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This paper looks at three televised examples of pregnant women grappling with prenatal testing. In these stories, prenatal testing for disability is increasingly being framed as a requirement of responsible motherhood, and termination of pregnancies with diagnoses of disability shown as the logical choice. Disability is frequently depicted to be an anxiety-inducing or disappointing outcome. Previous research has shown televised depictions of pregnancy to be influential; the narratives illustrated here reinforce the discourse that disability is a burden for potential parents and entrench the view that fetal value is defined by "health," which is constructed in binary opposition with disability. Ultimately, these media depictions can have far-reaching effects in terms of pregnant people's feelings about the need to use prenatal testing, their diagnoses, and their decisions regarding both testing and termination. [ABSTRACT FROM AUTHOR]

The discovery of cell-free fetal DNA (cffDNA) in maternal blood and the rapid development of massively parallel sequencing have revolutionized prenatal testing from invasive to noninvasive. Noninvasive prenatal screening (NIPS) based on cffDNA enables the detection of fetal trisomy through sequencing, comparison, and bioassays. Its accuracy is better than that of traditional screening methods, and it is the most advanced clinical application of high-throughput sequencing technologies. However, the existing sequencing methods are limited by high costs and complex sequencing procedures. These limitations restrict the availability of NIPS for pregnant women. Many amplification methods have been developed to overcome the limitations of sequencing methods. The rapid development of non-sequencing methods has not been accompanied by reviews to summarize them. In this review, we initially describe the detection principles for sequencing-based NIPS. We summarize the rapidly evolving amplification technologies, focusing on the need to reduce costs and simplify the procedures. To ensure that the testing systems are feasible and that the testing processes are reliable, we expand our vision to the clinic. We evaluate the clinical validity of NIPS in terms of sensitivity, specificity, and positive predictive value. Finally, we summarize the application guidelines and discuss the corresponding quality control methods for NIPS. In addition to cffDNA, extracellular vesicle DNA, RNA, protein/peptide, and fetal cells can also be detected as biomarkers of NIPS. With the development of prenatal testing, NIPS has become increasingly important. Notably, NIPS is a screening test instead of a diagnostic test. The testing methods and procedures used in the NIPS process require standardization. [ABSTRACT FROM AUTHOR]

Investigating expectant mothers' pregnancy in Taiwan, this paper examines prenatal ultrasound as an ongoing invention of its users in general and pregnant women in particular. Instead of being passive consumers, pregnant women actively invent and reconfigure prenatal ultrasound using flexible interpretation and strategic reinscription. There is an inevitably ambivalent technological experience of prenatal ultrasound across cultures. Whereas pregnant women are pleased and reassured to see their babies 'on the screen,' my analysis shows that, prenatal ultrasound as a passive diagnostic tool that cannot offer active treatment, and the fact that prenatal ultrasound helps to make up morality surrounding pregnancy, constitutes the main source of mothers-to-be's negative technological experiences of prenatal ultrasound. Whereas prenatal ultrasound has been regarded as an indispensable and authoritative method of keeping users informed, adopting a hybrid approach, pregnant women still actively refer to local knowledge to understand their pregnancy. [ABSTRACT FROM AUTHOR]

