Chromosome Risk Test Results Aneuploidy Risk

Chromosome 13 Low risk group < 1/10000

Chromosome 18 Low risk group < 1/10000

Chromosome 21 Low risk group < 1/10000

Other Chromosomes Low risk group -

※ Risk description:

Name : Ms. XXXXXX Age/sex : 00 Y /F Lab No : 000000000 Rep centre : ………………… Ref by : Dr. …………. Rec. Date : 00/00/0000 Rep Date : 07/00/0000

Maternal Blood Fetal DNA (MBFD)

Prenatal Aneuploidy Test Results of Chromosome 13, 18 and 21

Low risk group; Borderline group; High risk group

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Prenatal Aneuploidy Test Results of Other Chromosomes

Chromosome Risk Test Results

Chromosome 1 Low risk group

Chromosome 2 Low risk group

Chromosome 3 Low risk group

Chromosome 4 Low risk group

Chromosome 5 Low risk group

Chromosome 6 Low risk group

Chromosome 7 Low risk group

Chromosome 8 Low risk group

Chromosome 9 Low risk group

Chromosome 10 Low risk group

Chromosome 11 Low risk group

Chromosome 12 Low risk group

Chromosome 14 Low risk group

Chromosome 15 Low risk group

Chromosome 16 Low risk group

Chromosome 17 Low risk group

Chromosome 19 Low risk group

Chromosome 20 Low risk group

Chromosome 22 Low risk group

※ Risk description: Low risk group; Borderline group; High risk group

Sample information

Qubit Fluorometer (ng/µL) 0.101

Volume (µL) 60

Total amount (µL) 6.06

Fetal DNA fraction 10.86%

Note: In rare cases where Fetal DNA fraction level is low, new blood sample will be requested for retest.

Comments

The MBFD test screens a maternal blood sample for chromosome aneuploidy in fetal DNA using the following methodology: (1) Extraction of cell free fetal DNA from the maternal blood sample (2) High throughput sequencing of the extracted cell free fetal DNA (3) Calculation of molecular mass of fetal DNA in all chromosomes

Based on the scope, the MBFD test can detect the following: (a) Whole Genome - human chromosomes (b) Common Chromosomal abnormality:

Trisomy 13 (Patau’s Syndrome) Trisomy 18 (Edwards’ Syndrome) Trisomy 21 (Down’s Syndrome)

The test is capable of genome-wide aneuploidy detection over the whole fetal genome and offers an interpretation of the results for Trisomy 13 Trisomy 18 and Trisomy 21. This test confers an accuracy of up to 99% on the detection of fetal chromosome aneuploidy.

About the Test This test specializes in the research and development of professional and high-quality services in the field of clinical genetic testing. This Test analyzes circulating cell-free DNA extracted from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for chromosomal aneuploidy.

Chromosomal aneuploidy can then be detected using bioinformatics analyses, where the detection rate and sensitivity are over 99%. The accuracy and quality of the test may be affected by improper blood sample collection, storage and transportation.

Limitations of the Test: Cell-free fetal DNA does not replace the accuracy and precision of prenatal diagnosis with Amniocentesis or Chorionic Villus Sampling (CVS). Pregnant women with a positive test result should be referred for genetic counseling and must be 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 gestational age is less than 10 weeks.

Test Method The test employs a non-invasive and low-risk method for the acquisition of a fetal DNA sample. Circulating cell-free 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 analysed for determination of chromosome 21, 18 and 13 aneuploidies. 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.

Dr. Atul Thatai Dr. Gulshan K. Chhabra Dr. Aditi Sarkar Chief Molecular Scientist Molecular Scientist Research Scientist HOD, Molecular Diagnostics Dept. Molecular Diagnostics Dept. Molecular Diagnostics Dept. National Reference Laboratory National Reference Laboratory National Reference Laboratory