INNOVATIE. Huisartsensymposium NIPT (or NIPS?)
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1 NIPT (or NIPS?)
2 NIPT NON INVASIVE PRENATAL TESTING Testing of cff DNA (cell free fetal DNA) from maternal blood during pregnancy for trisomy 21, 18 and 13
3 Trisomy 21, 18, 13 screening Trisomy 21 (Down syndrome) Trisomy 18 (Edwards syndrome) Trisomy 13 (Patau syndrome)
4 Risk Down syndrome versus Maternal Age Age Frequency (live births) < 35 < 0.3 % % 40 1 % %
5 History Down syndrome screening 1980 : Amniocentesis (advanced maternal age) 1990 : Triple screening (T21, T18 and T13) 2000 : First trimester screening (T21, T18 and T13) 2012 : First trimester screening + NIPT (T21, T18 and T13) 201? : NIPT (extensive genetic screening)
6 Serum Down syndrome screening Triple screening ( > 1990) Maternal age Serum : AFP, HCG, free oestriol Combi test ( > 2000) Maternal age Nuchal translucency (NT) Serum : free B-HCG, PAPP-A
7 Classical Down syndrome screening First trimester serum screening (combi test) Combi test: Risk calculated from: 1. Maternal age: the higher the age, the higher the risk of T21, T18, T13 2. Nuchal translucency (NT): the higher the NT, the higher the risk of T21, T18, T13 3. Serum parameters PAPP-A and free B HCG
8 NIPT history 1997: Lo et al.:cff DNA in maternal circulation 2006: Sexing fetus for: 1. X-linked genetic disorders 2. Sexing in China girls / yr killed 2011: Detection trisomy 21/18/ : Daily > 2000 NIPT tests worldwide
9 NIPT essentials 1. TEST : trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome). Also sex of the fetus is determined. 2. SAMPLE: Specific test kits provided by GENDIA 3. TIMING: > week TURNAROUND TIME: < 2 weeks 5. RELIABILITY: > 99% for trisomy INDICATIONS: Although NIPT can be performed in every pregnancy, it is especially indicated: If the triple test or first trimester screening indicates an increased risk Advanced maternal age Anxiety for invasive procedures 7. CONTRAINDICATIONS: NIPT is not the test of choice when there is : Fetal anomalies on ultrasound Severely elevated NT (nuchal translucency) with normal PAPP-A and free B HCG A triplet pregnancy, vanished twin 8. PRICE: 450,- Euro
10 NIPT cff DNA < 1 % of total DNA in maternal circulation is fetal 5-30 % of cell-free DNA in maternal circulation is fetal
11 NIPT for trisomy 21 NIPT measures the ratio of chromosome 21 sequence versus control chromosome sequence to exclude trisomy 21.
12 NIPT Indications NIPT is currently the test of choice when there is: Increased maternal age Increased risk on Combination or triple test Down syndrome in previous pregnancy
13 NIPT Contra indications NIPT is NOT the test of choice when there is: Fetal anomalies on ultrasound Severely elevated NT (nuchal translucency) with normal PAPP-A and HCG A triplet pregnancy Vanishing twin Known genetic anomalies that cannot be diagnosed by NIPT
14 NIPT advantages versus combi test with AC / CVS High sensitivity (few false-negatives) High specificity (few false-positives) Non-invasive: no fetal risk CVS: Risk of miscarriage: 1-2 % AC: Risk of miscarriage: 0.5 %
15 NIPT versus classical screening in a country with 10 million inhabitants Classical NIPT Number screenings Expected T (1/500) 200 (1/500) Detection rate 73 % < 99 % T False-negatives 54 (27 %) < 1 (0.3 %) False-positives 4990 (4.8 %) < 100 (0.03 %) Iatrogenic Miscarriage 50 1
16 30 year old mother child with down syndrome Test positive Test negative Down syndrome pregnancy Unaffected pregnancy 99.5 (True positive) 100 (False positive) 0.5 (False negative) 99,800 (True Negative)
17 NIPT : the future 1. Comparative genomic hybridization All chromosomes Small deletions - duplications 2. Detection common monogenic mutations - cystic fibrosis - Spinale musculaire atrofie 3. Whole exome / genome sequencing
18 dewereldmorgen.be Bart Moens gezinswetenschapper Zullen ouders zich in de toekomst alsmaar meer moreel en/of sociaal verplicht voelen om te kiezen voor prenatale diagnostiek? Zullen ouders in de toekomst nog vrij kunnen en mogen kiezen om een problematische zwangerschap uit te dragen?
19 Mark Leach is an attorney with a Master's in Bioethics, focusing on health law and public. not the holy grail of prenatal testing it is a screening test, of placental DNA, effective in high-risk populations fewer invasive diagnostic procedures
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21 ARIOSA vs KUL Trisomies Turnaround time Harmony (Ariosa USA) KUL (Leuven) T21, T18, T13 T21 11 days 21 days External validation Twins Egg donor Women > 100 kg Yes Yes Yes No No No Total patients analysed > < 1000 Fetal fraction Yes?????? Publications with clinical studies 6 0 Earlist sample Week 10 Week 11 Logistics Sample taken by AML?????? Price 450 Euro 460 Euro
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