Prenatal Setting Research Articles

Challenges in variant interpretation in prenatal exome sequencing

The use of exome sequencing (ES) in the prenatal setting improves the diagnostic yield of genetic testing for fetuses with ultrasound anomalies. However, while the purpose of ES is to explain the fetal phenotype, secondary or incidental findings unrelated to the observed abnormalities might be detected. Recently, requests for ES in fetuses with no sonographic abnormalities have been increasing, raising serious ethical and medico-legal concerns. Variant interpretation is complex even in the postnatal setting and performing broad genomic data analyses in the prenatal setting presents additional dilemmas. This article discusses challenges and questions related to prenatal ES, including variant interpretation of incidental findings in cases of indicated prenatal ES, as well as in situations where ES is performed in asymptomatic fetuses.

Healthy for Two/Healthy for You: Design and methods for a pragmatic randomized clinical trial to limit gestational weight gain and prevent obesity in the prenatal care setting

ObjectiveTo compare the effect of Healthy for Two/Healthy for You (H42/H4U), a health coaching program, in prenatal care clinics that serve a racially and economically diverse population, on total gestational weight gain (GWG) (vs. usual care). We hypothesize that compared to usual prenatal care, intervention participants will have lower GWG and lower rates of gestational diabetes mellitus (GDM). MethodsWe report the rationale and design of a pragmatic, parallel arm randomized clinical trial with 380 pregnant patients ≤15 weeks gestation with overweight or obesity from one of 6 academic and community-based obstetrics practices, randomized to either H42/H4U or usual prenatal care in a 1:1 ratio. The study duration is early pregnancy to 6 months postpartum. The primary outcome is total GWG, calculated as the difference between first clinic-assessed pregnancy weight and the weight at 37 weeks gestation. Key maternal and infant secondary outcomes include GDM incidence, weight retention at 6 months postpartum, infant weight, maternal health behaviors and wellness. ConclusionsThis pragmatic clinical trial embeds a pregnancy health coaching program into prenatal care to allow parallel testing compared to usual prenatal care on the outcome of total GWG. The real-world design provides an approach to enhance its sustainability beyond the trial to ultimately improve maternal/child health outcomes and reduce future obesity. Trial registrationThe study was first registered at clinicaltrials.gov on 1/26/21 (NCT04724330).

Increases in Intimate Partner Violence During COVID-19: Prevalence and Correlates.

Measures to contain the global COVID-19 pandemic led to stay-at-home orders across the world, accompanied by fears of a global surge in intimate partner violence (IPV). We administered an online general-population survey to 1169 women and transgender/nonbinary individuals throughout the state of Michigan in June–August 2020 to assess changes in the prevalence, severity, and correlates of IPV during the COVID-19 pandemic. Quota sampling was used to match the racial/ethnic and urban/rural distribution of the state. More than one in seven (15.1%) participants reported physical, sexual, psychological, or technology-facilitated IPV since COVID, similar to the prevalence in the 3 months before COVID (16.2%). However, there were indications that IPV severity increased and that novel cases of IPV are occurring in relationships that previously had no abuse. A majority (64.2%) of individuals who experienced IPV since COVID reported that the IPV was new to the relationship (34.1%) or of increased severity during COVID-19 (26.6%), representing 9.7% of the overall sample. New or increased IPV was significantly more prevalent among those who were essential workers, pregnant, unable to afford rent, unemployed/underemployed or had recent changes to their job, had partners with recent changes to employment, and those who had gotten tested or tested positive for COVID-19. Urban residence, trans/nonbinary identity, and having a toddler were more strongly associated with IPV during COVID as compared to before COVID. While findings do not support significant changes in the overall prevalence of IPV, the majority of survivors reported incident IPV in relationships that had not previously been abusive, or IPV that became more severe since the start of the pandemic. Cases of new or increased IPV were more concentrated in marginalized groups. Potential touchpoints for outreach and services during future lockdowns include prenatal and pediatric settings, daycares, employers of essential workers, and COVID-19 testing centers. Policies providing rental, childcare, and unemployment support may mitigate increases in IPV during COVID-19.

Prenatal Diagnosis of a Lethal Skeletal Dysplasia.

Prenatal Diagnosis of a Lethal Skeletal Dysplasia.

