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Background: Deep learning (DL) is a new technology that can assist prenatal ultrasound (US) in the detection of congenital heart disease (CHD) at the prenatal stage. Hence, an economic-epidemiologic evaluation (aka Cost-Utility Analysis) is required to assist policymakers in deciding whether to adopt the new technology. Methods: The incremental cost-utility ratios (CUR), of adding DL assisted ultrasound (DL-US) to the current provision of US plus pulse oximetry (POX), was calculated by building a spreadsheet model that integrated demographic, economic epidemiological, health service utilization, screening performance, survival and lifetime quality of life data based on the standard formula: CUR = Increase in Intervention Costs - Decrease in Treatment costs Averted QALY losses of adding DL to US & POX US screening data were based on real-world operational routine reports (as opposed to research studies). The DL screening cost of 145 USD was based on Israeli US costs plus 20.54 USD for reading and recording screens. Results: The addition of DL assisted US, which is associated with increased sensitivity (95% vs 58.1%), resulted in far fewer undiagnosed infants (16 vs 102 [or 2.9% vs 15.4%] of the 560 and 659 births, respectively). Adoption of DL-US will add 1,204 QALYs. with increased screening costs 22.5 million USD largely offset by decreased treatment costs (20.4 million USD). Therefore, the new DL-US technology is considered "very cost-effective", costing only 1,720 USD per QALY. For most performance combinations (sensitivity > 80%, specificity > 90%), the adoption of DL-US is either cost effective or very cost effective. For specificities greater than 98% (with sensitivities above 94%), DL-US (& POX) is said to "dominate" US (& POX) by providing more QALYs at a lower cost. Conclusion: Our exploratory CUA calculations indicate the feasibility of DL-US as being at least cost-effective. [ABSTRACT FROM AUTHOR]

Background: Noninvasive prenatal testing (NIPT) is widely used to screen for fetal aneuploidies. However, there are few reports of using NIPT for screening chromosomal microduplications and microdeletions. This study aimed to investigate the application efficiency of NIPT for detecting chromosomal microduplications. Methods: Four cases of copy number gains on the long arm of chromosome 17 (17q12) were detected using NIPT and further confirmed using copy number variation (CNV) analysis based on chromosome microarray analysis (CMA). Results: The prenatal diagnosis CMA results of the three cases showed that the microduplications in 17q12 (ranging from 1.5 to 1.9 Mb) were consistent with the NIPT results. The karyotypic analysis excluded other possible unbalanced rearrangements. The positive predictive value of NIPT for detecting chromosomal 17q12 microduplication was 75.0%. Conclusions: NIPT has a good screening effect on 17q12 syndrome through prenatal diagnosis, therefore it could be considered for screening fetal CNV during the second trimester. With the clinical application of NIPT, invasive prenatal diagnoses could be effectively reduced while also improving the detection rate of fetal CNV. [ABSTRACT FROM AUTHOR]

Background: Prenatal detection of critical congenital heart disease (CCHD) optimises perinatal decision-making and neonatal outcomes. The objective of this study was to determine the prenatal screening performance, care pathways and perinatal outcomes for prenatally and postnatally diagnosed cases of CCHD over a four-year period. Study design: This retrospective cohort study in a tertiary centre and its two affiliated secondary sites examined all cases of CCHD, including cases of pregnancy termination and in-utero fetal death, neonatal death and liveborn babies that underwent cardiac catheterization or surgery in the first six weeks of life. Prenatal and postnatal data were ascertained from the first trimester assessment for all patients diagnosed prenatally. Cases requiring intervention that were first identified in the postnatal period were included to determine prenatal detection rates. Follow-up for all cases of CCHD continued to one year of age. Results: In a consecutive cohort of 49,950 pregnancies in a 4-year period 01/2019 to 12/2022, a prenatal diagnosis of CCHD was made in 96 cases, yielding a prevalence of 1.9 per 1000 births. The prenatal detection for right duct-dependant heart pathology and congenital heart block was 100%, 85% for left duct-dependant pathology and 93% for transposition of the great arteries (TGA). In the prenatally diagnosed group, 37% of cases were complicated by extracardiac structural abnormalities, a genetic diagnosis or both. All cases of prenatal detection were identified in the context of routine anatomy screening rather than specialist Fetal Cardiac screening services. Almost half of all pregnancies complicated by CCHD did not undergo neonatal cardiac intervention, by virtue of parental choice determined either prenatally or after birth. An additional eight babies were diagnosed with CCHD in the neonatal period, such that the prenatal detection rate for CCHD was 92% (96/104, 95% CI = 84%-96%). Survival at 1-year for infants deemed suitable for CCHD surgery was 85%. Conclusion: In a large unselected population, optimal rates of prenatal detection of critical congenital heart disease can be achieved by a protocolised approach to mid-trimester fetal anatomy ultrasound, underpinned by a programme of sonographer education and training. The cardiac abnormalities most likely to evade prenatal detection are left-sided obstructive lesions. [ABSTRACT FROM AUTHOR]

Background: Although the traditional contingent screening strategy is effective, there are still undetected low-risk trisomy 21. This study aims to define appropriate cut-off values of serum biochemical markers at low-risk and develop a strategy for sequential prenatal testing associated with first-trimester screening to increase the detection rate of trisomy 21. Methods: This was a 9-year retrospective analysis of singleton pregnant women who underwent serum biochemical screening or combined first-trimester screening (CFTS) in the first trimester. For the low-risk group, the cut-off values of the serum biochemical markers were adjusted to determine the appropriate detection efficiency. Gravidas with abnormal serum biochemical markers at low-risk were advised to undergo further non-invasive prenatal screening (NIPS), whereas others continued with routine prenatal care. Results: When cut-off values of free beta subunit of human chorionic gonadotropin (free β-hCG) multiples of the median (MoM) or pregnancy-associated plasma protein A (PAPP-A) MoM were defined with ≥ 2.75 or ≤ 0.5, 7.72% (2,194/28,405) in the serum biochemical screening group and 12.36% (4,005/32,403) in CFTS group could be detected as abnormal results for further NIPS. Finally, 55.56% (5/9) and 85.71% (6/7) of trisomy 21 cases with false-negative results were detected, and the overall detection rate for trisomy 21 was improved by 10.64% (5/47) and 12.77% (6/47), respectively. Conclusions: The new contingent screening strategy can increase the detection rate of trisomy 21 compared with the traditional contingent screening strategy. [ABSTRACT FROM AUTHOR]

