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Background: Prenatal diagnosis of placenta percreta (PP) is important to be able to provide effective management and a multidisciplinary approach to minimize the complications. Purpose: To evaluate the role of shear-wave elastography (SWE) in the prenatal diagnosis of PP. Material and Methods: A total of 18 women with PP and 20 pregnant women with normal placenta in the second or third trimesters were included in this prospective study. SWE was used to determine the elasticities of the placenta (in the maternal edge of the placenta) and myometrium. The obstetric data regarding grayscale and Doppler ultrasonography, and perinatal outcomes were reviewed. A mean placental SW velocity (SWV) cut-off value was determined to predict the presence of placental adherence. Results: The SWV values of the PP group in the maternal edge of the placenta were significantly higher than those of the control group (1.95 ± 0.19 m/s and 1.69 ± 0.23 m/s; P = 0.001). Myometrial SWV was also higher in the PP group compared to the control group (2.25 ± 0.39 m/s and 1.90 ± 0.71 m/s; P = 0.002). A receiver operating characteristic (ROC) curve analysis was performed and the best cut-off value of placental SWV was determined as 1.92 m/s with sensitivity of 58% and specificity of 80%, to predict the placental adherence in patients with PP. Conclusion: Placental stiffness was significantly higher in patients with PP than in pregnant women with normally localized placenta. Thus, we thought that SWE of the placenta might be used as an alternative method in the diagnosis of PP. [ABSTRACT FROM AUTHOR]

This manuscript will review intensive care management considerations for pregnant patients with severe COVID-19 disease. [ABSTRACT FROM AUTHOR]

This article explored the relationship between intrauterine hypoxia in pregnant women with pregnancy-induced hypertension and the changes in brain and placental parameters detected by three-dimensional power Doppler (3D-CPA). One hundred confirmed pregnant women with hypertension during pregnancy were selected as the case group, and 100 pregnant women with normal pregnancy in the same period were selected as the control group. 3D-CPA was used to examine the fetal brain and placental blood perfusion parameters of the two groups, and the two groups of fetal delivery were detected after the level of oxidative stress products in cord blood, the correlation between 3D-CPA parameters and oxidative stress products was analyzed. The blood vessel index (VI), blood flow index (FI), and vascular blood flow index (VFI) measured values in the placenta tissue of the case group were lower than those of the control group (P<0.05). VI, FI, VFI measured value in the fetal brain of the case group was greater than that of the control group (P<0.05). The measured values of VI; FI, and VFI in the placental tissue of the preeclampsia group were lower than those of the hypertensive disorder group during pregnancy (P<0.05). The measured values of FI, VFI and VI in the fetal brain of the preeclampsia group were greater than those of the hypertensive disease group during pregnancy (P<0.05). The cord blood of the case group contained malondialdehyde (MDA), 8-isoprostaglandin (8-iso), Oxidized low-density lipoprotein (ox-LDL) and heat shock protein-70 (HSP-70) were significantly higher than those of the control group (P<0.05). The VI and VFI in the placenta tissue of patients with pregnancy-induced hypertension were significantly negatively correlated with the levels of MDA, ox-LDL, 8-iso, and HSP-70 in the patient's cord blood (P<0.05), and FI was significantly negatively correlated with ox-LDL, 8-ISO and HSP-70 (P<0.05). The VI of the fetal brain in the pregnancy-induced hypertension group was significantly positively correlated with MDA, 8-iso, and HSP-70 in the umbilical cord blood of the patients (P<0.05), and VFI was significantly positively correlated with 8-iso and HSP-70.3D-CPA examination can find that the level of fetal placental blood flow parameters of pregnant women with pregnancy-induced hypertension is reduced, and the craniocerebral blood flow parameters are compensatedly increased, and it is related to intrauterine hypoxia. [ABSTRACT FROM AUTHOR]

Background: The existence of maternal malignancy may cause false-positive results or failed tests of NIPT. Though recent studies have shown multiple chromosomal aneuploidies (MCA) are associated with malignancy, there is still no effective solution to identify maternal cancer patients from pregnant women with MCA results using NIPT. We aimed to develop a new method to effectively detect maternal cancer in pregnant women with MCA results using NIPT and a random forest classifier to identify the tissue origin of common maternal cancer types. Methods: For examination, 496 participants with MCA results via NIPT were enrolled from January 2016 to June 2019 at BGI. Cancer and non-cancer participants were confirmed through the clinical follow-up. The cohort comprising 42 maternal cancer cases and 294 non-cancer cases enrolled from January 2016 to December 2017 was utilized to develop a method named mean of the top five chromosome z scores (MTOP5Zscores). The remaining 160 participants enrolled from January 2018 to June 2019 were used to validate the performance of MTOP5Zscores. We established a random forest model to classify three common cancer types using normalized Pearson correlation coefficient (NPCC) values, z scores of 22 chromosomes, and seven plasma tumor markers (PTMs) as predictor variables. Results: 62 maternal cancer cases were confirmed with breast cancer, liver cancer, and lymphoma, the most common cancer types. MTOP5Zscores showed a sensitivity of 85% (95% confidence interval (CI), 62.11–96.79%) and specificity of 80% (95% CI, 72.41–88.28%) in the detection of maternal cancer among pregnant women with MCA results. The sensitivity of the classifier was 93.33, 66.67, and 50%, while specificity was 66.67, 90, and 97.06%, and positive predictive value (PPV) was 60.87, 72.73, and 80% for the prediction of breast cancer, liver cancer, and lymphoma, respectively. Conclusion: This study presents a solution to identify maternal cancer patients from pregnant women with MCA results using NIPT, indicating it as a value-added application of NIPT in the detection of maternal malignancies in addition to screening for fetal aneuploidies with no extra cost. [ABSTRACT FROM AUTHOR]

This study was to assess the alteration of circulating complement factor Ba (CFBa) within 11 to 17 weeks of gestation and its association with subsequent gestational diabetes mellitus (GDM) and its delivery outcome. Biochemical parameters and blood samples were collected from 399 pregnant women within 11 to 17 weeks of gestation. At 24 to 28 weeks of gestation, all participants underwent 75-g oral glucose tolerance test and were assigned to GDM group (n = 80) and normal control group (n = 319). Perinatal data were collected after delivery. A propensity score-matched (PSM) analysis was performed to reduce the impact of confounding factors on glucose metabolism during pregnancy between the two groups. Two groups of 74 well-matched patients who maintained balance in terms of baseline characteristics. The levels of CFBa in pregnant women who later developed GDM were significantly higher than those in healthy pregnant women [0.4(0.1–0.8) vs. 0.2(0.2–0.3), p = 0.024]. Logistic regression analysis results confirmed that the level of CFBa was an independent impact factor for the occurrence of GDM (OR = 1.57, 95% CI: 1.118–2.210, p = 0.009). Further grouping according to the median level of CFBa, it was found that the incidence of GDM in category two (>0.23 ng/ml, n = 74) was markedly higher than that in the first category (≤0.23 ng/ml, n = 74) (p = 0.021). High level of the CFBa within 11 to 17 weeks of gestation increases the risk of subsequent GDM, and maybe a biomarker for predicting GDM. [ABSTRACT FROM AUTHOR]

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

Background: The broad application of high-resolution chromosome detection technology in prenatal diagnosis has identified copy number loss (CNL) involving autosomal dominant (AD) genes in certain fetuses. Exon sequencing of fetuses exhibiting structural anomalies yields diagnostic information in up to 20% of cases. However, there is currently no relevant literature about the genetic origin and pregnancy outcome of CNL involving AD genes in fetuses without structural abnormalities. Results: This was a prospective study involving pregnant women who underwent amniocentesis for fetal copy number variation sequencing (CNVseq). Detection of parent-of-origin was suggested in cases of samples with CNL involving AD genes and the pregnancy outcome was monitored. Amniotic fluid samples from 24,844 fetuses without structural abnormalities were successfully tested via CNVseq. The results showed that 134 fetuses (0.5%) had small CNL (< 10 Mb) containing AD genes, after excluding microdeletion and microduplication syndrome and polymorphisms. By monitoring the pregnancy outcomes of the 134 fetuses, we found that 104 (77.6%) were good, 13 (9.7%) were adverse, and 17 (12.7%) pregnant women voluntarily chose to terminate pregnancy. Of the 13 fetuses with adverse pregnancy outcomes, only 2 fetuses had phenotypes consistent with those of diseases caused by AD genes involved in CNL. Conclusions: The overall prognosis for fetuses without family history or structural abnormalities but with small CNL containing AD genes detected during pregnancy is good. The genetic origin, overlap status of established haploinsufficient gene and/or region, size of the CNL, and genetic mode may affect the pathogenicity of the CNL. [ABSTRACT FROM AUTHOR]