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic diagnostics with variable diagnostic yields. In this study, we aimed to determine the diagnostic yield of trio-ES in detecting the cause of fetal abnormalities within a highly consanguineous population. In families with a history of congenital anomalies, a total of 119 fetuses with structural anomalies were recruited and DNA from invasive samples were used together with parental DNA samples for trio-ES and CMA. Data were analysed to determine possible underlying genetic disorders associated with observed fetal phenotypes. The cohort had a known consanguinity of 81%. Trio-ES led to diagnostic molecular genetic findings in 59 fetuses (with pathogenic/likely pathogenic variants) most with multisystem or renal abnormalities. CMA detected chromosomal abnormalities compatible with the fetal phenotype in another 7 cases. Monogenic ciliopathy disorders with an autosomal recessive inheritance were the predominant cause of multisystem fetal anomalies (24/59 cases, 40.7%) with loss of function variants representing the vast majority of molecular genetic abnormalities. Heterozygous de novo pathogenic variants were found in four fetuses. A total of 23 novel variants predicted to be associated with the phenotype were detected. Prenatal trio-ES and CMA detected likely causative molecular genetic defects in a total of 55% of families with fetal anomalies confirming the diagnostic utility of trio-ES and CMA as first-line genetic test in the prenatal diagnosis of multisystem fetal anomalies including ciliopathy syndromes.

Asking About Childhood Adversity in the Prenatal Care Setting: Cross-Sectional Associations with Maternal Health and Mental Health Outcomes.

Adverse childhood experiences (ACEs) are associated with poor physical and mental health outcomes in pregnancy, prompting many care agencies to ask about ACEs as part of routine care. However, limited research has been conducted in the clinical setting to demonstrate associations between ACEs and maternal health (i.e., pregnancy complications and birth outcomes) and mental health in pregnancy (i.e., depression, anxiety, and substance use). The aims of the current study were to: (1) examine the prevalence of ACEs reported by patients attending a maternity clinic for medically low-risk patients, and (2) evaluate whether these reports were associated with prenatal health and mental health. Participants included pregnant women (n = 338) receiving prenatal care at a low-risk outpatient medical clinical from June 2017 to December 2018. Total ACE scores, pregnancy complications (e.g., gestational hypertension, preeclampsia), birth outcomes (e.g., Apgar scores, preterm birth), and mental health outcomes (i.e., anxiety, depression, and substance use) were extracted from electronic medical records. The majority of women (67.8%) reported experiencing no ACEs, 16.0% reported one ACE, 10.1% reported two ACEs, and 6.2% reported three or more ACEs. ACEs were associated with increased odds of prenatal depression, anxiety, and substance use in a dose-response fashion, but not pregnancy health or birth outcomes. Prevalence rates of maternal ACEs obtained in the prenatal care setting were low compared to the general population. While ACEs were positively associated with maternal mental health and substance use in pregnancy, they were not associated with pregnancy complications.

Maternal-Child Health Outcomes from Pre- to Post-Implementation of a Trauma-Informed Care Initiative in the Prenatal Care Setting: A Retrospective Study.

Background: There has been an increase in use of trauma-informed care (TIC) approaches, which can include screening for maternal Adverse Childhood Experiences (ACEs) during prenatal care. However, there is a paucity of research showing that TIC approaches are associated with improvements in maternal or offspring health outcomes. Using retrospective file review, the current study evaluated whether differences in pregnancy health and infant birth outcomes were observed from before to after the implementation of a TIC approach in a low-risk maternity clinic, serving women of low medical risk. Methods: Demographic and health data were extracted from the medical records of 601 women (n = 338 TIC care, n = 263 pre-TIC initiative) who received prenatal care at a low-risk maternity clinic. Cumulative risk scores for maternal pregnancy health and infant birth outcomes were completed by health professionals. Results: Using independent chi-squared tests, the proportion of women without pregnancy health risks did not differ for women from before to after the implementation of TIC, χ2 (2, 601) = 3.75, p = 0.15. Infants of mothers who received TIC were less likely to have a health risk at birth, χ2 (2, 519) = 6.17, p = 0.046. Conclusion: A TIC approach conveyed modest benefits for infant outcomes, but not maternal health in pregnancy. Future research examining other potential benefits of TIC approaches are needed including among women of high socio-demographic and medical risk.

Implementation of a Risk-Factor Screening Tool for Early Detection of Postpartum Depression in the Prenatal Setting

The purpose of the practice improvement project was to increase early identification (in the prenatal setting) of pregnant women who are at risk for developing postpartum depression (PPD). The project setting was a large, obstetrics and gynecology physician’s office in a southeastern U.S. state. Health care providers at this practice office did not routinely screen for PPD, and no screening tool was used.

