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

The prenatal SPECIAL + SMA test, conducted at IntroLab in Belgrade, provides a comprehensive analysis of several key genetic factors. This test aims to identify potential genetic disorders in the fetus, helping parents make informed decisions during pregnancy.

What does the prenatal SPECIAL + SMA test include?

Trisomy testing:

• Trisomy 21 (Down Syndrome): Detects the presence of three copies of chromosome 21, the most common cause of intellectual disability.
• Trisomy 18 (Edwards Syndrome): Detects three copies of chromosome 18, often resulting in severe mental and physical abnormalities.
• Trisomy 13 (Patau Syndrome): Detects three copies of chromosome 13, which can lead to serious neurological and heart issues.

Sex chromosome testing:

• Identification of disorders like Turner syndrome (missing one X chromosome in females), Klinefelter syndrome (an extra X chromosome in males), and other sex chromosome anomalies.

Microdeletion testing:

• Detection of small deletions in genetic material that can cause disorders such as DiGeorge syndrome, Prader-Willi syndrome, and Angelman syndrome.

Monogenic disease testing:

• Screening for over 100 different monogenic diseases caused by mutations in individual genes, including cystic fibrosis, Tay-Sachs disease, and others.

SMA testing (Spinal muscular atrophy):

• A specific test to detect spinal muscular atrophy, which affects the nerve cells controlling voluntary muscles.

Fetal gender determination:

• Analysis of fetal DNA in the mother’s blood to determine the baby’s gender.

How reliable is the SPECIAL + SMA test?

The test is highly reliable, with over 99% accuracy in detecting trisomies (such as T 21, 18, and 13) and sex chromosome abnormalities, due to the use of Next-Generation Sequencing (NGS) technology. NGS enables detailed analysis of genetic material, detecting even small genetic variants, microdeletions, and gene mutations, minimizing the likelihood of false-positive and false-negative results.

How is the sample collected for testing?

The sample is collected through a simple blood draw from the mother’s vein, posing no risk to the fetus.

What if the results are positive?

Further diagnostic testing, such as amniocentesis, is recommended to confirm the results. Genetic counseling is also advised to provide additional information and guidance.

Overview of prenatal tests

IntroLab offers a range of prenatal tests designed to meet patient needs, from basic screenings to comprehensive genetic analyses.

• BASIC Test: Screens for trisomies T 21 (Down syndrome), T 18 (Edwards syndrome), T 13 (Patau syndrome), and determines the fetus’s gender.
• PLUS Test: Includes everything in the BASIC Test, with additional analysis of sex chromosomes.
• EXPERT Test: Covers testing for T 21, 18, 13, sex chromosomes, DiGeorge syndrome, and determination of fetal gender.
• PREMIUM Test: Includes everything in the EXPERT Test, plus additional testing for microdeletions and determination of fetal gender.
• ALL CHROMOSOMES Test: Analyzes all chromosomes, including sex chromosomes, deletions, and microdeletions, along with determination of fetal gender.
• SPECIAL Test: Covers testing for T 21, 18, 13, sex chromosomes, microdeletions, 100 hereditary diseases, and determination of fetal gender.

IntroLab genetic screening panels

Alongside a wide range of prenatal tests, IntroLab provides specialized genetic panels for identifying hereditary diseases and disorders.

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

These analyses allow for a detailed assessment of genetic risks and provide a foundation for personalized therapeutic approaches.