Objective. To explore the status quo of psychological resilience, mindfulness level, the sleep quality of pregnant women by Prenatal Diagnosis Screening, and the mediating effect of psychological resilience on sleep quality and mindfulness. Methods. A survey of 298 pregnant women was conducted using the psychological resilience scale, Pittsburgh sleep quality index, and the concise version of the five-factor mindfulness scale. Results. The total score of psychological resilience of pregnant women was (68.96 ± 17.27), mindfulness was (77.25 ± 12.65), the median of total sleep quality was 6, and the detection rate of sleep disorders was 31.9%. The sleep quality of pregnant women was negatively correlated with mindfulness level and psychological resilience (p < 0.01), and mindfulness level was positively associated with psychological resilience (p < 0.01). Bootstrap analysis showed that psychological resilience played an 14.1% mediating role between mindfulness and sleep quality. Conclusion. The psychological resilience of pregnant women is low, sleep quality is poor, and mindfulness is mild to moderate. Psychological resilience plays an important role in mediating between mindfulness level and sleep quality that suggests nursing staff should pay attention to and improve the psychological resilience of pregnant women screened by prenatal diagnosis to improve the mindfulness level and sleep quality of pregnant women screened by prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Background: Birth defects are responsible for approximately 7% of neonatal deaths worldwide by World Health Organization in 2004. Many methods have been utilized for examining the congenital anomalies in fetuses. This study aims to investigate the efficiency of simultaneous CNV-seq and whole-exome sequencing (WES) in the diagnosis of fetal anomaly based on a large Chinese cohort.Methods: In this cohort study, 1800 pregnant women with singleton fetus in Hubei Province were recruited from 2018 to 2020 for prenatal ultrasonic screening. Those with fetal structural anomalies were transferred to the Maternal and Child Health Hospital of Hubei Province through a referral network in Hubei, China. After multidisciplinary consultation and decision on fetal outcome, products of conception (POC) samples were obtained. Simultaneous CNV-seq and WES was conducted to identify the fetal anomalies that can compress initial DNA and turnaround time of reports.Results: In total, 959 couples were finally eligible for the enrollment. A total of 227 trios were identified with a causative alteration (CNV or variant), among which 191 (84.14%) were de novo. Double diagnosis of pathogenic CNVs and variants have been identified in 10 fetuses. The diagnostic yield of multisystem anomalies was significantly higher than single system anomalies (32.28% vs. 22.36%, P  = 0.0183). The diagnostic rate of fetuses with consistent intra- and extra-uterine phenotypes (172/684) was significantly higher than the rate of these with inconsistent phenotypes (17/116, P  = 0.0130).Conclusions: Simultaneous CNV-seq and WES analysis contributed to fetal anomaly diagnosis and played a vital role in elucidating complex anomalies with compound causes. [ABSTRACT FROM AUTHOR]

Objective: Sickle cell disease (SCD) is a major genetic disease that occurs early in childhood and can cause considerable morbidity and even death. Newborn screening (NBS) is one of the effective health services that have lowered the burden of SCD in wealthy countries. Surprisingly, NBS programs are essentially non-existent in subSaharan Africa, where the majority of babies are born with this condition. The objective of this study was to determine the level of acceptability of NBS and the factors influencing it in the population of Lubumbashi city in the Democratic Republic of the Congo. Material and Methods: From December 1, 2020, to December 31, 2020, data on sociodemographic characteristics, knowledge, and attitudes related to NBS for SCD were collected from 2032 adults in Lubumbashi city using a semi-structured and pre-tested questionnaire. Results: There was a good knowledge of SCD as a hereditary blood disorder (77.7%). NBS's acceptability rate was 84.5%. Age (P = 0.002), sex (P = 0.025), and religion (p<0.001) were found to be significantly associated with the NBS acceptability. Conclusion: According to the findings of this study, NBS is widely accepted in Lubumbashi. The primary challenges to its adoption are likely to be financial and practical rather than social or cultural. [ABSTRACT FROM AUTHOR]

Although the non-invasive prenatal test has very high sensitivity and specificity as a screening test, few false positive and false negative results have been reported. Since it is performed in the early weeks of pregnancy, this test reduces the need for invasive testing, and its prevalence and scope are gradually increasing. However, the fact that this test can be performed outside of medical reasons causes important ethical problems and controversy. Consultancy and informed consent are very important for the optimum non-invasive prenatal test offered to pregnant women. Ethical issues such as avoiding harm, equality, inclusiveness, autonomy and free choice of the pregnant woman and her partner should be addressed. [ABSTRACT FROM AUTHOR]

Purpose: Women with high-risk pregnancies are often required to make choices about further prenatal testing for Down syndrome, but the decisional conflict they face is poorly understood. This study aimed to test the validity and reliability of the Mandarin version of the decisional conflict scale (M-DCS) in Chinese women with high-risk pregnancies making choices about further prenatal testing for Down syndrome. Patients and Methods: A methodological study was conducted to determine the psychometric properties of the M-DCS, specially, reliability and content, construct, and concurrent validity. The convenience sample comprised 240 pregnant women with high risk for Down syndrome attending the out-patient clinic of the study hospital in Guangzhou, China. Results: The five-factor model of M-DCS was supported by confirmatory factor analysis with a satisfactory fit to the data (RMSEA < 0.08, RMR < 0.05, GFI, CFI, NFI, and IFI all > 0.90, except AGFI=0.88 PNFI = 0.76). The internal consistency of the M-DCS was high, with Cronbach's ? of 0.94. Conclusion: The reliability and validity (content, construct, and concurrent) of the M-DCS were all demonstrated as good. This instrument is an important tool for researchers and health-care providers working with women with high-risk pregnancies who need to make choices about further prenatal testing for Down syndrome. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the diagnostic value of the BACs-on-Beads (BoBs) assay for the rapid diagnosis of common aneuploidies and microdeletions.Methods: A total of 4961 pregnant women admitted to the Wuxi Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University from January 2017 to March 2019 were enrolled. BoBs assay and conventional karyotyping were applied to detect amniotic fluid samples with various indications for prenatal diagnosis. Chromosomal microarray analysis (CMA) and maternal cell contamination (MCC) tests were used for further validation.Results: The overall abnormality detection rates (BoBs associated with karyotyping) were 4.25% (211/4961). The prenatal diagnosis success rate of karyotyping was 99.4% (4933/4961), compared to 100% (4961/4961) using the BoBs assays. The BoBs assay was similar to karyotyping for the detection of trisomy 21 (1.01%, 50/4961), trisomy 18 (0.40%, 20/4961), trisomy 13 (0.04%, 2/4961), and sex chromosomal aneuploidies (0.15%, 12/4961). The BoBs assay also identified sex chromosomal microduplications/microdeletions (1.73%, 86/4961), 22q11.2 microdeletions/microduplications (0.1%, 5/4961), and Cri du Chat syndrome (0.02%, 1/4961) which were missed by karyotyping. The sensitivity for the detection of numerical chromosomal abnormalities of the BoBs assay and karyotyping analysis was 100% (95/95, 95% CI: 1.0-1.0) and 98.9% (94/95, 95% CI: 0.969-1.010), respectively. The sensitivity of detecting structural chromosomal abnormalities in the BoBs assay was significantly higher than those of karyotyping (79.3%, 92/116, 95% CI: 0.718-0.868) versus 21.6% (25/116, 95% CI: 0.140-0.291) (p < .01).Conclusions: The BoBs assay is a reliable and rapid test for the detection of common aneuploidies and nine microdeletion syndromes with high sensitivity and accuracy in prenatal diagnosis. The assay can compensate for the limitations of karyotyping analysis. [ABSTRACT FROM AUTHOR]

