Impact of early diagnosis and noninvasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs)

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.

Clinical Experience with Fetal Sex Chromosome Aneuploidy Identified by Non-Invasive Prenatal Testing in 45773 Cases

“…Recent studies demonstrated that early interventions such as postnatal hormone therapy, physical therapy and occupational therapy can have positive in uences on the behavioral phenotype or neurodevelopmental outcomes if applied earlier to SCA patients [11] . Prenatal screening and diagnosis of SCA can provide the opportunity for early intervention, postnatal comprehensive management and improve the quality of life of the affected child [12,26,27,28] . Sex chromosome abnormalities are more common than the major trisomies at birth and the neonates are often phenotypically normal [30] .…”

“…SCAs refer to conditions caused by numerical abnormalities in X and Y chromosomes, including Turner syndrome (45,X), triple X syndrome (47,XXX), Klinefelter syndrome (47,XXY) and 47,XYY syndrome (47,XYY) [1] . In general, SCA are usually experienced with infertility, short or tall stature, behavioral problems, mental disorder and developmental delay in intelligence and sexual [1,12] . However, the phenotype of patients span a large range of associated symptoms that vary in severity depending on the timing of diagnosis and types of SCA [6,7,8,9,10,11] .…”

“…However, the phenotype of patients span a large range of associated symptoms that vary in severity depending on the timing of diagnosis and types of SCA [6,7,8,9,10,11] . The incidence of SCA is estimated to be 1 in every 500 live births and about 75-90% cases are undiagnosed during their lifetime [12] . Despite having a combined prevalence greater than T21, SCA testing have not been included in prenatal screening programs, due to the frequently mild phenotype and coupled with uncertainty over the bene ts of early treatments [13] .…”

Non-invasive Prenatal Testing for Assessing Fetal Sex Chromosome Aneuploidy: A Retrospective Study of 45773 Cases

“…Recent studies have demonstrated that early interventions such as postnatal hormone therapy, physical therapy, and occupational therapy could have positive effects on the behavioral phenotype or neurodevelopmental outcomes if applied earlier to SCA patients [9,29] . Prenatal screening and diagnosis of SCA can provide the opportunity for early intervention, comprehensive postnatal management, and improve the quality of life of the affected child [10] . Sex chromosome abnormalities are more common than the major trisomies at birth, and the neonates are often phenotypically normal [30] .…”

“…The frequency of SCA is estimated to be 1 in every 500 live births. About 75-90% of cases are undiagnosed during their lifetime [10] . Recently, studies reported that postnatal hormone therapy could have positive effects on behavioral phenotype if applied earlier to SCA patients.…”