This study investigated the relationship between maternal gestational weight gain (GWG) and the risk of adverse pregnancy outcomes in gestational diabetes mellitus (GDM)-negative pregnant women. We did a retrospective cohort study between 1 July 2017, and 1 January 2020, at Women's Hospital, Zhejiang University School of Medicine. Firstly, pregnant women were divided into subgroups according to the entire GWG (inadequate GWG, adequate GWG, and excessive GWG) and GDM status (positive and negative) during pregnancy. Secondly, the whole population of pregnant women with GDM was used as a reference to evaluate the relationship between GWG and adverse pregnancy outcomes in GDM-negative pregnant women. Lastly, subgroup analysis was conducted based on pre-pregnancy body mass index (pp-BMI). A total of 30,910 pregnant women were analysed. Included pregnancy women were divided into three groups based on GWG: 7569 (24.49%) pregnancy women had inadequate GWG, 13088 (42.34%) had adequate GWG, and 10,253 (33.17%) had excessive GWG. In addition to preterm birth and small for gestational age (SGA), the incidence of macrosomia and large for gestational age (LGA) continues to increase from inadequate GWG to excessive GWG groups. Pregnant women without GDM who have excessive GWG are at higher risk of macrosomia and LGA than pregnant women with GDM. Moreover, this risk increased with increasing pp-BMI. Pregnant women without GDM with inadequate GWG were at risk of preterm birth regardless of pp-BMI. Only those with inadequate GWG and pp-BMI < 18.5 kg/m2 had an increased risk of SGA. In conclusion, inappropriate GWG is strongly associated with adverse pregnancy outcomes, even if they do not have GDM. Therefore, this population should receive attention and management before and during pregnancy. What is already known on this subject? Several studies have focused on the GDM population and the risk of adverse pregnancy outcomes, but few have focused on GDM-negative populations. This is because GDM-negative women are perceived to be "safe," leading to less focus on themselves, which can lead to subsequent excessive weight gain during pregnancy. Whether this factor increases the risk of adverse pregnancy outcomes in this population remains unknown. What do the results of this study add? Our study found an inverse relationship between GWG and GDM. Therefore, our study focuses on this group of GDM-negative pregnant women. Their excessive weight gain increases the risk of adverse pregnancy outcomes, even higher than GDM pregnant women. What are the implications of these findings for clinical practice and/or further research? GWG is associated with adverse pregnancy outcomes. Therefore, pregnant women without GDM also need increased attention and management of their weight before and during pregnancy. Prenatal care providers can utilise tools such as diet, exercise counselling, weight tracking, and setting weight gain goals to reduce inappropriate weight gain and mitigate its adverse effects on pregnancy outcomes. [ABSTRACT FROM AUTHOR]

This study aimed to evaluate the value of non-invasive prenatal testing (NIPT) in the prenatal screening of foetal aneuploidy-associated diseases at different gestational ages. Briefly, cell-free foetal DNAs were extracted from plasma first, followed by DNA sequencing and bioinformatics analyses for chromosome aneuploidy (T21, T18, and T13), sex chromosome aneuploidy (SCA), and microdeletion/microduplication. Subsequently, the positive results were subject to karyotype analyses. The pregnant women included in this study were divided into six groups, and the results, such as chromosome diagnoses, and clinical phenotypes, were collected for data analyses. According to the results of the data analysis, the positivity rates of foetal chromosomal abnormalities in pregnant women under 20, 20–24, 25–29, 30–34, 35–39, and >40 years old were 0%, 0.17%, 0.25%, 0.27%, 0.60%, and 1.66%, respectively. The positive predictive value (PPV) in the 20–24 years group was 41.67%, that in the 25–29 years group was 62.5%, that in the 30–34 years group was 66.67%, that in the 35–39 years group was 90.74%, and that in the >40 years group was 90.32%. Overall, NIPT detection in elderly pregnant women has excellent clinical application value in reducing the incidence of either birth defects or abortion caused by invasive chromosome examination. It is critical to diagnose foetal chromosome aneuploidy in time through prenatal screening to prevent birth defects. This study aimed to evaluate the value of non-invasive prenatal testing (NIPT) in prenatal screening of foetal aneuploidy-associated diseases at different gestational ages. A retrospective analysis based on NIPT screening data at a medical laboratory was performed. The results showed that the total positivity rate and total positive predictive value of trisomy 21, trisomy 18, and trisomy 13 in older pregnant women (≥35 years old) were significantly higher than those in younger pregnant women, and there was an increasing trend with increasing maternal ages. This study indicated that NIPT detection in elderly pregnant women has an excellent application value in clinical practice to reduce the incidence of birth defects and abortion caused by invasive chromosome examination. [ABSTRACT FROM AUTHOR]

