Women who chose to undergo NIPT often reported that they were highly satisfied with their decision and felt well informed. However, there is a need to continue to assess how women access and understand information about NIPT and how they receive prenatal counselling in order to ensure informed and autonomous decisions.
Non Invasive Prenatal Testing and Reproductive Planning
As NIPT becomes more widely available, it is important for clinicians to be well-versed in providing accurate and understandable information about the test. Qualitative research has shown that women desire and require access to high quality information about NIPT to make autonomous decisions. This knowledge is crucial to promoting reproductive autonomy, which is one of the core principles of informed choice.
NIPT is a non-invasive test that uses a sample of the mother’s blood to look for signs of chromosomal abnormalities in her baby. It can detect Edward syndrome (duplication of the X and Y chromosomes), Patau syndrome (trisomy 13), and Down syndrome (trisomy 21). If a positive result is detected, a more invasive diagnostic test, such as amniocentesis or CVS, may be needed to confirm the finding.
Genetic Abnormality Detection in Reproductive Planning
NIPT does not imply any physical risk to pregnant women, unlike diagnostic tests such as amniocentesis and chronic villus sampling (CVS). It uses cell-free DNA (cfDNA) extracted from the maternal blood sample to detect aneuploidy by counting chromosomes.
The test is a good option for high-risk pregnancies and those with contraindications to invasive procedures. However, the results are not 100% accurate.
Participants highlighted that if NIPT becomes routinised and offered as a normal pregnancy test, it could further undermine reproductive autonomy, increase the risk of social stigma towards people with disabilities and lead to inappropriate use of the tests. In order to avoid this, professionals emphasised that counselling should not only explain the technical details of NIPT and correct misunderstandings about disability and testing, but also explore women’s attitudes towards NIPT and their intention to have children with disabilities.
Role of NIPT in Family Planning
NIPT is a screening test, and not a diagnostic tool. If a woman’s NIPT results show a high risk of an abnormality, her OB-GYN or midwife might recommend more invasive diagnostic genetic tests, such as chorionic villus sampling (CVS) or amniocentesis. These involve drawing a small sample from the placenta, and carry a slight risk of miscarriage.
Some respondents thought that pre-test counselling for NIPT xet nghiem nipt o ha noi needs to be improved: it is important for women to have access to this information, but they may not always make informed choices based on the information provided. Expanding the scope of NIPT to include more conditions will require more out-of-pocket expenses, which could disproportionally affect low-income women.
Respondents were also concerned that NIPT might lead to the birth of more children with Down syndrome, Edwards’ syndrome and Patau’s syndrome. They believed that this would increase the costs of caring for these children, as well as their need for special education and support services.
Ethical Considerations in Prenatal Decision Making
Several ethical issues arise when offering NIPT to women in public health systems. Participants in our study were generally opposed to a policy that would prioritize access to NIPT for certain conditions, arguing that determining which reproductive outcomes are ‘worth living’ should be left to the discretion of individual couples and not based on a priori assessments of how serious each disorder is.
The blood of a pregnant woman carries bits of DNA from her fetus, known as cell-free fetal DNA (cffDNA). A NIPT test analyzes this cffDNA to determine the presence or absence of specific genetic conditions such as Down syndrome and other chromosomal disorders. Our participants worried that the testing process could create a perception of pressure to test, due to concerns about industry influence in informational materials and incentives for health care providers to promote NIPT.
Access and Cost of NIPT in Reproductive Planning
NIPT costs more than most screening tests and it is not covered by Medicare or private health insurance in Australia. It is recommended that women discuss their options with a genetic counsellor before deciding whether to take the test.
The DNA for a developing pregnancy circulates in the mother’s bloodstream and scientists can detect it using a simple laboratory test. This is known as cell-free fetal DNA (cffDNA). NIPT requires only a small sample of maternal blood, which does not put the woman at any risk.
Qualitative interviews with women conducted by Van der Meij and colleagues indicate that most of those who chose NIPT did so because it offered reassurance and further information about their pregnancy. However, many women who declined the test did so because they felt no moral responsibility to take it.