Final Report

Referred by: First G en om ix

Dr. Wafaa Al-Jabari Al Razi Building 64, Block E, 1st Floor
Farah Hospital (Jordan) Dubai Healthcare City
Dubai, United Arab Emirates
Tel: +971 (0 ) 4 344 0 238
Mail: info@ firstgenomix.ae

Patient Information
Patient Name: Shatha Naji External ID: Not Provided
Date of Birth: 28-Dec-1981 Specimen Type: Peripheral Blood in cfDNA tube
Gender: Female Specimen Collection: 01-Aug-2023
Lab ID: DXB078972 Specimen Received: 02-Aug-2023
Test ID: 75105 Report Date: 09-Aug-2023
Gestational Age: 10 weeks, 1 fetus IVF Status: Non-IVF pregnancy

Test Requested: Non-Invasive Prenatal Test

Clinical Indication: Advanced maternal age

Result Summary

Result Fetal Sex

Negative – No aneuploidy identified Male

The analysis did not indicate a trisomy of chromosome 13, 18, or 21 or sex chromosome aneuploidies.

Recommendation: The test cannot entirely exclude a trisomy of chromosome 13, 18, or 21 or sex chromosome aneuploidies due to the
possibility of fetoplacental mosaicism. In case of an abnormal ultrasound investigation or positive family history, invasive testing with subsequent
karyotyping or additional genetic analysis should be considered. Counseling is recommended to review the results with the patient.

Result Details
Conditions Tested Aneuploidy (Yes/No)

Trisomy 21 (T21) No

Trisomy 18 (T18) No

Trisomy 13 (T13) No

Sex Chromosome Aneuploidy Panel No

Fetal fraction 9%

Fetal gender male

Limitations: The laboratory’s NIPT is only designed to analyze full chromosome aneuploidies of the fetus after 10 weeks of gestation. Reported
are overrepresentations of chromosomes 21, 18 and 13, as well as the sex chromosome aneuploidies X0, XXX, XXY and XYY (Sex Chromosome
Aneuploidy Panel). Chromosome aneuploidies in general for a twin gestation can be detected by this test but cannot be attributed to individual
twin fetuses and sensitivity and specificity for detection of aneuploidies in twin gestations are limited. In case of twin gestations, the detection of
chromosome Y indicates that at least one of the fetus is male; however, the fetal gender of each individual twin cannot be determined by the
test.

Results might not reflect the chromosomes of the baby, but instead reflect chromosomal changes to the placenta (confined placental
mosaicism), or in the mother (chromosomal mosaicism). Test results can be confounded by maternal and /or fetal factors like recent maternal

First Genomix • Al Razi Building 64, Block E, 1st Floor • Dubai Healthcare City • Dubai, United Arab Emirates Page 1 of 2
CAP Registration 9051609 Tel: +971 (0) 4 344 0238 - Mail: info@firstgenomix.ae - Website: www.firstgenomix.ae
Patien t N am e: Shatha Naji Test ID : 7510 5
Extern al ID : Not Provided Patien t ID : DXB0 78972

blood transfusion, maternal malignancy, and stem cell therapy. Especially in case of organ transplantation from a male donor for the mother, sex
chromosome status for the fetus cannot be determined by this test.

Negative results (reported as "No Aneuploidy Detected") do not eliminate the possibility of chromosomal abnormalities of the tested
chromosomes. A negative result does not eliminate the possibility that the pregnancy has other chromosomal abnormalities (for example
microdeletions), genetic conditions or birth defects, for example open neural tube defects or others. Non-invasive prenatal testing (NIPT) based
on cell-free DNA analysis from maternal blood is a screening test; it is not diagnostic. Test results must not be used as the sole basis for
diagnosis. Further confirmatory testing is necessary prior to making any irreversible pregnancy decision.

Sensitivity and specificity for trisomies 21, 18 and 13:

S ensitivity S pecificity
2-sided 9 5% C I 2-sided 9 5% C I
T riso m y 21 98.9% (90/91) > 99.9% (2965/2966)
(94.0%, 99.8%) (99.8%, 100.0%)
T riso m y 18 90.0% (18/20) 99.9% (3034/3037)
(69.9%, 97.2%) (99.7%, 100.0%)
T riso m y 13 100.0% (8/8) 99.9% (3045/3049)
(67.6%, 100.0%) (99.7%, 99.9%)
N um bers in brack ets next to sensitivity/specificity depict analyz ed cases. "VeriS eq N IPT S o lutio n Pack age Insert", Illum ina
Inc. 2

Concordance for sex chromosome aneuploidies and fetal gender:

XX XY X0 XXX XXY XYY
Percent C o nco rdant 97.4% (147/151) 100.0% (118/118) 100.0% (6/6) 80.0% (4/5) 100.0% (5/5) 100.0% (1/1)
C o nco rdance co m pared to clinical reference standard o utco m e and cyto genetic results; num bers in brack ets depict
analyz ed case s. "VeriS eq N IPT S o lutio n Pack age Insert", Illum ina Inc.

Report electronically signed by:

Dr. Samer Al Farawati, PhD, MSc
Laboratory Director

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CAP Registration 9051609 Tel: +971 (0) 4 344 0238 - Mail: info@firstgenomix.ae - Website: www.firstgenomix.ae