What is Congenital Disease?

• Jan 01
• Obstetrics

Overview

Babies, when conceived, are usually born healthy but at times, there are chances of the baby being born with some sort of congenital abnormality/s. These birth defects are termed as congenital diseases – a condition that is present from birth – and more often than not, affect the way the baby looks, develops, or functions later on in life.  Although in most cases these defects are quite evident & visible at the time of birth, in some instances, there is a likelihood of the disease manifesting later on –during childhood, adolescence or even after becoming an adult.

For example, a cleft lip is a condition which is quite obvious at the time of birth but haemophilia, on the other hand, only becomes evident when the child grows.

It also needs to be stated that there are certain congenital diseases which may be life-threatening or lead to lifelong physical and intellectual disabilities. That being said, congenital diseases are known to affect nearly 6 percent of new-borns worldwide while also accounting for 7 percent of all deaths among children under the age of 5 across the globe. Some of the common congenital disorders include:

• Cleft lip/palate
• Turner syndrome
• Edwards syndrome
• Albinism
• First arch syndrome
• Benjamin syndrome
• Heart disorders (Congenital heart defects)
• Neural tube defects
• Gastroschisis
• Cerebral palsy
• Haemophilia
• Goldenhar syndrome
• Fragile X syndrome
• Spina bifida
• Duchenne muscular dystrophy
• Cystic fibrosis
• Chromosome 22 Abnormalities
• Fetofetal Transfusion
• Thalassemia
• Hemifacial Microsomia
• Holoprosencephaly

What’s the reason for their occurrence?

In most cases, congenital diseases are as a result of genetic factors which affect the fetus way before the baby is conceived. While studies have revealed the cause of at least 50 percent of congenital diseases remains unknown, here are some of the other factors which can cause this disease:

• Chromosomal defects
• Single gene defects
• Multifactorial CDs – caused by a combination of genetic and environmental factors
• Dominant inheritance & recessive inheritance factors
• Certain teratogens that can disturb the development of an embryo or fetus such as alcohol, smoking, drugs, maternal infections, and illnesses.

Another point worth mentioning is that in the case of women, regardless of their age, there’s always an inherent risk of the development of a chromosome condition.

Diagnosis

For individuals having a history of congenital diseases, it’s usually recommended to undergo a series of screening tests before the birth of the child. If the screening test is inconclusive, diagnostic tests such as blood tests, ultrasound scans, and urine tests are recommended to identify if the child is afflicted with the disease.

Prevention

As stated before, more often than not, congenital diseases are caused by problems during the fetus’s development before birth. Which is why it’s imperative that parents try to stay as fit and healthy as possible along with good medical care before and during pregnancy in order to reduce the chances of the baby procuring any preventable congenital anomalies. Parents should also consider fixing an appointment with a genetic counselor to discuss their family’s medical history in detail.

Thanks to the advancements in medical science coupled with the advent of perinatal testing and new diagnostic tests such as amniocentesis, chorionic villus sampling, etc., the chances of identifying any chromosomal and genetic related causes of congenital diseases before-hand have increased exponentially.

Listed below are certain preventive measures that should be undertaken by the parents before and during the pregnancy –

• One should look at consuming a healthy diet with adequate vitamins and minerals before and during pregnancy so as to provide the baby with essential nutrients that can help aid proper growth and development. One should also avoid consumption of raw or uncooked foods during pregnancy.
• One should strictly abstain from drinking alcohol, smoking and other drugs as these cause irrevocable damage to the fetus. It also needs to be reiterated that even exposure to second-hand smoke can cause harm to the fetus.
• It’s crucial that a person maintains the right amount of weight. One should avoid being underweight or overweight.
• It’s vital that one keeps of any current or pre-existing medical problems, such as diabetes, gestational diabetes, or high blood pressure under check.
• It’s recommended that the mother consumes 400 micrograms folic acid tablets on a daily basis before getting pregnant and keep continuing it during the first trimester of pregnancy. Folic acid is known to lower the risk of birth defects.
• One should look to avoid exposure to toxic substances, environmental chemicals, such as pesticides or lead and even exposure to sources of radiation such as X-rays.