Procedure-related Miscarriage Research Articles

A noninvasive prenatal test pipeline with a well-generalized machine-learning approach for accurate fetal trisomy detection using low-depth short sequence data

Noninvasive prenatal test (NIPT) reduces the associated risk of procedure-related miscarriage. However, due to accuracy, special fetuses, economic and policy gaps, NIPT still cannot replace traditional surgical methods. Developing a pipeline with low cost, low technical difficulty, stability and high accuracy is a major challenge for NIPT to be widely used. This study proposes a new pipeline for the detection of fetal trisomy which includes 3 steps: 1. 40 bp single-end sequencing, 2. PchrN calculations, and 3. logisticregression (LR) models. Part of the public dataset (100 out of 144 samples) was used to train models and select features in the machine learning pipeline. 314 samples from different sources were used for independent testing. We compare the performance of our method with the bioinformatics method widely used today. Our model shows high robustness to data from different sources. The final best model achieved an AUC of 99.85 % in predicting T21 using chr21 features which are the DNA fragment concentrations. The AUC is 99.50 %, and 97.70 % in predicting T18 and T13 with all features from 24 chromosomes. The PPV of T21, T18 and T13 was predicted to be 91.67 %, 93.33 % and 83.33 %, respectively, which was higher than that obtained by standard bioinformatics methods. The NPV to identify T21, T18, and T13 were 100 %, 99.33 %, and 98.70 %, respectively. Our approach does not need to calculate fetal fraction (FF) and can handle samples from a wide range of gestational ages (GA), twin pregnancies and fetal mosaicism. Our approach can achieve comparable accuracy with the current standard bioinformatics analysis in low-depth sequencing data. This convenient pipeline can be used independently of traditional bioinformatics methods, and its performance has been tested in real clinical practice. Our pipeline can be an important aid for the detection of fetal trisomy in clinical NIPT, which will help further popularize NIPT.

DEGUM Recommendations on Diagnostic Puncture in Prenatal Medicine.

Diagnostic puncture (amniocentesis, chorionic villus sampling, and fetal blood sampling) is an essential part of prenatal diagnostics and the only established and sufficiently scientifically evaluated possibility of diagnosing genetic diseases from pregnancy-specific cells. The number of diagnostic punctures in Germany, as in other countries, has fallen significantly. This is largely due to the introduction of first-trimester screening with further detailed ultrasound examination of the fetus and the analysis of cf-DNA (cell-free DNA) from maternal blood (noninvasive prenatal test - NIPT). On the other hand, knowledge about the incidence and appearance of genetic diseases has increased. The development of modern molecular genetic techniques (microarray and exome analysis) makes a differentiated investigation of these diseases increasingly possible. The requirements for education and counseling regarding these complex correlations have thus increased. The studies performed in recent years make it clear that diagnostic puncture performed in expert centers is associated with a low risk of complications. In particular, the procedure-related miscarriage risk hardly differs from the background risk for spontaneous abortion. In 2013, the Section of Gynecology and Obstetrics of the German Society for Ultrasound in Medicine (DEGUM) published recommendations on diagnostic puncture in prenatal medicine 1. The developments described above and new findings in recent years make it necessary to revise and reformulate these recommendations. The aim of this review is to compile important and current facts regarding prenatal medical puncture (including technique, complications, genetic examinations). It is intended to provide basic, comprehensive, and up-to-date information on diagnostic puncture in prenatal medicine. It replaces the publication from 2013 1.

Non-invasive prenatal testing for everybody or contingent screening?

To compare the advantages and disadvantages of two main implementation strategies for non-invasive prenatal testing (NIPT) for the detection of trisomies 21, 13 and 18 in public healthcare settings. These concern NIPT as a first-tier screening test for all pregnant women, or NIPT contingent on an increased risk first-trimester combined test (FCT) result. Comparison based on (un)published data and literature. Despite the lower prevalence of trisomies in the low-risk population, data show that the positive predictive value (PPV) and detection-miscarriage ratio of first-tier NIPT are comparable to NIPT used as contingency test. Advantages of NIPT as a first-tier test compared to FCT with contingent NIPT are that there is no time-window for testing, sensitivity is higher, fewer women need follow-up testing (PPV of NIPT is higher than PPV of FCT), less anxiety for pregnant women and partners. When given the choice, pregnant women prefer first-tier NIPT. Although contingency testing still seems to be the cheaper option, the differences in costs are becoming increasingly smaller and might soon disappear. We argue that NIPT should preferably be offered as a first-tier test for the detection of fetal aneuploidies for all pregnant women, provided that women are supported to make informed decisions. This article is protected by copyright. All rights reserved.

Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy.

Background: The existing risk of procedure-related miscarriage following invasive sampling for prenatal diagnosis is higher for twin pregnancies and some women are reluctant to test these typically difficultly obtained pregnancies invasively. Therefore, there is a need for noninvasive testing options that can test twin pregnancies at an early gestational age and ideally test the twins individually. Case presentation: A pregnant woman opted for cell-based NIPT at GA 10 + 5. As cell-based NIPT is not established for use in twins, the test was provided in a research setting only, when an ultrasound scan showed that she carried dichorionic twins. Materials and Methods: Fifty mL of peripheral blood was sampled, and circulating fetal cells were enriched and isolated. Individual cells were subject to whole-genome amplification and STR analysis. Three fetal cells were analyzed by chromosomal microarray (aCGH). Results: We identified 20 fetal cells all sharing the same genetic profile, which increased the likelihood of monozygotic twins. aCGH of three fetal cells showed the presence of two X chromosomes and a gain of chromosome Y. CVS from both placentae confirmed the sex chromosomal anomaly, 47,XXY and that both fetuses were affected. Conclusion: NIPT options can provide valuable genetic information to twin pregnancies that help the couples in their decision-making on prenatal testing. Little has been published about the use of cell-based NIPT in twin pregnancies, but the method may offer the possibility to obtain individual cell-based NIPT results in dizygotic twins.

Elective Fetal Reduction in Dichorionic Diamniotic Twin Pregnancies on Parental Request: A Single-Centre Experience

Objectives: Our study aimed to examine a subset of electively reduced twins and compare their outcomes with those of expectantly managed twins, along with a cohort of singleton pregnancies. The secondary aim was to ascertain the procedure-related miscarriage risks. Methods: A retrospective cohort analysis was performed at Apollo Centre for Fetal Medicine, New Delhi, comparing pregnancy outcomes in dichorionic diamniotic twin pregnancies which were reduced to singletons (group 1) with that of women with dichorionic twins managed expectantly (group 0) and women with a singleton pregnancy (group 2). Comparison of continuous and categorical variables was conducted using standard statistical tests. Results: We analysed 35 twins which were reduced to singletons, 421 expectantly managed dichorionic twins and 1915 women with a singleton pregnancy. In the reduction group, the rate of procedure related pregnancy loss<24 weeks was lower, compared to the expectantly managed twins, although the difference was not statistically significant (5.71% [2/35] vs. 7.13% [30/421]; p = 1.000). The median gestational age at delivery was significantly higher in reduced twins compared to expectantly managed twin pregnancies (38.0 vs. 35.4 weeks respectively, p < 0.001) with a higher mean birth weight at delivery, both of which were comparable to that among the singleton pregnancies (38.3 weeks). The rates of preterm birth <32 weeks and <34 weeks in the expectantly managed twins were significantly higher at 19.8% (66/334) and 25.7% (86/334) compared to the reduced twins, all of whom delivered beyond 34 weeks. The rates of preterm births <32 weeks, <34 weeks, and the late preterm births in the reduced twins were comparable to those in the singleton cohort. Conclusions: The obstetric and perinatal outcomes after reduction of a dichorionic twin are better than an expectantly managed twin without an associated increase in pregnancy loss rates. Fetal reduction of dichorionic twin to a singleton appears to be a safe procedure in expert hands.

Intrauterine surgery: how far we have come in 30 years.

Intrauterine surgery: how far we have come in 30 years.

Quantitative fluorescent PCR (QF-PCR) for prenatal diagnosis of fetal aneuploidy: Indian experience

