaller if your heart does not pump as efficiently as it should and delivers less oxygen and nutrients to the placenta and your developing baby. Babies may be born prematurely.

What causes congenital heart defects in fetus? ›

Some babies have heart defects because of changes in their individual genes or chromosomes. CHDs also are thought to be caused by a combination of genes and other factors, such as things in the environment, the mother's diet, the mother's health conditions, or the mother's medication use during pregnancy.

When do congenital heart defects occur in pregnancy? ›

Congenital heart defects happen in the first 8 weeks of the baby's development. Certain steps must take place for the heart to form correctly. Often congenital heart defects occur because 1 of these steps doesn't happen at the right time. For example, a hole is left where a dividing wall should have formed.

What are imaging studies that can be utilized to evaluate congenital heart disease? ›

Echocardiography is the primary imaging modality used for fetal cardiac imaging, with excellent diagnostic accuracy for most CHD except for atrial or ventricular septal defects, partially anomalous pulmonary venous connection, anomalies of the coronary arteries, and coarctation of the aorta.

What is the best scan to detect heart disease? ›

A coronary angiogram is a type of X-ray used to examine the coronary arteries supplying blood to your heart muscle. It's considered to be the best method of diagnosing coronary artery disease - conditions that affect the arteries surrounding the heart.

What are 3 tests that help recognize heart disease? ›

Besides blood tests and a chest X-ray, tests to diagnose heart disease can include:
  • Electrocardiogram (ECG or EKG). ...
  • Holter monitoring. ...
  • Echocardiogram. ...
  • Exercise tests or stress tests. ...
  • Cardiac catheterization. ...
  • Heart (cardiac) CT scan. ...
  • Heart (cardiac) magnetic resonance imaging (MRI) scan.
Aug 25, 2022

What are the pros and cons of genetic testing while pregnant? ›

The benefits to partaking in the genetic testing or diagnostic testing is that knowing the information in advance can help parents prepare themselves for a baby that may have special needs. However, these tests do slightly increase the risk of miscarriage and other pregnancy complications.

What are two tests for genetic disorders in pregnancy? ›

The most common diagnostic tests are amniocentesis and chorionic villus sampling (CVS). Amniocentesis: Your provider inserts a needle through your skin into your uterus to remove a sample of amniotic fluid from the amniotic sac. Amniocentesis happens between 16 and 20 weeks of pregnancy.

What genetic tests are done during pregnancy? ›

The cell-free DNA in a sample of a woman's blood can be screened for Down syndrome, Patau syndrome (trisomy 13), Edwards syndrome, and problems with the number of sex chromosomes. This test can be done starting at 10 weeks of pregnancy.

Should parents be genetically screened before having children? ›

The American College of Obstetricians and Gynecologists (ACOG) recommends carrier screenings for anyone who is planning to become pregnant or is currently pregnant. Ideally, testing should be done before conception so parents are aware of the risk of passing genetic conditions to their children.

What are the 4 types of tests for pregnancy? ›

This is usually done as part of multiple marker screening. Multiple marker screening comes in two varieties: the triple screen test and the quad screen test. The triple marker screen looks for three substances in the fetal blood or placenta: alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG) and estriol.

Which two diagnostic tests are used to determine if congenital abnormalities? ›

Diagnostic tests such as chorionic villus sampling and amniocentesis can be used to diagnose chromosomal abnormalities and infections in women at high risk.

Which trimester is most important for brain development? ›

The third trimester is brimming with rapid development of neurons and wiring. His brain roughly triples in weight during the last 13 weeks of pregnancy, growing from about 3.5 ounces at the end of the second trimester to almost 10.6 ounces at term.

During which trimester is a fetus most at risk for damage caused by mutation or genetic errors? ›

Teratogenic disorders occur when the baby is exposed to substances during pregnancy that cause abnormalities, otherwise known as “teratogens.” Babies are very sensitive in the first trimester, when all of the organs are developing.

Which trimester has the highest risk of anomalies? ›

Structural anomalies are often due to errors in embryogenesis occurring at critical periods of fetal development. Critical exposure periods during pregnancy can vary by organ system or type of anomaly. However, first trimester (gestational age 1–13 weeks) is generally considered the highest risk period.

Can fetal heart defects be misdiagnosed? ›

Conclusions: Congenital heart disease is misdiagnosed in tertiary care centers by both pediatric cardiologists and fetal imaging specialists.

