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Precision GenoMom

Why is the Precision GenoMom test important? Who should consider the Precision GenoMom test? What makes the Precision GenoMom test different? What can be identified through the Precision GenoMom test? How is the Precision GenoMom test performed? Test Information Test Limitations

Your baby’s very first hello, safeguarded with the precision of GenoMom.

Through NGS-based genomic analysis, we screen for fetal chromosomal abnormalities, helping to ease parents’ concerns.

The Precision GenoMom test analyzes fetal DNA circulating in the mother’s blood using next-generation sequencing (NGS). It screens for the risk of major chromosomal conditions such as Down syndrome, Edwards syndrome, and Patau syndrome.

Non-Invasive Prenatal Test (NIPT)

A screening test for fetal chromosomal abnormalities without invasive procedures

Major Chromosomal Disorders

21

Trisomy 21

Down Syndrome

DOWN SYNDROME

Occurs in approximately 1 in 800 births
18

Trisomy 18

Edwards Syndrome

EDWARDS SYNDROME

Occurs in approximately 1 in 8,000 births
13

Trisomy 13

Patau Syndrome

PATAU SYNDROME

Occurs in approximately 1 in 20,000 births

Why is the Precision GenoMom test important?

First

As maternal age increases, the risk of chromosomal abnormalities in the fetus also rises, making early detection essential.

Second

The Precision GenoMom test screens all expectant mothers for the risk of fetal chromosomal abnormalities and identifies high-risk cases that may require confirmatory diagnostic testing.

Age (years) Risk of Down syndrome Risk by maternal age at full term
45 1:35 1:18
40 1:85 1:62
35 1:353 1:178
30 1:940 1:384
25 1:1,340 1:475
20 1:1,480 1:525

Who should consider the Precision GenoMom test?

  • Women aged 35 and older
  • When there are concerns about fetal chromosomal abnormalities
  • When seeking a safe, non-invasive blood-based test
  • When severe maternal obesity has previously made it difficult to request the Precision GenoMom test
  • When ultrasound shows increased nuchal translucency (NT) thickness in the fetus
  • When biochemical blood screening indicates a high-risk result
  • When there is a suspected family history of chromosomal disorders such as Down syndrome
  • When there has been a pregnancy or miscarriage involving a chromosomal abnormality
  • When there are concerns about maternal and fetal DNA data being transferred overseas

What makes the Precision GenoMom test different?

Precision GenoMom provides more accurate results than traditional biochemical blood screening, while offering a safer alternative to invasive procedures such as amniocentesis or chorionic villus sampling (CVS) for detecting fetal chromosomal abnormalities.

Biochemical Blood Test Precision GenoMom Amniocentesis / Chorionic Villus Sampling (CVS)
Test type Screening Screening Diagnostic
Method Non-invasive Non-invasive Invasive
Detection rate 80~97% Over 99% Over 99%
False positive rate ~5% Under 1% Under 1%
Miscarriage risk None None Present
Testing period From 11 weeks From 8 weeks 15–20 weeks
Analysis method Biochemical marker analysis (PAPP-A, hCG, uE3, inhibin A) Next-generation sequencing (NGS) (Next Generation Sequencing) Fetal cell karyotyping (Karyotyping)

※ Based on Down syndrome detection

What makes the Precision GenoMom test different?

Plus screening for 165+ conditions (SAFE CHOICE)

  • 22 autosomal abnormalities (Chromosomes 1–22, including 20, 21, and 22)
  • 4 sex chromosome syndromes (Turner syndrome [XO], Klinefelter syndrome [XXY], Triple X syndrome [XXX], XYY syndrome)
  • 139 copy number variations (CNVs) — including 98 microdeletions, 41 microduplications, plus detection of all CNVs ≥3Mb

* The Precision GenoMom test can identify 165 chromosomal disorders listed in Orphanet, the European reference database for rare diseases.