Introduction: Prenatal diagnosis of fetal chromosomal aneuploidies has traditionally relied on cytogenetics. In recent times QF-PCR, to detect the common aneuploidies has been reported. In view of the paucity of Indian experience regarding QF-PCR, we present prospective data from our centre. Materials and Methods: 572 AF samples were collected from Indian women with singleton pregnancy between 16-20 weeks gestation after counselling. The samples were collected over one year and followed up till delivery. AF was sent for QF-PCR for chromosomes 13, 18, 21 and 23. Results: There was no procedure related miscarriage, or IUFD. There were seventeen trisomy 21, two 47XXX and one 47XXY. All pregnancies with fetal aneuploidies underwent termination. All 552/572 women with normal report were followed up and none had IUFD or clinical features of trisomy 21 after term or preterm births. Discussion: The current study stresses the clinical importance of shorter TAT advantage and the slight cost advantage of QF-PCR over FISH. The current study shows QF-PCR is a satisfactory method for diagnosing chromosomal aneuploidy from amniotic fluid in screen positive population, has advantages and might be preferred more in near future in place of FISH, especially in the scenario of increasing awareness of biochemical screening for chromosomal aneuploidies in India. However, more such studies with increased numbers and in multiple pregnancies are required. The current study is ongoing and hopefully we will be able to present such data soon. Keywords: QF-PCR, Aneuploidy, Prenatal diagnosis, Segmental duplication.

OP354 Cost-Effectiveness Analysis Of Different Prenatal Screening Strategies For Down Syndrome In China: Data From Shandong Province

IntroductionThere are large differences between the prenatal screening strategies for Down Syndrome (DS) in different provinces in China. In Henan province there is a serological triple screening in the second trimester (STS) strategy, while in Shandong province contingent non-invasive prenatal testing (NIPT) screening strategy (NIPT delivered to older pregnant women) is used, and there is a universal NIPT screening strategy in Anhui province. Moreover, many factors varied widely in different regions, such as the proportion of older pregnant woman and the ability of people to pay. This study aimed to determine the cost-effectiveness of current strategy in Shandong compared with strategies in other provinces.MethodsA decision tree model was developed according to the screening strategies in different provinces. Four screening strategies were involved, universal STS strategy, contingent STS strategy, contingent NIPT strategy, and universal NIPT strategy. Cost-effectiveness analysis was conducted from a societal perspective in a simulated cohort of 100,000 pregnant women. The data of costs and epidemiologic parameters were collected from field surveys in Shangdong and a literature review.ResultsThe universal STS strategy, contingent STS strategy, contingent NIPT strategy, and universal NIPT strategy could prevent 17.0, 40.0, 46.2, and 53.6 DS births, respectively. There was no strategy dominated by others. The universal NIPT strategy and contingent NIPT strategy would decrease invasive procedures for prenatal diagnosis, resulting in fewer procedure-related miscarriages. The sensitivity analysis showed that the effectiveness of the screening strategy is significantly influenced by the resident's acceptance of NIPT.ConclusionsFrom the perspective of maximizing the effect, the universal NIPT strategy is the optimal strategy. But taking into account the resident's and government's ability to pay, contingent NIPT Strategy may be appropriate for the current situation in Shandong. To ensure a better cost-effective advantage in the universal NIPT strategy, the government should provide health education to increase the acceptance of NIPT while controlling the price of NIPT.

A novel non-invasive prenatal sickle cell disease test for all at-risk pregnancies.

Sickle cell disease (SCD) is the most common genetic haematological disorder. The availability of non-invasive prenatal diagnosis (NIPD) is predicted to increase uptake of prenatal diagnosis for SCD, as it has no perceived procedure-related miscarriage risk. We report the development of a targeted massively parallel sequencing (MPS) assay for the NIPD of fetal SCD using fetal cell-free (cf)DNA from maternal plasma, with no requirement for paternal or proband samples. In all, 64 plasma samples from pregnant women were analysed: 42 from SCD carriers, 15 from women with homozygous (Hb SS) SCD and seven from women with compound heterozygous (Hb SC) SCD. Our assay incorporated a relative mutation dosage assay for maternal carriers and a wild type allele detection assay for affected women (Hb SS/Hb SC). Selective analysis of only smaller cfDNA fragments and modifications to DNA fragment hybridisation capture improved diagnostic accuracy. Clinical sensitivity was 100% and clinical specificity was 100%. One sample with a fetal fraction of <4% was correctly called as 'unaffected', but with a discordant genotype (Hb AA rather than Hb AS). Six samples gave inconclusive results, of which two had a fetal fraction of <4%. This study demonstrates that NIPD for SCD is approaching clinical utility.

