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As part of the national screening programme, fetal anomaly screening is offered by the NHS to all women expecting a baby in the UK. The identification of suspected fetal anomalies causes stress and anxiety in the expectant parents. Therefore, a thorough understanding of the issues as described can help alleviate this to a degree. This problem-based review presents two case histories describing issues encountered during first and second trimester screening, and principles behind subsequent management. [ABSTRACT FROM AUTHOR]

Background: Screening of pregnant women carrying human T-lymphotropic virus type 1 (HTLV-1) has a crucial role in reducing the number of HTLV-1 carriers. A national HTLV-1 screening program for pregnant women was started in 2011 in Japan. The purpose of this study is to report on the implementation of this nationwide screening program.Methods: This was a retrospective repeated cross-sectional study. We used datasets from surveys of HTLV-1-antibody-positive pregnant women performed by the Japan Association of Obstetricians and Gynecologists in 2011, 2013, and 2016. Outcomes for evaluation included the number of persons (pregnant women) who conducted the screening test, the number of positive persons (women) identified by these tests, and the proportion of positive persons to the number of persons (women) who conducted the tests.Results: Numbers of target facilities changed yearly: 1857 in 2011, 2544 in 2013, and 2376 in 2016. The mean number of screening-test participants increased per facility, but the median increased or decreased. The mean number of positive individuals identified decreased. Multivariate analysis results revealed the number of screenings was slightly reduced yearly, although areas (Kanto and Kinki) and high volume in facility types increased. Regarding the positive rates, some areas (Hokkaido/Tohoku, Kanto, and Chugoku/Shikoku) exhibited decreases or increases by facility type. The number of western blotting (WB) implementations decreased in 2016, positive rates identified by WB decreased in 2016 in all areas, and the number of facility types increased. The number of PCR participants increased in 2016 in Kanto and Kinki, but a decrease in facility type was observed. Positive rates were decreased in all areas (except the central region) but facility types were increased.Conclusions: The nationwide screening program for HTLV-1 in Japan was almost fully implemented. However, regional variations in screening tests were observed during this implementation. Thus, some incentives are needed to encourage proper implementation across all regions. [ABSTRACT FROM AUTHOR]

Aim: To demonstrate the effect of the Syrian refugee population on the prevalence of congenital TORCH (Toxoplasmosis, Other [syphilis, varicella‐zoster, parvovirus B19], Rubella, Cytomegalovirus [CMV] and Herpes) infections and to evaluate the cost‐effectiveness of population‐based TORCH screening during pregnancy in Turkey. Methods: Pregnant women (n = 9754) were enrolled. Ultrasonographic findings, immunoglobulin (Ig)M and IgG seropositivity, avidity, amniocentesis and DNA‐polymerase chain reaction (PCR) results were compared. Costs were calculated based on invoice amounts from the Health Applications Communique pricing system. Results: The prevalence of TORCH seropositivity in Turkey was not significantly different between all regions (P > 0.05). Overall, 1333 (13.67%) pregnant Syrian refugees were included in the study. Acute CMV, rubella and Toxoplasma gondii infections (according to low IgG avidity in IgM positive patients) were detected in 17.82%, 21.53% and 14.07% of women, respectively. Twenty‐four women underwent an amniocentesis procedure and nine of them had positive DNA‐PCR and reverse transcription‐PCR results. All women with positive results opted to terminate the pregnancy. There was no statistical difference among groups according to the rate of low IgG avidity in IgM‐positive patients and termination rates for T. gondii, rubella and CMV (P > 0.05). Total cost for screening the entire study population was presented in US dollars (USD). A total of 71 529 and prenatal diagnosis with positive invasive test results were obtained in nine women: toxoplasmosis in four, CMV in three and rubella in two women. Conclusion: Population‐based screening for prenatal TORCH infections is not cost‐effective in Turkey. Syrian refugees have a limited effect on the increasing prevalence of congenital TORCH infections. [ABSTRACT FROM AUTHOR]

Non-Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA), is successfully implemented for an increasing number of monogenic diseases. However, technical issues related to cff-DNA characteristics remain, and not all mutations can be screened with this method, particularly triplet expansion mutations that frequently concern prenatal diagnosis requests. The objective of this study was to develop an approach to isolate and analyze Circulating Trophoblastic Fetal Cells (CFTCs) for NIPD of monogenic diseases caused by triplet repeat expansion or point mutations. We developed a method for CFTC isolation based on DEPArray sorting and used Huntington's disease as the clinical model for CFTC-based NIPD. Then, we investigated whether CFTC isolation and Whole Genome Amplification (WGA) could be used for NIPD in couples at risk of transmitting different monogenic diseases. Our data show that the allele drop-out rate was 3-fold higher in CFTCs than in maternal cells processed in the same way. Moreover, we give new insights into CFTCs by compiling data obtained by extensive molecular testing by microsatellite multiplex PCR genotyping and by WGA followed by mini-exome sequencing. CFTCs appear to be often characterized by a random state of genomic degradation. [ABSTRACT FROM AUTHOR]

