| Letter
to the Editor
OB/GYN October 2004
PreImplantation
Genetic Diagnosis
To the Editor:
I am writing in response to the cover/CME article in your August 2004 edition entitled "Population- based Preconception and Prenatal Cystic Fibrosis Carrier Screening: Clinical Implementation Challenges." As a board certified reproductive endocrinologist, I feel it is important for readers of this article to realize an important omission.
It is now possible to essentially eliminate the risk of cystic fibrosis (CF) with preimplantation genetic diagnosis. Couples in whom both partners are a carrier for a CF genetic mutation should be offered this option. Preimplantation genetic diagnosis (PGD) involves in vitro fertilization followed by embryo biopsy. Transfer of embryos non-homozygous for the CF genetic mutation can then be accomplished.
Providers and patients alike often express disinterest in CF screening, as they erroneously feel that there is no truly effective prevention. With PGD, prevention is a reality.
Laparoscopic gastric banding will continue to be an important treatment
in the management of obesity. It should be viewed as one of the best
surgical options to be used along with "life-style changes," and
not viewed as an alternative stand-alone therapy.
Celeste Brabec, MD
Overland Park, Kan
The Authors Respond
Dr Brabec's letter highlights the important reproductive option of preimplantation genetic diagnosis (PGD). This option was included in the first paragraph under benefits and risks of carrier screening, as follows:
The goal of population-based carrier screening for any autosomal recessive condition is to identify couples who could have an affected child, so that genetic counseling--including discussion of reproductive options—can be provided. Reproductive options for couples found to be at high risk (one in four) include preimplantation genetic diagnosis, adoption, use of an egg or sperm donor, and proceeding with pregnancy with or without utilizing prenatal diagnosis. Once identified, these targeted interventions can lead to disease prevention ....
The focus of the article was not PGD, although it was duly noted. In order to provide a fair assessment of this option for the reader, perhaps a separate article focusing on both the benefits and risks of this reproductive option is warranted.
I hope this letter clarifies the
contents of our article previously published.
Amber Anne Nolen, MS, CGC
Edd D. Rhoades, MD, MPH
Oklahoma City, Okla
back to top
|
