NIPT, SCREENING TEST

 

NIPT IS A SCREENING TEST OF HIGHER SENSITIVITY
It measures circulating cell-free DNA (cfDNA) from placenta present in maternal blood

Results will be reported in various ways and may be worded as:
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1.positive or negative
2.aneuploidy detected, no aneuploidy detected or aneuploidy suspected/borderline value
3.high risk or low risk

Limitations of Non-Invasive Prenatal Testing (NIPT)
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NIPT cannot:
Detect chromosome differences other than aneuploidy of chromosomes 13, 18, 21, X and Y
Completely rule out aneuploidy
Detect single gene conditions
Detect congenital anomalies
Possibility of no result (~6%)
1/2- 2/3 can be successfully resolved with redraw at later gestation
False positives and false negatives
Twins pregnancies
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The diagnostic test for fetal chromosomal abnormality is prenatal genetic testing by amniocentesis
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