To discuss combinations of traditional screening and noninvasive prenatal screening (NIPS) and to compare which traditional screening is the most suitable first-line screening approach to NIPS, pregnant women were recruited in this retrospective observational study. Pregnant women underwent one of four traditional screening tests. The 9 contingent models were combined by high risk cut-offs of 1:50, 1:100, 1:270 and intermediate risk cut-offs of 1:1000, 1:1500, 1:2000. We analyzed cost and performance of various screening models with contingent screening of different risk cut-offs. Compared with other screening tests, combined first-trimester screening (CFTS) had the lowest proportion of high risk (≥1:270) with the highest detection rate (DR) (78.79%) and the lowest proportion of intermediate risk (1:271~1:1000). When intermediate risk was 1:51 ~1:1500, CFTS as first-line screening had the lowest cost with DR of 93.94%. Other screening tests as the first-line screening with intermediate risk of 1:51~1:1000 had the lowest cost, there DR were 90.91%, 84.62%, 91.67%, respectively. Our study demonstrated if only one traditional screening was allowed to screen pregnant women, CFTS was recommended as the first choice. According to local health and economic conditions, adopting appropriate traditional screening with suitable cut-offs as first-line screening will contributed to a cost-effective screening model. [ABSTRACT FROM AUTHOR]

Recommendations for screening for hepatitis B immunity in pregnancy and vaccinating susceptible women vary among professional societies. The American College of Obstetricians and Gynecologists recommends vaccinating high-risk women for hepatitis B. However, only one fourth of U.S. adults have received a complete hepatitis B vaccination series. Because two thirds of individuals with chronic hepatitis B are unaware of their diagnosis, risk-based screening for immunity followed by vaccination of susceptible women may not identify and protect all women at risk. Acquisition of hepatitis B poses short-term and long-term risks to maternal and fetal health, an outcome that can be prevented by vaccination. Hepatitis B vaccination in pregnancy is safe and efficacious and can be completed during the course of prenatal care. Universal screening for hepatitis B immunity and vaccination of susceptible women in pregnancy should be a priority during prenatal care. Cost-effectiveness studies are needed to validate this approach. [ABSTRACT FROM AUTHOR]

Objective: To describe factors associated with not being tested for Chlamydia trachomatis and Neisseria gonorrhea infection during pregnancy and for testing positive and to describe patterns of treatment and tests of reinfection.Methods: We conducted a retrospective cohort study of women who delivered at an urban teaching hospital from July 1, 2016 to June 30, 2018. Women with at least one prenatal care or triage visit were included. The index delivery was included for women with multiple deliveries. We used logistic regression to analyze factors associated with not being tested and for testing positive for these infections in pregnancy. Cox proportional hazards models were used to examine factors associated with time to treatment and tests of reinfection. We reviewed medical records to determine reasons for delays in treatment longer than 1 week.Results: Among 3,265 eligible deliveries, 3,177 (97%) women were tested during pregnancy. Of these, 370 (12%) tested positive (287 chlamydia, 35 gonorrhea, 48 both), and 15% had repeat infections. Prenatal care adequacy and insurance status were risk factors for not being tested. Age, race and ethnicity, alcohol use, and sexually transmitted infection history were associated with testing positive. Time to treatment ranged from 0 to 221 days, with the majority (55%) of patients experiencing delays of more than 1 week. Common reasons for delays included lack of clinician recognition and follow-up of abnormal results (65%) and difficulty contacting the patient (33%).Conclusion: Traditional risk factors are associated with increased risk of infection during pregnancy. Prenatal care adequacy and insurance status were associated with the likelihood of being tested. Delays in treatment and tests of reinfection were common. Point-of-care testing and expedited partner therapy should be explored as ways to improve the management of these infections in pregnancy. [ABSTRACT FROM AUTHOR]

This is the fourth in a series of papers. The previous papers inform midwifery practice by providing insight into whether, to what extent and how cognitive status influences understanding of Down syndrome screening information, the importance of tailoring information, and highlighting areas of communication that are effective in facilitating understanding. These findings led to the development of recommendations to inform a 'best practice' model for midwifery communication of screening information within a conceptual framework that recognises the importance of accurate facts, empathic communication and support for decision-making in a woman-centred approach. These recommendations may have wider relevance beyond midwife communication of Down syndrome screening and may impact upon the communication of other screening information provided within antenatal and neonatal screening. It is important that screening information is communicated effectively in light of changes to screening programmes, such as the introduction of non-invasive prenatal testing. [ABSTRACT FROM AUTHOR]

Aim: To analyse how midwives communicate Down syndrome screening information and explore whether women's understanding of this information is influenced by midwives' communicative style. Methods: Midwives (n=16) and women (n=100) were recruited from a regional NHS unit in the UK. A mixed-methods design encompassed two components; audio-recorded antenatal consultations to assess midwives' communication and quantitative surveys to assess women's understanding. Findings: Midwife communication was not significantly related to women's understanding of Down syndrome screening information. However, qualitative thematic analysis revealed midwife communication was often insufficient in fully describing Down syndrome and screening. Communication was not very interactive, midwives dominated conversations and did not sufficiently check women's knowledge/understanding. Conclusions: Policymakers need to consider these findings. Deficits in midwife communication in relation to established screening practice needs to be addressed through additional training ahead of full implementation of non-invasive prenatal testing into midwifery practice. [ABSTRACT FROM AUTHOR]