To present a novel 91.5-kb deletion of the α-globin gene cluster (αα)FJ identified by genetic assay and prenatal diagnosis in a Chinese family. The proband was a 34-year-old G3P1 (Gravida 3, Para 1) female at the gestational age of 21+ weeks with a history of an edematous fetus. A routine genetic assay (reverse dot blot hybridization, RDB) was performed to detect common thalassemia mutations. Multiplex ligation-dependent probe amplification (MLPA) and single-molecule real-time technology (SMRT) were used to detect rare thalassemia mutations. The hematological phenotypes of the proband, her mother, elder sister, husband, daughter, and nephew were consistent with the phenotype of α-thalassemia trait. No mutations were found in these family members by RDB, except for the proband's husband who carried an α-globin gene deletion --SEA/αα. MLPA results showed that the proband and other α-thalassemia-suspected relatives had heterozygous deletions around the POLR3K-3-463nt, HS40-178nt, and HBA-HS40-382nt probes. The 5′-breakpoint was out of probe scope and could not be determined. SMRT was performed and a 91.5-kb deletion (NC_000016.10: g.39268_130758del) in the α-globin gene cluster (αα)FJ was identified in the proband and other suspected relatives, which could explain their phenotypes. At the proband's gestational age of 22+ weeks, an amniotic fluid sample was collected and analyzed. As only the 91.5-kb deletion (αα)FJ was identified in the fetus with RDB, MLPA, and SMRT. The proband was suggested to continue the pregnancy. We first reported a 91.5-kb deletion (NC_000016.10: g.hg38-chr16:39268-_130758del) of the HS-40 region in the α-globin gene cluster (αα)FJ identified in a Chinese family. Since the HS-40 loss of heterozygosity in combination with the heterozygous deletion --SEA might result in Hb Bart's hydrops fetalis, routine genetic assay, and SMRT were recommended to individuals at risk for prenatal diagnosis. [ABSTRACT FROM AUTHOR]

To explore the positive predictive value (PPV) in noninvasive prenatal testing (NIPT)-positive cases and analyze the effect of the Z-score intervals on PPV performance. In this retrospective study, 26,667 pregnant women underwent NIPT from November 2014 to August 2022, of which 169 were NIPT-positive cases. NIPT-positive cases were divided into three groups according to the Z-score: 3 ≤ Z < 6, 6 ≤ Z < 10, and Z ≥ 10. The PPVs of NIPT were 91.26% (94/103) for trisomy (T) 21, 80.65% (25/31) for T18, and 36.84% (7/19) for T13. The PPVs for the 3 ≤ Z < 6, 6 ≤ Z < 10, and Z ≥ 10 groups were 50%, 84.62%, and 87.95%, respectively. A higher PPV was found in the NIPT results when the Z-score was larger, with significant differences. The PPVs for T21/T18/T13 were 71.43%/42.86%/25% for 3 ≤ Z < 6, 90.32%/85.71%/57.14% for 6 ≤ Z < 10, and 93.85%/100%/25% for Z ≥ 10. For T21, T18, and T13, the correlations between the Z-score and fetal fraction concentration in true positives were r = 0.85, r = 0.59, and r = 0.71 (all p <.001), respectively. Z-score is associated with the PPV performance of NIPT in fetal T13, T18, and T21. The possibility of false positives caused by placental chimerism should be considered when determining whether high Z-values lead to high PPVs. [ABSTRACT FROM AUTHOR]

