Universal Prenatal Screening Research Articles

Assessment of Aminoglycoside-Induced Hearing Loss Risk in the Perinatal Period.

This study aimed to determine the prevalence and heteroplasmy level(s) of MT-RNR1 variants m.1555A > G and m.1494C > T, which are associated with aminoglycoside-induced hearing loss, in a general perinatal population. This study also aimed to characterize the association of these variants and their heteroplasmy levels with hearing loss outcomes with and without aminoglycoside exposure. Droplet digital polymerase chain reaction was performed on 479 maternal DNA samples from a general perinatal biobank at our institution to detect the presence and heteroplasmy levels of MT-RNR1 variants m.1555A > G and m.1494C > T. Testing of paired neonatal specimen(s) was planned for positive maternal tests. A retrospective chart review was performed to characterize the population, identify aminoglycoside exposures, and determine hearing outcomes. All maternal samples tested negative for MT-RNR1 variants m.1555A > G and m.1494C > T. Maternal and neonatal subjects had high rates of aminoglycoside exposure (15.9 and 13.9%, respectively). No subjects with sensorineural or mixed hearing loss had documented aminoglycoside exposure. This study demonstrated that a larger sample size is needed to establish the prevalence of these variants as no subjects tested positive. Determination of variant prevalence in the neonatal population, association of variant heteroplasmy levels with hearing outcomes, and reliability of maternal testing as a surrogate for neonatal testing are important next steps toward universal prenatal or newborn screening. · MT-RNR1 variants are associated with aminoglycoside-induced hearing loss.. · Prevalence of MT-RNR1 variants is uncertain.. · Universal screening for MT-RNR1 variants may be indicated..

Congenital Mullerian anomalies may lead to acute life threatening emergency in reproductive age group- An experience in a tertiary care centre in Eastern India

Congenital Mullerian anomalies are associated with higher incidence of reproductive failure and adverse obstetrical outcomes. The new ESHRE classification is a precise way to describe a genital anomaly in simple way. Many genital tract anomalies lead to devastating life-threatening conditions but under-reported and poorly explained. This study aims at finding out those anomalies which more frequently lead to specific diseases needing emergency intervention to save life of the patient. This longitudinal observational study evaluates the diagnosis and treatment of 12 patients with congenital Mullerian abnormalities which led to life threatening emergency with case discussion and pictorial documentation. Among 12 women with uterine anomalies 4 abortions, 7 delivered preterm, 1 term delivery occurred. Majority of complications associated with U3 types (58.3%). Other types with complications are U4 (25%) and U2 (16.7%). Presenting features at emergency varied like mimicking ectopic, labour complications, ruptured corpus, placenta previa and accreta as well as iatrogenic perforation. Presence of congenital uterine anomalies have adverse effect on obstetrical outcome. Majority of complications are associated with U2, U3 & U4. Probably U1 doesn’t interfere with ongoing pregnancy and U5 fails to continue pregnancy. This knowledge warrants the need for a larger case control study to extrapolate these findings to the general population and also to recommend the need for universal Prenatal Screening for uterine anomalies so as to improve the obstetrical outcome in patients with uterine anomalies.

Deep-learning model for prenatal congenital heart disease screening generalizes to community setting and outperforms clinical detection.

Despite nearly universal prenatal ultrasound screening programs, congenital heart defects (CHD) are still missed, which may result in severe morbidity or even death. Deep machine learning (DL) can automate image recognition from ultrasound. The main aim of this study was to assess the performance of a previously developed DL model, trained on images from a tertiary center, using fetal ultrasound images obtained during the second-trimester standard anomaly scan in a low-risk population. A secondary aim was to compare initial screening diagnosis, which made use of live imaging at the point-of-care, with diagnosis by clinicians evaluating only stored images. All pregnancies with isolated severe CHD in the Northwestern region of The Netherlands between 2015 and 2016 with available stored images were evaluated, as well as a sample of normal fetuses' examinations from the same region and time period. We compared the accuracy of the initial clinical diagnosis (made in real time with access to live imaging) with that of the model (which had only stored imaging available) and with the performance of three blinded human experts who had access only to the stored images (like the model). We analyzed performance according to ultrasound study characteristics, such as duration and quality (scored independently by investigators), number of stored images and availability of screening views. A total of 42 normal fetuses and 66 cases of isolated CHD at birth were analyzed. Of the abnormal cases, 31 were missed and 35 were detected at the time of the clinical anatomy scan (sensitivity, 53%). Model sensitivity and specificity were 91% and 78%, respectively. Blinded human experts (n = 3) achieved mean ± SD sensitivity and specificity of 55 ± 10% (range, 47-67%) and 71 ± 13% (range, 57-83%), respectively. There was a statistically significant difference in model correctness according to expert-graded image quality (P = 0.03). The abnormal cases included 19 lesions that the model had not encountered during its training; the model's performance in these cases (16/19 correct) was not statistically significantly different from that for previously encountered lesions (P = 0.41). A previously trained DL algorithm had higher sensitivity than initial clinical assessment in detecting CHD in a cohort in which over 50% of CHD cases were initially missed clinically. Notably, the DL algorithm performed well on community-acquired images in a low-risk population, including lesions to which it had not been exposed previously. Furthermore, when both the model and blinded human experts had access to only stored images and not the full range of images available to a clinician during a live scan, the model outperformed the human experts. Together, these findings support the proposition that use of DL models can improve prenatal detection of CHD. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.