Background Hepatitis C virus' (HCV) chronic prevalence among pregnant women in the United States doubled nationally from 2009–2014 (~0.7%), yet many cases remain undiagnosed. Screening pregnant women is not recommended by the Society of Maternal-Fetal Medicine or the Centers for Disease Control and Prevention, despite new American Association For the Study of Liver Diseases (AASLD)/Infectious Diseases Society of America (IDSA) guidelines recommending screening for this group. We assessed the cost-effectiveness of HCV screening for pregnant women in the United States. Methods An HCV natural history Markov model was used to evaluate the cost-effectiveness of universal HCV screening of pregnant women, followed by treatment after pregnancy, compared to background risk-based screening from a health-care payer perspective. We assumed a HCV chronic prevalence of 0.73% among pregnant women, based on national data. We assumed no Medicaid reimbursement restrictions by fibrosis stage at baseline, but explored differing restrictions in sensitivity analyses. We assessed costs (in US dollars) and health outcomes (in quality-adjusted life-years [QALYs]) over a lifetime horizon, using new HCV drug costs of $25 000/treatment. We assessed mean incremental cost-effectiveness ratios (ICERs) under a willingness-to-pay threshold of $50 000/QALY gained. We additionally evaluated the potential population impact. Results Universal antenatal screening was cost-effective in all treatment eligibility scenarios (mean ICER <$3000/QALY gained). Screening remained cost-effective at a prevalence of 0.07%, which is the lowest estimated prevalence in the United States (in Hawaii). Screening the ~5.04 million pregnant women in 2018 could result in the detection and treatment of 33 000 women, based on current fibrosis restrictions. Conclusions Universal screening for HCV among pregnant women in the United States is cost-effective and should be recommended nationally. [ABSTRACT FROM AUTHOR]

International guidelines recommend that prenatal screening for fetal abnormalities should only be offered within a non-directive framework aimed at enabling women in making meaningful reproductive choices. Whilst this position is widely endorsed, developments in cell-free fetal DNA based Non-Invasive Prenatal Testing are now raising questions about its continued suitability for guiding screening policy and practice. This issue is most apparent within debates on the scope of the screening offer. Implied by the aim of enabling meaningful reproductive choices is the idea that screening services should support women in accessing prenatal tests that best enable them to realize the types of reproductive choice that they find important. However, beyond whatever options meet the quality standards required for facilitating an informed decision, the remaining criteria of facilitating autonomous choice is strictly non-directive. As a result, policy makers receive little indication prior to consultation with each individual woman, about what conditions should be prioritized during the offer of screening. In this paper we try to address this issue by using the capabilities approach to further specify the non-directive aim of enabling meaningful reproductive choice. The resulting framework is then used to assess the relative importance of offering prenatal screening where concerning different types of genetic condition. We conclude that greater priority may be ascribed to offering prenatal screening for conditions that more significantly diminish a woman's central capabilities. It follows that serious congenital and earlier-onset conditions are more likely to fulfill these criteria. [ABSTRACT FROM AUTHOR]

The U.S. Food and Drug Administration (FDA) has proposed new regulations that would subject certain lab tests to scrutiny, which has sparked debate within the medical community. Currently, tests developed and used within a single lab are exempt from FDA review, but the agency wants to change that for tests such as prenatal screening and gene sequencing of tumors. Supporters argue that increased regulation will protect patients from inaccurate results, while critics worry that it will stifle innovation and limit access to tests. The FDA's proposal is still uncertain, but it could have significant implications for the testing field. [Extracted from the article]

Inherited deletions of upstream regulatory elements of α-globin genes give rise to α-thalassemia, which is an autosomal recessive monogenic disease. However, conventional thalassemia target diagnosis often fails to identify these rare deletions. Here we reported a family with two previous pregnancies of Hb Bart's hydrops fetalis and was seeking for prenatal diagnosis during the third pregnancy. Both parents had low level of Hemoglobin A2 indicating α-thalassemia. Conventional Gap-PCR and PCR-reverse dot blot showed the father carried –SEA deletion but did not identify any variants in the mother. Multiplex ligation-dependent probe amplification identified a deletion containing two HS-40 probes but could not determine the exact region. Finally, a long-read sequencing (LRS)-based approach directly identified that the exact deletion region was chr16: 48,642-132,584, which was located in the α-globin upstream regulatory elements and named (αα)JM after the Jiangmen city. Gap-PCR and Sanger sequencing confirmed the breakpoint. Both the mother and fetus from the third pregnancy carried heterozygous (αα)JM, and the fetus was normally delivered at gestational age of 39 weeks. This study demonstrated that LRS technology had great advantages over conventional target diagnosis methods for identifying rare thalassemia variants and assisted better carrier screening and prenatal diagnosis of thalassemia. • Conventional target diagnosis methods do not test upstream regulatory elements of α-globin genes. • Long-read sequencing identified a novel 83.9-kb deletion upstream of α-globin genes. • Long-read sequencing assisted for better prenatal diagnosis of α-thalassemia. [ABSTRACT FROM AUTHOR]

Congenital syphilis (CS) is a preventable infection, yet the incidence has surged to the highest rates in 20 years. Because 50% of live-born infants with CS are asymptomatic at birth, there is an increasing likelihood that pediatric providers will encounter older infants whose diagnoses were missed at birth, emphasizing the importance of timely prenatal screening and treatment. We present one such case of an infant admitted twice at 3 and 4 months of age with long bone fractures and suspected nonaccidental trauma. On her second presentation, several additional symptoms prompted evaluation for and eventual diagnosis of CS. In this case, it is demonstrated that an isolated long bone fracture can be a first presentation of CS, with other classic findings possibly appearing later. Pediatric providers should be familiar with the varied presentations of CS in older children, including the radiographic findings that we describe. The rising rates of CS reveal deficiencies in our current strategy to prevent CS and, thus, we recommend reconsideration of universal syphilis screening in the third trimester and at delivery, with timely treatment to prevent CS during pregnancy. [ABSTRACT FROM AUTHOR]