Objective: To investigate the efficiency of non-invasive prenatal testing (NIPT) in cases with different cutoffs of nuchal translucency (NT). Methods: The study retrospectively analyses pregnancies with NT ≥ 2.5 mm who underwent NIPT. Results of NT, NIPT, chromosomal diagnostic and pregnancy outcomes were collected. Results: Study group was composed of 1470 single pregnancies, including 864 with NT 2.5–2.9 mm, 350 with NT 3.0–3.4 mm and 256 with NT ≥ 3.5 mm. Non-significant differences were found in the positive predictive value (PPV) of NIPT between different cutoffs of NT. There was one false positive case with NT 4.3 mm, screening for 47,XYY in NIPT showed normal in diagnostic testing. For cases with normal NIPT results, the residual risk is 1:20 (5%, 95%CI: 0.1–10.1%) in fetuses with NT 3.0–3.4 mm and 1:15 (6.5%, 95%CI: 1.4%-11.5%) in fetuses with NT ≥ 3.5 mm. These false negative cases included one trisomy 21, seven pathogenic CNVs, one uniparental disomy and one single gene disorders. Conclusion: Our findings demonstrated that the PPV of NIPT for screening chromosomal aberrations were similarly in different NT cutoffs, while false positive case does exist. After normal in NIPT, risk for chromosomal aberrations remained, especially pathogenic CNV and even common trisomy. Therefore, prenatal diagnosis was recommended and CMA was suggested to apply in pregnancies with NT ≥ 3.0 mm. [ABSTRACT FROM AUTHOR]

Background: Standard noninvasive prenatal screening(NIPS) is an accurate and reliable method to screen for common chromosome aneuploidies, such as trisomy 21, 18 and 13. Extended NIPS has been used in clinic for not only aneuploidies but also copy number variants(CNVs). Here we aim to define the range of chromosomal abnormalities that should be able to identify by NIPS in order to be an efficient extended screening test for chromosomal abnormalities. Methods: A prospective study was conducted, involving pregnant women without fetal sonographic structural abnormalities who underwent amniocentesis. Prenatal samples were analyzed using copy number variation sequencing(CNV-seq) to identify fetal chromosomal abnormalities. Results: Of 28,469 pregnancies included 1,022 (3.59%) were identified with clinically significant fetal chromosome abnormalities, including 587 aneuploidies (2.06%) and 435 (1.53%) pathogenic (P) / likely pathogenic (LP) CNVs. P/LP CNVs were found in all chromosomes, but the distribution was not uniform. Among them, P/LP CNVs in chromosomes 16, 22, and X exhibited the highest frequencies. In addition, P/LP CNVs were most common on distal ends of the chromosomes and in low copy repeat regions. Recurrent microdeletion/microduplication syndromes (MMS) accounted for 40.69% of total P/LP CNVs. The size of most P/LP CNVs (77.47%) was < 3 Mb. Conclusions: In addition to aneuploidies, the scope of extended NIPS should include the currently known P/LP CNVs, especially the regions with recurrent MMS loci, distal ends of the chromosomes, and low copy repeat regions. To be effective detection should include CNVs of < 3 Mb. Meanwhile, sufficient preclinical validation is still needed to ensure the clinical effect of extended NIPS. [ABSTRACT FROM AUTHOR]

Background: Noninvasive prenatal testing (NIPT) allows for screening of fetal aneuploidy and copy number variants (CNVs) from cell-free DNA (cfDNA) in maternal plasma. Professional societies have not yet embraced NIPT for fetal CNVs, citing a need for additional performance data. A clinically available genome-wide cfDNA test screens for fetal aneuploidy and CNVs larger than 7 megabases (Mb). Results: This study reviews 701 pregnancies with "high risk" indications for fetal aneuploidy which underwent both genome-wide cfDNA and prenatal microarray. For aneuploidies and CNVs considered 'in-scope' for the cfDNA test (CNVs ≥ 7 Mb and select microdeletions), sensitivity and specificity was 93.8% and 97.3% respectively, with positive and negative predictive values of 63.8% and 99.7% as compared to microarray. When including 'out-of-scope' CNVs on array as false negatives, the sensitivity of cfDNA falls to 48.3%. If only pathogenic out-of-scope CNVs are treated as false negatives, the sensitivity is 63.8%. Of the out-of-scope CNVs identified by array smaller than 7 Mb, 50% were classified as variants of uncertain significance (VUS), with an overall VUS rate in the study of 2.29%. Conclusions: While microarray provides the most robust assessment of fetal CNVs, this study suggests that genome-wide cfDNA can reliably screen for large CNVs in a high-risk cohort. Informed consent and adequate pretest counseling are essential to ensuring patients understand the benefits and limitations of all prenatal testing and screening options. [ABSTRACT FROM AUTHOR]

