Non-Invasive Prenatal Screening (NIPS)

Patient name : Mrs.Mamta Chaudhary Specimen : Peripheral blood

Date of Birth/Age : 07-09-1995/ 28 Years PIN : AND24100000562

Gestational Age : 17 Weeks/ 0 Days Sample Number : 102400564

Pregnancy Type;
: Natural Pregnancy; Singleton Sample collection date : 14-05-2024
Status
Referring Clinician : Dr. Astha Dayal (Noida) Sample received date : 16-05-2024

Hospital/Clinic : Dr. Astha Dayal (Noida) Report date : 21-05-2024

This test does not reveal sex of the fetus & confers to PNDT act, 1994

Test Indication

To screen for chromosomal aneuploidies

Test Performed

NIPS for 23 pairs of chromosomes (including sex chromosomal aneuploidies)

Result Summary

Screen result: Low risk Fetal fraction: 13.53%

Aneuploidies Results

Chromosome 21 Low risk

Chromosome 18 Low risk

Chromosome 13 Low risk

Sex Chromosomes* Low risk

Other Autosomes Low risk

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 Reference
Chromosome tested Z Score Test result
interval

Chromosome 1 0.49 Low risk -6<Z score<6

Chromosome 2 -0.02 Low risk -6<Z score<6

Chromosome 3 -0.50 Low risk -6<Z score<6

Chromosome 4 0.74 Low risk -6<Z score<6

Chromosome 5 -0.77 Low risk -6<Z score<6

Chromosome 6 -1.08 Low risk -6<Z score<6

Chromosome 7 1.04 Low risk -6<Z score<6

Chromosome 8 0.79 Low risk -6<Z score<6

Chromosome 9 0.34 Low risk -6<Z score<6

Chromosome 10 1.04 Low risk -6<Z score<6

Chromosome 11 1.53 Low risk -6<Z score<6

Chromosome 12 0.97 Low risk -6<Z score<6

Chromosome 13 0.30 Low risk -6<Z score<2.8

Chromosome 14 1.82 Low risk -6<Z score<6

Chromosome 15 -0.61 Low risk -6<Z score<6

Chromosome 16 0.43 Low risk -6<Z score<6

Chromosome 17 -0.72 Low risk -6<Z score<6

Chromosome 18 -0.05 Low risk -6<Z score<2.8

Chromosome 19 0.47 Low risk -6<Z score<6

Chromosome 20 0.70 Low risk -6<Z score<6

Chromosome 21 -0.60 Low risk -6<Z score<2.8

Chromosome 22 1.00 Low risk -6<Z score<6

*As per PCPNDT act, the reference Z scores for sex chromosomal aneuploidies will not be provided.

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Interpretation

 The results show low risk for all the autosomes and sex chromosomes.
 The fetal fraction was sufficient for analysis.
 A negative result means that the baby has a low risk of having the condition listed in the report. The
results should be communicated by the clinician with appropriate counseling.

Recommendation

 Genetic counseling is recommended.

 Prenatal diagnostic testing is strongly recommended to substantiate NIPS findings.

Test Method

Maternal whole blood sample was taken from the pregnant mother after 10-week gestation with no risk to
the fetus. The circulating cell-free placental DNA was isolated and purified, which was then converted into
genomic DNA library using Yourgene cfDNA Library prep kit. This was followed by automated size selection
of fragment lengths by QS250 for enriching fetal fraction. The enriched sample pool was subjected to high
throughput sequencing using Ion GeneStudio S5 Plus™ System. Finally, analysis was performed using Sage
Link V2.

Test Limitations

Test performance is valid only for full chromosomal aneuploidies involving all the autosomes and sex
chromosomes with an accuracy of up to 99.99% for aneuploidies pertaining to chromosomes 13, 18 and 21.
The method is intended for use in pregnant women who are at least 10+ weeks pregnant. The method is
suitable for both singleton and twin pregnancies. The accuracy may be slightly lower in twin pregnancies due
to multiple sources of fetal DNA. Patients with malignancy or a history of malignancy, patients with bone
marrow or organ transplant, patients pregnant with more than 2 fetuses are not eligible for the test. For
vanishing twins, sampling must be performed 8 weeks after vanishing event. The test is not intended and not
validated for mosaicism, triploidy, partial trisomy/monosomy, uniparental disomy or translocations.

