Prenatal SPECIAL Test: T 21, 18, 13 + Sex Chromosomes + Microdeletions + 100 Hereditary Diseases + Gender

At IntroLab in Belgrade, the SPECIAL test is a comprehensive prenatal genetic testing option designed to provide parents with a detailed understanding of their future baby’s genetic health. This test combines multiple analyses to identify a broad spectrum of genetic disorders, enabling early detection of potential health risks.

What does the SPECIAL test include?

The SPECIAL test focuses on key genetic factors that can affect fetal development:

• Trisomies 21, 18, and 13: These trisomies are linked to serious genetic disorders, and their detection allows parents to better prepare for potential challenges.
• Sex chromosome analysis: Identifying abnormalities in the sex chromosomes helps in the early detection of conditions that may affect the child’s health in gender-specific ways.
• Microdeletions: Detecting microdeletions provides additional insights into genetic risks, helping parents plan for appropriate care and support.
• 100 hereditary diseases: By screening for a wide range of hereditary diseases, the SPECIAL test enables early identification of genetic predispositions that could affect the child’s health.
• Determination of fetal gender: Knowing the baby’s gender is additional information that can be important for parents in the context of genetic counseling and planning.

How is the SPECIAL test performed?

The SPECIAL test is non-invasive and easy to perform, following these steps:

• Blood sample collection: A small blood sample is taken from the pregnant woman, typically between the 10th and 24th week of pregnancy. This sample contains fetal DNA.
• Laboratory analysis: The sample is analyzed using next-generation sequencing (NGS) technology, which enables a detailed examination of the fetus’s genetic material.
• Processing and delivery of results: The results are processed and usually available within a few days to two weeks.

Interpreting the test results

A negative result indicates that there is no presence of the tested trisomies, sex chromosome abnormalities, microdeletions, or hereditary diseases. This suggests a low probability of genetic disorders, although it does not eliminate all potential genetic risks.

A positive result indicates the presence of genetic abnormalities. It is recommended to seek genetic counseling and undergo additional diagnostic testing for confirmation and further details.

The test results also determine the fetus’s gender through the analysis of sex chromosomes.

Prenatal tests offered at IntroLab

In addition to the SPECIAL test, IntroLab offers a variety of prenatal tests tailored to the diverse needs of expecting parents:

• BASIC Test: Screens for the most common trisomies, including Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome), as well as determining the fetus’s gender. It is designed for the basic detection of key genetic disorders.
• PLUS Test: Expands on the BASIC Test by adding sex chromosome analysis, allowing for the identification of sex-specific genetic abnormalities.
• EXPERT Test: Includes everything in the PLUS Test, with the addition of analysis for DiGeorge syndrome, providing a more detailed overview of potential genetic issues.
• PREMIUM Test: Includes screening for T 21, 18, 13, sex chromosomes, additional microdeletions, and determining the fetus’s gender for a thorough genetic analysis.
• ALL CHROMOSOMES Test: A comprehensive analysis that covers all chromosomes, including sex chromosomes, and detects deletions and microdeletions.
• SPECIAL + SMA Test: Includes testing for T 21, 18, 13, sex chromosomes, microdeletions, 100 hereditary diseases, spinal muscular atrophy (SMA), and determining the fetus’s gender for a comprehensive assessment of genetic health.

Depending on their specific needs and concerns, parents can choose the test that best suits them, ensuring peace of mind and informed decision-making during pregnancy.

Specialized panels for hereditary disorders

Along with prenatal tests, IntroLab offers specialized genetic panels, allowing for detailed analysis of various hereditary disorders.

• Autoinflammatory diseases panel
• Cardiomyopathy panel
• Arrhythmia panel
• Marfan syndrome panel
• Epilepsy panel
• Clinical exome sequencing
• Molecular karyotyping

These panels offer comprehensive insights that can be essential for making timely and informed decisions regarding further medical care.