Background: To evaluate the role of a standardized first-trimester scan in screening different kinds of central nervous system malformations and to report a 3-year experience from a tertiary center using an unselected cohort. Methods: This was a retrospective analysis of prospectively collected data from a single center evaluating first-trimester scans with predesigned standardized protocols performed between 1 May 2017 and 1 May 2020, involving 39,526 pregnancies. All pregnant women underwent a series of prenatal ultrasound scans at 11–14, 20–24, 28–34 and 34–38 weeks of gestation. Abnormalities were confirmed by magnetic resonance imaging, postmortem examination or trained ultrasound professionals. Pregnancy outcomes and some postnatal follow-up were obtained from maternity medical records and telephone calls. Results: A total of 38,586 pregnancies included in the study. The detection rates of CNS anomalies by ultrasound in the first, second, third and late third trimester were 32%, 22%, 25%, and 16%, respectively. And there were 5% of CNS anomalies missed by prenatal ultrasound. In the first-trimester scan, we diagnosed all cases of exencephaly, anencephaly, alobar holoprosencephaly and meningoencephalocele, and some cases of posterior cranial fossa anomalies (20%), open spina bifida (67%), semilobar holoprosencephaly (75%) and severe ventriculomegaly (8%). Vein of Galen aneurysmal malformation, closed spina bifida, lobar holoprosencephaly, intracranial infection, arachnoid cyst, agenesis of the corpus callosum, cysts of the septum pellucidum and isolated absence of the septum pellucidum were never detected during the first trimester. The abortion rates of fetal CNS anomalies detected by first-trimester scan, second-trimester scan, and third- trimester scan were 96%, 84% and 14%, respectively. Conclusions: The study showed that almost 1/3 of central nervous system anomalies were detected by the standard first-trimester scan and these cases were associated with a high rate of abortion. Early screening for fetal abnormalities gives parents more time for medical advice and safer abortion if needed. It is therefore recommended that some major CNS anomalies should be screened in the first trimester. The standardized anatomical protocol, consisting of four fetal brain planes, were recommended for routine first trimester ultrasound screening. [ABSTRACT FROM AUTHOR]

Objective: A total of 5,200 pregnant women in Zhaoqing city, Guangdong Province, were screened to identify spinal muscular atrophy (SMA) mutation carriers to guide the prevention of SMA and prevent the birth of children with SMA. Methods: Exons 7 and 8 (E7 and E8) of the survival motor neuron (SMN) 1 gene were detected in women using real-time fluorescence quantitative polymerase chain reaction. SMN1 and SMN2 copy numbers in those who were initially identified as carriers were verified via targeted region capture and next-generation sequencing. When both partners were identified as carriers, prenatal diagnosis of the fetus was performed. Results: Among the screened women, 75 SMA carriers (71 cases had both E7 and E8 heterozygous deletions and 4 cases only had an E7 heterozygous deletion) were identified, with a carrier frequency of 1.44% (95% confidence interval: 1.31–1.65%). Three couples where both spouses were identified as SMA carriers, and their three fetuses were subjected to prenatal genetic analysis. Of the three, one had homozygous deletions of E7 and E8 and the other two had heterozygous deletions of E7 and E8. After a detailed prenatal consultation, the former couple decided to terminate the pregnancy. Conclusion: Through screening and prenatal diagnosis of pregnant women in Zhaoqing city, Guangdong Province, the incidence of SMA can be reduced, prevention of birth defects can be improved, incidence of birth defects can be effectively minimized. [ABSTRACT FROM AUTHOR]

Background: To investigate the prevalence and prenatal diagnosis rate of chromosomal abnormalities (CA) in Zhejiang Province, China. Methods: We estimated the annual changes in the detected prevalence of CA and prenatal diagnosis rate among 681,590 births in Zhejiang Province, China, between 2014 and 2020. Data were derived from the provincial birth defects surveillance system, which represents 30% of annual births in Zhejiang Province. The effect of maternal age was also evaluated. Results: The detected prevalence of sex chromosomal abnormalities (1.70–7.30 per 10,000 births, Ptrend < 0.001) and microdeletion and microduplication (0.30–6.81 per 10,000 births, Ptrend < 0.001) gradually increased, contributing to an upward trend in overall CA (12.09–39.22 per 10,000 births). The diagnosis rate before 22 gestational weeks constantly increased from 20.8 to 70.1% for trisomy 21 (Ptrend = 0.003). The prevalence rate ratio for maternal age of ≥ 35 years was higher than that for maternal age of 25–29 years for trisomy 21 (5.40, 95% confidence interval [CI] 4.59–6.35) and sex chromosomal abnormalities (3.28, 95% CI 2.48–4.33). Conclusions: The rising prevalence of CA in China may be attributable to the elevated maternal age and the innovation of prenatal diagnosis tools, Thus, studies should pay attention to the rare CA that were previously ignored, and select rational screening tools. [ABSTRACT FROM AUTHOR]

Background: So called cell-free fetal DNA (cffDNA) in the maternal plasma, which is derived from placenta, is widely used to screen fetal aneuploidies, including trisomy 21, 18, 13 and sex chromosomes. Here we reported a case of trisomy 8 mosaicism (T8M), which was initially identified via cffDNA screening in noninvasive prenatal testing (NIPT). Methods: A 35-year-old woman received cffDNA screening at 17th week of gestation. Amniocentesis was performed subsequently, and karyotyping, single-nucleotide polymorphism array (SNP-array) and BACs-on-Beads™ (BoBs™) were used to determine fetal chromosome content. Interphase fluorescence in situ hybridization (FISH) was applied to determine the copy number of chromosome 8. Results: An enhanced risk for fetal trisomy 8 was identified by cffDNA screening in the studied pregnant woman. After amniocentesis trisomy 8 was found in 1 of 73 metaphases. SNP-array on DNA derived from cultured amniocytes and neonatal cord blood cells suggested the presence of T8M. Interphase FISH on native neonatal cord blood cells confirmed T8M with a percentage of 10%. The Bobs™ fluorescence data also suggested that 8q23-8q24 was amplified. Conclusions: The current study shows that NIPT is suited to provide hints on rare autosomal trisomies, which have to be further validated and confirmed by other approaches. [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]

Background: Approaches to screening can influence the acceptance of and comfort with mental health screening. Qualitative evidence on pregnant women's comfort with different screening approaches and disclosure of mental health concerns is scant. The purpose of this study was to understand women's perspectives of different mental health screening approaches and the perceived barriers to the communication and disclosure of their mental health concerns during pregnancy.Methods: A qualitative descriptive study was undertaken. Fifteen women, with a singleton pregnancy, were recruited from a community maternity clinic and a mental health clinic in Calgary, Canada. Semi-structured interviews were conducted during both the 2nd and 3rd trimesters. Data were analyzed using thematic analysis.Results: Preferences for mental health screening approaches varied. Most women with a known mental health issue preferred a communicative approach, while women without a known mental health history who struggled with emotional problems were inclined towards less interactive approaches and reported a reluctance to share their concerns. Barriers to communicating mental health concerns included a lack of emotional literacy (i.e., not recognizing the symptoms, not understanding the emotions), fear of disclosure outcomes (i.e., fear of being judged, fear of the consequences), feeling uncomfortable to be seen vulnerable, perception about the role of prenatal care provider (internal barriers); the lack of continuity of care, depersonalized care, lack of feedback, and unfamiliarity with/uncertainty about the availability of support (structural barriers).Conclusions: The overlaps between some themes identified for the reasons behind a preferred screening approach and barriers reported by women to communicate mental health concerns suggest that having options may help women overcome some of the current disclosure barriers and enable them to engage in the process. Furthermore, the continuity of care, clarity around the outcomes of disclosing mental health concerns, and availability of immediate support can help women move from providing "the best answer" to providing an authentic answer. [ABSTRACT FROM AUTHOR]

