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Genetic Diagnosis with PGD and NGS

Genetic Diagnosis with PGD and NGS

PGD is the process of performing genetic testing on embryos during IVF and transferring only the healthy ones to the mother.

Genetic diagnosis and screening

In IVF treatments, success is closely related to the genetic health of embryos. PGD (Preimplantation Genetic Diagnosis) and NGS (Next Generation Sequencing) allow embryos to be genetically analyzed so that only healthy embryos are transferred to the mother.

What is PGD?

Determines whether embryos are genetically healthy
Detects single-gene disorders and chromosomal abnormalities early
Reduces miscarriage risk and increases the chance of a healthy baby

How PGD is applied

Embryos are created using the egg and sperm of the mother and father
Three days after fertilization, when the embryo reaches 8 cells, a single cell is biopsied
DNA analysis determines the genetic health of the embryo
Healthy embryos are transferred to the mother

Conditions detectable by PGD

Down Syndrome (Trisomy 21)
Edwards Syndrome (Trisomy 18)
Patau Syndrome (Trisomy 13)

Comprehensive screening with NGS

NGS is an advanced genetic testing method that enables detailed screening of all 24 chromosomes in embryos during IVF. On day 5–6, when embryos reach the blastocyst stage, a few cells are biopsied and the embryos are frozen until the analysis is complete.

Screens all 24 chromosomes numerically and structurally
Detects mosaic embryos
Highly reliable with low error rates
Enables simultaneous screening of single-gene disorders and HLA typing

Who should use NGS?

Couples with recurrent miscarriages
Women aged 38 and above
Severe male infertility cases
Unexplained infertility
Couples with repeated failed IVF attempts

Important notes for patients

Test results may categorize embryos as healthy or unhealthy
Not all embryos may be suitable for transfer; there are no guarantees
Gender selection can only be performed in cases of medical necessity, such as the risk of sex-linked genetic diseases
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