Currently, more than 1200 genetic disorders are known to exist. With proper testing, doctors can identify most of these conditions in children. A genetic specialist can use several methods to diagnose chromosome disorders. These include biochemical testing, karyotyping, preimplantation genetic diagnosis, and neonatal genetic screening.
How Can Genetics Help to Predict Diseases?
Our genetic makeup is capable of influencing our susceptibility to various external forces. This causes some people to be more likely to succumb to asthma, diabetes, and heart disease. As such, it’s crucial to visit a genetic specialist with your child anytime you suspect a genetic condition. In some instances, genetic predispositions can also modulate the severity of the disease condition and how it responds to treatment.
What Are the Physical Symptoms of Genetic Disorders?
Some symptoms might help you identify or suspect childhood genetic diseases. However, you must note that you might also see some of these in children without chromosome disorders. Therefore, it’s imperative to check with a genetic specialist if your child is displaying some of the following features:
- Eyes with an unusual shape
- Abnormal ear function
- Eyes with different colors
- Notable facial features that are not on the other family members
- Brittle or sparse hair
- Too much body hair
- Patches with white hairs
- An abnormally sized tongue
- Misshapen teeth
- Too many teeth
- Abnormally tall or short stature
- Webbed fingers and toes
- Skin that’s too thick
- Suspicious birthmarks
- Abnormal sweating patterns
- Excessive body odor
Red Flags for Genetic Disease
Many factors can make doctors list a genetic condition on a differential diagnosis list. The most common reason for suspecting a genetic disorder would be its occurrence among family members.
As part of genetic testing in children, a doctor can discover incidences of genetic disease within a family’s history. If that condition has occurred in more than one family member and there have been several miscarriages, stillbirths, and childhood deaths, they will strongly suspect a genetic condition.
A genetic specialist might also suspect genetic conditions if there is a family history of more than two adults with heart disease, cancer, or dementia. Apart from that, other conditions are suggestive of genetic conditions. These include developmental delays, congenital abnormalities, and abnormalities of the heart.
However, spontaneous mutations and exposure to teratogens can cause similar symptoms. While most of the conditions can result from other factors, a genetic condition must be on the lineup of differential diagnosis once the symptoms are seens.
A lot of genetic conditions typically manifest during childhood. However, it is not uncommon to find some adolescents or adults. Some conditions can remain undetected for many years until something triggers their onset. The changes that happen during puberty can cause a genetic condition to manifest. In such instances, the genetic specialist will require a detailed family history and thorough physical examination to investigate and pinpoint the condition.
Genetic Consultation as Part of Diagnosing Childhood Genetic Diseases
A genetic consultation provides information and support to individuals who might be at risk for genetic conditions. During genetic testing in children, a genetic specialist will meet with a family or the patient to discuss genetic disease risks and examine, confirm, or rule out genetic conditions.
Genetic specialists include medical geneticists and genetic counselors. A genetic center or a hospital will typically carry out these consultations. Sometimes, your doctor could carry out the consultations over the phone. During the consultation, you can ask questions like, ‘how can genetics help to predict diseases?’ The consultant will provide answers to all your questions to the best of their ability.
Testing and Diagnosis for Chromosome Disorders in Children
Genetic testing in children is an important step in identifying genetic conditions. It also answers the question, ‘how can genetics help to predict diseases?’ Testing can be carried out in pregnant women, newborns, and children of all ages. In some instances, a doctor can identify a genetic condition during a physical examination. However, in most cases, specific tests must be carried out to diagnose childhood genetic diseases.
Genetic tests include examining chromosomes or running blood tests to check for certain enzymes that can indicate a genetic disorder. The process of analyzing enzymes is known as biochemical, genetic testing.
The first step of testing for chromosome disorders in children is to review the family’s medical history. If the test is for a pregnant mother, the genetic specialist might also review the pregnancy history and perform tests. Some of the tests conducted include X-rays, MRIs, and genetic tests (usually blood tests.) The doctor may also refer the child to an alternate specialty section within the hospital.
Categories of Genetic Tests
Predictive Genetic Testing
These are tests that analyze an individual’s risk of developing a genetic condition. They might or not have a family history of genetic conditions. Some of the diseases that doctors screen for include certain kinds of cancer and heart disease.
Presymptomatic Genetic Testing
Presymptomatic Genetic Testing studies the chances that a patient will get a genetic condition. Doctors do this by means of looking into the family history. However, this type of test occurs when the patient does not have any currently symptoms.
Carrier Testing
Carrier testing is useful for telling whether an individual carries a copy of a gene associated with a particular genetic disorder. There are some diseases known as “autosomal recessive.” An individual must inherit two copies of the defective gene for the disease to occur.
Doctors administer carrier testing to ensure that a couple doesn’t carry the same autosomal recessive gene. If they both do, there are one in four chances that their child will get the genetic condition.
Prenatal Diagnosis
Genetic specialists can also test for the presence of genetic conditions in a developing fetus. For this, they use blood tests, ultrasound, amniocentesis, and chorionic villus sampling.
Newborn Screening
Some genetic predispositions can be diagnosed and treated early in life. Parents may request that their children be tested as soon as they are born to ensure they don’t have these conditions.
Types of Tests for Childhood Genetic Diseases
Doctors use several methods to screen for genetic conditions in children. These tests can also identify genetic predispositions. The type of test that the doctors use depends on the type of genetic condition they are checking for. There are mainly three types of tests used. These include cytogenetic and biochemical tests for chromosome disorders.
Cytogenetic Testing
With these tests, the genetic specialists will analyze whole chromosomes and check them for abnormalities. For this, they use white blood cells because they are easy to access. In some instances, they can also use amniotic fluid.
Biochemical Testing
There are a lot of biochemical reactions that take place in the cells each minute. A group of proteins known as enzymes facilitate these reactions. Other proteins that are essential for biochemical reactions include transporters and structural proteins. A genetic condition can cause one or more of these proteins not to function as they should. A biochemist will run tests to investigate the levels of these proteins in the blood and analyze their structure.
Genetic conditions are quite common in children, and they will continue into adulthood.
Do you suspect that your child has a genetic condition? Even if they are not showing signs, you might still want to get them screened for a genetic condition, especially if there are incidences in your family.
Don’t hesitate to get in touch with us for advice and genetic testing. After all, we are experts, and we have helped numerous patients for many years. Also, feel free to share this article on social media to increase awareness of genetic conditions.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2791077/
https://www.cdc.gov/genomics/gtesting/genetic_testing.htm
https://medlineplus.gov/genetics/understanding/testing/uses/
https://medlineplus.gov/genetics/understanding/testing/benefits/