Chromosomal microarray analysis (CMA), initially used in post-natal settings for individuals with developmental disabilities or congenital anomalies, has been increasingly applied in prenatal diagnosis to test the unborn over the past decade. Also known as “molecular karyotyping,” it offers a detailed examination of chromosome structure and copy number variations (CNVs) that might go unnoticed with conventional karyotyping. In everyday prenatal testing settings in China, it is also frequently referred to as “gene chip” testing. While providing higher detection rates for genetic abnormalities, the use of this kind of advanced genomic diagnostic test also increases the frequency of identifying variants with ambiguous meanings, whose relevance for assessing health conditions remains uncertain. In China, CMA is deployed in a prenatal care system characterised by high patient volumes and intense clinical pressures. The frequent emergence of clinically ambiguous results creates interpreti...
Ambiguous Variants: Women’s Uncertain Journey of Prenatal Genetic Testing in Shanghai, China
Abstract
This article depicts women’s uncertain journeys through prenatal testing in the context of routinised use of an advanced genomic testing technology, the chromosomal microarray analysis (CMA), at a prenatal diagnosis centre in Shanghai, China. This article shows how the integration of advanced genomic medicine with prenatal testing has added layers of complexity and uncertainty to the evolving landscape of Chinese women’s encounters with reproductive technologies. While selective reproductive technologies in China have continued to be framed by population quality control within the legacy of the One-child policy, this study suggests that ambiguity and uncertainty increasingly characterise women’s reproductive choices and visions of their reproductive futures during their prenatal genetic testing journeys. This parallels China’s ambiguous transition towards a pronatalist population planning agenda, and the uncertainties faced by healthcare institutions and professionals in managing dilemmas associated with routine use of advanced genomic technologies.
Index terms
Index by keyword:
prenatal genetic testing, prenatal diagnosis, uncertainty, ambiguity, chromosome microarray analysis (CMA), urban ChinaEditor’s notes
Manuscript received on 21 March 2025. Accepted on 12 December 2025.
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Full text document will be published online on June 2027.
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Bibliographical reference
Binjuan Liu, Xiaoqiong Chen, Dong Dong and Jianfeng Zhu, “Ambiguous Variants: Women’s Uncertain Journey of Prenatal Genetic Testing in Shanghai, China”, China Perspectives, 145 | 2026, 65-75.
Electronic reference
Binjuan Liu, Xiaoqiong Chen, Dong Dong and Jianfeng Zhu, “Ambiguous Variants: Women’s Uncertain Journey of Prenatal Genetic Testing in Shanghai, China”, China Perspectives [Online], 145 | 2026, Online since 01 June 2027, connection on 14 July 2026. URL: http://journals.openedition.org/chinaperspectives/20767; DOI: https://doi.org/10.4000/16hk4
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