Can NIPT Detect Intellectual Disabilities? Common Misconceptions and the Truth

1. Introduction: Misconceptions Surrounding NIPT and Intellectual Disabilities

NIPT (Non-Invasive Prenatal Testing) is a blood test that analyzes fetal DNA in the mother’s blood to assess risks of chromosomal abnormalities.
In Japan, the number of facilities offering NIPT has been growing, and many expectant mothers now consider this option.

However, on the internet and social media, misconceptions are common, such as:

• “NIPT can determine whether a baby will have an intellectual disability.”
• “A negative result guarantees peace of mind for the future.”

In reality, NIPT does not diagnose intellectual disabilities themselves.
This article addresses these misconceptions and provides accurate knowledge to help families prepare.

2. Causes of Intellectual Disabilities Are Diverse

Intellectual disability is defined as an IQ below 70, accompanied by significant limitations in daily living skills, with onset before age 18.
The causes are varied, and it is difficult to predict all of them before birth.

Major causes include:

• Chromosomal abnormalities
   Trisomy 21 (Down syndrome)
   Trisomy 18, Trisomy 13
   Microdeletions/duplications (e.g., 22q11.2 deletion syndrome)
• Single-gene mutations
   Fragile X syndrome
• Perinatal environmental factors
   Intrauterine infections, hypoxia, preterm complications
• Postnatal factors
   Severe infections, trauma, metabolic disorders

Among these, NIPT can only identify risks associated with certain chromosomal abnormalities.

3. What NIPT Can and Cannot Detect

(1) What it can detect

• Major trisomies:
   Trisomy 21 (Down syndrome)
   Trisomy 18
   Trisomy 13
• Depending on the facility:
   Microdeletion syndromes (e.g., 22q11.2 deletion syndrome)
   Sex chromosome abnormalities (e.g., Turner syndrome)

These conditions are often associated with a higher risk of intellectual disability.
However, NIPT is a screening test, and a positive result requires confirmation by amniocentesis or chorionic villus sampling.

(2) What it cannot detect

• Intellectual disabilities caused by single-gene mutations
• Acquired brain injuries after birth
• Most developmental disorders (e.g., autism spectrum disorder, ADHD)

4. Common Misconceptions and the Facts

• Misconception 1: “NIPT can determine intellectual disability.”
   → Fact: It can only identify risks of specific chromosomal abnormalities.
   Even with a negative NIPT result, intellectual disability may still occur due to genetic mutations or perinatal factors.
• Misconception 2: “A negative result guarantees safety.”
   → Fact: False negatives, though rare, are possible. Maternal DNA or placental mosaicism may affect accuracy.
   If abnormalities are suspected, detailed ultrasound or amniocentesis is recommended.
• Misconception 3: “A positive result means the child will definitely have an intellectual disability.”
   → Fact: Expression varies widely. Some with microdeletions or sex chromosome abnormalities may have mild or even normal intelligence.
   Genetic counseling is essential to interpret results correctly.

5. Things to Consider Before Testing

Deciding whether to undergo NIPT should balance medical, psychological, and ethical perspectives.

Medical:

• Enables early detection of conditions requiring immediate care after birth
• Helps prepare perinatal care teams

Psychological:

• Provides time for families to prepare mentally
• However, results may also increase anxiety

Ethical:

• Results may raise decisions about pregnancy continuation
• Broader societal understanding of disabilities is necessary

6. The Importance of Genetic Counseling

Before and after NIPT, professional genetic counseling is recommended:

• To understand accuracy and limitations
• To clarify next steps for both positive and negative results
• To support families in making informed decisions

7. Family Preparation and Social Support

If there is a risk of intellectual or developmental disability, preparation before birth enhances family quality of life.

Medical:

• Coordinate with hospitals equipped with NICUs
• Seek early intervention consultations after birth

Psychological:

• Connect with family support groups and patient associations
• Consult psychologists or social workers

Social systems:

• Eligibility for rehabilitation handbooks, child disability allowances
• Access to early intervention services and after-school support programs

8. Correct Understanding Brings Peace of Mind

• NIPT does not diagnose intellectual disability
• It only identifies certain chromosomal abnormalities
• Combining genetic counseling with social support enables safer childbirth and parenting

Prenatal testing is not the goal, but rather the first step in preparing for the family’s future.

9. Next Steps After Receiving Results

(1) If negative:

• Provides reassurance, but not 100% certainty
• Continue ultrasound and prenatal screenings
• Monitor child’s development and health postnatally

(2) If positive:

• Confirm with amniocentesis or CVS
• Seek counseling to reduce stress during the waiting period
• Coordinate with perinatal care teams for postnatal support

(3) If inconclusive or “no-call”:

• May be due to low fetal fraction or technical issues
• Consider repeat testing or diagnostic testing

10. Key Points Families Should Discuss

How to manage the anxiety from testing?
 Share emotions within the family and avoid isolation
 Use counseling or family support groups if needed

What is the purpose of testing?
 Peace of mind, or preparation for birth and parenting?

How will the family respond if results are positive?
 If continuing pregnancy → prepare for medical and social support
 If considering termination → seek ethical and psychological support

11. Maximizing Social Support

For families raising children at risk of intellectual or developmental disabilities, early access to support systems is critical.

Medical:

• Collaboration with NICUs and pediatric specialists
• Early developmental assessments and intervention

Government support:

• Disability handbooks, child disability allowances, welfare benefits
• Medical expense subsidies (public healthcare support for children)
• Early intervention and after-school support programs

Family and psychological support:

• Participate in family associations or patient groups
• Counseling with social workers and psychologists
• Respite care to relieve childcare burden

12. Ethical and Social Considerations

As NIPT becomes widespread, it also raises broader societal questions:

• Selective abortion debates
   Severity of disabilities is hard to predict, creating ethical dilemmas
• Social stigma against disabilities
   Testing should not promote the idea of a “disability-free society”
• Equity in access
   Address disparities between urban and rural areas in access to testing

Thus, NIPT should be used as a tool to improve family quality of life and peace of mind, while being mindful of ethics.

13. Conclusion: Correct Understanding Protects the Future

• NIPT does not diagnose intellectual disability itself
• It only identifies some chromosomal abnormalities, not genetic mutations or perinatal causes
• Families should approach testing with medical, psychological, and ethical perspectives
• Genetic counseling and social support systems are essential for safe pregnancy, childbirth, and parenting