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Focus on prenatal diagnosis at the 2006 JSF meetingDr. Ian Glass from the University of Washington (UW) in Seattle presented an overview of prenatal diagnosis and reproductive options for couples who have had a child with Joubert syndrome (JS). The purpose of prenatal diagnosis is to provide information to couples so that they can make informed reproductive decisions ranging from termination of an affected fetus to preparation for the birth of an affected child. Couples who have had a child with JS have a one in four (25%) chance of having another affected child with each and every pregnancy. Currently, there is no definitive test to diagnose JS before birth; however, prenatal ultrasound and MRI hold the most promise in the short term. Advances in the genetics of JS may allow for DNA-based testing in the future. Of note, three genes associated with JS have been identified. Dr. Glass summarized the broad variety of reproductive options available for couples. Based on current experience with at-risk pregnancies, they proposed initial guidelines for monitoring at risk pregnancies. Our group's experience with this approach has been published in the medical literature (Doherty et al., 2005).Genetic testing should be strongly considered, especially if the first affected child has already tested positive. It is important that the imaging studies be reviewed by a physician experienced in the diagnosis of posterior fossa malformations, and that couples receive genetic counseling. Drs. Glass and Doherty would be happy to help couples to obtain optimal information, and they are interested in reviewing prenatal imaging studies from all pregnancies of couples who have had an affected fetus or child. The systematic comparison of prenatal imaging from affected and unaffected pregnancies will improve understanding of the early events in JS, and will improve the quality of prenatal diagnosis in the future. Interested families should contact Drs. Glass and Doherty through Dana Knutzen, UW Joubert Syndrome Center genetic counselor. The slides from the prenatal diagnosis talk can be downloaded here. Warning! This is a 4.7 Mb file. Melissa A. Parisi MD, PhD Doherty, D., Glass, I. A., Siebert, J. R., Parisi, M. A., Shaw, D. W. W., Chance, P. F., Barr, M., and Nyberg, D. 2005. Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenatal Diagnosis, 25:442-7.
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