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STATE-OF-THE-ART REVIEW ARTICLES: Donald B. Bailey, Jr, Debra Skinner, Arlene M. Davis, Ian Whitmarsh, and Cynthia Powell Ethical, Legal, and Social Concerns About Expanded Newborn Screening: Fragile X Syndrome as a Prototype for Emerging Issues Pediatrics 2008; 121: e693-e704 [Abstract] [Full text] [PDF]

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Fragile X screening

Joel Zlotogora   (12 March 2008)

Fragile X screening 12 March 2008
Joel Zlotogora, Director, Department of community Genetics. Public Health services, Ministry of Health. Hadassah Hebrew Medical school, Israel Send letter to journal: Re: Fragile X screening zlotogora{at}gmail.com Joel Zlotogora	In their review Bailey et al, describe and discuss several ethical, legal, and social concerns about new born screening for fragile X and conclude with recommendations on how these concerns could be addressed. For most genetic diseases couples at risk are discovered after the birth of an affected child and in many cases newborn screening is the only way to discover an asymptomatic affected individual. For instance in the case of phenyl ketonuria (PKU) in most of the populations, the multitude and rarity of the mutations that are responsible for the disease make the discovery of couples at risk before the birth of a first affected child not feasible. Therefore, newborn screening allowing the early discovery of the affected asymptomatic child is the best possible way for diagnosis and early treatment. In disorders such as fragile X syndrome in which there is a single type of mutation in all the populations there is a possibility to detect couple at risk before the birth of an affected child. Since affected children are born only to carrier women, the detection of these women will allow determining who the couples at risk are. Detection of couples at risk before the birth of an affected child has several advantages and will give a solution to most of the ethical, legal, and social concerns raised by the newborn screening presented in the review. First and most importantly, this type of screening gives the couple the possibility of choice before the birth of an affected child. After appropriate genetic counseling the woman may decide with her partner either to be tested or not. If she decides to be tested and found to be a carrier, then she may decide either to have or not prenatal diagnosis. If the couple decided against prenatal diagnosis then they after the birth of the child they will have the option, either to have or not a test of the newborn. Another advantage of this kind of screening is that the test needs to be done only once since women who are not carriers are not at risk in any of their pregnancies and their children do not need to be tested. In the discussions about the possibility to propose newborn screening for diseases that are not amenable to treatment is that it allows discovering couples at risk before the birth of a second affected child. However, why shouldn’t the parents be allowed to have this choice already before the birth of the first affected child? Only by offering fragile X screening to women either before a pregnancy or at the beginning of the pregnancy, they will have a true choice: either to continue or not the pregnancy and to test or not the child after birth. If the screening is done according to the rules and the carrier women receive appropriate genetic counseling then it may be expected that a truly informed choice of the parents will be available to the couple. In conclusion, in the case of fragile X syndrome, the debate should be about population screening programs for fragile X of healthy women and not about newborn screening. Conflict of Interest: None declared