Differences between influenza and pertussis vaccination uptake in pregnancy: a multi-center survey study in Italy.

A suboptimal maternal vaccination coverage in 2017-18 has been reported in Italy. The study aims were to (i) assess changes in maternal influenza and tetanus, diphtheria and acellular pertussis vaccination coverage during 2018-19 influenza season compared to the previous season (ii) estimate influenza vaccine coverage among maternal care providers (MCPs) and (iii) explore the characteristics of vaccine delivery to pregnant women. We conducted a cross-sectional survey among pregnant women and MCPs about influenza and pertussis immunization during pregnancy. We also collected information regarding prenatal care characteristics and vaccine delivery among four centers in Italy. We recruited 483 pregnant women and 452 MCPs. The influenza and pertussis vaccine uptake among pregnant women for the season 2018-19 was 14.9% and 60.9%, respectively. MCPs' influenza vaccine uptake was 33.6%. Knowing that the flu vaccine was safe for mothers and their infants and being vaccinated in the previous influenza season were associated with higher vaccine uptake. Regarding pertussis, being a housewife was associated to lower vaccine uptake, while knowing the vaccine is effective and safe for mothers and newborns were associated with higher pertussis vaccine uptake. The single most important factor associated to higher coverage of both influenza and pertussis vaccines was receiving a health-care provider's vaccine advice. Most pregnant women (69.4%) stated that they preferred to be vaccinated in their same prenatal care setting. Receiving a health-care provider's vaccine advice and the availability of vaccines during prenatal care visits might improve vaccination coverage among pregnant women.

A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies.

BackgroundIntroduction of cell‐free fetal DNA (cff‐DNA) testing in maternal blood opened possibilities to improve the performance of combined first‐trimester screening (cFTS) in terms of better detection of trisomies and lowering invasive testing rate. The use of new molecular methods, such as chromosomal microarray analysis (CMA) and next‐generation sequencing (NGS), has shown benefits in prenatal diagnosis of chromosomal and genetic diseases, which are not detectable with cff‐DNA screening, but require an invasive procedure.MethodsThe objective of this study was to evaluate prospectively during two years performance of CMA and NGS in high‐risk pregnancies. Initially, we investigated 14,566 singleton pregnancies with cFTS. A total of 334 high‐risk pregnancies were selected for CMA diagnostic performance evaluation and 28 cases of highly dysmorphic fetuses for NGS analysis. CMA study group was divided into two groups based on the indications for testing; group A patients with high‐risk for trisomies after cFTS, but normal ultrasound and group B patients who met criteria for CMA as a first‐tier diagnostic test.ResultsThe diagnostic yield of CMA was overall 3.6% (1.6% in Group A and 6.0% in Group B). In NGS analysis group, we report diagnostic yield of 17.9%.ConclusionThe use of CMA in high‐risk pregnancies is justified and provides relevant clinical information in 3.6% of the cases. NGS analysis in fetuses with multiple anomalies shows promising results, but more investigations are needed for a better understanding of practical applications of this molecular diagnosis method in prenatal settings.

Does screening for maternal ACEs in prenatal care predict pregnancy health risk above and beyond demographic and routine mental health screening?

BackgroundAdverse childhood experiences (ACEs), including abuse, neglect, and/or household dysfunction, are associated with physical and mental health difficulties in pregnancy and the postpartum period. These associations have prompted the adoption of screening for ACEs in prenatal care settings; however, little is known about whether asking about ACEs in the prenatal care context is additive to other forms of routine prenatal demographic and mental health screening. ObjectiveTo identify whether ACEs are predictive of cumulative pregnancy health risk and identify whether ACEs predict maternal health risks in pregnancy above and beyond screening for financial stress, depression, and anxiety. Participants and settingThe electronic medical records of three hundred and thirty-eight patients who accessed prenatal care at a low-risk primary care maternity clinic were included. MethodsWomen retrospectively self-reported their ACEs during their second prenatal primary care visit (~20 weeks' gestation) and reported financial stress as well as their depressive and anxious symptoms using the PHQ-2 and GAD-2. Health risk factors and complications were documented by healthcare providers in the files at birth. Approximately 32% of patients reported at least one ACE. ResultsRegression analyses revealed that after accounting for financial stress, neither depression nor anxiety predicted cumulative health risk in the antenatal period. ACEs significantly predicted cumulative health risk (B = 0.14, p = .02) and an additional 1.7% of variance in the outcome. However, the model only accounted for 5.0% of the variance in cumulative health risk. ConclusionsThe total health risk predicted by demographic and ACEs screening is modest in this low-risk sample. Additional research on the implications of broader trauma-informed approaches is needed to evaluate their impact.