Background: The importance of adequate choline intake during pregnancy has been well documented, but low intake is common. Total choline intake, main food sources of choline, as well as associations between choline intake and egg and dairy consumption were determined in a sample of pregnant women attending the high-risk antenatal clinic at a regional hospital in Bloemfontein, South Africa.Methods: A cross-sectional study design was used. Trained fieldworkers collected dietary intake data using a validated quantified food frequency questionnaire (QFFQ), after which all food items were matched to foods in the USDA Database for the Choline Content of Common Foods (Release 2) to quantify choline intake. Logistic regression with backward selection (p < 0.05) was used to determine whether egg and dairy consumption were independently associated with a choline intake below the adequate intake (AI) level.Results: The median daily intake of choline was 275 mg (interquartile range 185 mg - 387 mg) (N = 681). Most participants (84.7%) consumed less than the AI of 450 mg/day for choline. Meat and meat products, cereals, eggs and dairy contributed mostly to choline intake. Food items that contributed most to choline intake included full-cream milk, maize porridge, brown bread, deep-fried potatoes and deep-fried dough (vetkoek). A choline intake below the AI was significantly associated with lower egg and dairy intakes (p < 0.0001 and p = 0.0002 respectively).Conclusion: Most pregnant women in the current study had choline intakes below the AI. It is recommended that public health messaging targeted at pregnant women promote the consumption of foods that can significantly contribute to choline intake, such as eggs and dairy. [ABSTRACT FROM AUTHOR]

Context: Cortisol and dehydroepiandrosterone‐sulfate (DHEA‐S) are indispensable hormones for normal pregnancy. It is unclear if these hormones, specifically DHEA‐S can offer value for predicting poor birth outcome. Objective: To compare prenatal cortisol and DHEA‐S levels among pregnant women with normal or poor birth outcome. Methods: Plasma and saliva were collected prospectively from women in second‐third trimester of pregnancy. Women with normal birth outcome (NBO) (n = 501) included live birth, no pregnancy complications and ≥2.5 kg infant birth weight. Women with poor birth outcome included adverse birth outcome (ABO) (n = 50) or low birth weight outcome (LBW) (n = 147). Enzyme‐linked immunosorbent assay was performed to measure hormone concentrations in plasma and saliva. Results: Circulatory‐DHEA‐S levels in pregnant women with ABO were higher than women with NBO (p =.043). Among ABO, only stillbirth cases demonstrated significant increase in circulatory‐DHEA‐S levels (p =.006). Circulatory and salivary cortisol/DHEA‐S ratio was lower among women with stillbirth (p =.004) and ABO outcome (p =.043) respectively compared with women with NBO. Consistently, increased odds of ABO were observed in pregnant women with highest circulatory‐DHEA‐S levels (odds ratio quartile score 1 vs. 4, 2.79, p =.027) and lowest salivary cortisol/DHEA‐S ratio (score 4 vs. 2, 2.83, p =.025). Increased odds of stillbirth outcome were observed in pregnant women with highest circulatory‐DHEA‐S levels (odds ratio quartile score 1 vs. 4, 8.47, p =.046) and lowest circulatory cortisol/DHEA‐S ratio (score 4 vs. 1, 4.803, p =.048). Associations remained significant after adjusting for confounders. Women with LBW did not demonstrate significant changes in cortisol or DHEA‐S levels. Conclusion: Prenatal measurement of DHEA‐S or cortisol/DHEA‐S ratio may offer significant value for predicting adverse birth, specifically stillbirth outcome. [ABSTRACT FROM AUTHOR]

In the United States, the common approach to detecting gestational diabetes mellitus is the 2-step protocol recommended by the American College of Obstetricians and Gynecologists. A 50 g, 1-hour glucose challenge at 24 to 28 weeks' gestation is followed by a 100 g, 3-hour oral glucose tolerance test when a screening test threshold is exceeded. Notably, 2 or more elevated values diagnose gestational diabetes mellitus. The 2-step screening test is administered without regard to the time of the last meal, providing convenience by eliminating the requirement for fasting. However, depending upon the cutoff used and population risk factors, approximately 15% to 20% of screened women require the 100 g, 3-hour oral glucose tolerance test. The International Association of Diabetes and Pregnancy Study Groups recommends a protocol of no screening test but rather a diagnostic 75 g, 2-hour oral glucose tolerance test. One or more values above threshold diagnose gestational diabetes mellitus. The 1-step approach requires that women be fasting for the test but does not require a second visit and lasts 2 hours rather than 3. Primarily because of needing only a single elevated value, the 1-step approach identifies 18% to 20% of pregnant women as having gestational diabetes mellitus, 2 to 3 times the rate with the 2-step procedure, but lower than the current United States prediabetes rate of 24% in reproductive aged women. The resources needed for the increase in gestational diabetes mellitus are parallel to the resources needed for the increased prediabetes and diabetes in the nonpregnant population. A recent randomized controlled trial sought to assess the relative population benefits of the above 2 approaches to gestational diabetes mellitus screening and diagnosis. The investigators concluded that there was no significant difference between the 2-step screening protocol and 1-step diagnostic testing protocol in their impact on population adverse short-term pregnancy outcomes. An accompanying editorial concluded that perinatal benefits of the 1-step approach to diagnosing gestational diabetes mellitus "appear to be insufficient to justify the associated patient and healthcare costs of broadening the diagnosis." We raise several concerns about this conclusion. The investigators posited that a 20% improvement in adverse outcomes among the entire pregnancy cohort would be necessary to demonstrate an advantage to the 1-step approach and estimated the sample size based on that presumption, which we believe to be unlikely given the number of cases that would be identified. In addition, 27% of the women randomized to the 1-step protocol underwent 2-step testing; 6% of the study cohort had no testing at all. A subset of women assigned to 2-step testing did not meet the criteria for gestational diabetes mellitus but were treated as such because of elevated fasting plasma glucose levels, presumably contributing to the reduction in adverse outcomes but not to the number of gestational diabetes mellitus identified, increasing the apparent efficacy of the 2-step approach. No consideration was given to long-term benefits for mothers and offspring. All these factors may have contributed to obscuring the benefits of 1-step testing; most importantly, the study was not powered to identify what we understand to be the likely impact of 1-step testing on population health. [ABSTRACT FROM AUTHOR]

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Introduction: The presence of an unbalanced familial translocation can be reliably assessed in the cytotrophoblast of chorionic villi. However, carriers of a balanced translocation often decline invasive testing. This study aimed to investigate whether an unbalanced translocation can also be diagnosed in cell free DNA by whole‐genome non‐invasive prenatal screening (NIPS). Material and methods: Pregnant women carrying a fetus with an unbalanced familial translocation, for whom NIPS as well as microarray data were available, were included in this retrospective assessment. NIPS was performed in the course of the TRIDENT study. Results: In 12 cases, both NIPS and microarray data were available. In 10 of 12 cases the unbalanced translocation was correctly identified by NIPS without prior knowledge on parental translocation. One was missed because the fetal fraction was too low. One was missed because of technical restrictions in calling 16p gains. Conclusions: This study supports the hypothesis that routine NIPS may be used for prenatal diagnosis of unbalanced inheritance of familial translocations, especially with prior knowledge of the translocation allowing focused examination of the involved chromosomal regions. Our study showed that routine shallow sequencing designed for aneuploidy detection in cell free DNA may be sufficient for higher resolution NIPS, if specialized copy number software is used and if sufficient fetal fraction is present. [ABSTRACT FROM AUTHOR]

