PANORAMA - Extended panel
General information:
Prenatal genetic test that detects the presence of chromosomal abnormalities in the embryo's DNA (so-called fetal DNA) and estimates with an accuracy of >99% the individual risk of these defects appearing in the fetus. The test has a number of advantages - safety for the fetus , accuracy of invasive diagnostic procedures (amniocentesis, chorion biopsy), lack of subjectivity, a minimal amount of fetal DNA is analyzed in maternal blood, painless for the mother.
- PANORAMA is applicable in single and twin pregnancies and with donor eggs
- PANORAMA finds maternal mosaicism, 'disappearing twin' and molar pregnancy
- PANORAMA can help clinicians to act appropriately in case of risk in twin pregnancies. Even chorionicity can be reliably established in the early stage of pregnancy.
- PANORAMA enables specialists to correlate their ultrasound findings with early and accurate determination of zygosity.
- PANORAMA presents the result completely correctly as "low risk" and "high risk"
- PANORAMA reports the gender of the fetus with 99.9% certainty
Detection of monozygotic twin pregnancy facilitates earlier targeted ultrasound evaluations for chorionicity and associated complications. When a twin pregnancy is known to be dizygotic, there is less concern about TTTS.
In case of twin pregnancy, PANORAMA provides:
- fetal gender for each twin
- zygosity information
- individual fetal fractions for dizygotic twins
- probability of monosomy X for monozygotic twins
- screening for trisomies 21, 18, 13
PANORAMA has 100% specificity and over 99% sensitivity for most genetic defects, as it processes fetal and maternal DNA data with the most advanced software product NATUS (the most advanced technology for analysis and bioinformatics processing of the obtained data) of the American company Natera. The analysis is through the target variant analysis by PCR-SNPs detection (single-nucleotide polymorphism-based sequencing) technology, which repeatedly examines the specific studied regions.
The extended package includes:
- trisomy 21 (Down syndrome);
- trisomy 18 (Edwards syndrome);
- trisomy 13 (Patau syndrome);
- trisomy 47XXX ("super-female");
- trisomy 47XXY (Klinefelter syndrome)
- trisomy 47XYY (Jacobs syndrome);
- monosomy on the X chromosome – 45X (Turner's syndrome);
- triploidy – 3n/69;
- microdeletion 22q11.2 (DiGiorgi syndrome);
- gender of the fetus (if desired)
PANORAMA non-invasive prenatal test is not a diagnostic test. It assesses the risk of the indicated chromosomal abnormalities in the current pregnancy. The decision to continue or terminate the current pregnancy should not be made solely on the basis of a screening result and a subsequent prenatal test. The results do not eliminate the possibility of the presence of other abnormalities in the analyzed chromosomes, other than those indicated in PANORAMA. The test does not detect abnormalities in other, untested chromosomes, other microdeletions, genetic defects, structural birth defects or other fetal conditions/complications.
Sample required:
Venous blood (16-20 ml) taken as a simple venipuncture, in a special vacutainer (Sterck cell-free DNA BCT), provided by the laboratory.
Collection takes place at the Central Laboratory at Gen. Stolypin 18, after calling 052/ 647337.
The examination is voluntary and suitable for every pregnant woman. It is recommended for patients over 35 years of age, in case of doubts from the ultrasound examination by a specialist or biochemical screening, in the presence of spontaneous abortions, stillbirths, in a person in the family with a genetic abnormality.
- The patient must be at least 9 gestational weeks.
- The term must be defined with maximum precision
- After medical consultation by supervising AG
- It is required to fill in the "Informed Consent Form" and "Direction for conducting PANORAMA, Declaration for the processing of personal data
- The examination takes 10-14 working days
*For more information: www.panoramatest.bg