Maternal Sex Chromosome Aneuploidy Identified through Noninvasive Prenatal Screening: Clinical Profile and Patient Experience

Abstract

Objective Noninvasive prenatal screening (NIPS) may incidentally identify maternal aneuploidies that have health implications. We evaluated patients' experience with counseling and follow-up diagnostic testing after NIPS flags a potential maternal sex chromosome aneuploidy (SCA).

Study Design Patients who underwent NIPS at two reference laboratories between 2012 and 2021 and had test results that were consistent with possible or probable maternal SCA were contacted with a link to an anonymous survey. Survey topics included demographics, health history, pregnancy history, counseling, and follow-up testing.

Results A total of 269 patients responded to the anonymous survey, and 83 of these individuals also completed one follow-up survey. Most received pretest counseling. A total of 80% were offered fetal genetic testing during the pregnancy, and 35% of patients completed diagnostic maternal testing. Monosomy X-related phenotypes such as short stature or hearing loss prompted follow-up testing that led to a diagnosis of monosomy X in 14 (6%) cases.

Conclusion Follow-up counseling and testing after a high-risk NIPS result suggestive of maternal SCA is heterogenous in this cohort and may be frequently incomplete. Health outcomes may be affected by these results and additional research could improve the provision, delivery, and quality of posttest counseling.

Key Points

• NIPS results showing potential SCA could have maternal health implications.

• Variations in counseling and testing after NIPS were observed for women with suspected SCA.

• Comprehensive counseling and diagnostic testing strategies are critical for these patients.

Keywords

NIPS - NIPT - maternal - sex chromosome aneuploidy

Ethical Approval and Patient Consent

Approval to conduct this human subjects research was obtained by the University of Texas Health Science Center McGovern Medical School Institutional Review Board (IRB no.: HSC-MS-21-0014). All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation. Informed consent was obtained from all patients for being included in the study.

Authors' Contributions

A.W.R. and S.K.P. confirm that they had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. All the authors gave final approval of this version to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. This manuscript was completed as part of the first author, A.W.R., Maternal Fetal Medicine fellowship training.

Publikationsverlauf

Eingereicht: 02. Mai 2023

Angenommen: 07. Juli 2023

Accepted Manuscript online:
11. Juli 2023

Artikel online veröffentlicht:
09. August 2023

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