This study aimed to analyze prenatal diagnosis, perinatal outcomes, and postnatal follow-up in fetuses with ectopia cordis (EC). This retrospective analysis accessed 31 patients with EC who were either diagnosed or referred to a tertiary Fetal Medicine centers for EC diagnosis in Brazil, Germany, Italy, and Poland. We analyzed prenatal diagnosis, perinatal outcomes, and follow-up in these patients. Our study included a cohort of 31 fetuses with EC, 4 and 27 of whom had partial and complete protrusion of the heart through a ventral defect in the thoracoabdominal wall, respectively. EC was diagnosed by fetal echocardiography at a mean gestational age of 20.3 ± 8.6 weeks (range, 8–35 weeks). Of the four cases, in which the karyotype was performed, all of them had a normal result (1 – 46,XX and 3 – 46,XY). Five patients showed conotruncal abnormalities and six ventricular septal defects. Termination of pregnancy (TOP) was performed in 15 cases (48%) and seven pregnant women had spontaneous fetal demise (22.5%). Of the seven fetuses that were born alive, four of them died, and three infants underwent surgery. Among these three infants, all of them survived, one was 5 months, 13 years old and 29 years old at the time of study completion. Ectopia cordis is associated with high mortality rates and intracardiac/extra-cardiac defects. Ventricular septal defects and conotruncal anomalies were the more common intracardiac defects associated with EC. However, in this cohort of fetuses with EC the incidence of PC was lower than reported in the literature. [ABSTRACT FROM AUTHOR]

Congenital hemangiomas are rare benign vascular tumors but can lead to serious adverse pregnancy outcomes. Its prenatal diagnosis is a challenge. We explored the clinical applications of prenatal ultrasound for evaluating fetal cutaneous hemangioma and associated complications. A retrospective observational study was conducted comprising a population of pregnant women with fetal cutaneous hemangioma, the latter diagnosed by prenatal ultrasound, between January 2016 and December 2020. The clinical characteristics, sonographic images, complications, and pregnancy outcomes were documented and analyzed. We identified 20 cases of fetal cutaneous hemangioma diagnosed by prenatal ultrasound and confirmed by postpartum examinations. Most hemangiomas were in the head and neck (55%), with either solid isoechoicity (25%) or solid mildly hyperechoic (25%), and well-circumscribed (80%) mass. Eight (40%) fetuses experienced complications, which often occurred in fetuses with large hemangiomas (67% with maximum diameter ≥5 cm; 100% with a volume ≥40 cm3). The most common complications were cardiac-related (88%), including elevated cardiothoracic area ratio, atrioventricular valve regurgitation, and fetal hydrops. A large hemangioma was usually associated with advanced gestational age and a fast hemangioma growth rate. In five (25%) cases, the pregnancy was terminated; these involved hemangioma of the head or neck. One newborn developed Kasabach–Merritt phenomenon, pulmonary hemorrhage and respiratory distress, and died 3 days after birth. Among the 14 (70%) fetuses that survived birth, all hemangiomas disappeared or regressed after treatments with propranolol, interventional surgery, or observed routinely. Prenatal ultrasound examination can accurately diagnose fetal cutaneous hemangioma and related complications to facilitate appropriate management during the pregnancy. Prenatal diagnosis of cutaneous hemangiomas is a clinical challenge. Prenatal ultrasound examination could be a method to accurately diagnose and monitor these hemangiomas. [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]

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: 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]

Purpose: Prenatal anxiety has negative effects on pregnancy and neonate. Both screening tests and invasive diagnostic tests are associated with elevated anxiety level. But a normal fetal karyotype result could improve the anxiety level in high-risk patients. We hypothesized that patients who prefer follow-up without karyotyping may experience increased anxiety and sleep impairment until delivery. Our aim was to determine the effect of invasive diagnostic test decision on anxiety and sleep quality in women with a positive screening result.Methods: 132 women were included for the study and three groups were described. The invasive group consisted of women who underwent invasive procedure after a screen-positive test result, the follow-up group consisted of women who preferred non-invasive follow-up after a screen-positive result and the control group consisted of women with screen-negative test results. Participants were evaluated with the State-Trait Anxiety Inventory (STAI) and the Pittsburgh Sleep Quality Index (PSQI) after genetic counseling. They were asked for completing the same questionnaires in the third trimester to establish the course of anxiety and sleep quality throughout pregnancy.Results: STAI scores were significantly higher in both screen-positive groups than in the control group in the first evaluation (p < 0.001). STAI scores decreased in the invasive group and controls while PSQI scores did not significantly change during the course of the pregnancy. However, the anxiety level and sleep quality were worsened over time in the follow-up group.Conclusion: Screen-positive women who preferred to follow up had higher anxiety level and worse sleep quality in the later stages of pregnancy. We concluded that invasive prenatal diagnostic tests could improve anxiety and sleep quality in pregnant women with a screen-positive result for aneuploidy. [ABSTRACT FROM AUTHOR]

