Can tetralogy of Fallot be detected by prenatal screening?

Written by Du Rui Xia
Obstetrics
Updated on May 04, 2025
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During prenatal check-ups for fetuses diagnosed with Tetralogy of Fallot, the condition can be detected. A four-dimensional color Doppler ultrasound can be performed in the mid-pregnancy stage, allowing observation of the fetus's development, such as the brain, kidneys, skeleton, and heart. Therefore, using four-dimensional color Doppler ultrasound checks can identify congenital heart diseases. When Tetralogy of Fallot is diagnosed, deciding whether to continue with the pregnancy or terminate it is a major concern for the pregnant woman. Cardiac malformations in the fetus can also be surgically treated after birth.

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Written by Chen Guang Yin
Cardiology
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Does Tetralogy of Fallot involve chromosomal abnormalities?

Tetralogy of Fallot is primarily a developmental disorder, generally unrelated to chromosomes, with no chromosomal abnormalities. The cause of the disease is still not very clear. If pregnant again and giving birth again, it generally does not recur. Therefore, couples undergoing chromosomal testing before pregnancy is a common practice. It is generally believed that the four malformations in Tetralogy of Fallot occur due to viral infections acquired by the fetus during pregnancy, the mother consuming alcohol, or the use of certain medications during pregnancy. Currently, these are considered related factors, and so far, no abnormalities have been found related to genetics or chromosomes.

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Written by Chen Guang Yin
Cardiology
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Can Tetralogy of Fallot receive oxygen therapy?

Tetralogy of Fallot is a congenital heart defect that includes abnormalities such as ventricular septal defects, pulmonary valve stenosis, and stenosis of the right ventricular outflow tract. Due to these congenital defects, the ejection of blood from the heart is affected, which in turn impacts the blood supply to various systems and organs throughout the body. The patient may exhibit symptoms of cyanosis and hypoxia, especially after physical activity, hence the use of supplemental oxygen is advisable. While oxygen therapy can temporarily alleviate these hypoxic symptoms, it does not address the underlying issue. Surgery is necessary for a definitive resolution.

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Written by Hu Qi Feng
Pediatrics
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Tetralogy of Fallot Common Symptoms

The clinical manifestations of Tetralogy of Fallot include, firstly, cyanosis as the primary clinical symptom. The degree and onset of cyanosis are related to the severity of pulmonary stenosis, and it often appears in areas with abundant capillaries such as lips, fingers, toes, nail beds, and bulbar conjunctiva. Secondly, squatting symptoms are common among children; they often spontaneously squat for a while during walking or playing. Squatting, with the legs bent, reduces the venous return and thus decreases the load on the heart, temporarily relieving symptoms of hypoxia by reducing the right-to-left shunt. Thirdly, clubbing occurs due to long-term hypoxic conditions, which can cause capillary dilation and proliferation in the fingers and toes, and the local soft tissues and bones also grow and enlarge; fourthly, paroxysmal hypoxic attacks, which are most common in infants, can be triggered by breastfeeding, crying, emotional excitement, or anemia. These attacks suddenly occur and can lead to severe symptoms including difficulty breathing, fainting, convulsions, and even death.

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Written by Yan Xin Liang
Pediatrics
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Is Tetralogy of Fallot serious?

Tetralogy of Fallot is the most common cyanotic congenital heart disease in children, accounting for about 10% of congenital heart diseases. It is a complex type of congenital heart condition, consisting of four defects: a ventricular septal defect, right ventricular outflow tract obstruction, overriding aorta, and right ventricular hypertrophy. Due to these four malformations, children will experience cyanosis, poor exercise tolerance, and may quickly become fussy or emotionally disturbed with physical activity. This can lead to noticeable worsening of dyspnea and cyanosis. They may also exhibit a preference for squatting, as squatting can decrease the return blood volume to the heart, increase systemic vascular resistance, and temporarily relieve hypoxic symptoms. Other symptoms include clubbing, paroxysmal hypoxia attacks which are more common in infants. These attacks can be triggered by crying, emotional excitement, anemia, infections, etc., and suddenly manifest as paroxysmal breathing difficulties. In severe cases, there can be fainting, convulsions, and even death. Therefore, these clinical manifestations are very serious, making this disease a significantly dangerous condition.

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Written by Yan Xin Liang
Pediatrics
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The most common complication of Tetralogy of Fallot

Tetralogy of Fallot is the most common cyanotic congenital heart disease, consisting of four abnormalities: ventricular septal defect, obstruction of the right ventricular outflow tract, overriding aorta, and right ventricular hypertrophy. Several complications are prone to occur in Tetralogy of Fallot: Firstly, due to the increase in red blood cells, embolism can occur, especially cerebral embolism is the most common. Children over two years old can also develop brain abscesses. Secondly, bacterial endocarditis often occurs at sites such as the right ventricular infundibulum, pulmonary valve, or aortic valve.