Microgen Precision Dx - The future of Targeted Treatment

MicroGen Non-Invasive Prenatal Test (NIPT)

NIPT (Non-Invasive Prenatal Testing) is a groundbreaking prenatal screening method that uses a simple blood sample from the mother to analyze the DNA of the baby. This test provides valuable information about the risk of certain chromosomal conditions that could affect the baby's health.

Suitable after the 10th week of pregnancy
Singleton pregnancy
Twin pregnancy
IVF pregnancies using self-eggs, donor eggs, or surrogate pregnancies
Reports Fetal fraction
Reports gender

Blood specimen:	Test method:	TAT:
8-10 ml Maternal Blood	Cell-Free DNA extraction, massively parallel sequencing, and analysis of sequencing results to determine fetal aneuploidy.	7-10 Working days
8-10 ml Maternal Blood	Specimen: 8-10ml Maternal blood, STRECK BCT tube (18-25°C) + in case of Monogenic on request, required 2 buccal swabs (from biological father)

A Simple blood test using MOTHER'S BLOOD

Circulating Fetal DNA : During pregnancy, tiny fragments of the baby's DNA (cfDNA) are released from the placenta and enter the mother's bloodstream.
Blood Sample : A simple blood draw is taken from the pregnant woman.
DNA Analysis : Advanced laboratory techniques analyze the cfDNA in the blood sample to detect specific patterns associated with chromosomal abnormalities.

Possible test results

Low Risk : There is a low indication for the presence of trisomy 21, 18, or 13 in the baby.
High Risk : There is a strong suspicion of the presence of trisomy 21, 18, or 13 in the baby.

To have complete certainty, an abnormal NIPT result should always be confirmed by an invasive test, preferably by amniocentesis.

Important Considerations

Sample Requirements
Biological Parent Samples: Both biological parents' samples are required for accurate results. The test result is valid only with these samples.
Fetal Fraction: In some cases, the amount of fetal DNA in maternal blood (less than 4%) may be insufficient, necessitating a redraw.

Understanding Test Limitations
Screening Nature: MicroGen Monogenic is a screening test. A positive result should always be followed by confirmatory testing before any irreversible decisions are made.
Conditions Not Covered: This test does not rule out other chromosomal abnormalities, birth defects, or complications.
Potential for Inaccuracies:

-Factors such as maternal, fetal, and placental mosaicism can lead to false positive or negative results.
-Conditions like malignancies, prior cancer history, organ transplants, recent transfusions, fetal reduction, vanishing twin syndrome, or fetal demise may also affect accuracy.

Note: The test does not screen for polyploidy (e.g., triploidy).

**For a definitive diagnosis, chorionic villus sampling, or amniocentesis would be necessary.

Why Choose MicroGen NIPT?

Precision and Accuracy : Our advanced technology ensures reliable and accurate results.
Expert Guidance : Our team of experienced professionals is dedicated to providing personalized support.
Peace of Mind : Gain valuable information to make informed decisions about your pregnancy.

Benefits of MicroGen NIPT

Early Detection : Gain peace of mind earlier in your pregnancy.
Non-invasive : A safe and comfortable procedure that avoids risks associated with invasive tests.
Comprehensive Analysis : Get a complete picture of your baby's genetic health.
Personalized Options : Choose the testing option that best suits your needs and preferences.

Who should consider MicroGen NIPT for Prenatal Screening?

Pregnant women of any age who want to gain insight into their baby's development.
Women who are 35 years or older (advanced maternal age).
Women who have abnormal or positive serum screening results.
Women with ultrasound findings of chromosomal abnormality.
Family history of chromosomal abnormality or birth defects.
Couples who have had a child with a chromosomal disorder.
Couples with a history of infertility or pregnancy loss (miscarriages or stillbirths).

American College of Obstetricians and Gynecologists (ACOG), support the use of NIPT as the first line of screening for all pregnancies, irrespective of maternal age or baseline risk. [Obstet Gynecol. 2007;109(1):217-227. Obstet Gynecol. 2007;110(6):1459-1467].

Technology we use:

Next Generation Sequencing

MicroGen NIPT leverages the power of Massively Parallel Sequencing, using a signature algorithm to target and more deeply analyze fetal chromosome material. Grounded in scientific research, MicroGen NIPT has been rigorously validated using clinical outcome performance data and overall faster results to you and your patients.