Noninvasive prenatal testing (NIPT) provides important benefits yet raises ethical concerns. We surveyed Canadian pregnant women and their partners to explore their views regarding pressure to test and terminate a pregnancy, as well as other societal impacts that may result from the routinization of NIPT. A questionnaire was offered (March 2015 to July 2016) to pregnant women and their partners at five healthcare facilities in four Canadian provinces. 882 pregnant women and 395 partners completed the survey. 64% of women anticipated feeling no pressure to take the test if it were offered routinely, and 39% were not concerned about routinization leading to increased pressure to terminate a pregnancy of a fetus with Down Syndrome. Regarding other social concerns possibly resulting from routinization, pregnant women were most concerned regarding a reduction in resources available for people with Down Syndrome and their families and least concerned regarding a decrease in the population of people with Down Syndrome. Our findings reflect the concerns expressed by pregnant women and their partners, both personal (pressure to test, pressure to terminate) and societal (e.g., regarding potential negative impact on people with disabilities and their families). Even if most women were not concerned about feeling pressured to test due to NIPT routinization, a large minority express concerns that should not be taken lightly. Moreover, a majority of respondents were concerned regarding pressure to terminate pregnancies due to NIPT routinization as well as regarding most societal impacts they were queried on, especially the possible future reduction in resources available for people with DS and their families. Canadian policy-makers should consider these potential negative ramifications of NIPT and ensure that appropriate social policies accompany its implementation. [ABSTRACT FROM AUTHOR]

Clinical performance of the Momguard non-invasive prenatal test (NIPT) was evaluated in a cohort of Korean pregnant women. The foetal trisomies 21, 18 and 13 (T21, T18 and T13) were screened by low-coverage massive parallel sequencing in the maternal blood. Among the 1011 confirmed samples, 32 cases (3.2%) had positive NIPT results. Of these positive cases, 20 cases of T21, all cases of T18 and two cases of T13 had concordant karyotype findings. Only one case out of the remaining 979 negative NIPT samples showed a false negative result. The overall sensitivity and specificity of Momguard to detect the three chromosomal aneuploidies were 96.8% and 99.8%, respectively. Momguard is a clinically useful tool for the detection of T21, T18 and T13 in singleton pregnancy. However, as other NIPT tests, it carries the risk of false positive and false negative results. Hence, the genetic counsellors should provide these limitations to the examinees.Impact StatementWhat is already known on this subject? The NIPT approach using massive parallel sequencing (MPS) showed high sensitivity and specificity in various clinical studies. These results are based on analysis systems using their own bioinformatics algorithms.What the results of this study add? When this NIPT technology was introduced in Korea, the first biological specimens collected in Korea were transported overseas for processing in overseas laboratories and analysed by other country's analysis methods. We needed our own NIPT algorithm and developed Momguard NIPT for the first time in Korea. This study attempted to evaluate this Momguard NIPT protocol prospectively in a large number of samples obtained from three Korean hospitals.What the implications are of these findings for clinical practice and/or further research? The overall sensitivity and specificity to identify T13, T18 and T21 were 96.8% and 99.8%, respectively. These accuracy values were comparable to that of other studies. From this study, we found that Momguard is a clinically useful tool for the detection of three chromosomal aneuploidies. However, as other NIPT tests, it carries the risk of false positive and false negative results. Hence, the genetic counsellors should provide these limitations to the examinees. [ABSTRACT FROM AUTHOR]

