NIPT- clinical implementation and considerations
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1 NIPT- clinical implementation and considerations Dr. Mireille Bekker Gynecologist University Medical Center Utrecht, the Netherlands
2 Relevant relations in the context of NIPT Sponsoring or funding of research in the field Personal fees or honorarium Shareholderships Other relations The Netherlands Organisation for Health Research and Development (ZonMw) None None Member of the NIPT Consortium of the Dutch Society of Gynaecology and Obstetrics
3 the Netherlands: 17 milion people 180,000 pregnancies/year Calvinistic: ascetism, austerity, no waste, no luxury
4 In the Netherlands National program for prenatal screening Government License to screen for: - Trisomie 21, 18 and 13 by first trimester combined test - Neural tube defects and other structural anomalies by 20 wk scan ->no private practice! 4
5 >90% invasive tests normal result: unnecessary Uptake FCT 30% = 50,000 /yr Screen pos. 5% = 2500 high risk women Only 150 carry fetus with trisomy Discontent is the first necessity of progress. Thomas Edison
6 Founded March 2011 Dutch National NIPT consortium: 8 University Medical Centers Obstetricians Geneticists Midwives Family physicians Pediatricians Patient organisations Ethicists Epidemiologists Statisticians Screening laboratories Insurance companies Aim: to provide access to NIPT for Dutch pregnant
7 April 2014: Temporary license to offer NIPT to high risk women* in a research setting: TRIDENT * High risk = FCT 1:200 or higher All women pay for FCT (164 euro) 7
8 Funded by ZonMw I. Implementation aspects: Uptake Test characteristics Technical performance (turnaround time, failure rate) Costs II. Perspective pregnant women: Reasons for/ against NIPT, informed choice, satisfaction
9 TRIDENT: Women with FCT risk >1:200 Counseling in Prenatal Diagnosis Centers Samples to University Hosp. Genetics lab (7 labs) Massively Parallel Shotgun Sequencing First year: labs paid by government Equal to CVS/amnio, 755 euro 9
10 Results TRIDENT Start: April 2014 Uptake NIPT: 90% First year: n = 3306 Result reported: n = 3278 (99.2%) Turn-around time: mean 11 days Oepkes et al
11 Results TRIDENT NIPT n = 3306 Reported as normal n= 3125 (94.5%) Reported as trisomy 21,18,13 n= 107 (3.2%) Reported as abnormal, other n= 45 (1.4%) Oepkes et al
12 Results TRIDENT After 1 year: n=3306 NIPT Confirmed False positive Trisomie Trisomie Trisomie Total unnecessary invasive procedures: 6 without NIPT this would have been = 3211 reduction of unnecessary invasive procedures: 99.8%! Money saved: procedure-cost 355 euro x 3166 = 1.12M euro
13 Always a price to pay.: - False negative NIPT? - Additional findings? 98.8% follow-up of first 5 months (n=1157) 1 missed trisomy (T21)* >3000 invasive procedures less: saved 6 lives of healthy wanted children *Case: FCT 1:140, 61 kg. At 20 wk scan soft markers. Amnio: full T 21, Robertsonian translocation 21:21, TOP 13
14 Other trisomies (n=29/3306 = 0.88%) Other trisomies: most not confirmed / mosaic / UPD Similar to CVS Sistermans et al
15 Subchromosomal (n=16/3306=0.5%) Subchromosomal del/dup n=16 confirmed n = 7 (2p,8p,9p,11p,12q,13q,18p) Sistermans et al
16 NIPT additional findings Confirms concept: NIPT = non-invasive CVS (direct-prep) Rare, often clinically irrelevant, occasionally useful e.g. IUGR risk Benefit or burden? Needs to be part of counseling (doctors are used to that ) 16
17 Counseling parents Pre-test counseling is important Test characteristics NIPT looks at the placenta Discrepant findings
18 Discrepant findings Confined Placental Mosaicism ( false positive) Maternal or fetal mosaicism ( false positive or false negative) Low fetal fraction (BMI, gestational age, fetal aneuploidy) Maternal deletion or duplication ( false positive) Maternal cancer ( false positive) Vanishing twin ( false positive or false negative) Maternal sex chromosome abnormality ( 8% of abnormal sex chromosome NIPT results -> of maternal origin)