Retrospective Review of Prenatal Gonorrhea and Chlamydia Screening in Alberta: 2018–2022

A retrospective 5-year province-wide evaluation of prenatal Neisseria gonorrhoeae (GC) and Chlamydia trachomatis (CT) screening in Alberta, Canada, was carried out to assess compliance with the provincial recommendations for universal prenatal screening as a prevention for neonatal ophthalmia. Screening generally improved across the province each year, 82.1% in 2018 and reaching 87.3% in 2022. Women in the age group under 25 years were the most likely to not have the recommended first-trimester screening and demonstrated the highest prevalence of GC and CT infections. The results of this investigation demonstrate that continued improvements are needed to achieve universal prenatal GC/CT screening in Alberta.

Evaluation and comparison of risk-based and universal prenatal HCV screening programs in Alberta, Canada

Canadian clinical practice guidelines currently recommend risk-based screening for hepatitis C virus (HCV) in pregnant individuals. However, no provinces or territories have ever compared the effectiveness of risk-based versus universal screening for diagnosing prenatal HCV. We aimed to evaluate and compare HCV screening programs after implementing a universal population-level pilot program among prenatal patients in Alberta, Canada. The Alberta Prenatal Screening Program for Select Communicable Diseases was amended to include universal HCV antibody screening. Cohorts of pregnant individuals screened for HCV through risk-based or universal programs were generated over one-year periods. HCV screening rates and prevalence was analyzed and compared between cohorts to evaluate effectiveness of screening methods. Social and demographic risk factors for HCV positive individuals were compared between screening cohorts to identify which populations may be overlooked with risk-based guidelines. HCV antibody screening rates were 11.9% and 99.9% among pregnant individuals in the risk-based and universal cohorts respectively. HCV prevalence among the cohorts was 0.07% and 0.11% (difference=0.04%, p=0.032), with an average of 21 additional HCV positive pregnant individuals identified annually with universal screening. HCV positive prenatal patients diagnosed through universal screening were more likely to engage in high-risk sexual behaviours/sex work compared to those diagnosed through risk-based screening (47.6% versus 12.5%, respectively p=0.035), suggesting risk-based screening is missing these high-risk women. Universal HCV screening diagnoses significantly higher numbers of pregnant individuals infected with HCV compared to risk-based screening. Universal HCV screening or amending risk-based guidelines to incorporate more proxy variables for risk factors should be considered to improve prenatal HCV screening guidelines in Canada and help achieve HCV elimination in the next decade. Hepatitis C virus (HCV) is a bloodborne pathogen that can cause severe liver disease and be vertically transmitted from a mother to her baby during pregnancy. Pregnant individuals in Alberta are currently only tested for HCV if they disclose to their physician engagement in activities that put them at risk for acquiring the infection (risk-based screening). Using a population-wide universal prenatal HCV screening program, our work shows testing based on patient disclosed risk alone significantly underdiagnoses HCV in pregnant individuals and suggests individuals engaging in sex work or risky sexual behaviours are being overlooked with the current risk-based program. Our outcomes represent the first province-wide study to evaluate and compare prenatal HCV risk-based and universal screening programs in Canada and can be used as evidence-based data for updating prenatal HCV screening policies across the country and in similar jurisdictions.