Background: In 2007, universal screening for gestational diabetes mellitus (GDM) was introduced in Tamil Nadu, India. To identify factors hindering or facilitating timely initiation and completion of the GDM screening and diagnosis process, our study investigated how pregnant women in rural and urban Tamil Nadu access and navigate different GDM related health services.Methods: The study was carried out in two settings: an urban private diabetes centre and a rural government primary health centre. Observations of the process of screening and diagnosis at the health centres as well as semi-structured interviews with 30 pregnant women and nine health care providers were conducted. Data was analysed using qualitative content analysis.Results: There were significant differences in the process of GDM screening and diagnosis in the urban and rural settings. Several factors hindering or facilitating timely initiation and completion of the process were identified. Timely attendance required awareness, motivation and opportunity to attend. Women had to attend the health centre at the right time and sometimes at the right gestational age to initiate the test, wait to complete the test and obtain the test report in time to initiate further action. All these steps and requirements were influenced by factors within and outside the health system such as getting right information from health care providers, clinic timings, characteristics of the test, availability of transport, social network and support, and social norms and cultural practices.Conclusions: Minimising and aligning complex stepwise processes of prenatal care and GDM screening delivery and attention to the factors influencing it are important for further improving and expanding GDM screening and related services, not only in Tamil Nadu but in other similar low and middle income settings. This study stresses the importance of guidelines and diagnostic criteria which are simple and feasible on the ground. [ABSTRACT FROM AUTHOR]

Background: In Brazil, due to the rapid increase in programmes for the prevention of mother-to-child transmission (PMTCT), routine programme data are widely available. The objective of this study was to assess the utility of programmatic data to replace HIV surveillance based on the antenatal care (ANC) surveillance survey (SS).Methods: We analysed ANC SS data from 219 maternity service clinics. PMTCT variables were extracted from the ANC SS data collection form, which allowed us to capture and compare the ANC SS data and PMTCT HIV test results for each pregnant woman who completed the ANC SS. Both the PMTCT programme and the ANC SS tested for HIV using sequential ELISA and western blot for confirmation. We assessed the completeness (% missing) of the PMTC data included in the ANC SS.Results: Of the 36,713 pregnant women who had ANC SS HIV tests performed, 30,588 also underwent PMTCT HIV testing. The HIV prevalence rate from routine PMTCT testing was 0.36%, compared to 0.38% from the ANC SS testing (relative difference -0.05%; absolute difference -0.02%). The relative difference in prevalence rates between pregnant women in northern Brazil and pregnant women central-west Brazil was -0.98 and 0.66, respectively. Of the 29,856 women who had HIV test results from both the PMTCT and ANC SS, the positive percent agreement of the PMTCT versus the surveillance test was 84.1% (95% confidence interval [CI]: 74.8-91.0), and the negative percent agreement was 99.9% (95% CI: 99.9-100.0). The PMTCT HIV testing uptake was 86.4%. The ANC SS HIV prevalence was 0.33% among PMTCT non-refusers and 0.59% among refusers, with a percent bias of -10.80% and a differential prevalence ratio of 0.56. Syphilis and HIV testing results were complete in 98% and 97.6% of PMTCT reports, respectively. The reported HIV status for the women at clinic entry was missing.Conclusions: Although there were consistent HIV prevalence estimates from the PMTCT data and the ANC SS, the overall positive percent agreement of 84.1% falls below the World Health Organization benchmark of 94.7%. Therefore, Brazil must continue to reinforce data collection practices and ensure the quality of recently introduced rapid HIV testing before replacing the PMTCT data with surveillance techniques. However, some regions with better results could be prioritized to pilot the use of PMTCT data for surveillance. [ABSTRACT FROM AUTHOR]

Background: Identification of prenatal ventriculoarterial connections in fetuses with conotruncal anomalies (CTA) remains one of the greatest challenges for sonographers performing screening examinations. Herein, we propose a novel protocol of 4D volume analysis that identifies ventriculoarterial connections and evaluate its clinical utility in routine screenings.Methods: Twenty-nine cases of transposition of the great arteries (TGA), 22 cases of double-outlet right ventricle (DORV), 36 cases of tetralogy of Fallot (TOF), 14 cases of truncus arteriosus (TCA), and randomly selected 70 normal fetuses were reviewed in this study. All cases were evaluated using 2D data alone (2D method), post-processing volumes with no exact algorithm (4D-1 method), or with the proposed algorithm (4D-2 method), or using the 2D and 4D data together (combined method). Comparisons were made to evaluate the detection rate of ventriculoarterial connections for these different methods.Results: During 18-28 gestational weeks, the detection rate of 4D-2 modality was satisfactory. The detection rate of the combined method was significantly higher than 2D method in the identification of TGA, TOF, and TCA. The detection rate of 4D-1 method was significantly lower than 4D -2 modality for CTA fetuses. During late pregnancy, the detection rate for both 4D modalities was very low due to the poor quality of the 4D volumes.Conclusions: We proposed a detailed protocol, which allowed the examiner to identify fetal ventriculoarterial connections by 4D volumes. Inclusion of blood information into the volumes improved diagnosis. Our findings suggest that the incorporation of 4D STIC into routine screenings could improve the detection for TGA, TOF, and TCA. [ABSTRACT FROM AUTHOR]