Clinical utility of expanded carrier screening: results-guided actionability and outcomes

PurposeExpanded carrier screening (ECS) informs couples of their risk of having offspring affected by certain genetic conditions. Limited data exists assessing the actions and reproductive outcomes of at-risk couples (ARCs). We describe the impact of ECS on planned and actual pregnancy management in the largest sample of ARCs studied to date. MethodsCouples who elected ECS and were found to be at high risk of having a pregnancy affected by at least one of 176 genetic conditions were invited to complete a survey about their actions and pregnancy management. ResultsThree hundred ninety-one ARCs completed the survey. Among those screened before becoming pregnant, 77% planned or pursued actions to avoid having affected offspring. Among those screened during pregnancy, 37% elected prenatal diagnostic testing (PNDx) for that pregnancy. In subsequent pregnancies that occurred in both the preconception and prenatal screening groups, PNDx was pursued in 29%. The decision to decline PNDx was most frequently based on the fear of procedure-related miscarriage, as well as the belief that termination would not be pursued in the event of a positive diagnosis. ConclusionECS results impacted couples' reproductive decision-making and led to altered pregnancy management that effectively eliminates the risk of having affected offspring.

Cost-Effectiveness Analysis of Non-invasive Prenatal Testing for Down Syndrome in China.

There is little evidence in China regarding the cost-effectiveness of non-invasive prenatal testing (NIPT) for Down syndrome (DS). This study aims to evaluate the cost-effectiveness of NIPT and provide evidence to inform decision-making. To determine the cost-effectiveness of NIPT for DS, a decision-analytic model was developed using the TreeAge Pro software from a societal perspective in a simulated cohort of 10 000 pregnant women. Main indicators were based on field surveys from sampled hospitals in four locations in China and a literature review. The conventional maternal serum screening (CMSS) strategy, contingent screening strategy (NIPT delivered to high risk pregnant women after CMSS), and universal screening strategy could prevent 3.02, 7.53, and 9.97 DS births, respectively. NIPT would decrease unnecessary invasive procedures, resulting in fewer procedure-related miscarriages. The cost-effectiveness ratio of the contingent screening strategy was the lowest. When compared with the CMSS strategy, the incremental cost per DS birth averted by the contingent screening strategy and universal screening strategy were USD 20,160 and 352,388, respectively. One-way sensitivity analysis showed that, if the cost of NIPT could be decreased to USD 76.92, the cost-effectiveness ratio of the universal screening strategy would be lower than the CMSS strategy. Although NIPT has the merits of greater effectiveness and safety, CMSS is unlikely to be replaced by NIPT at this time because of NIPT's higher cost. Contingent screening may be an appropriate strategy to balance the effectiveness and cost factors of the new genetic testing technology.

PMD30 - BUDGET IMPACT ANALYSIS OF ROUTINE ADOPTION OF NON-INVASIVE PRENATAL TESTING (NIPT) IN DIFFERENT RISK-SCORE PREGNANCY POPULATIONS IN THE UK

The Fetal Anomaly Screening Programme (FASP) will include NIPT for pregnant women whose first or second-trimester screen test for trisomy 21, 18 and 13 produces a “higher-chance” risk score (≥ 1:150). NIPT reduces invasive testing (IT) and procedure-related miscarriages and complications (PRMC), stimulating a debate on the cut-off score. This study compared the clinical and economic outcomes of adding NIPT to the current screening regimen with standard care (SC) from a UK NHS perspective. Scenario analysis evaluated the impact of different risk cut-offs and screening approaches. Decision analytic modelling was used to determine the short-term and five-year costs and outcomes of women with singleton pregnancies >10 weeks gestational age (n=800,561). Literature-based key assumptions included a 66% uptake of prenatal screening and a 72% uptake of IT after a positive prior screen. Sensitivity and specificity is trisomy and test-dependent but assumed 100% for IT. Contingent on a risk score ≥ 1:150, adding NIPT reduces IT, and PRMC by 50% vs. SC, while saving £2078 per trisomy detected, despite a 3% increase in missed trisomies (due to NIPT’s slightly lower sensitivity for T18 and T13 vs. IT). Changing the threshold risk score to 1:300 or 1:1000 reduced missed trisomies by >45% compared with SC while reducing IT and PRMC by >45% and saving £4939 per trisomy detected (1:300) or increasing costs by £30 per woman screened (1:1000). Offering NIPT first-line (at 1:150 cut-off) was the only approach to reduce trisomy-affected births but significantly increased costs. Varying the NIPT false-positive rate from 0.1% to 1% increased IT, PRMC and costs. Introducing second-line NIPT in higher-risk pregnancies produces the expected reductions in IT and PRMC. However, a risk cut-off of 1:300 or 1:1000 increases the total number of trisomies detected while reducing IT and PRMC.