Sickle cell anemia is the most common hereditary disease in Cuba. On average, 1 in 33 Cubans is a carrier of this severe hemolytic anemia that can cause early death. In early 1980, its incidence in Cuba was calculated at 1 in 1600 births. In 1982, the Cuban public health system established the Sickle Cell Anemia Prevention Program, which aims to prevent the disease through identification of carrier couples and antenatal diagnosis of fetuses with disease-associated genotypes. In 1982-2018, hemoglobin genotypes were tested in 4,847,239 pregnant women. Of these, 168,865 (3.5%) were found to be carriers or to have sickle cell disease. During the same period, 8180 at-risk couples were identified, of whom 79.2% agreed to an antenatal study for detection of the sickle cell gene in the fetus. Among fetuses diagnosed, 20.1% had the SS genotype, the most clinically severe; 76.2% of the associated couples decided to interrupt the pregnancy. This program has resulted in a 3-fold reduction in prevalence of sickle cell disease in Cuba, a 10-fold reduction in the number of infants born with it each year, and a 16-year average increase in life expectancy of sickle cell disease patients of both sexes. Key contributors to these results have been universal screening of pregnant women in primary care, installation of diagnostic laboratories in every province, genetic counseling for couples, testing of fetal DNA (allowing couples to decide whether to continue the pregnancy if the fetus tests positive for the disease) and guaranteed multidisciplinary clinical care for patients. The Cuban experience shows that a middle-income country can mitigate the impact of a genetic disease through a universal preventive program based in primary care, which also pays particular attention to afflicted patients. [ABSTRACT FROM AUTHOR]

Diabetes is one of the most common medical conditions complicating pregnancy. Both pre-existing diabetes and gestational diabetes are associated with increased risks to the mother and fetus. These risks can be reduced by improving pre-conception and antenatal care. Pre-conception planning and care is important to ensure women are taking high dose folic acid, to optimise glucose control, to review medications and to screen for and manage any complications. All women with either pre-existing diabetes or gestational diabetes should be reviewed by the antenatal team every 1-2 weeks throughout pregnancy. This is to optimise glucose control and to monitor fetal growth and development. Women with diabetes in pregnancy should receive an individualised care plan for delivery. The exact timing of delivery will depend on maternal glucose control, fetal growth and any other complications. Women diagnosed with gestational diabetes in pregnancy are at high risk of developing both gestational diabetes and type 2 diabetes in the future. After delivery, they should be offered a fasting plasma glucose at 6 weeks or a glycated haemoglobin (HbA1c) at 13 weeks to ensure that the gestational diabetes has resolved and an annual HbA1c. [ABSTRACT FROM AUTHOR]

The article provides a guide for primary caregivers about severe combined immunodeficiency (SCID). Topics mentioned include prevalence of autosomal recessive severe combined immunodeficiency in societies with consanguanities, laboratory abnormalities diagnostic of SCID, and availability of a cost-effective screening test and improved outcome after early diagnosis and treatment.

Objective: To evaluate the detection rate of severe fetal anomalies at the first-trimester screening (FTS) and, vice versa, to evaluate the follow-up of pathological results at FTS at the time of mid-trimester screening (MTS) and throughout pregnancy and delivery in a partially selected population of low-risk pregnancies. Methods: We conducted a prospective study on the detection of severe fetal anomalies at routine FTS in 9891 pregnant women with 10,294 fetuses between 11 + 0 and 13 + 6 weeks of gestation. The findings of FTS were compared to the results of MTS and pregnancy and neonatal outcomes. Only cases with severe fetal anomalies were taken for statistical analysis in this study. Results: There were 232 cases of fetal anomaly altogether. At the time of FTS, sonographic anomalies were diagnosed in 113 cases and further ultrasound controls arranged. In four cases, fetal anomaly was not confirmed by MTS; in the remaining 109 cases, the sonographic anomaly seen at FTS was confirmed at MTS and in the course of pregnancy with a resulting sensitivity for fetal malformation at FTS of 47.8%, a specificity of 99.96%, a positive predictive value of 96.5% and a negative predictive value of 98.8%. Conclusion: FTS can detect almost half of all severe fetal anomalies at an early stage of pregnancy with positive predictive values of 90% and more. Sensitivities varied depending on the organ system and reached the highest figures for anomalies of the heart, the abdomen, the spine and the skeletal system. [ABSTRACT FROM AUTHOR]

Importance: Screening for hepatitis B virus (HBV) infection during pregnancy identifies women whose infants are at risk of perinatal transmission. Data from a nationally representative sample showed a prevalence of maternal HBV infection of 85.8 cases per 100 000 deliveries from 1998 to 2011 (0.09% of live-born singleton deliveries in the United States). Although there are guidelines for universal infant HBV vaccination, rates of maternal HBV infection have increased annually by 5.5% since 1998. Children infected with HBV during infancy or childhood are more likely to develop chronic infection. Chronic HBV infection increases long-term morbidity and mortality by predisposing infected persons to cirrhosis of the liver and liver cancer.Objective: To update the 2009 US Preventive Services Task Force (USPSTF) recommendation on screening for HBV infection in pregnant women.Evidence Review: The USPSTF commissioned a reaffirmation evidence update to identify substantial new evidence sufficient enough to change the prior recommendation. The USPSTF targeted its evidence review on the effectiveness and potential harms of screening and the effectiveness and harms of case management to prevent perinatal transmission.Findings: The USPSTF previously found adequate evidence that serologic testing for hepatitis B surface antigen accurately identifies HBV infection. Interventions are effective for preventing perinatal transmission, based on foundational evidence and observational studies of US case management programs. In addition, there is evidence that over time, perinatal transmission has decreased among women and infants enrolled in case management, providing an overall substantial health benefit. Therefore, the USPSTF reaffirms its previous conclusion that there is convincing evidence that screening for HBV infection in pregnant women provides substantial benefit.Conclusions and Recommendation: The USPSTF recommends screening for HBV infection in pregnant women at their first prenatal visit. (A recommendation). [ABSTRACT FROM AUTHOR]

