NON-INVASIVE PRENATAL TESTING
INTRODUCTION CASE SNAPSHOT REAL CASE SNAPSHOT
Presentation by Dr. Jeevan Jyoti Sharma
[Guide: Dr. Manjusha
Prenatal detection of chromosomal
Bajaj]
abnormalities has moved from serum and
Trisomy 21 (Down): >90%
Trisomy 18 (Edwards): ~97%
27 y/o G2A1
NT scan normal
invasive diagnostic procedures (CVS, Trisomy 13 (Patau): High High risk for Klinefelter (47,XXY)
amniocentesis) to accurate, safe, early Sex chromosome: X|Y Confirmed by amniocentesis
CONDITIONS DETECTED
non-invasive testing using cell-free fetal Microdeletion (e.g. 22q11) Counseling on prognosis & decision-
DNA. CLINICAL INSIGHT making
REFERENCES
✔ Non-invasive
✔ High sensitivity & specificity
✔ Early testing (from 10 weeks) NIPT shows superior detection of - ACOG Practice Bulletin 226
✔ Reduces need for invasive procedures sex chromosome aneuploidies even - Blanchi DW et al. N Engl J Med
✔ Useful in high-risk pregnancies when conventional markers are
normal.
INDICATIONS FOR NIPT
- Advanced maternal age (>35 years)
- Abnormal 1st/2nd trimester screening
- Previous chromosomal anomaly
- Ultrasound markers of aneuploidy
- Parental translocation/genetic risk