Top 5 Genetic Birth Disorders – An Overview

genetic birth disorders, Congenital Heart Defects, neural tube defects, blood disorders, trugeny

Over 8 million infants worldwide are born with gene-related congenital disabilities, concludes research conducted by March of Dimes, a non-profit organization that works towards improving the health of mothers and babies. The research further highlights that there are around 7,000 genetic or partially genetic birth disorders. The five genetic birth disorders to top this list are as follows:

Congenital Heart Defects

Congenital heart defects affect more than a million births worldwide every year.

Congenital heart defects (CHDs) are triggered when there is an abnormal formation of the heart during the fetal development stage. CHDs are of 3 types – problems that either causes too much blood to pass through the lungs, too little blood to pass through the lungs or too little blood to travel to the body. In some cases, there could be a combination of many heart defects. CHDs are the leading cause of birth disorder-related deaths. They require extensive treatment in the form of various medications that help the heart work more efficiently. Based on the severity of the heart defects, paediatric cardiologists can also suggest for procedures using catheterization, open-heart surgery, or heart transplant. Since CHD is very dangerous and can cause sudden cardiac death, lifelong monitoring, and treatment is necessary.

Neural Tube Defects

Neural tube defects affect more than 324,000 births worldwide every year.

Neural tube defects (NTDs) are of two types: open and closed. The open NTDs occur when a defect in the skull or vertebrae (backbones) keeps the brain and/or spinal cord exposed at birth. Anencephaly, hydranencephaly, encephaloceles, schizencephaly, iniencephaly and spina bifida are some of the open NTDs. The rarer types of NTDs, closed NTDs, occur when the spinal defect is covered by skin. Tethered cord, lipomyelomeningocele, and lipomeningocele are some of the closed NTDs.

Most NTDs can be prevented by ensuring the expecting mother gets enough folic acid, a type of B vitamin. A paediatrician usually identifies neural tube defects before the birth of a baby through lab or imaging tests. Sadly, there is no cure for NTDs, and the nerve damage and loss of function are usually permanent. But, various treatments can help prevent further damage and complications caused by NTDs.

Blood Disorders

Blood disorders affect more than 307,000 births worldwide every year.

Red blood cells in the body do not last forever and are needed to be produced after some time. When the body is unable to produce red blood cells, blood disorders are caused. Blood disorders can be transmitted from parents to children by genes on chromosomes. Some of the common blood disorders are sickle cell disease and thalassemia. They can be treated with the help of medications, folic acid supplements, bone marrow transplants, and therapies.

Down Syndrome

Down syndrome affects more than 217,000 births worldwide every year.

Down syndrome is caused when a child has a partial or full extra copy of chromosome 21. There are three types of Down syndrome – Trisomy 21 (Nondisjunction), Mosaicism or mosaic Down syndrome, and translocation.

Depending on the severity, Down syndrome can cause lifelong intellectual disability and developmental delays. It can cause learning disabilities in children, and trigger other medical abnormalities, such as heart and gastrointestinal disorders.

Currently, there’s no means to prevent Down syndrome. Receiving routine medical care can help improve the lifespan and quality of life for people with Down syndrome.

G6PD Deficiency

G6PD deficiency affects more than 177,000 births worldwide every year.

G6PD deficiency is the enzyme deficiency that causes anemia. It causes the destruction of red blood cells in response to a set of medications, infections, or other stresses. G6PD deficiency can only be diagnosed via a blood test when a child shows signs of it. It is usually treated in the hospital by providing oxygen and fluids. In some cases, a transfusion of healthy blood cells may be suggested. Though treatment can help, G6PD deficiency cannot be cured. It requires monitoring at regular intervals through lab or imaging tests.

How to Limit the Frequency of Birth Disorders?

Certain birth disorders cannot be prevented. However, the use of prenatal genetic screens and preimplantation genetic diagnosis (PGD) can prove beneficial in limiting the frequency and severity of birth disorders. Expecting parents should also undergo genetic tests to identify themselves at risk for probable diseases and the possibility of passing a bad gene to their future children. This test will help parents and doctors to pick the right development programs for their child.