Objective: To examine the occurrence and outcomes of fetuses with wide subarachnoid space (WSS) without ventriculomegaly in pregnant women with fetal macrocephaly as a sole diagnosis.Study design: A retrospective study was performed, analyzing patients with fetal macrocephaly between the years 2008 and 2018. All these patients underwent MRI, in order to detect brain anomalies. In the absence of any other brain abnormality, they were evaluated for WSS and their offspring's database was followed for at least two years after birth.Results: Ten patients were found to be carrying fetuses with macrocephaly, nine of them were diagnosed with WSS without ventriculomegaly prior to delivery. Following at least two years of follow up, all patients did not present significant neurodevelopmental abnormalities, apart from one child that had a genetic mutation of 15q21.2-22.31 deletion with other anomalies that were not diagnosed prenatally.Conclusions: We present herein for the first time in the literature a cohort of patients with a prenatal diagnosis of WSS without ventriculomegaly in fetuses with macrocephaly. Our data show that, in the presence of normal anomaly scan and normal chromosomal study, there is a low chance for significant neurodevelopmental abnormalities in fetuses with WSS without ventriculomegaly. [ABSTRACT FROM AUTHOR]

Standardization of noninvasive prenatal diagnosis (PND) method that can identify common mutations in the population is of great value. The purpose of this study was to find the paternal HBB gene IVS-II-1 (G>A) (HBB: c.315+1G>A) mutation in maternal plasma cell-free DNA using the co-amplification at lower denaturation temperature-polymerase chain reaction (COLD-PCR) method. We designed simulated circulating free DNA (cfDNA) in maternal plasma to optimize the COLD-PCR assay. Peripheral blood samples were collected from normal and IVS-II-1 heterozygous individuals as well as five heterozygous pregnant women whose husbands were carriers of IVS-II-1. The cfDNA was extracted from the plasma and subjected to optimized COLD-PCR followed by Sanger sequencing. The optimized protocol was tested on simulated cfDNA samples with proportions of 8.0, 6.0, 4.0 and 2.0%, and the results showed that the COLD-PCR is informative on samples containing 8.0% mutant alleles and above. The patients were undergoing invasive PND procedures via chorionic villi sampling (CVS) as scheduled at the 12th week of gestation. Paternal IVS-II-1 was detected in cfDNA samples of three patients who were in complete concordance with the outcome of CVS. Despite the limitations of the COLD-PCR method in noninvasive PND, it can be considered as a cost-effective screening option. The use of this approach for screening at-risk patients can prevent unnecessary invasive procedures identifying common mutations in high-prevalence diseases. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to investigate the maternal serum concentrations of copper (Cu) and ceruloplasmin (CP) in patients with mild preeclampsia, severe preeclampsia, hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome, and to determine their association with the severity of the disease.Methods: This study was carried out at the largest tertiary care health center in the southeast region in Turkey and Department of Obstetrics and Gynecology, Dicle University Hospital. A total of 179 pregnant women, including 58 healthy pregnant women and 71 mild preeclampsia, 26 severe preeclampsia, and 24 HELLP syndrome cases classified according to the American College of Obstetricians and Gynecologists' 2013 guidelines were included in this prospective study. Blood samples were taken from all the pregnant women to evaluate the serum Cu and CP levels. The Cu level was determined via atomic absorption/emission spectroscopy, while the serum CP level was assessed with a nephelometric assay using an automatic image analyzer. Spearman's rank correlation tests were used to determine the correlations between the serum levels of the antioxidative markers and the preeclampsia severity.Results: The mean ± SD of the Cu was 81.2 ± 11.84 µg/dl in the mild preeclampsia cases and 160.2 ± 20.89 µg/dl in the severe preeclampsia cases (p < .001). The mean ± SD of the CP was 33.0 ± 4.81 mg/dl in the mild preeclampsia cases and 65.3 ± 9.17 mg/dl in the severe preeclampsia cases (p < .001). The Cu and CP levels were significantly higher in the patients with HELLP syndrome, which is an advanced and more severe form of severe preeclampsia, than in the mild and severe preeclampsia patients (p < .001 and p < .001, respectively). Therefore, the serum Cu and CP levels were correlated with the severity of preeclampsia (r = 859, p < .001 and r = 786, p < .001, respectively). In addition, there was a positive correlation between the serum Cu and CP levels and the systolic and diastolic blood pressure values and aspartate amino transferase levels (AST), and a negative correlation between the serum Cu and CP levels and the platelet count.Conclusion: This was the first study in which the ceruloplasmin and Cu levels were investigated in HELLP syndrome patients. When considering the results obtained in the present study, there were significant relationships between the Cu, CP levels which are the markers of oxidative stress and the preeclampsia severity. [ABSTRACT FROM AUTHOR]