Background: Although the advantages of introducing point of care testing for syphilis in antenatal care (ANC) are well documented, there is little evidence on how to address structural issues within health systems. A better understanding of how these interventions work in a range of settings and contexts is needed in order to overcome bottlenecks at health system level. To better understand the relationships between implementation and context we developed and implemented an intervention focused on integrating a rapid screening test for syphilis in ANC services in rural primary health care facilities in Burkina Faso. This manuscript describes the intervention and reports on feasibility and acceptability of the intervention, the facilitators and barriers to the implementation of this intervention and the likelihood that point of care test for syphilis will become routinely incorporated in practice.Methods: In Kaya Health and Demographic Surveillance System (Kaya HDSS), all 7 primary healthcare facilities were selected for intervention in 2013. A participatory approach was used to design and implement an antenatal syphilis screening intervention. The Normalization Process Model (NPM) proposed by May et al. was adapted in order to identify barriers and facilitators and to explore the likelihood to become routinely incorporated in practice. Registers, Observations (n = 14 ANC 1) of interactions between patients and health workers during ANC and interviews with health workers (n = 14) were our data sources.Results: An intervention that included onsite training, provision of supplies and medicines, quality control and supervision was implemented in 7 health facilities in 2013. Rapid syphilis test and treatment were delivered during ANC within the examination room with no specific additional mechanism regarding staff organization. The perceived barriers were lack of training of all staff, workload, stock-outs of consumables and lack of motivation of staff. Key facilitators included political environment, ease of use of test and acceptability to pregnant women.Conclusions: Onsite testing for antenatal syphilis is a feasible and acceptable intervention in ANC at primary health facility in Burkina Faso. The point-of care test for syphilis is more likely to be acceptable by health workers as routine service and incorporated as a normal practice.Trial Registration: The study was retrospectively registered on ClinicalTrials.gov under the Trial Registration Number NCT03156751 . [ABSTRACT FROM AUTHOR]

Background: Hospital discharge codes are often used to determine the incidence of gestational diabetes mellitus (GDM) at state and national levels. Previous studies demonstrate substantial variability in the accuracy of GDM reporting, and rarely report how the GDM was diagnosed. Our aim was to identify deliveries coded as gestational diabetes, and then to determine how the diagnosis was assigned and whether the diagnosis followed established guidelines.Methods: We identified which deliveries were coded at discharge as complicated by GDM at the Brigham and Women's Hospital in Boston, MA for the year 2010. We reviewed medical records to determine whether the codes were appropriately assigned.Results: Of 7883 deliveries, coding for GDM was assigned with 98% accuracy. We identified 362 cases assigned GDM delivery codes, of which 210 (58%) had oral glucose tolerance test (OGTT) results available meeting established criteria. We determined that 126 cases (34%) received a GDM delivery code due to a clinician diagnosis documented in the medical record, without an OGTT result meeting established guidelines for GDM diagnosis. We identified only 15 cases (4%) that were coding errors.Conclusions: Thirty four percent of women assigned GDM delivery codes at discharge had a medical record diagnosis of GDM but did not meet OGTT criteria for GDM by established guidelines. Although many of these patients may have met guidelines if guideline-based testing had been conducted, our findings suggest that clinician diagnosis outside of published guidelines may be common. There are many ramifications of this approach to diagnosis, including affecting population-level statistics of GDM prevalence and the potential impact on some women who may be diagnosed with GDM erroneously. [ABSTRACT FROM AUTHOR]

Background: Gestational diabetes mellitus (GDM) occurs in 2-6 % of all pregnancies. We investigated whether area level deprivation is associated with a higher risk for GDM and whether GDM detection rates in deprived regions changed after the introduction of charge-free GDM screening in Germany in 2012.Methods: We analyzed population-based data from Bavaria, Germany, comprising n = 587,621 deliveries in obstetric units between 2008 and 2014. Area level deprivation was assessed municipality-based using the Bavarian Index of Multiple Deprivation (BIMD), divided into quintiles and assigned to each mother based on her residential address. We estimated annual odds ratios (ORs) for GDM diagnosis by BIMD quintile with adjustment for maternal obesity, maternal age, migration background and single mother status.Results: Women from the most deprived regions were less likely to be diagnosed with GDM before introduction of charge-free GDM screening (OR = 0.76 [95 % confidence interval: 0.66, 0.86] compared to least deprived areas), in 2008. In contrast, high area level deprivation was associated with significantly increased risk of GDM diagnosis in 2013 (OR [95 % confidence interval] = 1.15 [1.02, 1.29]). The OR was also elevated, although not significantly, in 2014 (OR [95 % confidence interval] = 1.05 [0.93, 1.18]).Conclusions: The prevalence of GDM seems to have been underreported in women from highly deprived areas before introduction of the charge-free GDM screening in Germany. In fact, women living in deprived regions seem to have an increased risk for GDM and may profit from access to charge-free GDM screening. [ABSTRACT FROM AUTHOR]

Background: Health professionals are expected to engage pregnant women in shared decision making to help them make informed values-based decisions about prenatal screening. Patient decision aids (PtDAs) foster shared decision-making, but are rarely used in this context. Our objective was to identify factors that could influence health professionals to use a PtDA for decisions about prenatal screening for Down syndrome during a clinical pregnancy follow-up.Methods: We planned to recruit a purposive sample of 45 health professionals (obstetrician-gynecologists, family physicians and midwives) involved in the care of pregnant women in three clinical sites (15 per site). Participating health professionals first watched a video showing two simulated consecutive prenatal follow-up consultations during which a pregnant woman, her partner and a health professional used a PtDA about Down syndrome prenatal screening. Participants were then interviewed about factors that would influence their use of the PtDA. Questions were based on the Theoretical Domains Framework. We performed content analyses of transcribed verbatim interviews.Results: Out of 42 eligible health professionals approached, 36 agreed to be interviewed (86 % response rate). Of these, 27 were female (75 %), nine were obstetrician-gynecologists (25 %), 15 were family physicians (42 %), and 12 were midwives (33 %), with a mean age of 42.1 ± 11.6 years old. We identified 35 distinct factors reported by 20 % or more participants that were mapped onto 10 of the 12 of the Theoretical Domains Framework domains. The six most frequently mentioned factors influencing use of the PtDA were: 1) a positive appraisal (n = 29, 81 %, beliefs about consequences domain); 2) its availability in the office (n = 27, 75 %, environmental context and resources domain); 3) colleagues' approval (n = 27, 75 %, social influences domain); 4) time constraints (n = 26, 72 %, environmental context and resources domain); 5) finding it a relevant source of information (n = 24, 67 %, motivation and goals domain); and 6) not knowing any PtDAs (n = 23, 64 %, knowledge domain).Conclusions: Appraisal, PtDA availability, peer approval, time concerns, evidence and PtDA awareness all affect whether health professionals are likely to use a PtDA to help pregnant women make informed decision about Down syndrome screening. Implementation strategies will need to address these factors. [ABSTRACT FROM AUTHOR]