Cost-effectiveness analysis of maternal vaccination against Group B streptococcus in Japan

BackgroundGroup B Streptococcus (GBS) is a leading pathogen causing life-threatening bacterial infections in neonates (early- or late-onset) and infants, and is associated with preterm and stillbirth. Japan introduced national guidelines to reduce early-onset neonatal GBS disease, with universal prenatal screening and intrapartum antimicrobial prophylaxis (IAP). However, screening/IAP does not prevent GBS associated late-onset disease, preterm or stillbirth. Maternal GBS vaccines in development are targeted at infant GBS disease but may provide benefit across perinatal outcomes. We aimed to assess cost-effectiveness of a future maternal GBS vaccine, for a base case prevention of infant GBS disease in combination with screening/IAP compared to screening/IAP alone. MethodsWe used a decision tree model to estimate cases of infant GBS disease, deaths, and neuro-developmental impairment (NDI), GBS-related stillbirths, and the associated costs and loss in Quality-Adjusted Life Years (QALYs). We calculate the threshold price at which a vaccine would be cost-effective assuming a cost-effectiveness threshold of ¥5 million/QALY. We explored the potential benefit of a maternal GBS vaccine that also prevents preterm birth in a scenario analysis. ResultsMaternal GBS vaccination in Japan could prevent an additional 142 infant GBS cases annually, including 5 deaths and 21 cases of NDI, and 13 stillbirths compared to screening/IAP alone. The incremental cost-effectiveness ratio (ICER) was ¥3.78 million/QALY with a vaccine cost of ¥5,000/dose. If the QALY lost for stillbirth is included, the ICER is reduced to ¥1.78 million/QALY. Median threshold vaccine price was ¥6,900 per dose (95 % uncertainty interval ¥5,100 to ¥9,200 per dose). If maternal GBS vaccination also prevented half of GBS-associated preterm, the ICER would be reduced to ¥1.88 million/QALY. ConclusionsAn effective maternal GBS vaccine is likely to be considered cost-effective in Japan at a price of ¥5,000/dose. Effectiveness against other adverse perinatal outcomes would increase health benefits and cost-effectiveness.

Universal prenatal screening: a initiative from Guanajuato, Mexico to improve equity in perinatal healthcare.

The prenatal approach from a preventive perspective is necessary to reduce perinatal complications. A perinatal care model with a holistic and horizontal approach is required. Mexico is currently considered an emerging market economy with inequality and an economic gap that impacts the accessibility and distribution of healthcare services. Guanajuato is one of the 32 states of Mexico and represents 1.6% of the country's surface. Strategies during the prenatal approach allow prediction, diagnosis, and anticipation of the principal causes of morbidity and mortality. Combining data from maternal characteristics and history with findings of biophysical and biochemical tests at 11 to 13 weeks of gestation can define the patient-specific risk for a large spectrum of complications that include miscarriage and fetal death, preterm delivery, preeclampsia, congenital disorders, and fetal growth abnormalities. We aim to describe the care model designed and implemented in the State Center for Timely Prenatal Screening of the Maternal and Child Hospital of Leon, Guanajuato, Mexico. Previous research showed there is a lack of information for low and middle-income countries regarding how to integrate prenatal screening strategies in the absence of resources to perform cell-free fetal DNA or biochemical serum markers in countries with emergent economies. This care model is carried out through horizontal processes where the screening is provided by trained and certified general practitioners who identify the population at risk in a timely manner for specialized care, and could help guide other Mexican states, and other countries with emergent economies with limited financial, professional, and infrastructural resources to improve prenatal care with a sense of equity, equality, and social inclusion as well as the timely evaluation of specialized perinatal care of high-risk patients.

Deep learning model for prenatal congenital heart disease (CHD) screening generalizes to the community setting and outperforms clinical detection.

