Introduction:
Sex chromosome aneuploidies (SCA) are the most common chromosomal abnormalities, occurring in ~1:400 livebirths. Prenatal diagnosis of SCA is increasing rapidly due to increased use of cfDNA screening during pregnancy. While prenatal diagnosis of SCA can be advantageous by enabling parents to proactively monitor for challenges related to SCA, it can also contribute to parental stress, particularly if genetic counseling at screening and/or diagnosis is insufficient. This project aimed to illustrate the emotional experiences and coping strategies of parents raising a child with prenatally diagnosed SCA at various timepoints to guide genetic counseling practices in SCA. 

Methods:
A cross-sectional survey on parental experiences and coping mechanisms at SCA screening, SCA diagnosis, and at the time of survey completion was administered to the parents of participants in the eXtraordinarY Babies Study, a natural history study involving over 360 children prenatally identified with SCA. Survey respondents were categorized as prenatally confirmed if diagnostic testing was done before birth (through amniocentesis/CVS) and as postnatally confirmed if diagnostic testing was done after birth. Participants reported how worried, hopeful, and well-informed they felt using ordinal scales ranging from 0 to 100. Participants rated various coping strategies using Likert scales ranging from not helpful (1) to very helpful (4). Survey summaries are presented as median [IQR] or mean ± SD with differences between prenatal and postnatal groups made with Wilcoxon rank-sum tests. Statistical analysis was performed in R, version 4.4.0. A type 1 error rate of 0.05 is assumed.  

Results:
The survey response rate at time of data analysis was 48.9% (n=179), including XXY (n=88), XXX (n=47), XYY (n=35), and XXYY (n=9). The median child age at survey completion was 3.98 years [2.25, 5.24]. Parents reported high worry scores (91.50 [80, 100]) and low well-informed scores (1 [0, 17]) and hope scores (35 [20, 50]) at screening. Between screening and confirmatory diagnosis, worry scores decreased (75 [50, 96], p<0.001) while well-informed scores (59 [20, 80], p<0.001) and hope scores (50 [30, 76], p<0.001) increased. Between confirmatory diagnosis and survey completion, worry scores decreased (29.5 [15, 59.5], p<0.001) while hope scores increased (90 [80, 100], p<0.001). Of the participants surveyed, 80 (44.7%) had diagnostic confirmation prenatally, while 99 (55.3%) received confirmation postnatally. Both groups reported similar low well-informed scores (p=0.869) at screening; however, at both screening and diagnostic confirmations the prenatally confirmed group had higher worry scores (p=0.011 and p=0.017, respectively) and lower hope scores (p<0.001 and p<0.001, respectively). Both groups reported similar worry scores (p=0.593) and hope scores (p=0.746) at survey completion.  



The most widely used coping strategies at screening and diagnosis were “doing my own research” (used by 98.9% of respondents at screening) and “talking to my doctor” (97.8%). The most helpful coping strategies at screening and diagnosis were “connecting with professionals familiar with the condition” (3.28 ± 0.86 at screening) and “connecting with parents of children with the condition/other conditions” (3.16 ± 0.87). 38 participants (21.2%) described “doing my own research” as harmful due to misinformation online, while 35 (19.6%) described “talking to my doctor” as harmful, citing termination-focused discussions and poor knowledge about SCA. 

Conclusion:
These data suggest that parents experience high levels of worry and low levels of hope at the time of positive SCA screening and diagnosis. However, the decrease in worry scores and increase in hope scores over time reflect evolving parental emotions. Although parents use a variety of coping strategies, many common strategies were reported to be unhelpful or even harmful. Though not widely used, strategies that involved connecting with the SCA community were helpful. Future research will involve using these data for purposeful sampling for explanatory interviews to inform genetic counseling.