Background: Non-invasive prenatal testing (NIPT) is a relatively new technology for diagnosis of fetal aneuploidies in the context of a developing country like Vietnam. Currently, first-trimester screening (FTS) is more conventional in Vietnam. NIPT is assumed to be more accurate than other maternal screening but is also more costly. The purpose of the study was to perform a cost-utility analysis comparing the FTS and NIPT for Down syndrome for high-risk pregnant women (over 35-year-old) in Vietnam. Methods: Decision tree model and probabilistic sensitivity analysis were used. Results: With the modelling population of 27,232 over 35 years of age pregnant women, FTS helps detect 218.5 cases of the fetus with Down syndrome compared with 247.2 cases when screening with NIPT. In addition, NIPT reduced 1384 false-positive cases compared to FTS. From a societal perspective, NIPT-dominated FTS. Compared to FTS, adopting an NIPT would cost an additional of USD 3,800 for each additional quality-adjusted life-year gained. Conclusions: NIPT is a cost-effective alternative to FTS for prenatal screening for Down syndrome with high-risk pregnant women. This is a very first attempt on cost-utility analysis of prenatal screening methods for Down syndrome in Vietnam and recommendations are made for future research to determine the most cost-effectiveness methods. [ABSTRACT FROM AUTHOR]

Aim: This study aims to investigate the concerns of Iranian pregnant women in the antenatal anomaly screening process (AASP) and propose an intervention to reduce these concerns. Design: This exploratory sequential mixed‐methods study is conducted in three stages (qualitative, intervention design and quantitative), in Tehran. Methods: A qualitative study is carried out to collect pregnant women's concerns during the AASP. Then, a two‐step procedure is implemented. In the first step (expert session), the concerns extracted in the qualitative part are prioritized. Next, the interventions used to reduce the concerns of pregnant women in the AASP are reviewed by considering the priority determined in the previous stage. The information obtained from this step is used to design intervention. Ultimately, a randomized controlled trial is used to evaluate the effectiveness of the intervention. Discussion: The results can be used for framing policies in health systems to address pregnant women's concerns in the AASP and to promote their mental health. [ABSTRACT FROM AUTHOR]

Reproductive genetic screening has introduced the possibility for pregnant women to learn, during the pregnancy or sometimes earlier, about the likelihood of their baby being affected with certain genetic conditions. As medicine progresses, the options afforded by this early information have expanded. This has led to a shifting paradigm in prenatal screening, wherein the early knowledge is seen as useful not solely for its inherent value to the pregnant woman, but also as enabling an expansion of conditions whose identification may allow early intervention and clinical impact. This article discusses this paradigm against the backdrop of prenatal genetic screening that is available today. [ABSTRACT FROM AUTHOR]

By implementation of non-invasive prenatal testing (NIPT) for the diagnosis of Down syndrome (DS) in maternity care, an ethical debate is newly inflamed how to deal with this information. Fears of the consequences of an increased use of NIPT are justified with the same arguments when amniocentesis and preimplantation genetic diagnosis (PGD) were introduced decades ago. It can be expected that the prevalence of people with DS would significantly increase in Western societies as a result of the increasing age of pregnant women and the improved medical care for people with DS. The net effect as to whether an increasing uptake of NIPT will result in more abortions of fetuses with trisomy 21 cannot be reliably estimated. This holds true since more and more couples will use results of NIPT for information only, but will not opt for termination of pregnancy. Although parents love their children with DS, in a society where reproductive autonomy is seen as an achievement, access to NIPT cannot be limited. On this background, comprehensive and qualified pretest counseling is vital, also to avoid possible stigmatization of people with DS and as the resulting consequence to avoid feared deterioration in their living conditions, for which, however, there is no evidence to date. The personal view of a mother of a child with DS illustrates the complexity in dealing with NIPT, which does not allow simple answers and must be understood as a challenge for society as a whole. [ABSTRACT FROM AUTHOR]

Aim: We aimed to evaluate the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of noninvasive prenatal testing (NIPT) in high‐risk pregnant women. Methods: Pregnant women who underwent GeneTech NIPT, the most commonly used NIPT in Japan, between January 2015 and March 2019, at Japan NIPT Consortium medical sites were recruited for this study. The exclusion criteria were as follows: pregnant women with missing survey items, multiple pregnancy/vanishing twins, chromosomal abnormalities in the fetus other than the NIPT target disease, and nonreportable NIPT results. Sensitivity and specificity were calculated from the obtained data, and maternal age‐specific PPV and NPV were estimated. Results: Of the 45 504 cases, 44 263 cases fulfilling the study criteria were included. The mean maternal age and gestational weeks at the time of procedure were 38.5 years and 13.1 weeks, respectively. Sensitivities were 99.78% (95% confidence interval [95% CI]: 98.78–99.96), 99.12% (95% CI: 96.83–99.76), and 100% (95% CI: 88.30–100) for trisomies 21, 18, and 13, respectively. Specificities were more than 99.9% for trisomies 21, 18, and 13, respectively. Maternal age‐specific PPVs were more than 93%, 77%, and 43% at the age of 35 years for trisomies 21, 18, and 13, respectively. Conclusion: The GeneTech NIPT data showed high sensitivity and specificity in the detection of fetal trisomies 21, 18, and 13 in high‐risk pregnant women, and maternal age‐specific PPVs were obtained. These results could provide more accurate and improved information regarding NIPT for genetic counseling in Japan. [ABSTRACT FROM AUTHOR]

Aims: To analyse the effect of decision aids (DAs) used by pregnant women on prenatal testing decisions. Design: Systematic review and meta‐analysis. Data resources: We searched Embase, PubMed, Web of Science and the Cochrane Central Library ending October 2020. Review methods: Papers were selected for analysis in accordance with the PRISMA guidelines. The meta‐analysis was carried out using Review Manager 5.3 software. The quality of the studies was assessed using the risk of bias tool recommended by the Cochrane Handbook. The result is knowledge, decision conflict, anxiety and other secondary outcomes. Results: A total of 18 studies were included in the systematic review and meta‐analysis. Comprehensive analysis showed that DAs could significantly improve knowledge and decision‐making satisfaction, reduce decision conflict, increase the proportion of women who make informed choice and had no influence on anxiety and decision regret. Conclusions: This article systematically reviewed the positive effect of DAs on the decision‐making of pregnant women facing prenatal testing. In the future, nurses should be encouraged to develop DAs in accordance with strict standards and apply them to pregnant women of different backgrounds. Impact: There is a growing consensus that health care should be patient‐centred, and the values and preferences of pregnant women who undergo prenatal testing need to be incorporated into the clinical decision‐making process. This review reports that the use of DAs can increase pregnant women's chances of participating in prenatal testing decisions and may improve the quality of their decision‐making. It also provides information on the role and practice of nurses in promoting evidence‐based prenatal testing for DAs. [ABSTRACT FROM AUTHOR]

Aim: The aim of this study is to evaluate the effect of education and counselling on prenatal screening and diagnostic tests on pregnant women's decisional conflict, anxiety levels and attitudes towards the tests. Background: Clinical practice guidelines recommend prenatal genetic counselling for pregnant women before participation in the tests. Methods: A total of 210 pregnant women participated in the study by completing the State–Trait Anxiety Inventory‐I, Decisional Conflict Scale, SURE Scale, Knowledge Assessment Forms, Decision Satisfaction Form and Attitudes Scale between June 2017 and March 2018. In the first stage, pregnant women were evaluated who had only prenatal genetic screening tests and in the second stage, pregnant women who had been recommended to receive diagnostic tests. The intervention group received face‐to‐face individual education and counselling about prenatal genetic tests. Independent samples t test, t tests and Pearson correlation tests were used. Results: Education and counselling for prenatal screening tests and diagnostic tests from the first weeks of pregnancy were effective in decreasing anxiety, decisional conflict, increasing attitudes towards tests and had positive effects on pregnant women's knowledge level and decision satisfaction (P < 0.005). Conclusion: Prenatal genetic counselling and education are more effective if provided from the first weeks of pregnancy. Decreasing anxiety, decisional conflict and increasing knowledge levels of pregnant women are important to make informed decisions. Summary statement: What is already known about this topic? Prenatal genetic screening and diagnostic tests have been done for many years.ACOG and clinical practice guidelines recommend prenatal genetic counselling for pregnant women before participation in the tests. What this paper adds? This study is the first randomized controlled trial to assess the effect of prenatal genetic education and counselling from the first gestational weeks of pregnant women.Our results show that prenatal genetic education and counselling is more effective if provided from the first weeks of pregnancy.Prenatal genetic screening and diagnostic test education and counselling provided to pregnant women decrease their anxiety and decisional conflict, increase their decision satisfaction on prenatal tests and lead to more positive attitudes. The implications of this paper: This study provides an evaluation of education and counselling for both prenatal screening and diagnostic testing.Education and counselling programme that we used in this study can be successfully implemented into nursing and midwifery practice. [ABSTRACT FROM AUTHOR]

