Finding out the “gender” sooner: Ethical tensions and parental motivation in discovering fetal sex and chromosomal anomaly risk using noninvasive prenatal testing (NIPT)

Abstract

Noninvasive prenatal testing (NIPT) has rapidly expanded in both utilization and scope since it became available in 2011. While NIPT screens for a limited number of chromosomal anomalies, it has become colloquially known as the “gender” test because of the ability to determine sex chromosome information. Yet users often report being less interested in learning about fetal risk for sex chromosome anomalies (SCAs). To date, most research with NIPT users has focused on those who receive “high risk” or “positive” results. Yet most NIPT users will receive “low risk” results. This is significant because NIPT continues to grow in popularity. To better understand how NIPT “test-negative” users report testing motivations, we analyzed semi-structured interviews with 37 NIPT users using constructivist grounded theory. Participants reported two motivations in using NIPT: 1) learning fetal sex information and 2) gaining “peace of mind” in confirming low risk of chromosomal anomaly, or disability. However, these motivations were also in tension with each other as users described gaining fetal sex information as a valued benefit that offset any anxiety or fear they experienced from participating in NIPT. These findings have implications for ongoing ethical debates over the role of fetal sex determination in NIPT and suggest that NIPT may also raise more subtle ethical challenges including the reinforcement of sex and gender binaries and the foreclosure of disability as familial possibility, revealing how epistemic shortcuts are at play within NIPT.

Keywords

• Prenatal testing
• Cell-free DNA
• Reproductive decision-making
• Disability
• Providers