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All about detecting of fetal heart defects in mother’s womb
7/28/2020 11:39:04 PM
Dr. Buragdda Srinadh, MD

Congenital heart disease means a heart condition or defect that develops in the womb, before a baby is born. In most cases, something has gone wrong in the early development of the foetus.
What is the function of heart
The heart is a muscular organ which pumps blood through the blood vessels of the circulator system the pumped blood carries oxygen and nutrients to the body, while carrying metabolic waste such as carbon dioxide to the lungs . in humans, the heart is approximately the size of a closed fist and is located between the lungs, in the middle compartment of the chest. in humans, the heart is divided into four chambers: upper left and right atria and lower left and right ventricles. Commonly the right atrium and ventricle are referred together as the right heart and their left counterparts as the left heart
A congenital heart defect is a problem with the structure of the heart, It is present at birth. Congenital heart defects are the most common type of birth defects. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely.
Affects of congenital heart defects
Unborn born babies in mother’s womb with heart defects may not grow properly or may die all of sudden in womb at various stages of pregnancy or immediately after birth .
In babies and toddlers, congenital heart disease can have a range of symptoms because every child and condition is different. More common symptoms include extreme tiredness, poor feeding, excessive sweating, rapid heartbeat, breathing problems, chest pain and a blue tinge to the skin. Any of these symptoms in child, requires medical attention to ruleout congenital heart defect.
As medical care and treatments are advancing now, babies with a CHD are living longer and healthier lives, if detected in time and proper treatment is instituted.
Lakhs of children with CHD are born every year
Congenital heart disease (CHD) is a leading cause of infant illness and deaths , with an estimated that approximately 4to13 children are born with these defects per 1000 live births. 12 lakh babies born worldwide every year with heart defetcs .
Considering a birth prevalence of congenital heart disease as 9/1000, the estimated number of children born with congenital heart disease in India is more than 240,000 per year. Of these, about one-fifth are likely to have serious defect. Some congenital heart defects in children are simple and don’t need treatment. Other congenital heart defects in children are more complex and may require several surgeries performed over a period of several years.
What causes these congenital heart defects?
The causes of CHDs among most babies are unknown. Irrespective pf the fact whether mother is having risk factor or no risk factor it can occur in any baby .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 deficit in folic acid and vitamin B12 , obesity, have been linked to heart defects in the baby. Smoking during pregnancy have also been linked to heart defects. If there’s a family history of congenital heart disease, the mother has Connective tissue Diseases like SLE and metabolic disease like diabetes during pregnancy, or the mother has taken certain medications while pregnant (anticoagulants or antiepileptics) a baby may be at higher risk of congenital heart disease. Advanced age and viral infections to potential mother are also common risk factors.
Several genetic health conditions that a baby inherits from one or both parents can cause congenital heart disease. It’s also recognised that certain types of congenital heart disease run in families. Down’s syndrome is the most widely-known genetic condition that can cause congenital heart disease.
How is congenital heart defect detected.
Decades back listening to fetal heart was an unbelievable science wonder, but fortunately with advent of most advanced digital ultrasound screening technology in fetal care, trying to detect even the smallest congenital heart defect and endeavouring to save them in mother’s womb is today’s realism.
Some congenital heart problems are now picked up when the mother has an ultrasound scan during pregnancy (usually at the 20-week scan) Prenatal diagnosis allows full investigation of affected fetuses for coexisting other structural abnormalities and investigating for any underlying genetic cause by performing Amniocentesis to know the Genetic status of fetus.
Investigating the underlying cause for the Congenital heart defect is utmost important step for predicting the chances of success of treatment after birth.
Some cases may have a underlying serious genetic defect, in such cases surgical and medical treatment results may not be good.
Detailed investigations gives time for planning the treatment before and after birth and to informed parents about the health of the fetus after birth and treatments that might be required.