P–558 SNP array versus karyotype for prenatal diagnosis in fetuses with abnormal ultrasound: a systematic review and meta-analysis

Abstract Study question Does Single nucleotide polymorphism (SNP) array provide a diagnostic advantage over conventional karyotype in prenatal diagnosis for fetuses with an abnormal ultrasound? Summary answer SNP array in the prenatal setting provides an incremental diagnostic yield over karyotype and the diagnostic accuracy is comparable with combined SNP array and karyotype What is known already Single nucleotide polymorphism and comparative genomic hybridization based arrays (aCGH) are the two chromosomal microarray (CMA) platforms available. Guidelines which recommend offering CMA instead of karyotyping for prenatal diagnosis are mainly based on studies that compared aCGH with karyotype. There is a paucity of reviews that critically appraise the role of SNP array as a prenatal diagnostic tool. We decided to estimate the incremental yield of SNP array over karyotype in detecting chromosomal abnormalities, and to determine the diagnostic accuracy of SNP alone compared with SNP array and karyotype in combination for prenatal diagnosis in fetuses with an abnormal ultrasound. Study design, size, duration We conducted a systematic review of studies comparing SNP array with karyotype for prenatal diagnosis in fetuses with an abnormal ultrasound. We performed a literature search in the electronic databases of EMBASE, PubMed, CENTRAL, CDSR, SCOPUS and Web of science for relevant studies published in the English language between January1996 and May 2020. We also hand searched the referenced list of included studies and performed a google search for grey literature to identify potential studies. Participants/materials, setting, methods The study population was women undergoing prenatal diagnosis for abnormal fetal ultrasound. Studies in which SNP array and karyotyping had been used in fetuses with abnormal ultrasound and which allowed for a 2 x 2 data extraction table were included. We estimated the incremental yields for SNP array over karyotype. For determining the diagnostic accuracy, we considered SNP array alone as the index test and combined karyotype & SNP array as the reference standard. Main results and the role of chance We included six studies for quantitative analysis. After pooling results, incremental yield of SNP array over normal karyotype was 10% (95% confidence interval, CI 4 to 16%) in fetuses with abnormal ultrasound while incremental yield of karyotype over SNP array was 1% (95% CI 0 to 2%). The agreement between SNP array and karyotype was 92%. Variant of uncertain significance (VUS) rates ranged from 4–8%. For SNP array alone versus combined SNP array and conventional karyotype, pooled sensitivity and specificity was 0.96 (95% CI 0.91 to 0.99) and 1.00 (95% CI 0.99 to 1.00) respectively. The Area under curve (AUC) was 0.99 indicating the discriminating ability of the SNP array was very high to identify the fetus with chromosomal abnormalities. Limitations, reasons for caution Only studies published in English were included. There was some degree of heterogeneity in inclusion criteria for the included studies. Wider implications of the findings: The current study suggests SNP array alone can replace conventional karyotype for prenatal diagnosis in fetus with an abnormal ultrasound. Limitations to adoption of SNP testing might include the requirement of requisite expertise to interpret the results and counsel patients appropriately, especially with the propensity of SNPs to identify VUS. Trial registration number Not applicable

Project Inclusive Genetics: Exploring the impact of patient-centered counseling training on physical disability bias in the prenatal setting.

PurposeThere is robust research examining the negative impact of racial and socioeconomic implicit bias on healthcare provider clinical decision-making. However, other under-studied important biases are likely to impact clinical care as well. The goal of this study was to explore the presence of bias against people with physical disability among a heterogeneous group of healthcare workers and trainees and to evaluate the effect of implicit association testing and an educational module on this bias.MethodThe study was composed of a one-hour web-based survey and educational module. The survey included an explicit disability bias assessment, disability Implicit Association Tests (IATs), demographic collection, and pre- and post- module clinical vignettes of prenatal patient scenarios. In addition to providing counseling to hypothetical patients, participants also indicated their personal preferences on genetic testing and termination. The educational module focused on the principles of patient-centered counseling.ResultsThe collected data reflects responses from 335 participants. Within this sample, there were both explicit and implicit biases towards individuals with physical disabilities. Prior to the IAT and educational module, when respondents were tasked with providing genetic testing recommendations, implicit biases and personal preferences for genetic testing and termination influenced respondents’ clinical recommendations. Importantly, having previous professional experience with individuals with disabilities diminished biased clinical recommendations prior to the intervention. In response to the IAT and educational intervention, the effect of implicit bias and personal preferences on clinical recommendations decreased.ConclusionsThis study demonstrates how bias against a marginalized group exists within the medical community and that personal opinions can impact clinical counseling. Importantly, our findings suggest that there are strategies that can be easily implemented into curricula to address disability bias, including formal educational interventions and the addition of professional experiences into healthcare professional training programs.

Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction.

Sequencing cell-free DNA now allows detection of large chromosomal abnormalities and dominant Mendelian disorders in the prenatal period. Improving upon these methods would allow newborn screening programs to begin with prenatal genetics, ultimately improving the management of rare genetic disorders. As a pilot study, we performed exome sequencing on the cell-free DNA from three mothers with singleton pregnancies to assess the viability of broad sequencing modalities in a noninvasive prenatal setting. We found poor resolution of maternal and fetal genotypes due to both sampling and technical issues. We find broad sequencing modalities inefficient for noninvasive prenatal applications. Alternatively, we suggest a more targeted path forward for noninvasive prenatal genotyping.

Vasectomy interest and awareness among patients and their partners in prenatal clinics in the United States

ObjectiveAlthough vasectomy is safer, more effective and less expensive than tubal ligation, rates of permanent contraception are consistently higher in women than in men. We sought to explore vasectomy interest...

Impact of Adverse Childhood Experiences on the Mother-Infant Social-Emotional Well-Being in Low- and Middle-Income Countries

The “Ghosts in the Nursery” metaphor demonstrates how the impact of parental adverse childhood experiences (ACEs) persist across the lifespan and confers risk to the psychosocial development of subsequent generations. Mothers in low- and middle-income countries (LMICs) suffer increased vulnerability to ACEs because of complex biological, psychological, economic, social, and environmental risk factors, which, in turn, prevent children from attaining their developmental potential. This article reviews the evidence of maternal ACEs' impact on child social and emotional developmental outcomes in LMICs as well as possible psychological and neurobiological mechanisms for intergenerational transmission of ACEs. Clinical implications of elucidating the association between ACEs and subsequent sequelae on child development highlights the need to screen for maternal ACEs in prenatal and pediatric settings. A main emphasis of this article is to promote child mental health prevention intervention by focusing on addressing maternal ACEs and by helping caregivers to be “Angels in the Nursery.” Angels in the Nursery are characterized by care-receiving experiences that provide the child with a core sense of self-worth and security that can be drawn upon when the child becomes a parent to interrupt the cycle of maltreatment and thus effectively promote child mental health. [ Psychiatr Ann . 2021;51(7):316–321.]

Heterogeneity in prenatal substance use screening despite universal screening recommendations: findings from the Pregnancy Risk Assessment Monitoring System, 2016–2018

The American College of Obstetricians and Gynecologists recommends universal screening for tobacco, alcohol, and drug use as a part of routine prenatal care. However, little is known about the prevalence of prenatal substance use screening or factors that may contribute to differential rates of screening during prenatal care. This study aimed to describe the prevalence of prenatal substance use screening by substance, year, state, and state-level prenatal substance use policies and to examine individual-level factors associated with receipt of screening. We analyzed 2016 to 2018 data from 103,608 women participating in the Pregnancy Risk Assessment Monitoring System, a population-based survey among women with recent live births. The Pregnancy Risk Assessment Monitoring System survey sampling weights were applied to all analyses. We described the percentage of individuals asked by a healthcare worker about substance use during a prenatal care appointment by substance, year, and state. Using chi-squared tests, we examined differences in the prevalence of screening by state-level prenatal substance use policies, including policies regarding classification of prenatal substance use as child abuse or neglect, mandatory testing or reporting of prenatal substance use, and targeted treatment funding and access for pregnant individuals with substance use disorders. Finally, we estimated the association between individual-level characteristics and receipt of prenatal substance use screening using logistic regression, controlling for year and state fixed effects and accounting for missingness using multiple imputation. In 2018, approximately 95% individuals reported being asked about cigarette or alcohol use during a prenatal care appointment, whereas only 80% reported being asked about drug use. The percentage of individuals who were asked about substance use during a prenatal care appointment increased overall between 2016 and 2018, with variability across states. For all substances, states with laws designating prenatal drug use as child abuse or neglect had lower prevalence of screening, whereas states with laws mandating providers to test for substance use in pregnancy had higher prevalence of screening. Several individual-level characteristics were associated with increased odds of reported prenatal substance use screening for one or more substances, including being younger, less educated, unmarried, Black (vs White), non-Hispanic, or publicly insured (vs privately insured), receiving adequate prenatal care, and having a history of prepregnancy cigarette use. Our study finds that despite recommendations for universal prenatal substance use screening, there are differences in who is actually asked about substance use during prenatal care appointments. This may be influenced by state-level prenatal substance use policies and selective screening approaches in which certain individuals are more likely to be asked about substance use during their prenatal care appointment. A better understanding of the repercussions of selective screening approaches on outcomes and the roles that policies, systems, and provider biases play in perpetuating these approaches is needed to advance guideline implementation efforts in prenatal care settings.

