Genetic diseases that can be diagnosed by PGD

Almost all genetically inherited conditions that are diagnosed in the prenatally can also be detected by PGD.

It is possible to perform PGD for any genetic disorders, autosomal dominant, recessive or X-linked, with an identifiable gene. For pathologies caused by expansions of nucleotide triplets (such as Fragile X, Huntington's disease, Myotonic Dystrophy, etc.) it is possible to obtain information on the absence of triplet expansion. Whether or not to undergo examination must therefore be evaluated case-by-case. Below is a table listing of the most frequent genetic diseases that can be diagnosed by PGD.

Research and Development Section of “Genoma” Laboratory is able to set-up and perform PGD for any genetic disorders with an identifiable gene.

Conditions for which a PGD protocol is available in our Centre
 

Optimisation of PGD protocols for all diseases and mutations on request
Monogenic disease are always tested in combination with linked STR markers. Mutation analysis is performed by using minisequencing technique (if the mutations are known), linkage analysis (unknown mutations) or fluorescent PCR.

Aneuploidy screening is also offered in combination with mutation analysis for the following indication:
- recurrent miscarriages (RM): Chr 13, 14, 15, 16, 17, 21, 22, X
- repeated implantation failure (RIF): Chr 14, 16, 17, 21, 22, X
- advanced maternal age (AMA): Chr 13, 18, 21, X, Y

In PGD cases where the mutation is unknown (only clinical diagnosis) mutation screening by sequencing of the disease causing gene is also offered.



Next : PGD in Italy: 1PB Testing

 

• What is PGD
   
• Indications for PGD
  - Recurrent Miscarriage
  - Unsuccessful IVF Cycles (>2)
  - Unexplained Infertility
  - Advanced Maternal Age
  - Male Factor Infertility
  - History of Chromosomally Abnormal Child or Pregnancy
  - Family history of structural chromosomal condition
  - Family history of X-linked disease
  - Inherited genetic disorders
  

• How PGD is performed
  - Oocyte aspiration
  - Fertilization and Embryo Culture
  - Polar body removal and/or blastomere biopsy
  - Preimplantation Genetic - Diagnosis in blastomeres
  - Embryo transfer and implantation
   

• Genetic diseases that can be diagnosed by PGD
   

• PGD in Italy: 1PB Testing
  - PGD on polar bodies
  - Preconception genetic diagnosis
  - Technical description of the procedure
  - Mutation analysis
  - Limitations
  - Advantages
  - Ethical issues