What does genetic testing consist of? Types of genetic tests for children

What is genetic testing?

Genetic testing is a modern test that focuses on analyzing a person’s DNA. More and more scientific discoveries confirm that the predisposition to contract certain diseases is genetically determined or arises from mutations. Genetic testing is therefore a valuable diagnostic tool. In depending on the type of test, it can be done in pregnancy or after the birth of the baby.

What does genetic testing consist of?

Genetic testing involves analyzing a child’s genetic material. It can be obtained from maternal blood (prenatal testing), from umbilical cord blood or from the infant’s saliva (tests conducted after the baby is born). Specialists at genetics laboratory then analyze individual genes. The goal of diagnostics is to detect characteristic mutations that are responsible for the predisposition and development of a particular disease. There is usually a wait of several weeks for genetic test results.

Comparison of available genetic tests

Genetic tests that can be done at to get information about the baby’s health are:

• 
  PlumCare DNA Advisor testing – after birth 
  
  PlumCare Advisor DNA genetic testing involves taking a sample of the baby’s umbilical cord blood or saliva after birth. The material is analyzed at genetics laboratory using the Whole Exome Sequencing (WES) method, that is, the entire exome is examined. This allows for a very accurate genetic assessment and determination of the risk of nearly 300 diseases (predisposition to oncological diseases, metabolic conditions, epilepsy, cardiovascular conditions, connective tissue diseases). The PlumCare DNA Counselor genetic test does not require a blood draw from the mother or baby. 

• PANORAMA test – before childbirth
  The PANORAMA test involves drawing blood from a pregnant woman, and then isolating the baby’s genetic material from her. It is analyzed for chromosomal abnormalities (trisomies – Down syndrome, Edwards syndrome, Patau syndrome and triploidies), microdeletions (including cat scream syndrome, Angelman syndrome) and sex chromosome abnormalities (including Turner syndrome, Klinefelter syndrome). 
• NIFTY test – before delivery
  The NIFTY test involves isolating fetal genetic material from the mother’s blood, and then analyzing it for abnormal chromosome structure. The test can detect the risk of Down, Patau and Edwards syndromes.

As you can see, only 
PlumCare genetic testing
DNA counselor is performed from umbilical cord blood or saliva of the baby already after birth (i.e., it is completely non-invasive) and allows early detection of predisposition to about 300 severe genetic diseases (the whole genome is analyzed, not individual chromosomes). It is also the only test performed after birth. These are the main differences between the available genetic tests.

Genetic defects can also be detected by prenatal testing, which is a 
PAPP-A test
. The main difference is that the material to be analyzed is not DNA – the risk of abnormality is determined by the concentration of PAPP-A protein and the free beta-hCG subunit in the pregnant woman’s blood. They are performed between 11 and 14 weeks of pregnancy. Parents-to-be obtain information on whether their child may have trisomies, i.e. Down, Patau or Edwards syndromes, at . It is not possible to determine the predisposition to contract other diseases.

See also: Pregnancy calendar: 12. One week of pregnancy. How is the child developing?

Why is it important to do genetic testing?

Many Parents wonder whether it is worthwhile to perform genetic testing on their child. The tests are not reimbursed – they are carried out only at private facilities, so the decision involves additional expenses. Nevertheless, they provide a lot of valuable information about the toddler’s health and/or predisposition to future dangerous and difficult to treat disorders.

Genetic prenatal testing make it possible to detect the risk of birth defects and genetic defects even before the child is born. This makes it possible to plan early (or start while still pregnant ) treatment and prepare Parents for the possibility of raising a child requiring special care (various therapies and rehabilitation). In some cases, prenatal diagnosis allows termination of pregnancy. These are situations where the detected disease threatens the life of the mother or the fetus.

Postpartum genetic testing has a slightly different task – it provides knowledge that is broader and complementary to prenatal testing. A pregnancy that went well and the good health of a toddler immediately after birth do not mean that no serious diseases will develop or are not prone to develop in the future. Tests such as the PlumCare DNA Advisor detect such risks before the disease actually occurs. It has two advantages:

• The possibility of implementing prevention,
• and/or the possibility of starting treatment at an early stage, with a good chance of treatment success.

If the Parents are additionally tested, the risk of passing genetic mutations to the child will be determined. About being a carrier of many of them a woman and a man may not even realize.