19 Mosaicism 1. Fetus and placenta: same chromosomal pattern 2. Fetus normal and abnormal placenta = confined placental mosaicism (CPM) 3. Fetus abnormal and placenta partly abnormal = generalized mosaicism discrepant direct (GMDD) 4. Fetus abnormal and normal placenta = confined fetal mosaicism
20 Cell lines trophoblast STC / NIPT mesenchyme LTC / QF-PCR fetal cells in amniotic fluid QF-PCR / array
21 Confined placental mosaicism (CPM) Fetus normal and abnormal placenta Abnormal trophoblast cells/mesenchyme: NIPT/STC/LTC abnormal Normal fetal cells: QF-PCR normal 1-2% Generalized mosaicism discrepant direct (GMDD) Fetus abnormal and placenta partly abnormal Normal trophoblast: STC/ NIPT normal Abnormal mesenchym: LTC abnormal Abnormal fetal cells: QF-PCR abnormal 1-2:1000 Confined fetal mosaicism (CFM) Fetus abnormal and normal placenta Normal trophoblast/mesenchym: STC/NIPT/LTC normal Abnormal fetal cells: QF-PCR abnormal 1:33000
22 What do pregnant women want?
23 Questionnaires N=1093 Women s preferences (after pre-test counseling) NIPT 92% Amnio/CVS 5% Decline test 1% Unsure 2% Henneman et al
24 Main reason for preferring NIPT n=999 It's safe for my baby My doctor advised me to do it It can be done early in pregnancy Simple procedure Contribute to science My partner wants it % 80% accepts (to some degree) that NIPT does not give 100% certainty Henneman et al
25 Main reason for preferring invasive testing n=54 Test accuracy Fast results If NIPT positive, invasive testing needed Gives more information about child Other My partner wants it My doctor recommends it % Henneman et al
26 NIPT vs. Invasive Women who prefer invasive testing are more likely to terminate pregnancy: Trisomy 21 Invasive: 87% NIPT: 57% Trisomy 13/ Trisomy 18 Invasive: 98% NIPT: 75% Henneman et al
27 Waiting time for NIPT results Results NIPT received after mean 11 days (range 5-32) Waiting time perceived as (much) too long: 68% Waiting (much) too long Waiting not too long Would have preferred other test: 3% Time until NIPT results received (in days) Henneman et al
28 Women's and healthcare professionals' preferences for prenatal testing Discrete choice experiment: minimal gestational age, time to test results, level of information, detection rate, false positive rate, miscarriage risk and costs. Pregnant women are willing to accept a less accurate test to obtain more information on fetal chromosomal status or to exclude the risk of procedure-related miscarriage. Healthcare professionals put more emphasis on timing and accuracy of the test Beulen et al, Prenat Diagn 2015
29 Women's and healthcare professionals' preferences for prenatal testing CONCLUSION: Pregnant women and healthcare professionals differ significantly in their preferences regarding prenatal tests. Healthcare professionals should take these differences into consideration in counseling Beulen et al, Prenat Diagn 2015
30 Conclusions Most high-risk women want NIPT Lab performance as promised Vast reduction invasive tests Saves money Counseling is important Offering NIPT to high-risk women should be standard of care 30
31 In the meantime Germany Belgium
32 Future plans TRIDENT 2: in low risk population New licence in needed NIPT in monogenetic disorders
33 Discontent is the first necessity of progress. Thomas Edison Acknowledgement: Lieve Christiaens Dick Oepkes Erik Sistermans Lidewij Henneman Joanne Verweij Attie Go Caroline Bax Eva Pajkrt Katia Bilardo John van Vugt Audrey Coumans Guus Lachmeijer Elles Boon Robertjan Galjaard Brigitte Faas Rachel van Schendel Cees Oudejans Wybo Dondorp TRIDENT was financially supported by a grant from ZonMw And many others.. 33
34
35 Cell lines NIPT Trophoblast cells placenta CVS STC: trophoblast cells placenta LTC: mesenchyme cells placenta QF-PCR mesenchyme cells placenta Array: mesenchyme cells placenta Amniocentesis QFPCR: fetal cells Array: fetal cells
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