Congenital heart defects (CHD) are still missed despite nearly universal prenatal ultrasound screening programs, which may result in severe morbidity or even death. Deep machine learning (DL) can automate image recognition from ultrasound. The aim of this study was to apply a previously developed DL model trained on images from a tertiary center, to fetal ultrasound images obtained during the second-trimester standard anomaly scan in a low-risk population. All pregnancies with isolated severe CHD in the Northwestern region of the Netherlands between 2015 and 2016 with available stored images were evaluated, as well as a sample of normal fetuses' examinations from the same region. We compared initial clinical diagnostic accuracy (made in real time), model accuracy, and performance of blinded human experts with access only to the stored images (like the model). We analyzed performance by study characteristics such as duration, quality (independently scored by study investigators), number of stored images, and availability of screening views. A total of 42 normal fetuses and 66 cases of isolated CHD at birth were analyzed. Of the abnormal cases, 31 were missed and 35 were detected at the time of the clinical anatomy scan (sensitivity 53 percent). Model sensitivity and specificity was 91 and 93 percent, respectively. Blinded human experts (n=3) achieved sensitivity and specificity of 55±10 percent (range 47-67 percent) and 71±13 percent (range 57-83 percent), respectively. There was a statistically significant difference in model correctness by expert-grader quality score (p=0.04). Abnormal cases included 19 lesions the model had not encountered in its training; the model's performance (15/19 correct) was not statistically significantly different on previously encountered vs. never before seen lesions (p=0.07). A previously trained DL algorithm out-performed human experts in detecting CHD in a cohort in which over 50 percent of CHD cases were initially missed clinically. Notably, the DL algorithm performed well on community-acquired images in a low-risk population, including lesions it had not been previously exposed to. Furthermore, when both the model and blinded human experts had access to stored images alone, the model outperformed expert humans. Together, these findings support the proposition that use of DL models can improve prenatal detection of CHD.

Substance Use Among Persons with Syphilis During Pregnancy — Arizona and Georgia, 2018–2021

Despite universal prenatal syphilis screening recommendations and availability of effective antibiotic treatment, syphilis prevalence during pregnancy and the incidence of congenital syphilis have continued to increase in the United States (1,2). Concurrent increases in methamphetamine, injection drug, and heroin use have been described in women with syphilis (3). CDC used data on births that occurred during January 1, 2018-December 31, 2021, from two states (Arizona and Georgia) that participate in the Surveillance for Emerging Threats to Pregnant People and Infants Network (SET-NET) to describe the prevalence of substance use among pregnant persons with syphilis by congenital syphilis pregnancy outcome (defined as delivery of a stillborn or live-born infant meeting the surveillance case definition for probable or confirmed congenital syphilis). The prevalence of substance use (e.g., tobacco, alcohol, cannabis, illicit use of opioids, and other illicit, nonprescription substances) in persons with a congenital syphilis pregnancy outcome (48.1%) was nearly double that among those with a noncongenital syphilis pregnancy outcome (24.6%). Persons with a congenital syphilis pregnancy outcome were six times as likely to report illicit use of opioids and four times as likely to report using other illicit, nonprescription substances during pregnancy than were persons with a noncongenital syphilis pregnancy outcome. Approximately one half of persons who used substances during pregnancy and had a congenital syphilis pregnancy outcome had late or no prenatal care. Tailored interventions should address barriers and facilitators to accessing screening and treatment for syphilis among persons who use substances. The need for syphilis screening and treatment should be addressed at any health care encounter during pregnancy, especially among persons who use substances.

Elevated HbA1c on universal prenatal screening is associated with decreased postpartum weight retention

Objective To determine the association of an elevated hemoglobin A1c (HbA1c) as part of an early pregnancy universal screening protocol and postpartum (PP) weight retention in the absence of a diagnosis of diabetes. Methods This is a retrospective cohort study of patients who underwent universal HbA1c screening with initial prenatal labs (≤16 weeks) over a 2-year period (2016–2018) at a single urban tertiary care center. An elevated HbA1c was defined as 5.7–6.4%. All patients who delivered ≥32 weeks with documented weights at first prenatal visit, delivery, and PP visit were included. Patients with preexisting or gestational diabetes, multiple gestation, fetal demise, or no glucose tolerance screening were excluded. Body mass index (BMI) was calculated and gestational weight gain was assessed by National Academy of Medicine (NAM) guidelines. The primary outcome was PP weight retention among patients with normal versus elevated HbA1c. Results 2,284 patients met inclusion criteria, of whom 2015 (88.2%) had a normal HbA1c and 269 (11.8%) had an elevated HbA1c. Compared to patients with a normal HbA1c, patients with an elevated HbA1c were more likely to be non-Hispanic black, multiparous, or publicly insured. They were also more likely to enter pregnancy obese. Patients with an elevated HbA1c gained less weight during pregnancy compared to those with normal HbA1c; however, this was no longer significant after adjusting for pre-pregnancy BMI. In both groups, almost half of patients exceeded NAM guidelines for gestational weight gain during the pregnancy. Patients with an elevated HbA1c had significantly less PP weight retention (2.2 vs. 4.5 kg, p < .001) compared to patients with a normal HbA1c. After adjusting for differences in baseline characteristics, the association between HbA1c and PP weight retention remained significant (B = −0.86, p < .003). More patients in the elevated HbA1c group returned to their pre-pregnancy weight or less by the PP visit. In all BMI categories, those who exceeded NAM guidelines had greater postpartum weight retention compared to those that met guidelines Conclusion Among patients not diagnosed with diabetes, elevated HbA1c in early pregnancy is associated with similar gestational weight gain but significantly less postpartum weight retention compared to those with normal HbA1c.

