What is Preimplantation Genetic Diagnosis(PGT-M/SR)?
About
Preimplantation Genetic Testing for Monogenic/Structural Rearrangements (PGT-M/SR) is a test performed on fertilized eggs to diagnose specific genetic disorders and structural chromosomal abnormalities. It is intended for cases involving serious hereditary diseases and recurrent miscarriages that are considered to be caused by balanced chromosomal structural abnormalities. A portion of the TE cells (the part that will later develop into the placenta) from blastocysts 5 to 7 days after fertilization is collected, and the DNA is extracted, amplified, and analyzed.
At our company, PGT-M/SR (hereinafter referred to as this method) as well as PGT-A (a test for numerical chromosomal abnormalities) can be performed using TE cells that were removed during the assisted implantation technique known as “TE removal” conducted at medical institutions.
Diseases Handled
Diseases that can be diagnosed include but are not limited to these, so please contact us for more information.
- Duchenne muscular dystrophy
- Becker muscular dystrophy
- Fukuyama type congenital muscle dystrophy
- Fukuyama muscular dystrophy
- Myotonia (tension) dystrophy
- Spinocerebellar degeneration
- Joubert Syndrome
- Huntington's disease
- Adrenoleukodystrophy
- Mucopolysaccharidosis type Ⅱ
- Congenital ichthyosis
- Neurofibromatosis type I
- Retinoblastoma
- Alport syndrome
- Osteogenesis imperfecta
- Marfan syndrome
- Recessive genetic deafness due to GJB2 mutation
- Autosomal dominant cerebral aneurysm with subcortical infarction and leukoencephalopathy
- Charcot-Marie-Tooth disease
- Perinatal hypophosphatase
- Achondroplasia
- OTC deficiency
- Fabry disease
- Leigh encephalopathy
- Spinal muscular atrophy
- Pelizeus-Merzbacher
- Congenital myopathy
- Osteogenesis imperfecta type Ⅱ
- Adult-onset osteodysplasia
- Restrictive dermopathy
- Ornithine transcarbamylase deficiency
- PDHC deficiency
- 5,10-Methylenetetrahydrofolate reductase deficiency
- Lesch-Nyhan syndrome
- Glutaric aciduria type Ⅱ
- X-linked hereditary hydrocephalus
- Autoimmune diseases
- malformation syndrome
- Chromosome abnormalities (may cause serious disease)
Benefits & Risks
Benefits & RisksBenefits
- This method reduces the likelihood of passing on congenital diseases caused by specific genetic or chromosomal abnormalities.
- By using PGS also, embryos that cannot produce a pregnancy can be excluded from treatment, reducing the miscarriage rate and helping you spend less time on fertility treatment.
Risks
- By collecting TE cells, there is a possibility of damage to the blastocyst such as crushing and stunting. (However please note cell collection does not induce chromosomal abnormalities.)
- Since it takes about 4 weeks for the analysis results to be obtained, fresh embryo transfer is not possible when this method is used. Blastocysts from which TE cells have been collected are cryopreserved and thawed embryo transfer is performed based on the results of this method.
- Even if an embryo that does not show chromosomal abnormalities in PGD or PGS is transplanted and leads to pregnancy and childbirth, it is rare but possible that chromosomal abnormalities can be seen in the child. Possible causes for this include cases where the TE cells used for the test (the part that will become the placenta in the future) and the cells that become the fetus (ICM) have different chromosomes, or microdeletion that cannot be detected by NGS.
Methods
Methods
⑴ Counseling and Pre-inspection.
* It is necessary to submit the target genetic test report in advance. Based on that, we will carry out a genetic test with saliva (person and family) and perform counseling if necessary.
⑵ Egg collection, intracytoplasmic sperm injection (ICSI), and blastocyst culture.
⑶ TE Removal / cell biopsy.
⑷ Chromosome analysis.
About Results
Test Results
The result report will be mailed to you.
If you have any questions, please contact us by phone or email.
For Applications and Inquiries
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