Objectives: To define current obstetric opinion and clinical practice regarding the prenatal diagnosis of vasa previa in Australia and New Zealand.Methods: A population-based cross-sectional survey of Fellows of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists was conducted from April to May, 2016. Descriptive analysis was used to define factors influencing opinion and practice regarding definition of vasa previa, attributable risk factors, and the value of screening.Results: Overall, 453 respondents were included in the study. Two-thirds (304/453; 67.1%) defined vasa previa as exposed fetal vessel(s) running over or within 2 cm of the internal os. A higher proportion of ultrasound specialists (30/65; 46.2%) preferred a broader definition as compared with generalists (115/388; 29.6%; P<0.001). Overall, Fellows were supportive (342/430; 79.5%) of both reporting ultrasound-based risk factors at the 20-week anomaly scan and targeted screening (298/430; 69.3%). Only 77/453 (17.0%) respondents recognized all five "known" risk factors for vasa previa.Conclusions: There was a lack of consensus regarding the definition and diagnosis process for vasa previa. There was also a knowledge gap in risk factors for vasa previa that would inform a targeted screening policy. Nevertheless, support for targeted screening was strong from obstetricians who responded. [ABSTRACT FROM AUTHOR]

Objective: To report on the routine clinical implementation of cell-free DNA (cfDNA) analysis of maternal blood for trisomies 21, 18 and 13, contingent on the results of the first-trimester combined test in twin pregnancy.Methods: Screening for trisomies 21, 18 and 13 was carried out in 959 twin pregnancies by assessment of a combination of maternal age, fetal nuchal translucency thickness, and serum free β-human chorionic gonadotropin and pregnancy-associated plasma protein-A at 11-13 weeks' gestation in two UK NHS hospitals. Women in the high-risk group (risk ≥ 1 in 100) were offered the option of invasive testing, cfDNA testing or no further testing, and those in the intermediate-risk group (risk 1 in 101 to 1 in 2500 in the first phase of the study and 1 in 101 to 1 in 500 in the second phase) were offered cfDNA or no further testing. The trisomic status of the pregnancies was determined by prenatal or postnatal karyotyping or examination of the neonates.Results: In 42 (4.4%) of the 959 pregnancies, there was termination, miscarriage or stillbirth with no known karyotype or there was loss to follow-up. The 917 pregnancies with known trisomic status of both twins included six that were discordant for trisomy 21, four that were discordant for trisomy 18 and 907 with no trisomy 21, 18 or 13. Following combined screening, 47 (5.1%), 203 (22.1%) and 667 (72.7%) of the pregnancies were classified as high risk, intermediate risk and low risk, respectively. The high-risk group included five (83.3%) cases of trisomy 21 and three (75.0%) of trisomy 18. The cfDNA test was carried out in 224 pregnancies and results were provided in 214 (95.5%); this group included six pregnancies with trisomy 21, three with trisomy 18 and 206 with no trisomy 21, 18 or 13. The cfDNA test classified correctly as screen positive all six cases of trisomy 21 and two of the three with trisomy 18, and as screen negative for each of the trisomies all 206 unaffected pregnancies. Contingent screening led to prenatal detection of all cases of trisomy 21 and three of four with trisomy 18.Conclusion: This study has demonstrated the feasibility of introducing cfDNA testing, contingent on the results of the first-trimester combined test for major trisomies, in a routine population of twin pregnancies. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

The MERIDIAN study examined whether in‐utero MRI (iuMRI) improves the accuracy of diagnosis of foetal brain abnormalities, when used as an adjunct to ultrasound anomaly scanning. A diagnostic iuMRI differs from routine ultrasound screening because of its infrequent use and scanning procedure. Nested within this trial, this sociological study explored the acceptability of iuMRI as a technology and its contribution to parental decision‐making. Our sociological interpretation of the role of iuMR images in prenatal diagnosis draws on narrative interviews with women (and some partners) who underwent MRI imaging at three different centres. Overall, participants found iuMRI helpful in decision‐making because it either confirmed or disconfirmed previous results, or provided additional information. Expectant couples experienced the iuMR imaging process as informative, but also as having emotive and practical value. Our paper extends the existing sociological literature on antenatal testing and visualising the foetus, by using iuMR diagnostic imaging to further explore the concept of the unborn entity. Our data suggest that alongside the iuMR images, the 'parental gaze' and accompanying commentary are used by parents to construct and transform foetal and parental identities despite ongoing uncertainties about, and shifting social contexts to their pregnancy. [ABSTRACT FROM AUTHOR]