A positive result for twin pregnancies indicates high risk for the presence of at least one affected fetus.
Pregnant women with a negative test result do not ensure an unaffected pregnancy. Although this test is
highly accurate, there is still a small possibility for false positive or false negative results. This may be caused
by technical and/or biological limitations, including but not limited to confined placental mosaicism (CPM) or

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other types of mosaicism, maternal constitutional or somatic chromosomal abnormalities, residual cfDNA from
a vanished twin or other rare molecular events.

This test is not a diagnostic but a screening test and results should be considered in the context of other
clinical criteria. Clinical correlation with ultrasound findings, and other clinical data and tests is recommended.

If definitive diagnosis is desired, invasive prenatal testing by chorionic villus biopsy (CVS) or amniocentesis is
necessary. The referral clinician is responsible for counselling before and after the test including the provision
of advice regarding the need for additional invasive genetic testing. This test is intended for clinical purposes
and should not be regarded as investigational or for research.

Disclaimer

No irreversible actions should be taken based solely upon the results of this screening test. 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. As with any screening test, any positive result should be confirmed with
diagnostic testing.

Test specifications

Table 1: Performance of Sage 32 NIPT workflow in singleton pregnancies

Condition Sensitivity Specificity PPV NPV FPR FNR

Trisomy 21 99.91% >99.99% >99.99% 99.99% <0.01% 0.09%

95%CI:99.49-100% 95%CI:99.99-100%

Trisomy 18 99.42% >99.99% >99.99% 99.99% <0.01% 0.58%

95%CI:96.82-99.99% 95%CI:99.99-100%

>99.99% >99.99% >99.99% >99.99% <0.01% <0.01%

Trisomy 13 95%CI:96.87-100% 95%CI:99.99-100%

Sex chromosomal >99.99% >99.99% 99.81% >99.99% 0.0014% <0.01%

aneuploidies 95%CI:99.31-100% 95%CI:99.99-100%

Other autosomal >99.99% >99.99% >99.99% >99.99% <0.01% <0.01%

aneuploidies 95%CI:98.03-100% 95%CI:99.99-100%

PPV – Positive predictive value; NPV – Negative predictive value; FPR – False positive rate; FNR – False negative rate

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Table 2: Performance of Sage 32 NIPT workflow in twin pregnancies

Condition Sensitivity Specificity PPV NPV FPR FNR

Trisomy 21 >99.99% >99.99% >99.99% >99.99% <0.01% <0.01%

Trisomy 18 >99.99% >99.99% >99.99% >99.99% <0.01% <0.01%

Trisomy 13 >99.99% >99.99% >99.99% >99.99% <0.01% <0.01%

Sex chromosomal
>99.99% >99.99% >99.99% >99.99% 0.0014% <0.01%
aneuploidies

Other autosomal
>99.99% >99.99% >99.99% >99.99% <0.01% <0.01%
aneuploidies
PPV – Positive predictive value; NPV – Negative predictive value; FPR – False positive rate; FNR – False negative rate

Prenatal Testing Algorithm

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References

1. Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP. Genome-wide fetal aneuploidy
detection by maternal plasma DNA sequencing. Obstetrics & Gynecology. 2012 May 1;119(5):890-901.
2. Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KA, Lun FM, Go AT, Lau ET, To WW, Leung WC.
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large
scale validity study. Bmj. 2011 Jan 11;342:c7401.
3. Chiu RW, Lo YM. Noninvasive prenatal diagnosis empowered by high‐throughput sequencing. Prenatal
diagnosis. 2012 Apr 1;32(4):401-6.
4. Dugoff L. Cell-Free DNA Screening for Fetal Aneuploidy. Topics in Obstetrics & Gynecology. 2017 Jan
15;37(1):1-7.

This report has been reviewed and approved by:

Dr. Sachin D. Honguntikar Dr. Suriyakumar.G

Head – Anderson Clinical Genetics Director

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