Unbalanced development and progressive repair in human early mosaic and chimeric embryos

With the advancement of genetics and genetic diagnosis, more and more human mosaics and chimeras and even unprecedented type of them have been identified. Especially in the era of universal prenatal screening, human mosaics and chimeras have often been revealed in the embryonic and fetal period with high accuracy. Although mosaicism and chimerism are abnormal in theory, some of them have no detectable effect on embryonic, fetal and postnatal growth and development and adulthood life, which increases difficulties being assessed during genetic counseling. In addition, the following intriguing observations on human mosaicism and chimerism are frequently reported. Continuous prenatal diagnoses indicate that the degree of fetal mosaicism is reduced in some subjects; Mosaicism and chimerism distribute differentially among tissues and organs of an individual; Cells with chromosomal abnormality gradually decrease or even disappear after birth, and are eventually replaced by normal cells. However, to our knowledge, we do not understand how these mosaicisaic and chimerisic phenomenon occur. Here, we propose a hypothesis of unbalanced development and progressive repair to elucidate the underlying mechanisms of these unique mosaic and chimeric phenomenon. The hypothesis is that unbalanced development and progressive repair of human mosaicism and chimerism are achieved by selective pressure and genetic control during development, clonal depletion associated with distinct apoptosis or differentiation potential and heterogoneic division and biased allocation. If this hypothesis is proven, these proposed mechanisms are of great clinical significance in the diagnosis and management of embryonic and fetal mosaicism or chimerism.

Pitfalls in the Serological Evaluation of Maternal Cytomegalovirus Infection as a Potential Cause of Fetal and Neonatal Involvements: A Narrative Literature Review.

Cytomegalovirus (CMV) is the most common cause of intrauterine infection and serological assays are the primary tools for assessing CMV infections during pregnancy. CMV-specific immunoglobulin M (IgM) antibodies have been used as a diagnostic marker for primary CMV infection in pregnant women, although CMV-IgM has been detected in non-primary CMV infections. IgG avidity testing may aid the distinguishing of primary from non-primary CMV infection; however, there is no standardized assay for detecting this difference. Moreover, when maternal serology shows positive CMV-IgG with negative CMV-IgM findings, vertical transmission probability following primary CMV infection is often excluded. However, symptomatic congenital CMV infections in the context of negative findings for maternal CMV-IgM have been reported recently. The absence of CMV-IgM is recognized in both primary and non-primary CMV infections. Furthermore, maternal non-primary CMV infections during pregnancy may yield a greater proportion of symptomatic congenital CMV infections than previously thought. If universal prenatal screening is performed, ultrasonography for abnormal fetal findings should be conducted regardless of CMV-IgM antibody status. If not universally screened, CMV antibody screening should be performed whenever routine fetal ultrasound reveals abnormal findings. For suspected fetal CMV infection, amniotic fluid or postnatal infant urine CMV-DNA testing is required.

Defer no more: advances in the treatment and prevention of chronic hepatitis C virus infection in children.

Direct-acting antiviral (DAA) regimens targeting hepatitis C virus (HCV) are now approved for young children. This review examines recent DAA experience in children, current treatment recommendations and challenges, and potential treatment-as-prevention strategies. In 2021, the US FDA extended approval of two pan-genotypic DAA regimens, glecaprevir/pibrentasvir and sofosbuvir/velpatasvir, to children as young as age 3 years based on high success rates and reassuring safety profiles in registry trials. Similar performance has been replicated with real-world DAA use in thousands of adolescents and in limited reports of children with high-risk conditions, including cirrhosis, cancer, thalassemia and HIV-coinfection. Treatment without delay is now recommended in the USA for viremic children aged 3 years and up to prevent disease progression and future spread. To date, treatment expansion is limited by high rates of undiagnosed paediatric infection. Universal prenatal screening will aid identification of perinatally exposed newborns, but new strategies are needed to boost testing of exposed infants and at-risk adolescents. Postpartum treatment programmes can prevent subsequent vertical transmission but are hampered by low rates of linkage to care and treatment completion. These challenges may be avoided by DAA use in pregnancy, and this warrants continued study. Paediatric HCV is now readily curable. Substantial clinical and public health effort is required to ensure widespread uptake of this therapeutic breakthrough.