Does congenital heart defect mean Down syndrome? ›

While the association between Down syndrome and congenital heart defects is well-known, the cause of heart defects isn't clear. Genetics, particularly the extra 21st chromosome that all children with Down syndrome have, likely play a role in the development of heart defects.

Can heart defects be misdiagnosed? ›

In a 2021 medical study, researchers discovered that “misdiagnosis of heart failure ranges from 16% to 68% depending on the setting.” Heart disease is commonly misdiagnosed or underdiagnosed by physicians due to the wide variety of comorbidities that share similar symptoms to heart disease.

Which trimester is the most critical for a pregnant woman with cardiac disease? ›

However, up to 23% of women experience heart failure or arrhythmia-related complications during pregnancy, most commonly in the third trimester or postpartum. Treatment should be tailored for specific indications (eg, β-blockers for LV outflow tract obstruction or arrhythmias).

Which maternal condition increases the risk for fetal heart defects? ›

Maternal diabetes

Women with diabetes have a higher risk of giving birth to a baby with congenital heart disease than women who don't have diabetes. This increased risk only applies to type 1 diabetes and type 2 diabetes.

Which cardiac disease has highest maternal mortality in pregnancy? ›

Hypertension (pregnancy in hypertensive women and hypertension aggravated by pregnancy) is probably the single most important cardiovascular risk factor linked to adverse maternal and neonatal outcomes in LMICs.

How does congenital heart disease affect a child's development? ›

A congenital heart defect or scarring from heart surgery may cause changes in the heart's rhythm. Slower growth and development (developmental delays). Children with more-serious congenital heart defects often develop and grow more slowly than do children who don't have heart defects.

What maternal disease can cause congenital heart disease? ›

It is also well established that maternal rubella infection during pregnancy can result in offspring with various congenital heart diseases.

What procedure is used prenatally to assess the presence of certain hereditary disease? ›

In pregnant women, genetic testing can be done on amniotic fluid (through amniocentesis) or the placenta (through chorionic villus sampling). Testing can also be done on an embryo during in vitro fertilization (IVF). Usually, it takes a few weeks for test results to be ready.

Which methods are used for screening of newborns for early diagnosis of congenital heart diseases? ›

Results Prenatal diagnosis by fetal echocardiography and postnatal detection by pulse oximetry combined with clinical assessment are the useful methods for CHD screening in most areas.

What are the prenatal detection rates for congenital heart disease? ›

The prenatal diagnosis rate of the 3 groups of CHD varied considerably (97.8% in group 1, 63.6% in group 2 and 65.9% in group 3). In the study by Durand et al. [7], these rates were 93%, 53% and 77%, respectively.

Which of the following prenatal diagnostic tests would detect spina bifida Down syndrome and congenital heart disease? ›

Amniocentesis is a prenatal procedure that your doctor may recommend you have during pregnancy. The test checks for fetal abnormalities (birth defects) such as Down syndrome, cystic fibrosis or spina bifida.


1. Parent-to-Parent: Tips For When Your Child Has Congenital Heart Disease | Boston Children's Hospital
(Boston Children's Hospital)
2. Coronavirus: Children, congenital heart disease (CHD), and Kawasaki Disease links to COVID-19
(Victor Chang Cardiac Research Institute)
3. Congenital Heart Defects Nursing | Learn Pediatric Cardiac Defects
(Simple Nursing)
4. Facebook Live: Myths about Sports Restrictions (for patients with CHD)
(St. Louis Children's Hospital)
5. Prenatal Magnetic Resonance Imaging to Diagnose Congenital Heart Defects
(JAMA Network)
6. Prenatal Heart Screening to Detect Congenital Heart Defects - Dr. Helena Gardiner
(Memorial Hermann)
Top Articles
Latest Posts
Article information

Author: Lakeisha Bayer VM

Last Updated: 07/26/2023

Views: 5603

Rating: 4.9 / 5 (69 voted)

Reviews: 92% of readers found this page helpful

Author information

Name: Lakeisha Bayer VM

Birthday: 1997-10-17

Address: Suite 835 34136 Adrian Mountains, Floydton, UT 81036

Phone: +3571527672278

Job: Manufacturing Agent

Hobby: Skimboarding, Photography, Roller skating, Knife making, Paintball, Embroidery, Gunsmithing

Introduction: My name is Lakeisha Bayer VM, I am a brainy, kind, enchanting, healthy, lovely, clean, witty person who loves writing and wants to share my knowledge and understanding with you.