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

FAQs

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.

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.

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).

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.

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.

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.

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.”

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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).

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.

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.

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.

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.

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.

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.

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.