Preimplantation Genetic Testing For Monogenic Disorders

Preimplantation Genetic Testing (PGT-M) using NGS checks for single gene disorders when parents carry the condition and thus at risk of transmitting to their children. PGT-M allows us to select embryos free of a specific known disorders prior to implantation and pregnancy.

Possible candidates for PGD

  1. Carriers of single gene disorders;

  2. Couples who have a child/children affected by a single gene disorders;

  3. Couples who have a family history of a single gene disorders.

Example of common single gene disorders in Asia

  • Alpha Thalassemia;

  • Beta Thalassemia;

  • Hemophlia A (F8);

  • Hemophilia B (F9);

  • Autosomal Dominant Polycystic Kidney Disorders (ADPKD);

  • Autosomal Recessive Polycystic Kidney Disorders (ARPKD);

  • Duchenne muscular dystrophy;

  • Congenital Adrenal Hyperplasis;

  • Spinal muscular atrophy (SMA);

  • Fragile X Syndrome;

  • Phenylketonuria (PKU);

  • Galactosemia;

  • Wilson Disorders;

  • Deafness (GJB2 gene)

Example of rare single genes disorders

  • Krabbe disease

  • Osteogenesis Imperfecta I

  • Kennedy’s disease

  • Mucopolysaccharidosis I

We also offer PGD for other single gene disorders which require personalized development. 

5 Steps to perform the PGD

  1. Consultation, Provide us family history and the genetic reports, if already done. Answer within 3 days;

  2. Pre-PGD, Genetic testing of wife, husband, and close relatives (prefer affected child) to identify the specific disorders mutation in the family, if not already done. Answer within 1 month;

  3. IVF and Embryo Biopsy, Embryos are created and grown to the blastocyst stage;

  4. PGD, Blood samples from the couple and from close relatives of known the disorders status are required. Answer within 2 months for common disorders and 4 months for less common disorders;

  5. Normal Embryo Transfer.