The records of women attending a large Australian regional hospital for antenatal care were retrospectively analysed to determine what proportion had undergone or been offered first trimester screening for fetal abnormalities; only 609 (54%) of 1114 women had undergone or been offered screening. Younger women, multiparous women and women living in rural Australia were less likely to be offered screening. Barriers to screening and solutions for overcoming these need to be identified to improve access and equality in antenatal screening for all women. [ABSTRACT FROM AUTHOR]

Objectives: The objective of this study is to identify the optimal cut-off points of contingent serum screening excluding nuchal translucency (NT) measurement, to categorize the risk level in the first trimester.Methods: A prospective database of women undergoing contingent serum screening, without NT measurement, was reviewed. In conventional categorization, the results of first-trimester screening were categorized into high risk (>1:30) (invasive diagnosis was offered); intermediate risk (1:30-1:1500) (second-trimester screening was needed); and low risk (<1:1500) (no further test). We recategorized the risk levels using various upper and lower cut-offs and compared detection rates, false-positive rates, and rates of intermediate risk.Results: Among 24,874 women, the prevalence of Down syndrome was 1:691. The previously agreed cut-offs had a detection rate of 88.9% and a false-positive rate of 8.5% with high rate of intermediate risk (38.2%). Re-categorization provided the optimal lower and upper cut-offs 1/900 and 1/50, respectively, giving a detection rate of 86.1%, a false-positive rate of 8.1%, and a rate of intermediate risk of 24.8%.Conclusions: This is the first study on contingent serum screening without NT measurement which shows a high detection rate with an acceptable false-positive rate. The optimal cut-offs to categorize the risk levels of the upper and the lower cut-off was 1:30-1:50 and 1:900, respectively. [ABSTRACT FROM AUTHOR]

Abstract Screening in reproductive healthcare in the UK has expanded rapidly since the introduction of cervical screening by the NHS in 1981. Women are offered comprehensive antenatal care screening for a range of pregnancy complications, including pre-eclampsia and gestational diabetes with the aim of early disease detection and management. With the advances in molecular medicine in recent years, novel biomarkers are being developed that have the potential to accurately predict these diseases long before their clinical onset. Likewise, non-invasive testing in fetal medicine for a variety of genetic conditions may supersede traditional first trimester screening. In oncology, new tools for population screening for ovarian cancer are being sought via prospective samples stored in biobanks. Tracking serial measurements from each patient may optimise the current use of CA125 rather than using predetermined thresholds. These developments highlight the move towards more personalised medicine. However, challenges in implementing new screening will include cost efficacy and ethical considerations such as informed consent. [ABSTRACT FROM AUTHOR]

We performed a seroepidemiologic study of sera from children in Brooklyn, New York, before and after the implementation of prenatal chlamydial screening almost 20% of children aged ≤10 years in the prescreening group had anti- Chlamydia trachomatis immunoglobulin G compared with none in the postscreening group. [ABSTRACT FROM AUTHOR]

In 2020, the American College of Obstetricians and Gynecologists recommended noninvasive prenatal testing be offered to all patients. However, current societal guidelines in the United States do not universally recommend a detailed first-trimester ultrasound. This study aimed to determine the additional findings identified through first-trimester ultrasound that would have otherwise been missed if noninvasive prenatal testing was used alone as a first-trimester screening method. This was a retrospective cohort study involving 2158 pregnant patients and 2216 fetuses that were seen at a single medical center between January 1, 2020, and December 31, 2022. All those included underwent both noninvasive prenatal testing and detailed first-trimester ultrasound between 11.0 and 13.6 weeks of gestation. Noninvasive prenatal testing results were categorized as low risk or high risk, and first-trimester ultrasound results were categorized as normal or abnormal. Abnormal first-trimester ultrasounds were further classified as first-trimester screening markers (increased nuchal translucency, absent nasal bone, tricuspid regurgitation, and ductus venosus reverse a-wave) or structural defects (the cranium, neck, heart, thorax, abdominal wall, stomach, kidneys, bladder, spine, and extremities). Descriptive statistics were used to report our findings. Of 2216 fetuses, 65 (3.0%) had a high-risk noninvasive prenatal testing result, whereas 2151 (97.0%) had a low-risk noninvasive prenatal testing result. Of those with a low-risk noninvasive prenatal testing result, 2035 (94.6%) had a normal first-trimester ultrasound, whereas 116 (5.4%) had at least 1 abnormal finding on first-trimester ultrasound. The most common screening marker detected within the low-risk noninvasive prenatal testing group was absent nasal bone (52/2151 [2.4%]), followed by reversed a-wave of the ductus venosus (30/2151 [1.4%]). The most common structural defect in this group was cardiac abnormality (15/2151 [0.7%]). Overall, 181 fetuses were identified as having "abnormal screening" through either a high-risk noninvasive prenatal testing result (n=65) or through a low-risk noninvasive prenatal testing result but abnormal first-trimester ultrasound (n=116). In summary, the incorporation of first-trimester ultrasound screening identified 116 additional fetuses (5.4%) that required further follow-up and surveillance than noninvasive prenatal testing alone would have identified. Detailed first-trimester ultrasound identified more fetuses with a potential abnormality than noninvasive prenatal testing alone. Therefore, first-trimester ultrasound remains a valuable screening method that should be used in combination with noninvasive prenatal testing. [ABSTRACT FROM AUTHOR]

