Neonatal Screening for CF


A parent said: I just can’t stop thinking about how with early knowledge of the diagnosis my wife and I would have understood why this and why that, and that our energies could have been directed appropriately. Receipt of proper guided medical care, fewer wakeless nights, fewer smelly diapers, fewer belly aches, fewer crazed 5 bowl Rice Krispies breakfasts, and less frustration for parents and siblings are just a few of the things which come to mind.

A response: Let me preface all by saying that I support reproductive choice.

First of all, genetic screening for CF is actually a new precedent for screening. Never has a disease with such diversity of outcome been screened for before. Some people with CF die relatively young, others make it to the median age, and a few succeed into their forties, fifities, sixties, and, yes, even seventies. Some people with CF have daily constant reminders of CF, others have one or two exacerbations and otherwise a mild disease course for years. I emphasize the great variety of possible CF cases.

Secondly, the genetic screening test is not 100%. Carriers and those with CF will be missed and this will cause problems further down the road.

Thirdly, the genetic screening test will identify that subpopulation of CBAVD males (and women with the same mutations) who have no symptoms of CF apart from infertility as having CF and, therefore, this subpopulation may be aborted.

Fourthly, I seriously doubt that the level of counseling and instruction about CF and genetics will be adequate for couples to make informed reproductive choice. There is a severe shortage of genetic counselors in the USA first of all, and information about CF varies greatly dependent upon whom is producing it. For instance, charitable organizations tend to paint a grim picture of CF in order to increase donation revenues.

Fifthly, the NIH did not recommend neonatal screening for CF because of the “limited information, limited health benefits and cost associated with screening”. I do disagree in part with this decision. I think it is beneficial for a couple to know in advance that the child has CF. For some this might include the option of reproductive choice. For others have stated knowledge is power and enhances the quality of your lives as well as the affected baby by being prepared for CF. Medically speaking, the literature, according to the NIH meeting states there is none or little benefit in diagnosing CF neonatally. However, I can see how early intervention with pancreatic enzymes will definitely help a baby survive the infant years. I also agree with your observation that knowing a child is to have CF, you or the prospective parents will better prepare by inquiring about CF, learning more, picking and choosing a good CF clinic and doctor, making sound employment and insurance decisions as well as other financial considerations.

Also: The National Institute for Health (in the USA) has a site on the Internet that details all of its “consensus” statements, which are the results of discussions about controversial medical issues, such as “genetic testing for cystic fibrosis”. You can find this site at: Choose “What’s New” and then “Genetic test in CF” (it is long, so you may want to find it on the Internet and then “save as..” so you can reprint it in a wordprocessing environment.