PGD 9 (chromosomes) 1500 €
Recommended for couples that have a genetic predisposition and/or have any probability of passing down a known genetic abnormality
genetic testing of an embryo for a specific gene mutation
Guarantee of a healthy child. Free of any genetic disorders
5-7 days. results waiting time
What is Preimplantation genetic diagnosis (PGD)?
Preimplantation Genetic Diagnosis (PGD) is a diagnostic test that looks for a specific genetic disorder that intended parents may already be aware of and thus would like to find out the chances of passing it to their offspring and, then, eliminating that risk.
Genetic disorders are very common. Did you know that about 1 in 50 people can be affected by a single-gene disorder and about 1 in 263 people can be affected by some type of chromosomal problem. 65% of the population have health issues caused by congenital genetic mutations. Fortunately, PGD has been designed to diagnose some of the most frequent genetic diseases such as Duchenne muscular dystrophy, cystic fibrosis, Fragile X syndrome, hemophilia A, myotonic dystrophy, Huntington’s disease, sickle cell anemia, spinal muscular atrophy, Tay-Sachs disease, etc.
Advantages of PGD:
- With the help of the NGS genetic testing is possible to study the complete chromosome set of embryos before their transfer to the uterus.
- This makes it possible to identify not only more common chromosomal abnormalities (for example Down's syndrome), but also rare violations in the set of chromosomes, up to small doublings (duplications) or losses (deletions) in the structure of chromosomes.
- It is also important to use the NGS testing in invasive prenatal diagnosis. The development of fetal malformations is often associated with chromosome abnormalities, both quantitative and structural (microdeletions, microduplications).
Who is Preimplantation Genetic Diagnosis is suitable for?
- PGD is recommended for couples that have a genetic predisposition and/or have any probability of passing down a known genetic abnormality. Any couple with a family history of aneuploidy (abnormal number of chromosomes) which results in miscarriage, birth defects, or Down Syndrome can be screened.
- In addition, families that have a history of single-gene defects—such as cystic fibrosis, sickle cell anemia, and muscular dystrophy—can consider PGD testing.
- Through this procedure, the highly skilled laboratory staff at New England Fertility will determine which embryos are unaffected and therefore the most viable for uterine transfer.
What is the process of chromosome testing by PGD?
Chromosome testing by next generation sequencing involves taking a few cells from a developing embryo for testing.
Next generation sequencing amplifies DNA from the cell’s nucleus by multiplying it many thousand of times before using sequencing technology to count the number of copies of each chromosome present in the cells from the embryo.
This allows the scientists to accurately detect chromosomal errors, so only an embryo with a normal chromosome profile is selected for transfer, increasing the chance of a successful pregnancy.While the majority of biopsies are undertaken on Day 5 embryos, we have the flexibility to undertake the biopsy on any day during embryo development depending on the patient’s individual circumstances.
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