Improving Diagnosis of Some of the Most Common Genetic Disorders in Children by FDNA Telehealth

rare disease diagnosis

FDNA Telehealth Genetic Analysis for Genetic Syndromes

Genetic counseling is an essential support service for anyone who suspects a genetic disorder in a child, either before or after birth. It provides families with both the genetic knowledge, and the emotional support, to help them navigate a rare disease diagnosis in their child.

The 3 most common genetic disorders in children*

*by awareness, prevalence and diagnosis rate.

There are currently around 7,000 identified genetic disorders or rare diseases. Some of these affect only a handful of individuals globally, others can affect thousands. Genetic disorders present with a variety of characteristic facial features, and symptoms, and can be caused by a genetic mutation or chromosomal anomaly.

Some genetic disorders are identified in children before birth. Either due to a family history of the syndrome (parents are diagnosed with the syndrome, or known carriers of the genetic mutation which causes it), or because prenatal genetic screening, and testing has revealed that the child is at higher risk for developing a syndrome, or has developed it.

Other genetic disorders may be identified in children as a result of newborn screening, which is used to test all newborns in the US for a specific range of genetic syndromes. In other instances a child may be diagnosed with a genetic disorder, either in infancy or childhood, due to their specific set of symptoms. Some of the most commonly identified symptoms of a rare disease in children, include unique facial features and developmental delay.

Here we take a look at some of the most commonly known genetic disorders in children, according to awareness and their current known prevalence.

Down syndrome

Perhaps the most well-known of all genetic disorders in children, and the most prevalent. This rare disease occurs in 1 in every 700 live births in the US. It is not an inherited condition, but the result of an extra copy, or extra part of, chromosome 21.

In recent years genetic screening for Down syndrome has become a part of standard prenatal care in the US. This involves two types of testing – one type identifies if an unborn child has a higher risk of developing Down syndrome, the other type is a more invasive form of testing (either amniocentesis or chorionic villus sampling) and can tell with some accuracy, if a child has Down syndrome or not.

When it comes to genetic disorders in children, Down syndrome is by far the most well-known, due both in part to its higher prevalence and the availability of genetic screening tools specifically for it.

Common symptoms of Down syndrome include a flattened face and bridge of nose, almond-shaped eyes, and a short neck. Some Down syndrome children are born with congenital heart defects, and the genetic disorder presents with varying degrees of intellectual disability.

Turner syndrome

Turner syndrome is one of the most common genetic disorders in female children. It occurs in 1 in every 2,000 live female births in the US. As with Down syndrome, it is not an inherited condition, but is the result of a spontaneous chromosomal change, which leads to affected females being born with a missing X chromosome. There is no current known or suspected cause of this random change.

This genetic disorder in children is usually diagnosed during puberty, so later in childhood. This is because its main symptoms are delayed puberty. However known symptoms of this syndrome include a short stature, accumulated liquid in the hands and neck of affected individuals, and congenital heart defects.

Because Turner syndrome presents with a very unique set of symptoms, it is usually more accurately diagnosed than other genetic disorders.

Fragile X syndrome

This genetic disorder occurs in around 1 in every 4-6,000 live births in the US. It is diagnosed more commonly in males than females, and males display more severe symptoms of the syndrome. This is due to the fact that the syndrome is triggered by a mutation in just one copy of the gene on the X chromosome. This often makes it easier to diagnose in males, and means they are often diagnosed earlier too.

Fragile X is caused by mutations in the FMR1 gene. These changes prevent the production by this gene of a protein which aids brain development. This in turn leads to some of the main features of the syndrome – intellectual disability and developmental delay, ranging from mild to moderate. A Fragile X diagnosis also puts children at higher risk for an autism spectrum disorder, ADD, or ADHD diagnosis.

Genetic disorders in children and diagnosis

A rare disease may be diagnosed in a child based on the following:

  • Prenatal genetic screening and testing results
  • Newborn genetic screening results
  • Genetic testing during infancy or childhood
  • Their unique set of symptoms
  • Family medical history, including whether parents are carriers of a specific gene mutation

Genetic counseling and rare disease in children

Genetic counseling is an essential support service for anyone who suspects a genetic disorder in a child, either before or after birth. Genetic counseling provides families with both the genetic knowledge, and the emotional support, to help them navigate a rare disease diagnosis in their child.

However genetic counseling services can be difficult to access, depending on where a family is located, and if they require a specific genetic counseling specialty. In recent years this has led to the development of online genetic counseling platforms, and networks, for those looking to understand more about their child’s genetic health.

FDNA Telehealth is one such platform, and they have recently introduced new genetic counseling and testing packages for families. This enables families to connect with their global network of genetic experts, and their own advanced genetic analysis technology, in order to ensure a more accurate and timely diagnosis.

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