Syndrome	Sensitivity	Specificity
Trisomy 21 Down Syndrome	99.14%	99.14%
Trisomy 18 Edward's Syndrome	98.31%	99.90%
Trisomy 13 Patau Syndrome	98.15%	>99.95%

For Singleton, Vanishing Twin, and IVF Singleton Pregnancies

When to Test
After the 10th week of gestation.
Conditions Covered
All 23 autosomal chromosome aneuploidies.
Sex chromosome aneuploidies.
116 microdeletions.
Special Consideration for Vanishing Twin Pregnancies
Testing should occur four weeks after the vanishing event.

For Twin Pregnancies

10th to 12th Week of Gestation
Eligible for testing trisomies 21, 18, and 13, along with selected 4 microdeletions.
After the 12th Week of Gestation
Expanded testing to include all 22 autosomal chromosomes for aneuploidies, 116 microdeletions/duplications, and Y chromosome detection.
Note
Sex chromosome aneuploidies are not included for twin pregnancies.

MicroGen Monogenic Testing

Eligibility
Available for singleton, twin, and vanished twin pregnancies after the 10th week of gestation, including IVF pregnancies using the mother's own eggs.
Conditions Covered
Trisomies 21, 18, and 13.
Selected 4 microdeletions.
Note
Sex chromosome aneuploidies are not eligible for twin and vanished twin gestations.
Ineligible Cases
Pregnancies resulting from egg/sperm donation or surrogacy
Patients with a history of malignancy, bone marrow or organ transplants, or recent blood transfusions.

Indications Detected

Down Syndrome (Trisomy 21)

Incidence: Approximately 1 in 1,000 to 1 in 1,100 live births worldwide.
Characteristics: Extra copy of chromosome 21 [https://www.un.org]

Sex Chromosome Aneuploidy

Turner syndrome: One X chromosome (X).
Klinefelter syndrome: Extra X chromosome (XXY).
Triple X syndrome: Three X chromosomes (XXX).
Jacob’s syndrome: Extra Y chromosome (XYY).

Microdeletions* 8 (*Any or all can be added)

1p36 deletion syndrome
2q33.1 deletion syndrome
4p16.3 Wolf-Hirschhorn syndrome
5p15.3 Cri du chat syndrome
7q11.23 Williams beuren syndrome
11q23 Jacobsen syndrome
15q11.2 Prader-Willi / Angelman syndrome
22q11.2 DiGeorge syndrome