Background: The influence of different diagnostic thresholds for gestational diabetes mellitus (GDM) on pregnancy outcomes is not fully understood. Degrees of glucose intolerance according to the Carpenter-Coustan (CC) criteria were less severe than the National Diabetes Data Group (NDDG) criteria for GDM. Recent studies have shown inconsistent results regarding the risk of adverse pregnancy outcomes between the NDDG and CC criteria. Therefore, the objective of this study was to investigate whether pregnant women who met only the CC criteria but not the NDDG criteria and those who met the NDDG criteria had increased risks of adverse pregnancy outcomes compared to a negative screening group.Methods: A total of 11,486 Taiwanese pregnancies were enrolled in a retrospective cohort study. The study subjects were classified as follows: (1) negative screening group: women with negative 50-g glucose challenge test (GCT) results, (2) false-positive screening group: women with positive GCT results and negative 100-g OGTT results according to both CC and NDDG criteria, (3) CC-only-GDM group: women with positive GCT results plus GDM diagnosis meeting the CC but not the NDDG criteria, and (4) NDDG-GDM group: women diagnosed with GDM using the NDDG criteria. Multiple mixed effects logistic regression analysis was used to examine the relationships between the groups and pregnancy outcomes.Results: There were 9002 (78.4 %), 1776 (15.5 %), 251 (2.2 %), and 457 (4.0 %) study pregnancies in the 4 groups. Compared with the negative screening group, the maternal outcomes were not different within groups except for gestational hypertension/preeclampsia. For neonatal outcomes, the CC-only-GDM group had significantly greater risks of macrosomia, low birth weight, and admission to a neonatal intensive care unit [adjusted odds ratio (aOR), (95 % confidence interval, CI): 2.73 (1.18-6.31), 1.64 (1.01-2.64), and 1.61 (1.05-2.46), respectively]. The NDDG-GDM group also showed significantly greater risks, and the false-positive screening group showed no differences from the negative screening group.Conclusion: Women who met only the CC criteria and women who met NDDG criteria had significant increased risks of adverse neonatal outcomes. This evidence adds important information to the current debate about the diagnostic criteria for GDM regarding pregnancy outcomes. [ABSTRACT FROM AUTHOR]

Background: Congenital toxoplasmosis is associated with severe complications. German state health insurance covers rubella, but not toxoplasmosis, immunity screening. We analysed the effect of socioeconomic factors on the efficiency of private toxoplasmosis screening during pregnancy.Methods: Toxoplasmosis and rubella screening data (n = 5402 mothers) were collected within the population-based Survey of Neonates in Pomerania (SNiP).Results: At the first-trimester screening, 34.4 % (88.1 %) of expecting mothers were immune to toxoplasmosis (rubella). Susceptibility for toxoplasmosis (rubella) was observed in 39.6 % (8.9 %) and 25.8 % (2.95 %) were not tested. Data on a 2(nd) screening were available in a subgroup of women with negative immunity showing less than 45 % participation rate. Active toxoplasmosis (no rubella) infection was observed in 0.3 % (n = 17) of pregnant women. A multiple logistic regression model (AIC = 719.67; AUC = 0.725) revealed that the likelihood of participating in a second toxoplasmosis screening increased among women with a good level of education and a steady partnership and decreased with paternal unemployment and the absence of breastfeeding. The highest probability of non-participation in toxoplasmosis screening was found among women with temporal burden and family responsibilities. A cost-benefit analysis showed that covering general screening for toxoplasmosis with health insurance saved costs.Conclusion: Toxoplasmosis carried a substantial risk of infection during pregnancy. Although increased socioeconomic status was positively associated with the participation in toxoplasmosis screening, this was not the case when pregnant women had strong temporal burden and family responsibilities. This data supports the need for toxoplasmosis screening among pregnant women as a general healthcare benefit covered by insurance. [ABSTRACT FROM AUTHOR]

Background: Detection and management of antenatal risk factors is critical for improved maternal and infant outcomes. This study describes the proportion of pregnant women who self-reported being screened for and offered advice to manage antenatal risk factors in line with antenatal care recommendations; and the characteristics associated with rates of screening.Methods: A survey was undertaken with 223 (64 % of eligible) pregnant women recruited from an outpatient obstetrics clinic at a public hospital. Participants self-reported whether they were: (i) screened for 23 guideline-recommended risk factors during their antenatal visit; (ii) offered assistance to manage identified risk factor(s); and (iii) received assistance that was of benefit. Association between rate of screening and participant characteristics was examined using multivariate quantile regression.Results: Overall, 23 % of women reported that they were asked about every risk factor. Weight gain (48 %), diet (60 %) and oral health (31 %) were least frequently screened risk factors. The number of women who reported they were offered advice to manage identified risks and the value of that advice was perceived by women as suboptimal. Those women receiving shared care between a midwife and general practitioner, of Aboriginal or Torres Strait Islander descent, and without private health insurance reported being screened for a greater number of risk factors.Conclusions: Pregnant women report suboptimal rates of screening and management of antenatal risk factors. Initiatives to improve consistency in detection of antenatal risk factors and the application of appropriate interventions to manage those risk factors that are detected are required. [ABSTRACT FROM AUTHOR]