The Fetal Anomaly Screening Programme (FASP) is a national antenatal screening programme, responsible for two screening pathways: Down's syndrome, Edwards' syndrome, Patau's syndrome and 11 physical conditions at the 18–20 week scan. The core aim is to provide parents with information that supports their choices and values. In the last 19 years screening performances have improved significantly by defining a standardized approach, refining the tests offered, developing e-learning, supporting sonographers and laboratories with a quality assurance programme (Down's syndrome screening Quality Assurance Support Service) and auditing screening performance through the National Congenital Anomaly and Rare Diseases Registration Service. In 2021 FASP will implement non-invasive prenatal testing (NIPT) to screen for T21, T18 and T13 only. This will improve the choices offered to women and reduce the number of women having invasive prenatal diagnosis. In addition FASP is working with the National Institute for Health Research to potentially develop standards for evaluating specific fetal anomalies at 11–14 weeks. [ABSTRACT FROM AUTHOR]

For educational purposes, in order to show the importance of the " I a priori i risk" we have selected 4 cases of false positive NIPT results, two of trisomy 18 and two of trisomy 13, with different maternal ages. To the Editors, Noninvasive prenatal testing (NIPT) is the most effective prenatal screening test for trisomy 21 and other prevalent aneuploidies like trisomy 18 and 13 and it can be performed from 9 or 10 weeks of gestation [[1]]. [Extracted from the article]

Objective: To perform a decision and cost-effectiveness analysis comparing four screening strategies for the antenatal diagnosis of vasa previa in singleton pregnancies.Methods: A decision-analytic model was constructed comparing vasa previa screening strategies. Published probabilities and costs were applied to four transvaginal screening scenarios that were carried out at the time of mid-trimester ultrasound: no screening, ultrasound-indicated screening, screening only pregnancies conceived by in-vitro fertilization (IVF) and universal screening. Ultrasound-indicated screening was defined as performing transvaginal ultrasound at the time of the routine anatomy ultrasound scan in response to one of the following sonographic findings associated with an increased risk of vasa previa: low-lying placenta, marginal or velamentous cord insertion or bilobed or succenturiate lobed placenta. The primary outcome was cost per quality-adjusted life year (QALY) in US$. The analysis was performed from a healthcare system perspective with a willingness-to-pay threshold of $100 000 per QALY selected. One-way and multivariate sensitivity analysis (Monte-Carlo simulation) was performed.Results: This decision-analytic model demonstrated that screening pregnancies conceived by IVF was the most cost-effective strategy, with an incremental cost effectiveness ratio (ICER) of $29186.50/QALY. Ultrasound-indicated screening was the second most cost-effective, with an ICER of $56096.77/QALY. These data were robust to all one-way and multivariate sensitivity analyses performed.Conclusions: Within the baseline assumptions, transvaginal ultrasound screening for vasa previa appears to be most cost-effective when performed among IVF pregnancies. However, both IVF and ultrasound-indicated screening strategies fall within contemporary willingness-to-pay thresholds, suggesting that both strategies may be appropriate to apply in clinical practice. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To determine the performance of a targeted microarray-based cell-free DNA (cfDNA) test (Harmony Prenatal Test®) for the identification of pregnancies at increased risk for 22q11.2 deletion.Methods: Test performance was determined in 2 steps including a total of 1,953 plasma samples. Analytical validation was performed in 1,736 plasma samples. Clinical verification of performance was performed in an additional 217 prospectively ascertained samples from pregnancies with fetal deletion status determined by diagnostic testing.Results: Analytical sensitivity was 75.4% (95% CI: 67.1-82.2%) based on 122 samples with deletions ranging from 1.96 to 3.25 Mb. In 1,614 presumed unaffected samples, specificity was determined to be at least 99.5% (95% CI: 99.0-99.7%). In the clinical cohort, 5 of 7 samples from pregnancies affected with 22q11.2 deletion were determined to have a high probability of deletion. There were no false positive results in the 210 unaffected samples in this cohort. These clinical data are consistent with the performance demonstrated in the analytical validation.Conclusions: cfDNA testing using a targeted microarray-based technology is able to identify pregnancies at increased risk for 22q11.2 deletions of 3.0 Mb and smaller while maintaining a low false positive rate. [ABSTRACT FROM AUTHOR]

Background: The development of new noninvasive approaches for the diagnosis of human platelet antigen (HPA)-1 fetomaternal incompatibility has become of great interest. These approaches allow determination of whether the fetus is incompatible or not with the mother and a decision on antenatal therapy to avoid fetal or neonatal alloimmune thrombocytopenia (FNAIT). The objective of this work was to perform rapid, noninvasive prenatal test for HPA-1ab fetal antigen detection after the detection of an HPA-1-homozygous mother by using plasma cell-free DNA (cfDNA).Study Design and Methods: The HPA-1 genotypes of 142 pregnant women and 17 nonpregnant controls were retrospectively determined by high-resolution melting (HRM) polymerase chain reaction (PCR). Coamplification at lower denaturation temperature (COLD) HRM PCR was performed to determine the fetal genotype analyzing cfDNA from all HPA-1bb pregnant women.Results: After the HRM analysis, the following genotypes were identified: HPA-1aa (71.13%), HPA-1bb (2.8%), and HPA-1ab (26.06%). Four HPA-1bb-homozygous pregnant women were carrying an incompatible fetus. Plasma samples from these mothers were analyzed by HRM COLD-PCR. Homozygous HPA-1bb pregnant women carrying an HPA-1ab-heterozygous fetus did not group with either the HPA-1ab or the HPA-1bb controls. Thus, COLD-PCR analysis allows the detection of HPA-1ab-heterozygous fetuses carried by homozygous mothers during first weeks of pregnancy.Conclusion: The fetal genotype from HPA-1bb-homozygous women was detected by a noninvasive prenatal test as soon as 12 weeks of gestation. [ABSTRACT FROM AUTHOR]

