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1. Introduction: How Small Changes Can Have a Big Impact
During pregnancy, parents are most concerned about their baby’s health.
Even when no “major abnormalities” are found, subtle chromosomal changes may still cause significant effects later in life.
In recent years, NIPT (Non-Invasive Prenatal Testing) has made it possible to detect some microchromosomal abnormalities (such as microdeletions and microduplications) that traditional ultrasound or maternal serum screening could not reveal.
This article explains what “invisible risks” mean, what NIPT can and cannot detect, and the essential knowledge families need to prepare.
2. What Are “Invisible Risks”?
“Invisible risks” refer to abnormalities that are hard to identify through standard prenatal tests.
(1) Microchromosomal Abnormalities
- Partial chromosomal deletions (Microdeletions)
- Partial chromosomal duplications (Microduplications)
For example, 22q11.2 Deletion Syndrome (DiGeorge Syndrome) is caused by a tiny chromosomal deletion.
It occurs in about 1 in 4,000 births and may result in congenital heart disease, immune deficiencies, and developmental delays.
Another example is 1p36 Deletion Syndrome, which may lead to low muscle tone, seizures, and developmental delays.
(2) Risks That Become Evident After Birth
Many microabnormalities may not show obvious symptoms at birth.
In some cases, congenital heart disease or developmental delays may only be recognized in infancy or early childhood.
3. What NIPT Can and Cannot Detect
(1) Abnormalities Detectable by NIPT
- The three main trisomies:
— Trisomy 21 (Down syndrome)
— Trisomy 18 (Edwards syndrome)
— Trisomy 13 (Patau syndrome) - Sex chromosome abnormalities (depending on facility)
e.g., Turner syndrome (45,X) - Microdeletion syndromes (at specialized centers)
e.g., 22q11.2 deletion syndrome, 1p36 deletion syndrome
(2) Abnormalities NIPT Cannot Detect
- Single-gene disorders (e.g., Fragile X syndrome)
- Developmental issues caused by environmental or perinatal factors
- Very subtle chromosomal changes outside NIPT’s detection scope
NIPT is a tool that makes some invisible risks visible, but it is not all-encompassing.
4. Symptoms and Impacts of Microabnormalities
(1) Physical Manifestations
- Congenital heart defects (e.g., patent ductus arteriosus, Tetralogy of Fallot)
- Immune deficiencies, hypocalcemia
- Short stature, poor weight gain
(2) Developmental Effects
- Delayed speech and motor milestones
- Learning difficulties or ADHD tendencies
- Features of autism spectrum disorders
(3) Daily Life Impacts
- May require long-term medical care or therapy
- Importance of school and community support systems
5. How to Address “Invisible Risks”
(1) Genetic Counseling
- Accurately interpret test results
- Support family decision-making aligned with their values
(2) Confirmatory Diagnosis
- Amniocentesis or chorionic villus sampling can provide confirmation
- Helps reduce uncertainty and anxiety
(3) Preparing Postnatal Care Systems
- Build connections with pediatricians and developmental centers
- Secure access to public support services (e.g., medical subsidies, disability benefits, child development programs)
6. Psychological and Social Preparation for Families
Learning about risks can be emotionally overwhelming.
However, knowledge can transform anxiety into preparedness.
Information and community: Participate in support groups or patient associations for guidance and reassurance
Emotional processing: Acknowledge natural feelings of fear or sadness; share openly with family or counselors
Family dialogue: Discuss postnatal care plans and support needs
7. Small Changes, Big Reassurance
Microchromosomal abnormalities are often “invisible risks” in standard prenatal care.
NIPT reveals part of these risks, giving families a chance to prepare early.
Through genetic counseling, confirmatory testing, and social support, families can build a safer and more stable plan for parenting and daily life.
Early detection and understanding of small genetic changes empower families to protect their future.
8. Postnatal Life and Support Systems
If microchromosomal abnormalities are detected, families should establish a three-pillar support system covering healthcare, education, and welfare.
(1) Medical Care
- Regular pediatric health monitoring
- Early intervention for heart or immune conditions
- Access to specialty clinics and rehabilitation centers
(2) Educational and Developmental Support
- Early childhood: developmental support programs
- School age: special education classes, resource support, communication training
(3) Welfare and Financial Assistance
- Disability certificates for access to medical and welfare services
- Child allowance or financial subsidies
- Reduced financial burden, enabling stable caregiving
9. Family Mental Health and Information Sharing
When risks are identified, psychological stress is significant.
Yet accurate information and support can greatly reduce anxiety.
- Psychological support: Counseling services to process emotions
- Community participation: Join parent associations or patient groups for shared experiences
- Local resources: Consult early with municipal child support services
- Avoid isolation: Building networks sustains long-term caregiving capacity
10. Long-Term Planning for Stability
Even minor chromosomal abnormalities may require lifelong medical, educational, and social support.
Families benefit from early life planning.
Key points:
- Map out long-term medical and therapeutic schedules
- Plan for ongoing developmental support, check-ups, and treatment
- Prepare financially: use welfare services, insurance, and trusts
- Look ahead to adulthood: guardianship systems, group homes, and lifelong care options
11. Conclusion: Turning Small Abnormalities Into Preparation
NIPT partially visualizes invisible risks, offering reassurance during pregnancy.
Though small, genetic abnormalities can significantly affect development.
With healthcare, education, and welfare strategies, families can face parenthood with greater confidence.
“Knowing” is not only about anxiety — it empowers action and preparation for the future.
Recognizing small changes early and preparing proactively can safeguard the well-being of the entire family.
