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Thursday, January 4, 2018

Non-disclosing preimplantation genetic diagnosis: Questions, challenges and needs for guidelines

Robert Klitzman
Fertility and Sterility
Originally published December 6, 2017

Consider This:

Non-disclosing Preimplantation Genetic Diagnosis (ND-PGD) is performed, but controversial, raising many questions.  It has been used when prospective parents at-risk for mutations highly associated with serious disease (especially Huntington’s disease [HD](1)), do not want to know their mutation-status, but wish to ensure that no mutation-containing embryos are transferred.  Physicians would then transfer only mutation-negative embryos, and not tell the patient whether any mutation-positive embryos were identified.  In 2002, Stern et al. described using ND-PGD successfully with 10 couples.1 

Pros and cons of non-disclosing PGD

Several advantages and disadvantages have been articulated.  Few individuals at-risk for HD want to learn their mutation-status.  Caused by an autosomal dominant mutation, the disease lacks treatment, and leads to debilitating neurological and psychiatric symptoms and death, generally in the 4th-5th decade of life.  Many at-risk individuals see a mutation-positive test result as a “death sentence,” and only 3%-21% of at-risk adults get tested (e.g. only 3-5% in Sweden).(2)

Though the patient may not be infertile, ND-PGD requires IVF, which has certain risks.  Yet many patients may see the procedure’s benefits as outweighing these dangers.  Misdiagnoses can also occur, but prenatal confirmatory tests can be performed.

The article is here.
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