Screening and diagnostic imaging at centres performing congenital heart surgery in middle-income countries.

Surgical care for CHD is increasingly available in low- and middle-income countries, and efforts to optimise outcomes are growing. This study characterises cardiac imaging and prenatal diagnosis infrastructure in this setting. An infrastructure survey was administered to sites participating in the International Quality Improvement Collaborative for CHD. Questions regarding transthoracic, transesophageal and epicardial echocardiography, cardiac CT, cardiac magnetic resonance, prenatal screening and fetal echocardiography were included. Associations with in-hospital and 30-day mortality were assessed. Thirty-seven sites in 17 countries responded. Programme size and geography varied considerably: < 250 cases (n = 13), 250-500 cases (n = 9), > 500 cases (n = 15); Americas (n = 13), Asia (n = 18), and Eastern Europe (n = 6). All had access to transthoracic echo. Most reported transesophageal and epicardial echocardiography availability (86 and 89%, respectively). Most (81%) had cardiac CT, but only 54% had cardiac magnetic resonance. A third reported impediments to imaging, including lack of portable machines, age/size-appropriate equipment and advanced cardiac imaging access and training. Only 19% of centres reported universal prenatal CHD screening in their catchment area, and only 46% always performed fetal echocardiography if screening raised concern for CHD. No statistically significant associations were identified between imaging modality availability and surgical outcomes. Although access to echocardiography is available in most middle-income countries; advanced imaging modalities (cardiac CT and magnetic resonance) are not always accessible. Prenatal screening for CHD is low, and availability of fetal echocardiography is limited. Imaging infrastructure in low- and middle-income countries and associations with outcomes merits additional study.

Leveraging Quality Improvement to Promote Health Equity: Prenatal Aspirin Recommendations by Race [A303

INTRODUCTION: Black patients are disproportionately affected by preeclampsia and associated morbidity and mortality. Aspirin (ASA) reduces these risks and the United States Preventative Services Task Force (USPSTF) recommends ASA for pregnant patients at moderate to high risk for preeclampsia. We aimed to assess whether a quality-improvement intervention to standardize ASA screening and prescription resulted in similar rates of indicated ASA recommendations for patients who self-identified as Black versus non-Black. METHODS: Using a quality-improvement framework, we implemented universal prenatal screening according to the USPSTF recommendations for ASA to prevent preeclampsia. We analyzed 201 new OB (NOB) visits pre-intervention and 199 NOB visits 3 months post-intervention. Nurses utilized a checklist created from USPSTF guidelines to identify high-risk patients, defined as having 1 or more high-risk factor or 2 or more moderate-risk factors. ASA orders were signed by physicians. Results were stratified by self-identified Black versus non-Black race. RESULTS: Pre-intervention, 88% of Black patients met criteria, and 29% of those patients correctly received a recommendation for ASA. Among non-Black patients, 41% met criteria for ASA, and 27% of those patients a recommendation. Post-intervention, 93% and 41% of Black and non-Black patients met criteria, respectively, with 80% and 79% of those patients, respectively, receiving the recommendation. CONCLUSION: A strikingly high percentage of Black patients warrant a recommendation for ASA to reduce preeclampsia risk, as per USPSTF guidelines. Our standardized approach to prenatal screening and prescribing of ASA resulted in similar rates of correct prescriptions for ASA in Black and non-Black patients, suggesting a mechanism for delivering equitable preventative obstetric care.

Streamlining Universal Prenatal Screening for Risk for Adverse Birth Outcomes.