Even if a heart condition is detected, baby may remain safe because of recent advances in medical and surgical technologies , the majority of heart problems identified in utero can be treated effectively after birth (or later in the child’s life). If appropriate, specialist monitoring and care is provided before, during and after the birth, baby can receive tests and treatment as soon as possible.
But in many cases due to lack of rigorous prenatal and postnatal screening programs in our country, they are not found until after the baby has been born. Some conditions may not be discovered until the child is older or even an adult.
Fetal echocardiography with state of the art cutting edge technologies in imaging brought ground-breaking changes in detecting congenital heart defects when baby is in mother’s womb. Every pregnant women requires a basic fetal echocardiography for her baby in womb.
Fetal echocardiography is ultrasound scanning to look at the heart and major blood vessels of the fetus. Most commonly, pregnant women undergo a fetal echocardiography to look for congenital heart defects, which are abnormalities of the heart that occur during development. Some pregnant women are referred for a fetal echocardiography because of a heart rate abnormality detected during routine monitoring of the pregnancy. A fetal echocardiography (echo) is a special type of ultrasound examination that enables a very detailed assessment of the structure and function of a baby’s heart before birth. With use of refined ultrasound techniques such as colour Doppler echocardiography, the examiner is able to visualise in detail the heart chambers, valves and vessels and the direction and speed of the blood flow. Thus, an exact assessment of the heart function, including heart rate size and rhythm, is possible and malformations or other abnormalities can be detected at an early stage.
A fetal echocardiography may be performed routinely beginning at 18-22 weeks gestation, but an earlier study may occasionally be indicated. It is an extension of the ultrasound screening examination that many women undergo during their fourth or fifth month of pregnancy.
One of the benefits of fetal echocardiography is prenatal diagnosis of congenital heart disease (CHD). This allows the baby to have faster access to medical and surgical intervention after birth. In some cases, prenatal diagnosis has been shown to improve overall outcomes in babies with complex heart disease.
A fetal echocardiography is able to diagnose only serious structural abnormalities of the heart. Minor heart defects, abnormalities involving very small structures, and abnormalities in the change from a fetal circulation to a newborn circulation can only be detected after birth.
Pregnant women who have a high risk of having a child with a congenital heart defect (eg, if they have already given birth to a child with this disease or if chromosomal or extracardiac abnormal changes have already been confirmed), can have an early foetal echo, around the 15th week of gestation.
Although details of the heart structure can already be seen at that stage, the results from this early examination are sometimes unclear and the chances that something is missed or misinterpreted are fairly high. Therefore the early foetal echo can be complemented with a second scan that, should take place between week 18 and 22.
However, some abnormalities are not detectable before birth, even with a detailed expert examination. These conditions are mainly minor defects such as small holes between the chambers or mild valve abnormalities. Additionally, some congenital heart malformations do not become evident until a few days after birth because of changes in the heart and lung physiology: the transformation from foetal to normal circulation.
Maternal Steps for Preventing Heart Defects
Taking a multivitamin with folic acid every day. Folic acid, a type of B vitamin,. . Every woman who is pregnant or may become pregnant should take at least 400 micrograms of folic acid every day.
• Avoiding alcohol or smoke tobacco during pregnancy.
Some medications can increase the risk of having a baby with a heart defect.
Controlling diabetes before and during pregnancy
Maintaining a healthy weight, both before and during pregnancy. Being very overweight (obese) may increase the chance of having a baby with a congenital heart defect. Obesity can also lead to the development of diabetes, which can have health risks for you and a baby.
Getting vaccinated. Some infections during pregnancy, such as rubella, can increase the risk of congenital heart defects and other birth defects
Avoid pollution and radiation
Certain genetic factors can increase the chance of having a baby with a heart defect. If someone in your family was born with a heart defect, or if you have questions about genetic testing for heart defects, ask your doctor for a referral to a genetic counsellor.
Its essential to discuss with genetic counsellor before for planning for pregnancy.
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