Introduction to Preimplantation Genetic Diagnosis (PGD)

    The conduction of IVF for patients or carriers of genetic disorders or chromosomal abnormalities to ensure the health of implanted embryos.

    Application of Preimplantation Genetic Diagnosis
    • Single-gene disorder
    • Structural abnormalities of the chromosomes
    • Numerical abnormalities of the chromosomes
    Procedure for Preimplantation Genetic Diagnosis

    * Preparation time for each procedure may vary depending on the type of the genetic defect

  • PGS

    Introduction to Preimplantation Genetic Screening (PGS)

    Used in cases where the prospective parents do not have confirmed chromosomal defects, but the risk of chromosomal abnormalities is high enough to suggest high rates of miscarriages Diagnosis takes place using the array CGH method, which screens all 46 chromosomes.

    Target for Preimplantation Genetic Screening
    • Numerical chromosomal abnormalities
    • Advanced age in the prospective mother
    • Recurrent pregnancy loss
    • Repeated failure of implantation
    • Oligozoospermia
    • Prior pregnancy with a chromosome abnormality
    Procedure for Preimplantation Genetic Screening

  • FXS

    Fragile X syndrome (FXS) is the second most common hereditary disorder following Down syndrome. Affected individuals exhibit moderate intellectual disability (ID). Prevalence is 1 in every 2,000 boys and 1 in every 4,000 to 8,000 girls. About 30% of males and 10% of females with ID have FXS.

    Characteristic clinical symptoms include behavioral disorders, intellectual disability, enlarged testes, long face, protruding chin and prominent ears for boys and diverse types of intellectual disabilities for girls.

    Do healthy women also need to be tested ?

    FXS is a disorder that is typically inherited from the mother. It has been reported that 1 out of 200 to 300 women are at high risk for giving birth to a child with FXS. Also, premutation is known to be a cause of premature menopause. Thus, the test can help to prevent the birth of an intellectually disabled child, early diagnose thepremature menopause and allow the affected individual to better prepare for it.

    The test is recommended to those with a family history (incl. family members and relatives) of autism, intellectual disability, development disorder or premature menopause.

    How is the “premutation carrier test” performed ?

    DNA is extracted from the patient’s peripheral blood (3~5ml) to analyze the number of CGG sequence repeats in the gene that can cause the fragile X syndrome.

    The patient will be notified in 2 weeks if the result is “heterozygote” and in 4 weeks for “homozygote” (in this case, an additional test using the Southern Blot method is necessary).

    If the woman is a permutation carrier, how can the fetus be tested for intellectual disability ?

    Women diagnosed with permutation carriers are at risk of giving birth to affected children. Carriers can receive genetic counseling and opt to undergo a thorough fetus examination including amniocentesis and chorionic villi sampling.

    Exam procedure

  • Why Choose CHA Fertility Center ?


    A team of researchers and medical professionals with the vast experience in Preimplantation Genetic Diagnoses in Korea


    Collaboration between top In-Vitro Fertilization center and high-end genetic medical technique


    Diverse and rich experiences, and minimal waiting time


    High quality of patient counseling and education


    State-of-the-art facilities and equipments


    State-of-the-art facilities and equipment