Clinical and Economic Impact of Adopting Noninvasive Prenatal Testing as a Primary Screening Method for Fetal Aneuploidies in the General Pregnancy Population

Objective: To evaluate the clinical and economic impact of adopting noninvasive prenatal testing (NIPT) using circulating cell-free DNA as a first-line screening method for trisomy 21, 18, and 13 in the general pregnancy population. Methods: A decision-analytical model was developed to assess the impact of adopting NIPT as a primary screening test compared to conventional screening methods. The model takes the Belgium perspective and includes only the direct medical cost of screening, diagnosis, and procedure-related complications. NIPT costs are EUR 260. Clinical outcomes and the cost per trisomy detected were assessed. Sensitivity analysis measured the impact of NIPT false-positive rate (FPR) on modelled results. Results: The cost per trisomy detected was EUR 63,016 for conventional screening versus EUR 66,633 for NIPT, with a difference of EUR 3,617. NIPT reduced unnecessary invasive tests by 94.8%, decreased procedure-related miscarriages by 90.8%, and increased trisomies detected by 29.1%. Increasing the FPR of NIPT (from < 0.01 to 1.0%) increased the average number of invasive procedures required to diagnose a trisomy from 2.2 to 4.5, respectively. Conclusion: NIPT first-line screening at a reasonable cost is cost-effective and provides better clinical outcomes. However, modelled results are dependent on the adoption of an NIPT with a low FPR.

Women's preference for non-invasive prenatal DNA testing versus chromosomal microarray after screening for Down syndrome: a prospective study.

To examine preferences for follow-up testing in women screened with high or intermediate risk for Down syndrome in the first or second trimester. Prospective cohort study. Three public hospitals in Hong Kong, China. Women with pregnancies termed as high risk (≥1:250; HR) or intermediate risk (1:251-1200; IR) for Down syndrome. Women with pregnancies screened as HR were offered the choices of: (1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information; (2) non-invasive cell-free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21, and to avoid procedure-related miscarriage; and (3) to decline any further testing. Women received standardised counselling informing them that the reporting times were identical, the procedure miscarriage risk was 0.1-0.2% and that there was no charge for screening. Women with IR pregnancies (1:251-1200) were offered NIPT as a secondary screening test. Uptake rate for NIPT. Three hundred and forty-seven women had pregnancies deemed as HR; 344 (99.1%) women opted for follow-up testing, 216 (62.2%) of whom chose NIPT. Five hundred and seven of 614 women (82.6%) with IR risk chose NIPT. Seven (21%) of 34 women with nuchal translucency ≥3.5 mm opted for NIPT. In a setting where reporting times are similar and there is no cost difference between options, approximately 60% of women with pregnancies classed as HR would opt for NIPT, offering simple but limited aneuploidy assessment, over a diagnostic procedure with comprehensive and more detailed assessment. 60% of pregnant Chinese women prefer NIPT over CMA when screened as high risk for Down syndrome.

Chorionic Villus Sampling (CVS) for Prenatal Diagnosis of Genetic Disorders in Bangladesh

Objective(s): The aim of the study was to identify safety and outcome of trans abdominal Chorionic Villus Sampling (CVS) for prenatal diagnosis of genetic disorders.Materials and methods: This is a retrospective analytical study on women who had undergone trans abdominal CVS. All CVS were done at Fetal medicine centre, Family Foundation, Green Road, Dhaka, from June 2013 to December 2016. A total of 286 couples, who were referred for prenatal diagnosis of various genetic disorders were studied. Trans abdominal CVS was done under local anesthesia and real-time ultrasound guidance. A 18G/88mm Spinal Needle (B Braun, Germany) was used. All CVS were performed with the “2 operators” technique. The needle was introduced trans abdominally into the placenta in its longitudinal direction. Once the needle was adequately placed, the chorionic villi were aspirated with a to and fro jiggling movement of the aspiration needle and a suction force was applied through a syringe. Results were recorded and analyzed for descriptive statistics.Results: A total of 286 CVSs were performed as outdoor basis. The most common indication was detecting Beta-thalassaemia (82.5%). Other indications were for diagnosis of aneuploidy (9.7%), Hemophilia (3.1%), Spinal muscular atrophy (SMA) (2.4%), Duchenne Muscular Dystrophy (DMD) (2%). Most procedures were done between 11 and 13 weeks (range 11- 14 weeks). Most aspirations (95.1%) were easy; however, in 4.8% cases the aspiration was difficult due to a variety of factors. The overall success rate was 100%. Minor complications like placental hematoma and pervaginal (P/V) bleeding occurred in 2% and 1.3% respectively, which were subsided by conservative management. The procedure related miscarriage within three weeks not occurred in any cases.Conclusion: Trans abdominal CVS under real-time sonography is a useful outdoor procedure for prenatal diagnosis in early pregnancy without significant risk to the mother and the fetus.Bangladesh J Obstet Gynaecol, 2016; Vol. 31(2) : 63-69