Background: Iron deficiency anaemia is a common problem in pregnancy despite national recommendations and guidelines for treatment. The aim of this study was to appraise the evidence against the UK National Screening Committee (UKNSC) criteria as to whether a national screening programme could reduce the prevalence of iron deficiency anaemia and/or iron deficiency in pregnancy and improve maternal and fetal outcomes.Methods: Search strategies were developed for the Cochrane library, Medline and Embase to identify evidence relevant to UK National Screening Committee (UKNSC) appraisal criteria which cover the natural history of iron deficiency and iron deficiency anaemia, the tests for screening, clinical management and evidence of cost effectiveness.Results: Many studies evaluated haematological outcomes of anaemia, but few analysed clinical consequences. Haemoglobin and ferritin appeared the most suitable screening tests, although future options may follow recent advances in understanding iron homeostasis. The clinical consequences of iron deficiency without anaemia are unknown. Oral and intravenous iron are effective in improving haemoglobin and iron parameters. There have been no trials or economic evaluations of a national screening programme for iron deficiency anaemia in pregnancy.Conclusions: Iron deficiency in pregnancy remains an important problem although effective tests and treatment exist. A national screening programme could be of value for early detection and intervention. However, high quality studies are required to confirm whether this would reduce maternal and infant morbidity and be cost effective. [ABSTRACT FROM AUTHOR]

Background: Despite the non-invasive nature of non-invasive prenatal testing (NIPT), there is still a need for a separate informed consent process before testing. The objectives of this study are to assess (a) knowledge and preferences of Chinese women in a major public hospital in Hong Kong who underwent NIPT, and (b) whether their knowledge and preferences differ depending on womens' characteristics and sources of information. Methods: Setting: prenatal diagnosis and counselling clinic. Between February 2012 and September 2013, a questionnaire survey was distributed to all women who underwent NIPT after positive aneuploidy screening. As a pilot study, ten knowledge questions were designed based on the rapid response statement on Prenatal Detection of Down Syndrome using Massively Parallel Sequencing from the International Society for Prenatal Diagnosis in 2011. The source of women's knowledge and their preferences were also evaluated. While conventional screening was publicly funded, NIPT was not. Differences between subgroups were compared using chi square tests and logistic regression analysis. Results: Of 152 women who underwent NIPT, 135 (88.8 %) completed their questionnaires. More than 90 % of women recognised the possibility of false positive and false negative results. Slightly more than 70 % of women knew the inferior sensitivity of NIPT compared to an invasive test, and the possibility of an uninformative test result, but were not aware of the complicated aspects of NIPT. Pregnant women with an advanced level of education or those who underwent NIPT before 15 weeks provided answers that was more accurate by around 10-20 % in two to three knowledge questions than those without. These associations were confirmed by multivariate logistic regression analysis. The women received information on NIPT largely from their private doctors (47.4 %) and web (41.5 %). In their future pregnancies, more women would opt for NIPT (a self-financed item) after positive screening ('free' in a public hospital) (57.8 %) than as a primary screening (30.4 %). Conclusions: It is feasible to use a questionnaire based on the ISPD statement on NIPT to assess women's knowledge of the test. The Chinese women who underwent NIPT recognised the limitations, but did not understand the complicated aspects. More information should be provided by health care professionals in order to facilitate an informed choice by patients. More women preferred NIPT as a contingent test than as a primary screening probably because of its high cost. [ABSTRACT FROM AUTHOR]

Background: Non-invasive prenatal testing (NIPT) is currently used as a frontline screening test to identify fetuses with common aneuploidies. Occasionally, incidental NIPT results are conveyed to the clinician suggestive of fetuses with rare chromosome disease syndromes. We describe a child with trisomy 9 (T9) mosaicism where the prenatal history reported a positive NIPT result for T9 that was unconfirmed by conventional prenatal diagnosis. Methods: NIPT was performed by low coverage whole genome plasma DNA sequencing. Karyotyping and fluorescent in situ hybridization (FISH) analysis with chromosome 9p-ter and 9q-ter probes was used to determine the somatic cell level of T9 mosaicism in the fetus and child. Quantitative fluorescent PCR (Q-PCR) of highly polymorphic short tandem repeat (STR) chromosome 9 markers was also performed to investigate the nature of the T9 mosaicism and the parental origin. Results: A 22 month old girl presented with severe developmental delay, congenital cerebral dysplasia and congenital heart disease consistent with phenotypes associated with T9 mosaicism syndrome. Review of the prenatal testing history revealed a positive NIPT result for chromosome T9. However, follow up confirmatory karyotyping and FISH analysis of fetal cells returned a normal karyotype. Post-natal studies of somatic cell T9 mosaicism by FISH detected levels of approximately 20 % in blood and buccal cells. Q-PCR STR analysis of family DNA samples suggested that the T9 mosaicism originated by post-zygotic trisomic rescue of a paternal meiotic II chromosome 9 non-disjunction error resulting in the formation of two distinct somatic cell lines in the proband, one with paternal isodisomy 9 and one with T9. Conclusion: This study shows that NIPT may also be a useful screening technology to increase prenatal detection rates of rare fetal chromosome disease syndromes. [ABSTRACT FROM AUTHOR]

Background With the aim of eliminating malaria from Sri Lanka by 2014, the Anti-Malaria Campaign of Sri Lanka (AMC) sought the support of Tropical and Environmental Diseases and Health Associates Private Limited (TEDHA), a private sector organization. In 2009, TEDHA was assigned 43 government hospitals in the district of Mannar in the Northern Province and in districts of Trincomalee, Batticaloa and Ampara in the Eastern Province to carry out malaria surveillance to complement the surveillance activities of the AMC. Passive case detection (PCD), activated passive case detection (APCD) and active case detection (ACD) for malaria have been routinely carried out in Sri Lanka. Methods The active case detection programme of TEDHA involves screening of populations irrespective of the presence of fever or any other signs or symptoms of malaria to detect infections and residual parasite carriers. ACD is done by TEDHA in a) high risk populations through mobile malaria clinics including armed forces personnel and b) pregnant females who visit antenatal clinics for asymptomatic malaria infections during the first trimester of pregnancy. Populations are selected in consultation with the Regional Malaria Officer of the AMC thus avoiding any overlap with the population screened by the government. Results TEDHA screened 387,309 individuals in the four districts for malaria by ACD including high risk groups and pregnant women between January 2010 and December 2012. During this period seven individuals were diagnosed with Plasmodium vivax infections and one individual was detected with a mixed infection of P. vivax and Plasmodium falciparum. All eight cases were detected by ACD carried out by mobile malaria clinics among high risk groups in the Mannar district. Conclusion The progress made by Sri Lanka in the malaria elimination drive is largely due to increased surveillance and judicious use of control methods which has resulted in zero indigenous malaria cases being reported since October 2012. ACD played a major role in interrupting malaria transmission in the country. [ABSTRACT FROM AUTHOR]

