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1. Introduction: Confronting the reality of NIPT positivity
NIPT (non‑invasive prenatal testing) analyzes fetal DNA in the maternal bloodstream to screen for the possibility of chromosomal abnormalities.
If the result is positive, many pregnant women and their families face strong anxiety.
“Does this result mean it’s certain?”
“Is there a risk of intellectual disability for the baby?”
“What should we do next?”
To confront such doubts and anxiety, correct medical knowledge and a calm response are essential.
2. A positive NIPT is not a definitive diagnosis
The first thing to understand is that NIPT positive ≠ fetal abnormality.
NIPT is a screening test
→ It estimates the likelihood of chromosomal anomaly but does not provide a definitive diagnosis.
There is a possibility of false positives
→ Due to maternal chromosomal mosaicism or influence from placental DNA, results may come out positive.
If you receive a positive result, confirmatory testing such as amniocentesis or chorionic villus sampling is required (recommended by the Japan Society of Obstetrics and Gynecology).
3. Main chromosomal abnormalities that tend to show positive on NIPT
The main chromosomal abnormalities that NIPT is prone to flag as positive include the following:
Trisomy 21 (Down syndrome)
Intellectual disability is often mild to moderate, and life expectancy has been increasing.
Trisomy 18 (Edwards syndrome)
Often accompanied by severe developmental disorders or congenital heart defects; many become critically ill soon after birth.
Trisomy 13 (Patau syndrome)
Often accompanied by severe intellectual disability and multiple malformations; prognosis tends to be poor.
Recently, some facilities screen for microdeletion/duplication syndromes, which may accompany mild‑to‑moderate intellectual disability or autism spectrum traits.
4. First steps in confronting the risk of intellectual disability
When NIPT is positive, what matters is to follow these steps:
- Consult with a physician or genetic counselor about the result
- Confirm the test’s accuracy, possibility of false positives, and next testing steps
- Decide whether to pursue a confirmatory diagnosis
- Amniocentesis is usually done after 15 weeks of pregnancy; miscarriage risk is about 0.1–0.3%
- Organize information and discuss with family
- Consider life, medical care, and support frameworks after birth
5. Psychological impact on the family after a positive result
A positive NIPT result can impose psychological burdens not only on the pregnant woman but on the entire family.
- Shock, anxiety, guilt
- Ambiguity about continuing the pregnancy or family planning
- Fear of social prejudice
These emotions are natural, and it is recommended to seek support from psychologists, genetic counselors, or family support groups.
6. Preparations with an eye toward postnatal life
If there is a risk of intellectual disability or congenital anomaly, it is reassuring to understand the support system before birth.
- Medical side: coordination with pediatrics and the neonatal intensive care unit (NICU)
- Therapeutic side: initiating early intervention (physical therapy, occupational therapy, speech therapy)
- Welfare side: utilization of medical expense subsidies, special day care for children with disabilities, and special support education
Pre-birth preparation is the best way to reduce chaos after delivery.
7. Degrees of intellectual disability and possible life outcomes
The degree of intellectual disability associated with chromosomal abnormalities varies widely.
- Mild: daily life is nearly independent, with some support needed in learning
- Moderate: support is needed in daily life, making use of special support education and welfare services
- Severe: requires medical care and lifelong support
In recent years, thanks to integration of medical and welfare systems, there are increasing cases of people with disabilities participating in society and working.
8. Importance of genetic counseling
In genetic counseling, you can receive the following support:
Introduction to postnatal medical and welfare systems
Genetic counseling is an indispensable process for reducing anxiety on a positive result and raising the family’s sense of understanding and acceptance.
Accurate interpretation of NIPT results
Determining the need for confirmatory diagnosis and organizing options
Psychological support for the family
9. Social and ethical perspectives
There are social and ethical issues in the spread of NIPT.
- The heavy decision of “to continue or not” brings psychological pressure
- Regional and economic disparities in access to testing
- Lack of societal understanding and support for disabilities
As testing technology advances, society as a whole must also strengthen understanding and support systems.
10. Future prospects
- Expansion of screening to whole chromosomes and microdeletion syndromes
- Use of next‑generation sequencers to improve accuracy
- Seamless integration between prenatal diagnosis and postnatal therapy
NIPT is evolving from a mere diagnostic tool to a starting point for preparing support from family and society.
11. Steps the family should take next
If NIPT yields a positive result, it’s recommended that the family calmly proceed as follows:
- Organize information
→ Sort out the meaning of test results, possibility of false positives, and next testing options
→ Take notes during physician explanation, and ask about anything unclear - Consider pursuing confirmatory diagnosis
→ Conduct amniocentesis or chorionic villus sampling to obtain a definitive diagnosis
→ This enables the family to make decisions on the basis of medical facts - Plan life with an eye toward postnatal life
→ Early understanding of medical, therapeutic, and welfare support systems can reduce confusion after birth
12. Support systems and social resources available in Japan
If the risk of chromosomal abnormality is known before birth, understanding social resources can bring great peace of mind.
- Medical expense subsidy systems
→ Subsidies such as for pediatric chronic specific diseases or medical costs for disabled children may be available - Therapeutic support
→ Introducing early intervention (physical, occupational, speech therapy) can encourage development - Day‑care facilities for children with disabilities and special support education
→ From preschool through elementary school, educational support by specialist staff is available - Use of family associations and patient groups
→ Sharing information with families who have similar experiences can provide psychological support
13. Importance of building medical collaboration before birth
If risk is known before birth, smooth collaboration with medical institutions is possible.
- Choose a birthing facility with NICU
- Consultation before birth with pediatrics, neonatology, and genetics departments
- Develop a postnatal continuous follow‑up plan
With this preparation, appropriate response can be made rapidly after birth.
14. Learning from overseas cases
In Western countries, support for pregnant women with NIPT positivity is fairly well established:
- Prenatal family education programs
→ Families can learn comprehensively about medical, therapeutic, and life support before birth - Societal acceptance and support of disability
→ Reducing prejudice in raising children with disabilities and achieving community support - Integration with genomic medicine
→ Mechanisms connecting to individualized postnatal treatments
In Japan, there is hope for establishing a system that provides both testing and support in a one‑stop fashion.
15. Conclusion: Calm response and proactive preparation can change the future
- A positive NIPT is not a definitive diagnosis — what matters is how you act next
- By organizing information with family and considering postnatal life planning, one achieves peace of mind
- If medical, therapeutic, and social resources are utilized, a fulfilling life is possible even with intellectual disability
- Gaining information before birth is at once a potential source of anxiety and an important step in protecting the family’s future
By calmly accepting the facts and steadily building support and preparation, life for the child and family can become more secure and positive.
References (Evidence)
Japan Society of Obstetrics and Gynecology: “Opinion on Prenatal Genetic Testing Using Maternal Blood”
Norton ME et al., New England Journal of Medicine, 2015; 372: 1589‑1597
Gregg AR et al., Genetics in Medicine, 2021; 23: 1238‑1245
Gil MM et al., Ultrasound in Obstetrics & Gynecology, 2017; 50: 302‑314
Wilson KL et al., Prenatal Diagnosis, 2021; 41: 661‑672