The article focuses on the frequency of perinatal hepatitis C cases among children exposed during 2018–2020 in seven U.S. jurisdictions, revealing that only one-third of the expected cases were reported to public health authorities. Topics include the challenges in testing and surveillance, the Centers for Disease Control and Prevention's recommendations for earlier HCV RNA testing, and the observed gap in testing patterns for children perinatally exposed to hepatitis C.

Objective: The purpose of this study was to retrospectively examine the use of lung‐to‐liver signal intensity ratio (LLSIR) on T2‐weighted images to predict functional pulmonary hypoplasia. Methods: The subjects of this study were pregnant women who underwent magnetic resonance imaging (MRI). Patients who required nitric oxide inhalation and those who died from respiratory disorders were classified as having functional pulmonary hypoplasia (FPH). All other cases were presented as the control group. We retrospectively analyzed MRI and perinatal data. LLSIR was defined as the ratio of lung signal intensity to liver signal intensity. We examined the relationship between LLSIR and gestational age, compared the LLSIRs in the two groups, and calculated the best cut‐off value of the LLSIR to predict FPH. Results: One hundred and ninety‐one patients were eligible for this study, and 12 cases were classified as having FPH. In the control group, LLSIR increased with age (r = 0.383, p < 0.001). We used the observed/expected LLSIR (o/e LLSIR), which was the ratio of obtained LLSIR to expected LLSIR calculated by the regression line to correct the effect of gestational age. In the FHP group, o/e LLSIR was significantly lower than in the control group (p < 0.001). A receiver operating characteristic curve analysis showed that cases with o/e LLSIR above 0.85 were less likely to cause FPH. Conclusions: Low o/e LLSIR might reflect the histological characteristics of hypoplastic lung structures. O/e LLSIR seems to be a useful MRI parameter for screening FPH. [ABSTRACT FROM AUTHOR]

Purpose: We retrospectively analyzed the results of prenatal diagnosis in women with high-risk (HR) serological screening results, and discussed the reasonable application of diagnostic testing. Patients and Methods: Diagnostic testing was done in 2239 pregnant women who had HR results from serological screening in two prenatal diagnosis centers. According to the HR results, they were divided into simple HR, HR combined with ultrasound abnormalities, and HR combined with other indication groups. After receiving counselling from clinicians, they were allowed to choose either the traditional karyotype analysis and/or chromosomal microarray analysis (CMA). Results: Those who underwent CMA comprised 49.3%, 97.6%, and 100% of the HR group, HR combined with ultrasound abnormalities, and HR combined with other indication groups, respectively. Among the 100 (4.47%) clinically significant results, 55 (2.46%), 15 (0.67%), and 30 (1.34%) were chromosomal aneuploidies, chromosomal structural abnormalities, and pathogenic copy number variations (CNVs), respectively. The rate of abnormalities was 3.77%, 13.71%, and 19.05% in the simple HR, HR combined with ultrasound abnormalities, and HR combined with other indication groups, respectively. The increasing rate of clinical pathogenic CNVs was 1.34% using CMA in HR pregnant women, 9.52% in the HR combined with other indication group, and 1.24% in the simple HR group. Among the 573 women who chose both diagnostic tests, 45 had abnormal results. Only one case detected using karyotype analysis was missed on CMA. The incidence of chromosomal aneuploidy tended to increase with increase in HR values. However, chromosomal structural abnormalities and pathogenic CNVs did not increase. Conclusion: CMA should be recommended as the first-line diagnostic testing for women with HR screening results, especially combined with other abnormal indications. [ABSTRACT FROM AUTHOR]

It was aimed to evaluate the levels of maternal serum proprotein convertase subtilisin/kexin type 9 (PCSK9) in pregnant women with a fetus diagnosed with open neural tube defects (NTDs). This case‐control study included 38 pregnant women carrying fetuses with open NTDs and 44 age‐matched, pregnant women with no specified risk factors. Comparisons were made of the groups in respect of demographic and clinical data and PCSK9 levels. To examine the performance of PCSK9 levels in the prediction of fetal open NTDs, receiver operating characteristic (ROC) curve analysis was used. In the first and second trimesters, PCSK9 levels were determined to be lower in the NTD group than in the control group (p = 0.010 and p = 0.015, respectively). In the first trimester, the lower PCSK9 levels in the NTD group were not statistically significant (p = 0.575). In the second trimester, the ROC curve value with the best balance of sensitivity/specificity for PCSK9 was 71.9 ng/ml (84.6% sensitivity, 51.7% specificity) and in the first and second trimester combined, 74.4 ng/ml (81.6% sensitivity, 45.5% specificity) (p = 0.015, p = 0.036, respectively). PCSK9 may be involved in the etiopathogenesis of open NTDs at the critical steps of fetal neuronal differentiation. Although it has limitations, PCSK9 may be used as an additional biomarker for the screening of NTDs. [ABSTRACT FROM AUTHOR]

Background: Selective fetal restriction growth (sFGR) is one of the common diseases of monochorionic diamniotic (MCDA) twin pregnancies, resulting in many adverse outcomes. At present, second trimester ultrasonography is widely used in the prenatal diagnosis of sFGR, but the diagnostic effectiveness is still uncertain. The aim of this study is to assess the diagnostic accuracy of second trimester Doppler ultrasound measurements for sFGR. Methods: A retrospective study included 280 pregnant women (118 with and 162 without sFGR) with MCDA pregnancies was conducted in the fetal medicine center from Leiden University Medical Center from January 2008 to December 2013. The women participating had already undergone an ultrasound examination in the second trimester. The postnatal criteria of sFGR was a single birth weight (BW) < 3 rd percentile in a twin, or birth weight discordance (BWD)≥25% between two twins, while the BW of the smaller twin < 10th percentile. Early prenatal diagnosis of sFGR was defined as a single EFW < 3 rd percentile in a twin, or at least 2 of the following 4 parameters must be met (fetal weight of one fetus < 10th percentile, AC of one fetus <10th percentile, EFW discordance≥25%, UA pulsatility index (PI) of the smaller fetus > 95th percentile). According to the diagnosis of sFGR after birth, we evaluate diagnostic effectiveness of Doppler ultrasound in the second trimester for sFGR. Results: Of these 280 participants, the mean age was 32.06 ± 4.76 years. About 43.9% of pregnant women were primiparas. The ability of second trimester Doppler ultrasound to accurately diagnosed sFGR is 75.4%, missed diagnosis rate and the misdiagnosis rate were 24.6% and 10.5% respectively. The ROC curve indicated that the combination of AC discordance, EFW discordance, and small fetal UA blood flow was the best diagnostic indicator of sFGR in MCDA pregnancy with the AUC was 0.882 (95%CI, 0.839–0.926). Conclusions: Second trimester Doppler and ultrasound measurements is an effective method for early prenatal diagnosis of sFGR. The combined indicator of AC discordance, EFW discordance, and the small fetal UA blood flow reaches highest diagnostic value. [ABSTRACT FROM AUTHOR]

