PGT Max 1

The PGT MAX 1 (High-Resolution PGT) test is a pre-embryo transfer genetic analysis test with an upgraded version of the genomic sequencing results analysis technology compared to the conventional PGTest test.

PGT MAX 1 helps to select more optimal embryos with good genetic quality, increases the chances of conception when performing in vitro fertilization (IVF), helps babies to be born healthy, free from complications Screened genetic abnormalities.

• Increase chances of conception, reduce miscarriage rate
• Increase survival rate, reduce IVF cycle needed to get pregnant
• Reducing the risk of babies being born with a single gene disease
• Reduce risk of multiple pregnancy
• Save cost and time of IVF

ADVANTAGES of PGT MAX 1:

• Detect abnormal number of 24 chromosomes
• Mosaic detection (20% – 80%)
• Detect structural abnormalities, microdeletions > 5 Mb

SPECIAL:

Detects 2 more common micro-deletion abnormalities as small as 2 Mb:

Deletion of 22q11.2 (associated with DiGeorge syndrome)

+ 1p36 deletion (associated with 1p36 deletion syndrome)

The PGT MAX 1 test supports the selection of embryos that do not have 24-chromosome aneuploidy, carry no additional/deleted chromosomal abnormalities, and support optimized embryo selection prior to embryo transfer.

Compared with previous PGTest tests (PGT-A, PGT-SR) which only detected microdeletions > 5Mb in size, PGT MAX 1 test detected 2 more common microdeletion syndromes with size as small as 2Mb, associated with genetic syndromes with a relatively high rate of birth: DiGeorge Syndrome & Deletion Syndrome 1p36.

PGT-A

-Detect abnormal number of 24 chromosomes

- Mosaic detection (20% - 80%)

PGT-US

- Screening embryos carrying disease genes or carrying diseases (for monogenic diseases)

PGT-SR

- Detecting chromosomal abnormalities (microdeletions, repeats > 5 Mb)

- Mosaic detection (20% - 80%)

PGT High Resolution (PGT-MAX 1)

- Detect abnormal number of 24 chromosomes

- Detecting chromosomal structure abnormalities (microdeletions, repeats >2 Mb in size) 

- Detecting chromosomes kham (20% - 80%)

DiGeorge Syndrome:

• The syndrome was first described in 1968 by American doctor Angelo DiGeorge.
• accounted for about 1 in 4000 births, the second most common after Down syndrome in genetic syndromes in infants [1], [2].
• The classic DiGeorge syndrome is described as a microdeletion of the long arm of chromosome 22 (microdeletion 22q11.2). This mutation accounts for about 90% of cases diagnosed with DiGeorge syndrome [3].

5 common signs of DiGeorge Syndrome:

- Congenital heart defects

- Cleft palate

- Hypoparathyroidism leading to low blood calcium levels (seizures)

- Infection

- The face is characterized by low ears, wide eyes, small jaw, narrow groove on the upper lip

Clinical Research for DiGeorge Syndrome:

• Research published in the National Library of Medicine (NIH) with the title: “A population-based study of 22q11.2 deletion: Phenotype, prevalence and contribution to major birth defects in population"

- Performed on 255 849 births

- The prevalence of this syndrome is about 1/6000 in white, black and Asian populations and about 1/3800 in Hispanic populations.

• A study published in the Journal of Obstetrics and Gynecology (VAGO) with the topic: “Chromosome abnormalities in fetuses with congenital heart defects”

- In 92 pregnant women with fetal heart abnormalities, amniocentesis was performed for chromosomal testing: the results showed that 2/92 cases of 22q11.2 microdeletion (DiGeorge syndrome)

- Congenital heart disease (BTBS) is abnormalities in the structure of the heart and blood vessels during pregnancy in the second and third months of pregnancy, with an incidence of 14/1000 live births.

1p36 deletion syndrome

Deletion of 1p36 is a typical syndrome that causes problems with mental retardation. 1p36 deletion syndrome has an incidence of about 1/5000 to 1/10,000 in neonates.

Manifestations of the majority of people with Deletion Syndrome 1p36:

- Can't speak or can only say a few words

- There are structural brain abnormalities, seizures occur in more than half of patients with this syndrome

- May be accompanied by myasthenia gravis and difficulty swallowing (dysphagia)

Typical symptoms:

- Unbalanced head size, deep eyes, straight eyebrows, midface hypoplasia, large nose;

- wide nose and mouth gap (philtrum); pointed chin; irregularly shaped ears.

- There may be problems with seeing and hearing.

- Some people have abnormalities of the skeletal system, heart, digestive system, kidneys, or sex organs.

Clinical study for 1p36 Deletion Syndrome:

• Evaluation study: a large proportion of 1p36 deletions are not genetic. It results from chromosomal deletions that occur randomly during gamete formation (sperm or egg) or during early fetal development.

People with 1p36 deletion syndrome who receive an unbalanced translocation will have genetic material deficiency on the short arm of chromosome 1 leading to the postpartum effects and health problems characteristic of the syndrome.

SUMMARY TABLE OF DISEASE RATES / CHILDREN BIRTH WITH SPECIAL GENERAL SYMPTOMS

=> From clinical studies on these two genetic syndromes, it is necessary to perform screening for genetic abnormalities before PGT MAX 1 embryo transfer.

• Age of pregnant mother from over 35 years old
• History of multiple miscarriages
• History of IVF implantation failure
• Having male infertility factor
• Families with genetic abnormalities or children with genetic abnormalities

Step 1: Take embryo biopsy sample on day 5

Step 2: Extract the DNA of the embryonic cell sample and amplify it with the Veriseq PGS Kit

Step 3: Sequencing on NGS next generation sequencer (Illumina)

Step 4: Analyze sequencing results using specialized bioinformatics software

Step 5: Return results 5-7 days

On the market today, GENTIS is the first unit to deploy the PGT Max 1 test with advanced update technology, allowing to detect more related microdeletion/segmentation abnormalities (>2mb in size) to some common genetic diseases and syndromes.

Sample used:

Embryo biopsy sample on day 5

Methods used:

Sequencing the new generation of NGS (Illumina) and analyzing the sequencing results using specialized bioinformatics software to identify aneuploidies of the entire 24 chromosomes and other abnormalities, deletions of chromosomes.

Time to return results:

5-7 days

Testing technology:

- Using sequencing technology from Illumina, USA and Specialized Analysis Software

- High reliability with sensitivity >99% and specificity >99%

- High resolution, detect chromosomal structural abnormalities (deletions, repeats > 5mb), especially detect more deletions > 2Mb related to common genetic syndromes such as: DiGeorge syndrome (deletion 22q11.2) and 1p36 syndrome.