Background: Congenital syphilis (CS)-the preventable transmission of Treponema pallidum from infected mother to fetus-remains a significant problem worldwide.Methods: From July through November 2017, 239 articles relevant to CS prevention were identified via keyword searches in PubMed and Google Scholar, ancestry searches, and expert recommendation. Articles were then assessed for (1) measurement of a specified CS or adverse pregnancy outcomes (APOs) and (2) geographic setting in high/upper middle income countries according to United Nations criteria. In total, 119 articles met inclusion criteria. These were then vetted for 1 of 3 arms of CS prevention, after which additional ancestral searches were conducted within each arm to arrive at the final collection of articles per CS prevention strategy-maternal prenatal treatment (n = 33), prenatal screening (n = 24), and public health interventions that support screening and treatment (n = 15).Results: Of the 7 studies that evaluated treatment with benzathine penicillin G (BPG) use within the context of a modern health care system, all showed BPG to be highly effective in CS prevention; 3 additional studies demonstrated BPG effectiveness in preventing APOs. Ten studies revealed early disease detection through prenatal screening significantly reduces CS and APOs when paired with BPG. There was limited literature evaluating public health interventions, such as partner notification, surveillance, and prenatal screening laws.Conclusions: Congenital syphilis is a preventable disease, effectively avoided with appropriate prenatal screening and BPG therapy. Increasing syphilis rates among all adults, accompanied by gaps in the provision of prenatal care to women at high risk of infection, are major contributors to CS persistence. [ABSTRACT FROM AUTHOR]

The aim of this study was to obtain the construct validity of the short form of the Postpartum Depression Scale (PDSS-SF) for screening antenatal depression symptoms by means of the Patient Health Questionnaire-9 (PHQ-9) as a gold standard. The sample consisted of 449 pregnant women recruited in the Hospital Clínico San Carlos, Madrid, Spain. A ROC analysis was used. The results show the the area under the ROC curve for minor, moderate, and severe depression was .86, p < .001, .95, p < .001, and .99, p < .001, respectively. The sensitivity and specificity were .70 and .81 for minor depression, with 11 as a cutoff score, .85 and .88 for moderate depression, with 14 as a cutoff score, and 1 and .99, with 23 as a cutoff score for severe depression. The results of the PDSS-SF provide a good internal consistency, significant validity and reliability, and showed satisfactory combinations of sensitivity and specificity. The PDSS-SF is an accurate tool to evaluate antenatal depression. [ABSTRACT FROM AUTHOR]

Purpose: To assess fetal central nervous system (CNS) abnormalities presenting as major findings leading to late termination of pregnancy (late TOP) performed ≥ 24 weeks' gestation.Method: The study population included 2789 pregnant women that underwent late TOP in our institute between the years 1998 and 2015.Results: Fifty-seven cases (2.0%) underwent late TOP because of fetal CNS indications and are the subjects of the current study. Those cases were subdivided into four categories (1) no routine prenatal screening with an incidental finding discovered ≥ 24 weeks' gestation (25 patients, 43.8%); (2) developmental or acquired findings detected during late second and third trimester (22 patients, 38.6%); (3) apparently normal routine screening with abnormal findings that could have been detected earlier (six patients, 10.6%); (4) routine prenatal care raised suspicion of abnormalities, and the final diagnosis was established only following additional tests (four patients, 7.0%).Conclusions: Combining the two categories of CNS abnormalities, i.e., pregnant women who did not undergo any fetal evaluation (group 1) and those that could have been detected earlier (group 3) consists 54% from our cohort in which late TOP could have been avoided. On contrary, 39% fetuses from our study population had CNS developmental findings which could be detected only at advanced stage of gestation. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to analyze prenatal human immunodeficiency virus (HIV) testing rates over time and describe the impact of state HIV testing laws on prenatal testing.Methods: During 2004-2011, self-reported prenatal HIV testing data for women with live births in 35 states and New York City were collected. Prevalence of testing was estimated overall and by state and year. An annual percent change was calculated in states with at least 6 years of data to analyze testing changes over time. An attorney-coder used WestlawNext to identify states with laws that direct prenatal care providers to screen all pregnant women or direct all women to be tested for HIV and document changes in laws to meet this threshold.Results: The overall prenatal HIV testing rate for 2004 through 2011 combined was 75.7%. State-level data showed a wide range of testing rates (43.2%-92.8%) for 2004 through 2011 combined. In areas with 6 years of data, 4 experienced an annual drop in testing (Alaska, Arkansas, Colorado, and Illinois). States that changed laws to meet the threshold generally had the highest testing rates, averaging 80%, followed by states with a preexisting law, at approximately 70%. States with no law, or no law meeting the threshold, had an average prenatal testing rate of 65%.Conclusions: Prenatal HIV testing remained stable between 2004 and 2011 but remained below universal recommendations. Testing varied widely across states and was generally higher in areas that changed their laws to meet the threshold or had preexisting prenatal HIV testing laws, compared with those with no or limited prenatal HIV testing language. [ABSTRACT FROM AUTHOR]

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