Background: The non-invasive prenatal test (NIPT) is based on next generation sequencing (NGS) and is used for screening for fetal trisomy. However, it is time-consuming and technically difficult. Recently, peptide nucleic acid (PNA) probe-based real-time polymerase chain reaction (RT-PCR) was developed. This study aimed to examine the performance of the RT-PCR-based NIPT for screening of common fetal trisomies Methods: From stored maternal plasma, RT-PCR was performed using Patio™ NIPT Detection Kit. In melting curve analysis, the height of melting peaks of target chromosome and reference chromosome was calculated as a peak ratio. The adjusted peak ratio of 8 markers with correction factors in each target chromosome was summated and calculated to z-score. The cut-off value for each target chromosome was established for classification (low risk vs. high risk for trisomy) whose performance was obtained in the validation phase. Results: 330 plasma samples from pregnant women with normal fetus and 22 trisomy cell-line samples were used to establish the optimal cut-off values for z-score of each target chromosome. In the validation phase, 1023 samples from pregnant women including 22 cases with fetal trisomy and 1001 cases of normal control were used. The RT-PCR-based NIPT showed 95.45% sensitivity [95% confidence interval (CI) 77.16–99.88%], 98.60% specificity (95% CI 97.66–99.23%), and 98.53% accuracy (95% CI 97.59–99.18%) for the identification of trisomy 21, 18, or 13. Of 1023 samples, fifteen cases were mismatched for classification [one case as a false negative (false negative rate: 4.5%) and 14 cases as false positives (false positive rate: 1.4%)]. Conclusion: The RT-PCR-based NIPT showed high sensitivity and specificity for the detection of common fetal trisomies and it could be a feasible alternative to NGS-based NIPT. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the effectiveness of non-invasive prenatal screening (NIPS) in prenatal screening of fetal pathogenic copy number variants (CNVs). Materials and Methods: We evaluated the prenatal screening capacity using traditional and retrospective approaches. For the traditional method, we evaluated 24,613 pregnant women who underwent NIPS; cases which fetal CNVs were suggested underwent prenatal diagnosis with chromosomal microarray analysis (CMA). For the retrospective method, we retrospectively evaluated 47 cases with fetal pathogenic CNVs by NIPS. A systematic literature search was performed to compare the evaluation efficiency. Results: Among the 24,613 pregnant women who received NIPS, 124 (0.50%) were suspected to have fetal CNVs. Of these, 66 women underwent prenatal diagnosis with CMA and 13 had true-positive results. The positive predictive value (PPV) of NIPS for fetal CNVs was 19.7%. Among 1,161 women who did not receive NIPS and underwent prenatal diagnosis by CMA, 47 were confirmed to have fetal pathogenic CNVs. Retesting with NIPS indicated that 24 of these 47 cases could also be detected by NIPS, representing a detection rate (DR) of 51.1%. In total, 10 publications, namely, six retrospective studies and four prospective studies, met our criteria and were selected for a detailed full-text review. The reported DRs were 61.10–97.70% and the PPVs were 36.11–80.56%. The sizes of CNVs were closely related to the accuracy of NIPS detection. The DR was 41.9% (13/31) in fetuses with CNVs ≤ 3 Mb, but was 55.0% (11/20) in fetuses with CNVs > 3 Mb. Finally, to intuitively show the CNVs accurately detected by NIPS, we mapped all CNVs to chromosomes according to their location, size, and characteristics. NIPS detected fetal CNVs in 2q13 and 4q35. Conclusion: The DR and PPV of NIPS for fetal CNVs were approximately 51.1% and 19.7%, respectively. Follow-up molecular prenatal diagnosis is recommended in cases where NIPS suggests fetal CNVs. [ABSTRACT FROM AUTHOR]

Background: Antenatal depression is highly prevalent but a neglected public health problem in low income countries. It has serious effects on the general health of women, birth outcomes and child health. However, there has been limited substantial evidence on the prevalence and predictors of antenatal depression in Ethiopia. This lack of evidence potentiates the consequences of the problem and can limit the attention to intervention. Thus, this study aimed to assess the prevalence and potential predictors of antenatal depression at Debre Tabor and Woreta towns, Northeast Ethiopia.Methods: A community-based cross-sectional study was employed on 548 pregnant women recruited by a cluster sampling method. Depressive symptoms were measured using the Edinburgh Postnatal Depression Scale (EPDS). The List of Threatening Experiences Questionnaire (LTE-Q), the Oslo-3 Social Support Scale (OSSS-3), Intimate Partner Violence (IPV) Scale and Fast Alcohol Screening Test (FAST) were also used to measure stressful events, social support, intimate partner violence (IPV) and hazardous alcohol use respectively. Bivariable and multivariable logistic regression analyses were carried out to identify factors associated with antenatal depression.Results: The prevalence of antenatal depression was found to be 24.45% (95% CI: 21.20, 28.30%). Being single (AOR =3.32, 95% CI = 1.36, 8.09); fear of pregnancy complication (AOR = 3.84, 95% CI = 1.53,9.62); history of chronic illness (AOR = 8.14, 95% CI = 2.14, 30.91); unplanned pregnancy (AOR = 2.99, 95% CI = 1.36,6.55); history of stillbirth (AOR = 3.56, 95% CI = 1.23, 10.29),one or more negative life events (AOR = 4.06, 95% CI = 1.71, 9.66) and intimate partner violence (AOR = 3.91, 95% CI = 1.65, 9.26) were factors significantly associated with antenatal depression.Conclusion: Nearly a quarter of pregnant women suffer from depressive symptoms during pregnancy. Being single; fear of pregnancy complication; history of chronic illness; unplanned pregnancy; history of stillbirth; one or more negative life events and intimate partner violence were important predictors of antenatal depression in this study. Health care workers should consider addressing these risk factors during a routine antenatal care. Also, integrating early screening, detection, and treatment of antenatal depression into routine antenatal care is warranted to improve the quality of life of pregnant women and pregnancy outcomes as well. [ABSTRACT FROM AUTHOR]

Background: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Prenatal screening of FXS allows for early identification and intervention. The present study explored the feasibility of FXS carrier screening during prenatal diagnosis for those who were not offered screening early in pregnancy or prior to conception. Methods: Pregnant women to be offered amniotic fluid testing were recruited for the free voluntary carrier screening at a single center between August, 2017 and September, 2019. The number of CGG repeats in the 5' un‐translated region of the fragile X mental retardation gene 1 (FMR1) was determined. Results: 4286 of 7000 (61.2%) pregnant women volunteered for the screening. Forty (0.93%), five (0.11%), and three (0.07%) carriers for intermediate mutation (45–54 repeats), premutation (55–200 repeats) and full mutation (>200 repeats) of the FMR1 gene were identified respectively. None of the detected premutation alleles were inherited by the fetuses. Of the three full mutation carrier mothers, all had a family history and one transmitted a full mutation allele to her male fetus. Conclusion: Implementation of FXS carrier screening during prenatal diagnosis may be considered for the need to increase screening for FXS. [ABSTRACT FROM AUTHOR]

Objective: There have been substantial medical developments in prenatal anomaly and aneuploidy screening. However, the quality of counseling about these tests tends to lag behind. Additional quality requirements were therefore implemented in the Netherlands in 2017 to optimize this counseling. We compared clients' counseling preferences and experiences before and after implementation of these requirements.Methods: We used the validated 57-item QUOTEprenatal questionnaire, to measure clients' counseling preferences and experiences before and after counseling in 20 obstetric organizations throughout the Netherlands. Clients' preferences and experiences were compared between pregnant women and partners, nulliparous versus multiparous clients and between results of a Dutch survey in 2011 and the current one.Results: Sixty-five counselors and 649 clients (353 pregnant women and 296 partners) participated in this study. Compared to 2011, slightly more clients considered the three QUOTEprenatal components of counseling (client-counselor relationship, health education, and decision-making support) to be either important or very important, especially decision-making support. More clients than in 2011 perceived their needs as being well addressed, with the lowest percentages for decision-making support.Conclusion: Quality requirements seem to benefit the quality of counseling, as perceived by clients.Practical Implications: Counselors should consider tailoring their decision-making support more to clients' needs. [ABSTRACT FROM AUTHOR]

