What happens when N = 1 and you want plus 1?. (30th December 2016)

• Record Type: Journal Article
• Authors: Might, Matthew; Might, Cristina Casanova
• Other Names: Ghidini Alessandro guestEditor.; Bianchi Diana W. guestEditor.
• Is Part Of: Prenatal diagnosis. Volume 37:Number 1(2017)
• Page Start: 70
• Page End: 72
• Publication Date: 2016-12-30
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4975
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: We present a personal case study of what happens when a family has a child with an undiagnosed genetic disorder yet wishes to have more children free of the disease. After an intractable diagnostic odyssey for our oldest son, our family turned to exome sequencing. Exome sequencing found likely pathogenic variants of uncertain significance in the gene NGLY1 . We used social media to uncover more cases for the newly discovered disorder and confirm the diagnosis in the process. With a diagnosis, we then explored and experienced a broad range of options for conceiving a child free of the disorder. Our success in having another child free of the disorder created a pathway for other families in our newly discovered disease community to do the same. © 2016 John Wiley & Sons, Ltd.