Non Invasive Prenatal Testing for Aneuploidy (NIPT)

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Presentation transcript:

Non Invasive Prenatal Testing for Aneuploidy (NIPT) Max Brinsmead MB BS PhD December 2017

How is it done? Cell-free DNA from fetal trophoblast is released into the maternal circulation Detected from 10w gestation until delivery Amplified by massive parallel sequencing Quantified by comparing amounts of DNA from chromosomes of interest esp C21 Complex biostatistical analysis of the amount detected in comparison to fetal DNA from other chromosomes Results in a low or high risk result So this is a SCREENING TEST

How good is the test? From a meta analysis of31 studies and >148,00 tests for Trisomy 21 Trisomy 21 Sensitivity 99.4% Specificity 99.9% Trisomy 18 Sensitivity 97.7% Specificity 99.9% Trisomy 13 Sensitivity 90.6% Specificity 100% Monosomy X Sensitivity 92.9% Specificity 100% Not recommended for Twins

Advantages & Problems of NIPT Non invasive and therefore “safe” False positives and Inconclusive Results for 2 – 6% of samples. Possible reasons include: Low fraction of fetal DNA in the sample Vanishing twin with aneuploidy Placental mosaicism (a problem for CVS too) Maternal chromosomal problems and cancers Up to 20% of inconclusive results will be inconclusive on re sampling and testing Issues of QA in commercial labs Cost Loss of opportunity/skills in CVS and amnio Ethical issues (to be discussed)

Ethical Problems of NIPT Because it is a SCREENING TEST all of the implications have to be known and understood before the test is done Some fetal aneuploidies, especially those of the sex chromosomes, have unpredictable effects and outcomes A maternal chromosomal abnormality can be revealed Some maternal cancers can be revealed Cost effectiveness and its role in high risk and the general obstetric population are yet to be determined

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