Prenatal diagnosis tests and women’s risk perception: a cross-sectional study

Objective: To investigate women’s decision to undergo non-invasive and/or invasive tests for prenatal diagnosis depending on the procedure-related risk and the risk of carrying a foetus with Down syndrome (DS). Both risks are rated in terms of numerical relevance and acceptability.Method: A sample of 448 consecutive women with low-risk pregnancies were interviewed to collect social and clinical variables and to determine their perceptions of the risks of invasive procedure-related miscarriage and carrying a foetus with DS. The risks were scored numerically in terms of their relevance and acceptability using a 10-point rating scale.Results: The factors related to the use of non-invasive tests were age ≥35 years, not being treated at a public service, rating the risk of carrying a foetus with DS as having high numerical relevance and low acceptability, and rating the risk of miscarriage as having high acceptability. These relationships were still present when the use of invasive tests was considered, except in terms of the numerical relevance of the risk of carrying a foetus with DS.Conclusion: Perceived acceptability affects the interpretation of a given risk more than the numerical relevance of the risk.

Overview of Fetal Therapy

ABSTRACT An improving ability to diagnose fetal conditions with higher accuracy prompts an attempt for a salvage treatment in utero. Fetal conditions amendable for prenatal intervention are limited to only diseases that can either kill the baby in utero or leave the baby with significant handicap. Therapeutic intervention has to be highly selective. Factors that need to be considered before offering in utero treatment include the highly investigative nature of certain procedures. For instance, at the time of writing this paper, fetal endoluminal tracheal occlusion for severe congenital diaphragmatic hernia is still under a randomized controlled investigational trial to validate its potential benefits and risks to the fetus with severe congenital diaphragmatic hernia with suboptimal growth of the residual lung tissue. There are chances of procedure-related miscarriages, preterm premature rupture of the membranes, and maternal morbidity that need to be discussed in an unbiased counseling session. The right balance between potential benefits and harms requires validation with rigid scientific methodology before the practice has become a “standard of care.” For example, laser photocoagulation of anastomosing chorionic vessels has become a standard of care in many places due to its superior perinatal survival and composite outcomes, particularly for the childhood neurodevelopmental status. With an ongoing technological development, it is foreseeable that there will be more proposals of implementing novel medical technologies to the use of fetal therapy. Currently, there are only a handful of fetal care centers, and most of the experienced ones are clustered in developed part of Europe and the USA. Dissemination of this type of service which requires years of experiences to develop surgical skill and the support by the most technological advanced instrument and setting is a real challenge that need to be addressed, discussed, and solved as a global agenda. How to cite this article Wataganara T, Phithakwatchara N, Nawapun K. Overview of Fetal Therapy. Donald School J Ultrasound Obstet Gynecol 2016;10(4):387-392.

Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down’s syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units

Objective To investigate the benefits and costs of implementing non-invasive prenatal testing (NIPT) for Down’s syndrome into the NHS maternity care pathway.Design Prospective cohort study.Setting Eight maternity units across the...

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Women's and healthcare professionals' preferences for prenatal testing: a discrete choice experiment.

This study evaluates pregnant women's and healthcare professionals' preferences regarding specific prenatal screening and diagnostic test characteristics. A discrete choice experiment was developed to assess preferences for prenatal tests that differed in seven attributes: minimal gestational age, time to test results, level of information, detection rate, false positive rate, miscarriage risk and costs. The questionnaire was completed by 596 (70.2%) pregnant women and 297 (51.7%) healthcare professionals, of whom 507 (85.1%) and 283 (95.3%), respectively, were included in further analyses as their choice behavior indicated prenatal testing was an option to them. Comparison of results showed differences in relative importance attached to attributes, further reflected by differences in willingness to trade between attributes. 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 consider level of information and miscarriage risk to be most important as well but put more emphasis on timing and accuracy. Pregnant women and healthcare professionals differ significantly in their preferences regarding prenatal test characteristics. Healthcare professionals should take these differences into consideration when counseling pregnant women on prenatal testing.