Background: Pregnant women with hepatitis B virus (HBV) infection can transmit the infection to their infants, screening of patients and appropriate interventions reduce vertical transmission. This audit was conducted to assess adherence to the national guidelines for management of HBV infection in pregnancy.Methods: A retrospective audit was conducted on pregnant women diagnosed with hepatitis B on screening in antenatal clinics, across four hospitals in London over 2 years (2009-2010). Data was collected from antenatal records and discharge summaries using a standard audit form. The outcomes measured included HBV serological markers, HBV DNA, detection of other blood borne viruses and referral to hepatology services, administration of active and passive prophylaxis to infants at birth. Descriptive statistics are presented. Proportions were compared using the χ2 test and 95% confidence intervals (CI) were calculated for prevalence estimates. Analyses were conducted using STATA 12.Results: HBsAg was detected in 1.05% (n = 401, 95% CI 0.95-1.16) of women attending an antenatal appointment, 12% (n = 48) of the women were at a high risk of vertical transmission (HBe Ag positive or antiHBe and HBeAg negative or HBV DNA >106 IU/ml). Only 62% (n = 248) women were referred to hepatology or specialist clinics and 29% (n = 13) of women of high infectivity were on antiviral agents. Testing for hepatitis C and delta virus was suboptimal. 75% (n = 36) of the infants at a high risk of acquisition of HBV received both active and passive prophylaxis.Conclusion: In certain sectors of London, implementation of the pathway for management of women with hepatitis B and their infants is suboptimal. National guidelines should be followed and improved intersectorial sharing of information is needed to reduce the risk of women of high infectivity being lost to follow up. [ABSTRACT FROM AUTHOR]

Background: Intimate partner violence (IPV) has consistently been found to afflict one in twenty pregnant women and is therefore considered a leading cause of physical injury, mental illness and adverse pregnancy outcome. A general antenatal screening policy has been advocated, though compliance with such guidelines tends to be low. We therefore attempted to identify potential barriers to IPV screening in a context where no guidelines have been instigated yet. Methods: Questionnaire-based Knowledge, Attitude, and Practice survey among obstetrician-gynaecologists in Flanders, Belgium (n = 478). Results: The response rate was 52.1% (249/478). Gynaecologists prove rather unfamiliar with IPV and therefore largely underestimate the extent of the problem. Merely 6.8% (17/249) of the respondents ever received or pursued any kind of education on IPV. Accordingly they do feel insufficiently skilled to deal with IPV, yet sufficiently capable of recognizing IPV among their patients. Survey participants largely refute the incentive of universal screening in favour of opportunistic screening and do not consider pregnancy as a window of opportunity for routine screening. They do consider screening for IPV as an issue of medical liability and therefore do not suffer from a lack of motivation to screen. In addition, obstetrician-gynaecologists do believe that screening for IPV may be an effective means to counteract abusive behaviours. Yet, their outcome expectancy is weighed down by their perceived lack of self-efficacy in dealing with IPV, by lack of familiarity with referral procedures and by their perceived lack of available referral services. Major external or patient-related barriers to IPV screening included a perceived lack of time and fear of offending or insulting patients. Overall, merely 8.4 % (21/245) of gynaecologists in this survey performed some kind of IPV questioning on a regular basis. Finally, physician education was found to be the strongest predictor of a positive attitude towards screening and of current screening practices. Conclusion: Endorsement of physician training on IPV is an important first step towards successful implementation of screening guidelines for IPV. Additional introduction of enabling and reinforcement strategies such as screening tools, patient leaflets, formal referral pathways, and physician feedback may further enhance compliance with screening recommendations and guidelines. [ABSTRACT FROM AUTHOR]

Background: Delayed diagnosis of critical congenital heart disease (CCHD) carries a serious risk of mortality, morbidity, and handicap. As echocardiography is commonly used to diagnose congenital heart disease (CHD), echocardiographic investigations in newborns may be helpful in detecting CCHD earlier and with higher sensitivity than when using other screening methods. The present study aimed to evaluate the effectiveness of echocardiographic screening for CCHD in a tertiary care center.Methods: A retrospective chart review was conducted among newborns delivered at Hamamatsu University Hospital between June 2009 and May 2016. The study included consecutive newborns who underwent early echocardiographic screening (within the first 5 days of life) performed by pediatric cardiologists, were born at ≥36 weeks of gestation, had a birthweight ≥2300 g, and were cared for in the well-baby nursery. Newborns admitted to the neonatal intensive care unit, as well as those with prenatal diagnosis of CHD and/or clinical symptoms or signs of CHD were excluded. Four CHD outcome categories were defined: critical, serious, clinically significant, and clinically non-significant.Results: A total of 4082 live newborns were delivered during the study period. Of 3434 newborns who met the inclusion criteria and had complete echocardiography data, 104 (3.0%) were diagnosed as having CHD. Among these, none was initially diagnosed as having critical or serious CHD. Of the 95 newborns who continued follow-up with a cardiologist, 61 (64%) were determined to have non-significant CHDs that resolved within 6 months of life. Review of excluded newborns revealed nine cases of critical or serious CHD; among these newborns, six were diagnosed prenatally and three had some clinical signs of CHD prior to hospital discharge.Conclusions: In our tertiary care center, echocardiography screening within the first 5 days of life did not help improve CCHD detection rate in newborns without prenatal diagnosis or clinical signs of CHD. Echocardiographic screening may be associated with increased rate of false-positives (defects resulting in clinically non-significant CHDs) in newborns without prenatal diagnosis or suspicion of CHD. [ABSTRACT FROM AUTHOR]