Patient Sample information

Sample ID: VRS11876 Draw date: 25/10/2023

Name: Dragana Reception date: 30/10/2023

Surname: VUKSANOVIC Report date: 31/10/2023

206
Date of birth: 03/01/1989

Clinical information
Sample type: Blood

Pregnancy: Singleton IVF Pregnancy: No

Gestational age (WW+D): 10+5
SERBIA
Bio Save Lab Beograd Bio Save Lab Novi Sad Clinical indication: □ Advanced maternal age □ Abnormal ultrasound
Admirala Geprata 10, Beograd Branimira Cosica 13, Novi Sad □
x Maternal request □ Positive serum screen
T 011 7617206 T 021 530776 □ Clinical history □ Other

RESULTS SUMMARY
CHROMOSOME RESULTS
Chromosome 21: NEGATIVE: No aneuploidy detected

Chromosome 18: NEGATIVE: No aneuploidy detected

Chromosome 13: NEGATIVE: No aneuploidy detected

Fetal sex: Chromosome Y detected Male fetus

Sex chromosomes (SCA): NEGATIVE: No aneuploidy detected

Deletions and duplications (CNVs) > 7Mb: NEGATIVE: Absence of deletions and duplications

Other chromosomes (RAAs): NEGATIVE: No aneuploidy detected

Fetal fraction: 8% - FF is one component of this algorithm and is combined with other quality metrics to determine the confidence in the results

Test methodology
Plasma isolation, cf-DNA extraction, library preparation, DNA sequencing and analysis of sequencing results to determine fetal aneuploidy. Methodology by VeriSeq™ NIPT
Solution V2, CE-IVD (powered by Illumina). Whole-genome assay sequencing by NextSeq 550Dx System.

Limitation of the test

QUALIFIED is validated for aneuploidy of any chromosome, including 21, 18, 13, and for partial duplication and deletions >7 Mb in all chromosomal regions, for twin or non-
evolving co-twin pregnancies sex chromosome aneuploidies are not detectable, with gestational age of at least 10 weeks 1 days. Test results might not reflect the true fetal
chromosome constitution as false positives or false negatives could occur. Among the main known causes of discrepancies, the most frequent are due to biological
factors included but not limited to the presence of a vanishing twin, fetal mosaicism of low proportion, confined placental mosaicism or unrecognized maternal
chromosomal abnormalities. In twin pregnancies with a non-evolving co-twin (vanishing twin) the test result may reflect the chromosomal status of the vanishing twin,
leading to a higher probability of false positive or false negative results or no results. A normal result does not eliminate the possibility that the pregnancy is associated with
other chromosomal or sub chromosomal abnormalities, birth defects, genetic conditions, or other conditions, such as open neural tube defects. Some of these rare
chromosomal aneuploidies may only occur in mosaic form. Clinical consequences depend on the chromosome involved and can not be predicted prenatally. This test, like
many tests, have limitations, including false negative and false positive results. See performance metrics for test performance.

Trisomy 21 Trisomy 18 Trisomy 13 Other Aneuploidies CNVs (>7Mb)

Sensitivity > 99% > 99% > 99% 96.40% 74.10%

Specificity 99.90% 99.90% 99.90% 99.80% 99.80%

Fetal sex concordance

100% 90.5% 91.7%

XX, XY, XXX, XXY XO XYY

VeriSeq NIPT v2 CE-IVD Product insert (Singleton gestations excluding mosaicics)

Disclaimer
The manner in which this information is used to guide patient care is the responsibility of the health care provider, including advising for the need for genetic counseling or
diagnostic testing. Any test should be interpreted in the context of all available clinical findings.

Medical Geneticists Methodology by VeriSeq™ NIPT Solution V2, CE-IVD (powered by Illumina)
Dr. Irene Iezzi
Digitally signed electronic document

The test is performed in service by the Veritas LGC laboratories based in Barcelona -Spain