+ More

Microdeletions

1p36 1p36 deletion syndrome
2q33.1 2q33.1 deletion syndrome
4p16.3 Wolf-Hirschhorn syndrome
5p- Cri Du Chat syndrome
7q11.23 Williams-Beuren syndrome
11q23 Jacobsen syndrome
15q11.2-q13 Prader-willi/Angelman syndrome
22q11.2 DiGeorge syndrome
1p32-p31 deletion syndrome
1p41-q42 deletion syndrome
1q43-q44 deletion syndrome
2p12-p11.2 deletion syndrome
2p15-p16.1 deletion syndrome
2q13 deletion syndrome
2q13 duplication syndrome
2q31.1 microdeletion syndrome
2q31.1 duplication syndrome
2q35 duplication syndrome
3p25.3 deletion syndrome
3pter-p25 deletion syndrome
3q13.31 deletion syndrome
Dandy- Walker syndrome (DWS)
3q26 microduplication syndrome
3q29 deletion syndrome
4q21 deletion syndrome
Axenfeld-Rieger syndrome, type 1 (RIEG1)
5p13 duplication syndrome
5q12 deletion syndrome
5q14.3 deletion (proximal) syndrome
Sotos syndrome
6p22 microdeletion syndrome
6q11-q14 deletion syndrome
6q24-q25 deletion syndrome
Coffin-Siris syndrome 1 (CSS1)
Chordoma
Greig cephalopolysyndactyly syndrome ( GCPS)
7p22.1 microduplication syndrome
7q11.23 deletion (distal) syndrome
Williams-Beuren syndrome (WBS)
Currarino syndrome
8q12 microduplication syndrome
Nablus mask-like facial syndrome (NMLFS)
7q36.3 duplication syndrome
8p11.2 deletion syndrome
8p23.1 deletion syndrome
Trichorhinophalangeal syndrome type 2 (TRPS2)
9p deletion syndrome
9p13 microdeletion syndrome
9p24.3 deletion syndrome
9q33.3q34.11 microdeletion syndrome
Early infantile epileptic encephalopathy 4 (EIEE4)
Kleefstra syndrome 1 (KLEFS1)
10p11.21-p12.31 microdeletion syndrome
DiGeorge syndrome/ velocardiofacial syndrome complex 2 (DSG2)
10q22.q23.2 deletion syndrome
Split-hand/foot malformation 3 (SHFM3)
10q26 deletion syndrome
Potocki-Shaffer syndrome
WAGR syndrome
WAGRO syndrome
11q13.2-q13.4 deletion syndrome
11q22.2q22.3 microdeletion syndrome
11q23 deletion syndrome
12p12.1 microdeletion syndrome
12q14 microdeletion syndrome
12q15q21.1 microdeletion syndrome
13q14 deletion syndrome
14q11-q22 deletion syndrome
Frias syndrome
14q24.1-q24.3 microdeletion syndrome
15q13.3 deletion syndrome (BP4 to BP5) (loss)
15q13.3 deletion syndrome (BP4 to BP5) (gain)
15q14 microdeletion syndrome
15q25.2 deletion (proximal) syndrome
15q26-qter deletion syndrome
16p11.2-p12.2 microduplication syndrome
16p12.2 deletion (proximal) syndrome
16p13.11 duplication syndrome
16p13.11 deletion syndrome
Polycystic kidney disease, infantile severe,with tuberous sclerosis (PKDTS)
Rubinstein- Taybi syndrome
Alpha-thalassemia/intellectual disability syndrome,chromosome 16-related (ATR-16 syndrome)
16q22 deletion syndrome
Smith-Magenis syndrome
Yuan-Harel-Lupski syndrome (YUHAL)
17p12 deletion syndrome
17p12 duplication syndrome
17p13.1 deletion syndrome
Miller-Dieker lissencephaly syndrome (MDLS) (loss)
Miller-Dieker lissencephaly syndrome (MDLS) (gain)
17p13.3 telomeric duplication syndrome
17q12 deletion syndrome
17q21.3 deletion syndrome
17q23.1-q23.2 deletion syndrome
Tetrasomy 18p syndrome
18p deletion syndrome
18q deletion syndrome
19p13 duplication syndrome
19q13.11 microdeletion syndrome
20p13 microdeletion syndrome
21q22.11-q22.12 microdeletion syndrome
22q11.2 deletion syndrome
22q11.2 deletion syndrome (LCR22 B/C-D)
22q13 deletion syndrome
22q13 duplication syndrome
Xp11.22 duplication syndrome
Xp11.22-p11.23 duplication syndrome
Xp11.23 microdeletion syndrome
Xp11.3 deletion syndrome
Xp21 microdeletion syndrome
Xp21.2 microdeletion syndrome
Xp22.31 microdeletion syndrome
Xq21 microdeletion syndrome
Xq22.3 telomeric deletion syndrome
Xq27.3-q28 duplication syndrome
Xq28 deletion syndrome

Edwards Syndrome (Trisomy 18)

Incidence: Approximately 1 in 6,000 live births.
Characteristics: Extra copy of chromosome 18. More common in females [https://www.un.org]

Patau’s Syndrome (Trisomy 13)

Incidence: Approximately 1 in 5,000 total births.
Characteristics: Extra copy of chromosome 13. [https://www.ncbi.nlm.nih.gov/]

Monogenic Disorders 100

Alpha Thalassemia
Beta Thalassemia
Hemophilia A
Hemophilia B
Hepatolenticular Degeneration (HLD)
Phenylketonuria (PKU)
Androgen Insensitivity Syndrome ( AIS)
Fragile X Syndrome

+ More

Test Overview

Available Tests

Genetic Counseling

We offer complimentary pre- and post-test genetic counseling provided by our skilled and certified genetic counselors. Our commitment to exceptional patient care includes:

Personalized Counseling Sessions
Ensuring tailored, one-on-one consultations for optimal care.
Clear and Understandable Results
Providing easy-to-understand information about test results.
Dedicated Support
Offering comprehensive assistance throughout the genetic testing process.

Let MicroHealth be your trusted resource for genetic information and support.

Schedule Genetic Counselling

MicroGen Non-Invasive Prenatal Test (NIPT)

A Simple blood test using MOTHER'S BLOOD

Important Considerations

Why Choose MicroGen NIPT?

Benefits of MicroGen NIPT

Who should consider MicroGen NIPT for Prenatal Screening?

Technology we use:

Indications Detected

Test Overview

Documentation

Brochure

Clinical Sheets

TRF

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