Sage SCA Example Screening Report
Sage SCA Example Screening Report
Sage SCA Example Screening Report
Patient Details:
Patient ID patient_id Clinician Name physician
Patient Surname surname Hospital/Clinic Name hospital_name
forename Pregnancy Status: pregnancy_type
Patient Forename
Singleton/Twin
Date of Blood Draw collection_date Report Generated: created_date
Patient Date of Birth dob TIID specimen_id_2
No.376-5, Fuxing Rd., Shulin Dist., New Taipei City +886 2 26758068
Reporting facility
238, Taiwan (R.O.C.)
I. Screening results
Chromosomes Risk Z score Test Results Reference interval
Chromosome 21 Low Risk -6<Z score<2.8
Chromosome 18 Low Risk -6<Z score<2.8
High Risk – Further
Chromosome 13 -6<Z score<2.8
Investigation Recommended
Chromosome Y - Detected NA
High Risk – Further
Sex Chromosomes Part III Part III
Investigation Recommended
Other Chromosomes Part IV Low Risk Part IV
Fetal fraction
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III. Sex Chromosomes
Sex Chromosome Aneuploidies Risk Z score Test Results Reference interval
XO Low Risk
High Risk – Further Male -3<Z score<3
XXY/XYY
Investigation Recommended Female -2.8<Z score<2.8
XXX Low Risk
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About Sage™ prenatal screen
The Sage™ prenatal screen is a new advanced non-invasive prenatal screening solution using the latest developments in DNA
technology to detect placental DNA in maternal blood. Sage™ offers a menu-based chromosome analysis to estimate the risk
of a fetus having Down’s syndrome and other genetic disorders. Enabling pregnant women and their families fast, safe and
reliable results and reducing the need for invasive tests and the associated risks, stress and anxiety. Sage™ is indicated for use
in pregnant women who are at least 10 weeks pregnant. Chromosomal aneuploidy can then be detected using bioinformatics
analyses, where the detection rate and sensitivity are over 99%.
Limitations
Sage™ is a screening test and all high-risk results should be confirmed through further investigation which may include tests
such as amniocentesis or Chorionic Villus Sampling (CVS). Pregnant women with a high-risk result should be referred for
genetic counseling and offered invasive prenatal diagnosis for confirmation of test results. Pregnant women with a negative
test result do not ensure an unaffected pregnancy. While results of this testing are highly accurate, not all chromosomal
abnormalities may be detected due to placental, maternal or fetal mosaicism, or other causes (micro-deletions, chromosome
re-arrangements, translocations, inversions, unbalanced translocations, uniparental disomy). The test is not reportable for
known multiple gestations, or if the gestational age is less than 10 weeks.
Test method
A simple maternal blood sample is taken from the pregnant mother from 10 weeks gestation without any risk to the fetus.
Circulating cell-free placental DNA was purified from the plasma component of anti-coagulated 10mL of maternal whole blood.
It was then converted into a genomic DNA library for Next Generation Sequencing and then determination of chromosomal
aneuploidy.
References:
1. Obstet Gynecol 2012;119:890-901.
2. BMJ 2011;342:c7401.
3. Prenat Diagn 2012;32:c7401.
4. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
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