Many of the medical risk factors for adverse birth outcomes (e.g., preeclampsia) are regularly monitored in prenatal care. However, many of the psychosocial risk factors associated with adverse birth outcomes (e.g., maternal stress, anxiety, depression, intimate partner violence) are not regularly addressed during routine prenatal care. Comprehensive prenatal screening for psychosocial risk factors for adverse birth outcomes can improve maternal and neonatal outcomes. In this study, we examine an existing tool for opportunities to streamline and improve screening. We reviewed medical records for 528 mother-infant dyads, recording maternal responses to a 21-item prenatal risk screening tool, and gestational age/birth weight of infants. Multiple approaches to scoring were used to predict likelihood of adverse birth outcome. Women who answered yes to any of the top four interrelated items were 3.32 times more likely to have an adverse birth outcome. Sensitivity and specificity were 68% and 65%, respectively. We identified a short surveillance tool to identify women who are at highest risk and require more in-depth screening, and to rule out women who are at very low risk of an adverse birth outcome.

Clinical Phenotypes of Cystic Fibrosis Carriers.

Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in CFTR, the cystic fibrosis transmembrane conductance regulator gene. People with CF experience a wide variety of medical conditions that affect the pulmonary, endocrine, gastrointestinal, pancreatic, biliary, and reproductive systems. Traditionally, CF carriers, with one defective copy of CFTR, were not thought to be at risk for CF-associated diseases. However, an emerging body of literature suggests that heterozygotes are at increased risk for many of the same conditions as homozygotes. For example, heterozygotes appear to be at increased risk for chronic pancreatitis, atypical mycobacterial infections, and bronchiectasis. In the United States alone, there are almost 10 million CF carriers. Universal newborn screening and prenatal genetic screening will identify more. Thus, there is a critical need to develop more precise estimates of health risks attributable to the CF carrier state across the lifespan.

Universal screening for substance use disorder in pregnancy: what are we missing?

Current guidelines recommend universal prenatal screening to assess for pregnancies affected by substance use disorder (SUDP). The best screening method is unclear. We aimed to evaluate the efficacy of prenatal screening methods for SUDP at a single tertiary care center, specifically the characteristics of cases of SUDP that were not identified correctly during prenatal care.

Correction to “Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada”

CMAJ has been made aware of an error that occurred in the Aug. 3, 2021, issue.[1][1] In Figure 3, the number of pregnant people in Ontario who underwent first-tier cell-free fetal DNA screening should have been 5750, not 575. This has been corrected at [cmaj.ca][2]. 1. [↵][3]1. Dougan SD

Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada.

BACKGROUND:The emergence of cell-free fetal DNA (cfDNA) testing technology has disrupted the landscape of prenatal screening for trisomies 21 (T21) and 18 (T18). Publicly funded systems around the world are grappling with how to best integrate this more accurate but costly technology, as there is limited evidence about its incremental value in real-world conditions. The objectives of this study were to describe the population-based performance of Ontario’s prenatal screening program, which incorporates publicly funded cfDNA screening for specific indications, and the effect of cfDNA testing on the screening and diagnostic choices made by pregnant people.METHODS:We conducted a retrospective, descriptive cohort study using routinely collected data from Better Outcomes & Registry Network (BORN) Ontario, which captures linked population data for prenatal and neonatal health encounters across Ontario. We included all singleton pregnancies with an estimated due date between Sept. 1, 2016, and Mar. 31, 2019, that underwent publicly funded prenatal screening in Ontario, and a comparison cohort from Apr. 1, 2012, and Mar. 31, 2013. We assessed performance of the screening program for the detection of T21 or T18 by calculating sensitivity, specificity, positive predictive value and negative predictive value against diagnostic cytogenetic results or birth outcomes. We assessed the impact of the program by calculating the proportion of T21 screen-positive pregnancies undergoing subsequent cfDNA screening and invasive prenatal diagnostic testing.RESULTS:The study cohort included 373 682 pregnancies. The prenatal screening program had an uptake of 69.9%, a screen-positive rate and sensitivity of 1.6% and 89.9% for T21, and 0.2% and 80.5% for T18, respectively. The test failure rate for cfDNA screening was 2.2%. Invasive prenatal diagnostic testing decreased from 4.4% in 2012–2013 to 2.4% over the study period; 65.2% of pregnant people who received a screen-positive result from cfDNA testing went on to have invasive prenatal diagnostic testing.INTERPRETATION:This publicly funded screening program, incorporating cfDNA analysis for common aneuploidies, showed robust performance, a substantial reduction in invasive prenatal diagnostic testing and that pregnant people exercise autonomy in their choices about prenatal screening and diagnosis.