Carole A Samango-Sprouse1,2,3, Grace F Porter3, Patricia C Lasutschinkow3, Selena L Tran3, Teresa Sadeghin3, Andrea L Gropman4,5. 1. Department of Pediatrics, George Washington University, Washington, District of Columbia, USA. 2. Department of Human and Molecular Genetics, Florida International University, Miami, Florida, USA. 3. The Focus Foundation, Davidsonville, Maryland, USA. 4. Department of Neurology, George Washington University, Washington, District of Columbia. 5. Division of Neurogenetics and Developmental Pediatrics, Children's National Hospital, Washington, District of Columbia, USA.
Abstract
OBJECTIVE: To investigate the attitudes of parents of children with a sex chromosome aneuploidy (SCA) regarding the impact of an early diagnosis and noninvasive prenatal testing (NIPT). METHOD: A survey consisting of multiple choice and long response formatted questions was completed by parents of children with SCA(s). RESULTS: Fifty-five participants responded to the survey. A total of 88.1% of participants who received an early diagnosis expressed that it had a positive impact on their child's life. Of the 23 participants who utilized NIPT, 95.7% believed it was a decisive factor in their life because they could research the disorders prior to the birth of their child (35.3%), pinpoint valuable resources and interventions (38.2%), and determine possible risk factors of neurodevelopmental delays to be considered after delivery (20.6%). CONCLUSION: This study documented parental perspectives on the impact of an early SCA diagnosis and attitudes towards NIPT use for identifying those at risk for SCAs. These informative and insightful results provide personal experiences that health care providers may want to consider when providing prenatal counseling on NIPT for expectant mothers. As this analysis is the first of its kind, ascertainment is limited, and future research should aim to expand these findings by investigating the different factors influencing attitudes towards NIPT.
OBJECTIVE: To investigate the attitudes of parents of children with a sex chromosome aneuploidy (SCA) regarding the impact of an early diagnosis and noninvasive prenatal testing (NIPT). METHOD: A survey consisting of multiple choice and long response formatted questions was completed by parents of children with SCA(s). RESULTS: Fifty-five participants responded to the survey. A total of 88.1% of participants who received an early diagnosis expressed that it had a positive impact on their child's life. Of the 23 participants who utilized NIPT, 95.7% believed it was a decisive factor in their life because they could research the disorders prior to the birth of their child (35.3%), pinpoint valuable resources and interventions (38.2%), and determine possible risk factors of neurodevelopmental delays to be considered after delivery (20.6%). CONCLUSION: This study documented parental perspectives on the impact of an early SCA diagnosis and attitudes towards NIPT use for identifying those at risk for SCAs. These informative and insightful results provide personal experiences that health care providers may want to consider when providing prenatal counseling on NIPT for expectant mothers. As this analysis is the first of its kind, ascertainment is limited, and future research should aim to expand these findings by investigating the different factors influencing attitudes towards NIPT.
Authors: Talia Thompson; Susan Howell; Shanlee Davis; Rebecca Wilson; Jennifer Janusz; Richard Boada; Laura Pyle; Nicole Tartaglia Journal: Am J Med Genet C Semin Med Genet Date: 2020-05-25 Impact factor: 3.908
Authors: Ruth M Farrell; Madelyn Pierce; Christina Collart; Caitlin Craighead; Marissa Coleridge; Edward K Chien; Uma Perni; Richard Frankel; Angela Ranzini; Brownsyne Tucker Edmonds; Susannah S Rose Journal: Prenat Diagn Date: 2021-03-05 Impact factor: 3.242