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The eXtraordinarY Babies Study: Evolving Parental Perspectives and Priorities While Raising a Child Prenatally Diagnosed with Sex Chromosome Trisomy   

Clinical Genetics and Therapeutics
  • Primary Categories:
    • Clinical- Pediatric
  • Secondary Categories:
    • Clinical- Pediatric
Introduction:
Historically underdiagnosed, infants with sex chromosome trisomies (SCTs) are increasingly being identified through routine prenatal cell-free DNA screening. While numerous studies have investigated varying aspects of parental experiences associated with SCT diagnoses, research describing the perspectives and priorities (P&P) of parents at various stages of childrearing is limited. This study aimed to identify P&P of parents raising a child with prenatally identified SCT (piSCT) at various stages of childhood (birth to 8yo). 

 

Methods:
The eXtraordinarY Babies Study (NIH/R01HD091251) is a natural history study of 366 children with piSCT, and this sub-study analyzed a cross-sectional survey on parental experiences including P&P. Respondents were categorized by the child’s SCT diagnosis, diagnostic timing (confirmed before or after birth), and child’s age at time of survey completion. Age cohorts were grouped as “Early Childhood” (<3 years), “Preschool” (3-5 years) and “School Age” (6+ years). Respondents answered (yes/no) whether they would have sought genetic testing for their child in the absence of prenatal SCT identification and answered “why?” with open-ended responses that were thematically analyzed and relationally grouped. Respondents ranked the current importance of 13 topics using an ordinal scale (1-100), including 5 health topics, 6 neurodevelopmental topics, and 2 disclosure topics. Results were analyzed with descriptive statistics (mean, median [IQR], proportions).

 

Results:
195 surveys were completed (53.3%), mostly by mothers (92.8%). Almost all (98.5%) children were initially identified by prenatal cfDNA screening. Approximately half (52.1%) of diagnoses after cfDNA were deferred to postnatal cytogenetic confirmation. Karyotypes included 47,XXY (n=100, 51.3%), 47,XXX (n=57, 29.2%), 47,XYY (n=38, 19.5%). Median child age at survey completion was 3.7 years [1.9, 4.9], with cohorts of Early Childhood (n=69, 35.4%), Preschool (n=96, 49.2%) and School age (n=30, 15.4%). While more than a third (35.1%) of respondents reported the child’s history to include at least one developmental delay, medical problem, or physical difference associated with SCT, only 23.9% of these respondents reported they would have advocated for genetic testing without a known SCT diagnosis, mostly (68.7%) based on a history of global delays and/or complex medical problems. Of the 13 ranked priority categories, only 6 categories were consistently highly prioritized: “DM”= Developmental milestones (language, motor, cognitive), “L/S”= Learning and/or school, “MH”= Mental health (anxiety, depression, other), “A/F”= Attention and Focus, “B”=Behavior, and “SS”= social skills (friendships and/or risk for autism).

 

Current top 3 priorities (highest mean ratings):

By SCT:

XXY: 1. L/S, 73.6       2. DM, 64.8     3. A/F, 58.7

XYY: 1. DM, 79.6      2. L/S, 68.8     3. B, 57.8

XXX: 1. DM, 76.0      2. L/S, 73.3     3. MH, 60.6

 

By Age Cohort:

<3yo:   1. DM, 83.3     2. L/S, 66.7     3. SS, 57.8

3-5yo: 1. L/S, 75.9     2. DM, 67.7     3. B, 59.2  

6+yo:   1. L/S, 75.8     2. A/F, 68.6     3. MH, 56.8

 

Conclusion:
While there are small differences by SCT type and age cohort, parents of children with piSCT consistently rate neurodevelopmental and psychological features as higher priorities than medical or physical features of SCT. These results can guide genetic counselors and medical providers caring for these families. This initial data will be utilized for purposeful sampling for one-on-one interviews to help understand why and how parental priorities evolve to best inform genetic counseling and pediatric care. Future directions include expanding data in the 6+yo cohort, and prospective surveys to evaluate evolution of parental P&P as children reach late childhood and adolescence. 

 

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