When caring for pregnant women at risk for fetal thalassemia, genetic counseling is typically employed to ensure the quality of care and to fulfil individual needs. This qualitative descriptive study aimed to understand women's experiences and further refine their woman-centered care. Through a purposive sampling technique, 20 Thai women in a northeastern province participated in this study, having had undergone prenatal screening and diagnostic tests, and terminated the pregnancy or given birth. Most informants were interviewed in-depth two or three times. Data were analyzed using thematic analysis. Six caregiving themes emerged from their experiences: Theme 1, Amending ambiguity containing sub-themes of Assessing ambiguity in thalassemia, and Making clear the unknown; and Theme 2, Respecting individual difference which described the sub-themes of Assessing and accepting different values; Mother's heartbreak versus a baby living normally, Safeguarding a baby from suffering versus giving life to a baby, and Facilitating shared decisions, without using directives and coercion. Theme 3 was Prioritizing an unborn baby's well-being including the subthemes of Nourishing an unborn baby, and Reassuring an unborn baby's safety, while Theme 4 was Caring beyond courteousness that described the sub-themes of Assistance to regain emotional balance; Enhancing mental strength, and Facilitating religious and spiritual coping. Theme 5, Care given extensively to family and community involved Intervening when 'My family hurt,' and 'I hurt my family,' and Alleviating concerns over community attitude. The last theme, Reducing negative experiences with service delivery, involved sub-themes of Reducing a sense of prolonged waiting and being rushed, and Reducing a sense of limited expertise and technology. In conclusion, regarding a woman-centered approach for these women, nurses should respond to their unique psychosocial, cultural, ethical, religious, and spiritual needs, respect the woman's values, dignity, and decisions, as well as extend the care to the fetus, family, and community. [ABSTRACT FROM AUTHOR]

Recently, chromosomal microarray analysis (CMA) has been implemented as a first-tier test in pregnancies with ultrasound anomalies. However, its application for pregnancies with abnormal maternal serum screening (AMSS) only is not widespread. This study evaluated the value of CMA compared to traditional karyotyping in pregnancies with increased risk following first-or second-trimester maternal serum screening. Data from 3973 pregnancies with referral for invasive prenatal testing following AMSS were obtained from April 2016 to May 2020. Routine karyotyping was performed and single nucleotide polymorphism array was recommended. The foetuses were categorized according to the indications as AMSS only (group A) and AMSS with ultrasound anomalies (group B). CMA was performed on 713 prenatal samples. The proportion of women opting for CMA testing in both groups increased over the years. The incremental yield of clinically significant findings for pregnancies with high risk of screening results was similar to that for the foetuses with ultrasound soft markers (P > 0.05), but significantly lower than that for the foetuses with structural anomalies (P < 0.05). The total frequencies of variants of unknown significance in groups A and B showed no significant difference (P > 0.05). CMA should be performed for pregnant women undergoing prenatal invasive testing due to AMSS, especially with high-risk results, regardless of ultrasound findings. [ABSTRACT FROM AUTHOR]

Objective: To investigate the clinical value of non-invasive prenatal testing (NIPT) to screen for chromosomal abnormalities in twin pregnancies and to provide further data on NIPT manifestations in twin pregnancies. Materials and methods: In a 4-year period, 1048 women with twin pregnancies were voluntarily prospectively tested by NIPT to screen for chromosomal abnormalities by sequencing cell-free foetal DNA (cffDNA) in maternal plasma. Positive NIPT results were confirmed by karyotyping, while negative results were followed up 42 days after delivery. Results: Thirteen women had positive NIPT results as follows: 2 cases of trisomy 21 (T21), 1 of trisomy 18 (T18), 7 of sex chromosome aneuploidy (SCA), 1 of microdeletion, and 2 of microduplication. Of these 13 cases, 2 were true-positive cases confirmed by foetal karyotype analysis, namely, 1 case of T21 and 1 of microdeletion. Furthermore, the remaining 11 high-risk pregnant women were confirmed as false positive by foetal karyotyping. Thus, the combined positive predictive value (PPV) of NIPT screening for chromosomal abnormalities in twin pregnancies was 15.4% (2/13). There were no false-negative case via our follow-up results. Conclusion: Safe and rapid NIPT has a certain clinical application value; however, the PPV is limited, and the screening efficiency is not stable. Careful use should be made in the screening of chromosomal abnormalities in twin pregnancies. [ABSTRACT FROM AUTHOR]

Purpose: Noninvasive prenatal testing (NIPT) is a highly sensitive and specific method for detection of fetal chromosomal aneuploidies from maternal plasma. The objective of this study was to determine the performance of a new paired-end sequencing-based NIPT assay in 13,607 pregnancies from a single center in Germany.Methods: Samples from 13,607 pregnant women who previously underwent NIPT were analyzed using VeriSeq NIPT Solution v2 assay for presence of common fetal trisomies and monosomy X. Follow-up to determine clinical truth was carried out.Results: Of the 13,607 cases, 13,509 received a NIPT call resulting in a low study failure rate of 0.72%. There were 188 (1.4%) high-risk calls: 117 trisomy 21, 34 trisomy 18, 23 trisomy 13, one trisomy 21 + 13, and 13 monosomy X. High sensitivities and specificities of ≥ 98.89% were reported for all four aneuploidy conditions. Of the high-risk cases, clinical follow-up data were available for 77.1% (145/188). Clinical follow-up of high-risk calls revealed an overall positive predictive value of 84.8% (potential range 65.4-88.3%). NIPT results were provided for samples across a range of fetal fractions, down to 2% fetal fraction.Conclusion: The VeriSeq NIPT Solution v2 assay detected fetal chromosomal aneuploidies across a range of fetal fractions with high sensitivities and specificities observed based on known clinical outcomes, a high overall PPV, and a low failure rate. [ABSTRACT FROM AUTHOR]

Objective: This study was to report the experiences on the clinical value of noninvasive prenatal testing (NIPT) for the screening of fetal chromosomal deletions/duplications. Methods: We performed a retrospective analysis of a cohort of 20,439 pregnancies undergoing NIPT from March 2017 to September 2020 at a single center. Patients with positive NIPT results for fetal chromosomal deletions or duplications had options of invasive diagnostic testing or no further testing. The data were complied from all cases with positive NIPT results for chromosomal deletions/duplications. The positive predictive value (PPV) was calculated from tabulated data. Results: In this cohort, positive NIPT results for fetal chromosomal deletions/duplications were found in 60 pregnant women. Of the positive samples, further invasive testing was performed in 39 cases, in which 9 cases were found to be true positive. The overall PPV for chromosomal deletions/duplications was 23.1%. In addition, fetal structural anomaly was found by ultrasound examination in three cases, in which the chromosomal deletions/duplications of three cases were not verified. Moreover, an unexpected pathogenic 8p23.3 deletion was identified by invasive testing in 1 fetus with a false positive NIPT screen for 3q27.3q29 duplication. Conclusions: In summary, positive NIPT results of chromosomal deletions/duplications were not uncommon in clinical practice, whereas the PPV for the testing was low. Hence, potential risks and high percentage of false positives for these abnormal NIPT results might be informed to pregnant women before the choice made of invasive testing. [ABSTRACT FROM AUTHOR]