Standard Panel – 18 Conditions

  • 6 Autosomal abnormalities Trisomy 21, Trisomy 18, Trisomy 13, Trisomy 9, Trisomy 16, Trisomy 22
  • 4 Sex chromosome syndromes Turner syndrome (XO), Triple X syndrome (XXX), Klinefelter syndrome (XXY), Jacobs syndrome (XYY)
  • 8 Copy number variations (CNVs) Wolf–Hirschhorn syndrome (4p16 deletion), DiGeorge syndrome (22q11.21 deletion), Williams syndrome (7q11.23 microdeletion), Cri-du-chat syndrome (5p deletion), Prader–Willi / Angelman syndrome (15q11–q13 deletion), Jacobsen syndrome (11q deletion), Miller–Dieker syndrome (17p13.3 microdeletion), Russell–Silver syndrome (7p11.2–p13 microduplication)

Twin / Vanishing Twin Panel – 6 conditions, 3 conditions

  • 6 Autosomal abnormalities Trisomy 21, Trisomy 18, Trisomy 13, Trisomy 9, Trisomy 16, Trisomy 22
  • 3 Autosomal abnormalities Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), Patau syndrome (Trisomy 13)

Lite Panel – 3 Conditions

  • 3 Autosomal abnormalities Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), Patau syndrome (Trisomy 13)

How is the Precision GenoMom test performed?

Sample collection

Maternal blood draw

Transport

Secure delivery by a certified courier service

Testing

Next-generation sequencing (NGS) analysis

Results

Screening for fetal chromosomal abnormalities

Test Information

Test name Non-Invasive Prenatal Test (NIPT) – Screening for fetal chromosomal abnormalities
Method Next-generation sequencing (NGS)
Panels available Plus: 165 conditions + detection of all CNVs ≥3Mb Standard: 18 conditions Twin / Vanishing Twin: 6 conditions, 3 conditions Lite: 3 conditions
Testing period Singleton pregnancies: from 8 weeks, Twin pregnancies: from 10 weeks (after 8 weeks for vanishing twin cases)
Specimen information Whole blood: 8 mL, room temperature (15–25℃) Plasma: 4 mL, frozen (-20℃)
Specimen container cfDNA collection tube (Cell Free DNA Tube)
Turnaround time 7 business days

Test Limitations

  • This test does not screen for chromosomal abnormalities outside of the specified panel, genetic disorders (e.g., neurofibromatosis, achondroplasia, Fragile X syndrome), or open neural tube defects.
  • The test cannot be performed or may be affected in certain cases. Providing accurate clinical information is essential, as conditions such as maternal chromosomal abnormalities, mosaicism, history of blood transfusion, organ or bone marrow transplantation, autoimmune disease, cancer, treatments (chemotherapy, stem cell therapy, anticoagulants), multifetal pregnancies with anomalies, or triploidy can impact test accuracy.
  • The test may be performed with the mother’s consent. However, if residual DNA from a demised twin remains, the results may be affected (e.g., false negatives or false positives).
  • While the test is a highly accurate screening tool for detecting fetal chromosomal abnormalities, the possibility of false negatives or false positives cannot be completely excluded. Confirmatory diagnostic testing is required, based on the results and clinical judgment.
    For singleton pregnancies / low-risk cases, a “low risk of fetal chromosomal abnormality” result means risk is low, but confirmatory testing is required if abnormalities are later detected by ultrasound. For singleton pregnancies / high-risk or borderline cases, a “high risk of fetal chromosomal abnormality” result means confirmatory diagnostic testing is required. For twin pregnancies / high-risk or borderline cases, a “high risk of fetal chromosomal abnormality in one or both fetuses” result means confirmatory testing is required for one or both fetuses.
  • Regarding fetal sex determination, results are based on the detection of the Y chromosome. Rarely, discrepancies in predicted fetal sex may occur (sensitivity 98.9%, specificity 99.6%). Biological causes include residual DNA from a vanished twin, sex chromosome mosaicism, maternal chromosomal abnormalities, disorders of sex development (DSD) such as androgen insensitivity syndrome, or history of blood transfusion / hematopoietic stem cell transplantation from a male donor. In such cases, further testing and confirmation may be necessary.
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GenomeCare
  • Headquarter 8F, Suite 810, Gwanggyo Central Biz Tower 260 Changnyong-daero, Yeongtong-gu, Suwon-si, Gyeonggi-do 16229, Korea 
  • Tel +82 1544-9771
  • Fax +82 31-8019-5004
  • E-mail info@genomecare.net
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