Preference for secondary findings in prenatal and pediatric exome sequencing.

We aimed to determine the frequency of accepting secondary findings in families undergoing exome sequencing in prenatal and pediatric settings. This was a secondary analysis of prospectively enrolled patients undergoing trio exome sequencing for congenital anomalies or developmental disorders in prenatal and pediatric settings, in which families were offered receiving secondary findings (initially assessed in the proband and, if identified, then in the parents). The primary outcome was frequency of accepting secondary findings. Secondary outcomes included frequency of acceptance in prenatal versus pediatric settings, and sociodemographic differences between those who accepted versus declined secondary findings. There were 682 families included in the cohort (289 prenatal and 393 pediatric). Overall, 84% (576/682) of families accepted secondary findings: 86.2% (249/289) of families undergoing prenatal versus 83.2% (327/393) pediatric (p=0.30) testing. Secondary findings were identified in 2.6% (15/576) of cases, with no difference between prenatal and pediatric settings. There were no differences in sociodemographics between families that accepted versus declined secondary findings. The majority of families undergoing exome sequencing accepted secondary findings; this did not differ in prenatal versus pediatric settings. This highlights the need for guidance surrounding the offer of secondary findings in the prenatal setting.

Defining and Reporting on Critical Values in Genetics: A Laboratory Survey.

Although an obvious critical value in metabolic genetics would be ammonia, it is more challenging to define critical values in molecular genetics and cytogenetics. The objective of this study was to survey genetic laboratories in Ontario, Canada, to determine whether different centers considered similar results as critical and thus potentially deserving of a different reporting process. An online 11-question survey was emailed to Ontario laboratory directors, and the results were analyzed. The response rate was 82% (9/11). Cytogenetics and molecular genetics services were each provided by 7 of the 9 centers, with 3 centers providing biochemical/metabolic genetics services and 1 providing maternal marker serum screening services. The case type (e.g., prenatal, newborn, or expedited by the ordering physician) was one factor. Quantitative fluorescence PCR for autosomal aneuploidy, pathogenic variants in both prenatal and postnatal settings, and oncological results were considered critical cytogenetics results. Pathogenic prenatal cases, indeterminate results, and unexpected results were considered more critical for molecular genetics. Critical results were more likely to prompt a telephone call or email to the ordering physician. Ontario genetics laboratories tended to have similar reporting processes for critical results. Both the types of cases and the pathogenicity of the result define what values are considered critical.

Evaluation of a prenatal screening decision aid: A mixed methods pilot study

BackgroundWe developed a decision aid (DA) to help pregnant women and their partners make informed decisions about prenatal screening for trisomy. We aimed to determine its usefulness for preparing for decision-making and its acceptability among end-users. MethodsIn this mixed-methods pilot study, we recruited participants in three prenatal care settings in Quebec City. Eligible women were over 18 and more than 16 weeks pregnant or had given birth recently. We asked them about the usefulness of the DA using an interview grid based on the Technology Acceptance Model. We performed descriptive statistics and deductive analysis. ResultsThirty-nine dyads or individuals participated in the study. Mean usefulness score was 86.2 ± 13. Most participants found the amount of information in the DA just right (79.5%), balanced (89.7%), and very useful (61.5%). They were less satisfied with the presentation and the values worksheet and suggested different values clarification methods. ConclusionRigorous pilot tests of DAs with patients are an important stage in their development before the more formal assessments that precede scaling up the DA in clinical practice. Practice implicationsThe next version of the DA will integrate the suggestions of end-users for better decision-making processes about prenatal screening for trisomy.