The current study aimed to clarify the health benefits of physical activity on the mother and fetus in the Saudi women population. Besides, it is intended to provide recommendation based on the literature and results of studies from Saudi Arabia for exercise in pregnancy to improve the general health of women in Saudi Arabia. Prenatal physical exercise enhances physical and mental health of pregnant women. It can also reduce the risk of multiple pregnancy-related complications such as; lower back pain, fluid retention and risk of gestational diabetes. All these factors can affect fetal development and life later. Multiple studies showed that prenatal exercise could reduce the risk of fetal macrosomia with no effect on other perinatal or postnatal complications. The study followed the systematic literature review approach where it included multiple medical search Databases using PICOS eligibility criteria up to January 2019. The review was based on the following keywords: pregnancy, gestational, or prenatal) and (physical exercise, exercise, or physical activity. There are only two studies that dealt with physical exercises among Saudi women. The results indicated a relation between prenatal physical exercise on improving or decreasing risks on the mother and child during pregnancy. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the accuracy and diagnostic value of genome-wide noninvasive prenatal testing (NIPT) for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies.Methods: We performed a retrospective cohort study including data from pregnant women with a twin or higher-order gestation who underwent genome-wide NIPT at one of the eight Belgian genetic centers between November 1, 2013, and March 1, 2020. Chorionicity and amnionicity were determined by ultrasonography. Follow-up invasive testing was carried out in the event of positive NIPT results. Sensitivity and specificity were calculated for the detection of trisomy 21, 18, and 13 in the dichorionic-diamniotic twin cohort.Results: Unique NIPT analyses were performed for 4,150 pregnant women with a multiple gestation and an additional 767 with vanishing gestations. The failure rate in multiple gestations excluding vanishing gestations ranged from 0% to 11.7% among the different genetic centers. Overall, the failure rate was 4.8%, which could be reduced to 1.2% after single resampling. There were no common fetal trisomies detected among the 86 monochorionic-monoamniotic and 25 triplet cases. Two monochorionic-diamniotic twins had an NIPT result indicative of a trisomy 21, which was confirmed in both fetuses. Among 2,716 dichorionic-diamniotic twin gestations, a sensitivity of 100% (95% CI 74.12-100%) and a specificity of 100% (95% CI 99.86-100%) was reached for trisomy 21 (n=12). For trisomy 18 (n=3), the respective values were 75% (95% CI 30.06-95.44%) sensitivity and 100% (95% CI 99.86-100%) specificity, and for trisomy 13 (n=2), 100% (95% CI 20.65-100%) sensitivity and 99.96% (95% CI 99.79-99.99%) specificity. In the vanishing gestation group, 28 NIPT results were positive for trisomy 21, 18, or 13, with only five confirmed trisomies.Conclusion: Genome-wide NIPT performed accurately for detection of aneuploidy in dichorionic-diamniotic twin gestations. [ABSTRACT FROM AUTHOR]

Background: Our aim was to provide a theoretical basis for clinicians to conduct genetic counseling and choose further prenatal diagnosis methods for pregnant women who failed non-invasive prenatal screening (NIPS). Methods: A retrospective analysis was performed on pregnant women who had failed NIPS tests. Results: Among the 123,291 samples, 394 pregnant women did not obtain valid results due to test failures. A total of 378 pregnant women were available for follow-up, while 16 patients were lost to follow-up. Of these 378, 135 pregnant women chose further prenatal diagnosis through amniocentesis, and one case of dysplasia was recalled for postpartum chromosome testing. The incidence rate of congenital chromosomal abnormalities in those who failed the NIPS was 3.97% (15/378), which was higher than that of the chromosomal abnormalities in the common population (1.8%). Among the pregnant women who received prenatal diagnosis, the positive rates of chromosomal abnormalities in the chromosomal microarray analysis/copy number variation sequencing (CMA/CNV-seq) group and in the karyotyping group were 15.28 and 4.76%, respectively. Conclusion: Prenatal diagnosis should be strongly recommended in posttest genetic counseling for pregnant women with NIPS failures. Further, high-resolution detection methods should be recommended for additional prenatal diagnoses. [ABSTRACT FROM AUTHOR]

Background: Nowadays several Prenatal Tests for Chromosomal Abnormalities Detection (PTCAD) are available. In those cases in which there is not an Institutional protocol to advise women about the available PTCAD, the choice of which one to undergo is up to the woman and largely depends on her knowledge about them. Therefore, we decided to evaluate, as a primary outcome, knowledge about PTCAD among pregnant women attending our Term Clinic. As a secondary outcome we evaluated the relationship between the patient's knowledge and the subsequently chosen PTCAD. Methods: From August 2017 to August 2018 an anonymous questionnaire with multiple-choice answers was administered to all pregnant women attending our Term antenatal Clinic, a tertiary obstetric unit in Catanzaro (Italy). Results: Three hundred and twenty-five pregnant women were enrolled in the study. We observed that 28.8% of the pregnant women that chose one of the PTCAD, avoided the first trimester combined screening test; among these, 11.4% were in favour of the cell-free foetal DNA test. The latter was erroneously considered diagnostic by 34.3% of the women that had chosen it. Conclusions: This study demonstrated that women's knowledge about PTCAD is poor and that there is a potentially dangerous confusion between the words 'screening' and 'diagnostic'. Informative campaigns about PTCAD and the application of dedicated antenatal counselling appointments should be a health-care priority to avoid unnecessary risks and costs for pregnant women and possible legal issues. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the yield and utility of the routine use of chromosomal microarray analysis (CMA) for prenatal genetic diagnosis in a large cohort of pregnancies with normal ultrasound (US) at the time of genetic testing, compared with pregnancies with abnormal US findings.Methods: We reviewed all prenatal CMA results in our center between November 2013 and December 2018. The prevalence of different CMA results in pregnancies with normal US at the time of genetic testing ('low-risk pregnancies'), was compared with that in pregnancies with abnormal US findings ('high-risk pregnancies'). Medical records were searched in order to evaluate subsequent US follow-up and the outcome of pregnancies with a clinically relevant copy-number variant (CNV), i.e. a pathogenic or likely pathogenic CNV or a susceptibility locus for disease with > 10% penetrance, related to early-onset disease in the low-risk group.Results: In a cohort of 6431 low-risk pregnancies that underwent CMA, the prevalence of a clinically significant CNV related to early-onset disease was 1.1% (72/6431), which was significantly lower than the prevalence in high-risk pregnancies (4.9% (65/1326)). Of the low-risk pregnancies, 0.4% (27/6431) had a pathogenic or likely pathogenic CNV, and another 0.7% (45/6431) had a susceptibility locus with more than 10% penetrance. Follow-up of the low-risk pregnancies with a clinically significant early-onset CNV revealed that 31.9% (23/72) were terminated, while outcome data were missing in 26.4% (19/72). In 16.7% (12/72) of low-risk pregnancies, an US abnormality was discovered later on in gestation, after genetic testing had been performed.Conclusion: Although the background risk of identifying a clinically significant early-onset abnormal CMA result in pregnancies with a low a-priori risk is lower than that observed in high-risk pregnancies, the risk is substantial and should be conveyed to all pregnant women. © 2020 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study is to determine the seroprevalence of toxoplasmosis during pregnancy in our hospital and thus contribute to screening and management strategies. Materials and Methods: In this retrospective cohort study, the records of 607 pregnant women were analyzed. Patients were tested for serum Toxoplasma gondii antibodies at their first antenatal visit. The seronegative cases were rescreened at 32 weeks’ gestation with immunoglobulin (Ig) M and IgG for seroconversion. Demographic, clinical, and serological characteristics of patients were evaluated. Results: During the study period, 461 (75.94%) patients were seronegative for toxoplasmosis. IgG seropositivity was detected in 110 (18.12%) patients, whereas 33 (5.43%) patients had both IgG and IgM seropositivity; low avidity was observed in 6 (0.98%) of these 33 patients. IgM seropositivity was detected in only 3 (0.49%) cases. Toxoplasma IgG and IgM tests were repeated for 93 seronegative patients at 32 weeks’ gestation but seroconversion was not observed in any patient. Acute Toxoplasma infection during pregnancy was found in 9 (1.48%) patients and amniocentesis was performed in four of these. No infant was diagnosed with congenital Toxoplasma infection. Conclusion: Congenital Toxoplasma infection is clearly a preventable and treatable disease that poses a serious public health risk. Educating people on the transmission routes and implementing routine prenatal testing both regionally and globally during gestation are key preventative measures. [ABSTRACT FROM AUTHOR]