Carrier Screening:
The Carrier Screening Panel is a 302-gene panel aimed at investigating the probability of transmission of a genetic disease from parents to children. Each of us can be a healthy carrier of a hereditary disease without being aware of it. This panel is recommended for couples who are planning a pregnancy and want to know if there is a risk of transmitting a genetic disease to the child. Testing is especially recommended if there are already family members with a hereditary disease, in case of pregnancy loss without other known causes, in case of blood relationship between partners, or in case they belong to a certain ethnic group.
Knowing your carrier status, in anticipation of a future pregnancy, is medical information of primary importance for the prevention of the development of autosomal recessive and X-linked diseases in children whose parents are healthy. If both partners are carriers of the same autosomal recessive disease, there is a 25% chance that they will pass on the pathogenic gene variants to their children in each pregnancy. In the case of diseases transmitted by the X chromosome, the risk of a healthy carrier mother giving birth to an affected male child is 50%, and the risk of giving birth to a healthy daughter, also a carrier, is 50%. This panel is recommended for couples who are planning a pregnancy and want to know if there is a risk of transmitting a genetic disease to the child. Testing is especially recommended if there are already family members with a hereditary disease, in case of pregnancy loss without other known causes, in case of blood relationship between partners, or in case they belong to a certain ethnic group.
Non Invasive Prenatal Testing - (NIPT)
Cell-free DNA fragments (cfDNA) are short fragments of DNA, which can be found circulating in the blood. During pregnancy, cfDNA fragments originating from both the mother and the fetus are present in maternal circulation.
The test requires taking a small maternal blood sample. This is then analysed with our proprietary genetic sequencing technology and bioinformatics to screen for any chromosomal abnormality in the fetus.
The technology behind CHROME allows for highly accurate results with detection rates of over 99.5% for the three most common trisomy conditions present at birth (Down Syndrome, Edwards Syndrome and Patau Syndrome).
WHY CHOOSE NIPT?
WHY CHOOSE NIPT?
- Reliable risk evaluation for trisomy 13, 18, 21, X & Y due to great sequencing depth
- Significantly lower false-positive rate
- Part of a professional and comprehensive prenatal medicine evaluation
- Highest standards of confidentiality & quality
- Reporting at 2% fetal fraction with 99% sensitivity & specificity
Non-invasive & highly accurate, NIPT is designed to screen for chromosome aneuploidies and is validated for chromosomes 13, 18, and 21, X and Y. The test is validated for singleton and twin pregnancies with a gestational age of at least 9 weeks. The test extracts cell-free DNA from 10ml of the mother’s blood. The cell-free DNA thus obtained contains approximately 4% to 10% of fetal DNA, which is sequenced and analyzed using the proprietary algorithm for chromosome aneuploidies. This test allows for highly accurate results with detection rates of over 99.5% for the three most common trisomy conditions present at birth (Down Syndrome, Edwards Syndrome and Patau Syndrome). The test requires taking a small maternal blood sample. This is then analysed with our proprietary genetic sequencing technology and bioinformatics to screen for any chromosomal abnormality in the fetus.
NIPT is unsuitable if the mother: has cancer, received stem cell therapy; has received blood transfusion, organ transplantation, immunotherapy radiotherapy in the last 3 months
Limitations of the test:
NIPT is indicated for use in pregnant women with increased risk for chromosomal aneuploidy & does not replace the accuracy and precision of prenatal diagnosis with Amniocentesis or Chorionic Villus Sampling (CVS)
Pregnant women with a positive diagnosis test result should be referred to genetic counseling & offered invasive prenatal diagnosis for conformation of test results. However, a negative test result does not ensure an unaffected pregnancy. Not all chromosomal abnormalities can be detected due to placental, maternal, fetal mosaicism, or other causes (micro-deletions, chromosome re-arrangements, translocations, inversions, unbalanced translocations, uniparental disomy).