Objective: To describe a new first-trimester sonographic landmark the maxillo-occipital line which may be useful for early screening of open spina bifida.Methods: Maxillo-occipital line was prospectively evaluated in 100 low-risk pregnancies at the time of first-trimester sonographic screening examination between 11 and 13 + 6 weeks' gestation. All the pregnant women subsequently had a normal second-trimester scan and normal outcomes. Midsagittal brain images of 14 fetuses with known diagnosis of open spina bifida were evaluated retrospectively to review the maxillo-occipital line.Results: None of the 100 fetuses evaluated prospectively with the maxillo-occipital line below the junction of the midbrain and brain stem were affected by open spina bifida. The aqueduct of Silvius to occiput distance measurement was not obtained in five cases. In all, 14 cases with a diagnosis of open spina bifida, the junction between the midbrain and brain stem, were below the maxilla-occipital line.Conclusion: Maxillo-occipital line is an easy addition to the evaluation of first-trimester screening of open spina bifida. Further studies are needed to determine the false-positive and false-negative rates of this technique. [ABSTRACT FROM AUTHOR]

Objective: To explore the clinical effect of noninvasive prenatal screening (NIPS) for the women at advanced maternal age (AMA) and discuss the relationship between women's age and NIPS effect.Methods: Fourteen thousand thirty-five women at AMA who accepted NIPS from two prenatal diagnosis centers were recruited for this study. NIPS were checked by Illumina Next CN 500. All the AMA women received prenatal genetic counseling, selected prenatal diagnosis and different clinical treatments according to the results of NIPS.Results: A total of 114 cases (0.81%) got the NIPS-positive results of T21/T18/T13. One hundred four cases of them accepted prenatal diagnosis and 87 cases were proved as true positive. The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were 100, 99.88, 92.55 and 100%, respectively. Seventy-four women (0.53%) showed NIPS-positive results of sex chromosomal aneuploidies (SCAs). After informed consent, 46 women (62.2%) accepted fetus karyotype analysis. Nineteen cases were identified as true positive results, while 27 cases were false positive results. The PPV for SCAs in AMA women was 41.3%. The PPV of T21/T18/T13 in AMA women over 40 was 100%, while it was 81.91% for the women whose age was 35 ∼ 40 years old. There was also rising trend in PPV of fetal sex chromosome with the increased age (62.50 versus 36.84%).Conclusions: NIPS is a good choice for AMA pregnant women. It can not only achieve satisfactory clinical effect, but also greatly reduce invasive prenatal diagnosis. We will get better effect of NIPS by further managing AMA women stratified by their age. [ABSTRACT FROM AUTHOR]

Objective: Noninvasive prenatal testing (NIPT) for fetal aneuploidies has been widely adopted in developed countries. Despite the sharp decrease in the cost of massively parallel sequencing, the technical know-how and skilled personnel are still one of the major limiting factors for applying this technology to NIPT in low-income settings. Here, we present the establishment and validation of our NIPT procedure called triSure for detection of fetal aneuploidies. Methods: We established the triSure algorithm based on the difference in proportion of fetal and maternal fragments from the target chromosome to all chromosomes. Our algorithm was validated using a published data set and an in-house data set obtained from high-risk pregnant women in Vietnam who have undergone amniotic testing. Several other aneuploidy calling methods were also applied to the same data set to benchmark triSure performance. Results: The triSure algorithm showed similar accuracy to size-based method when comparing them using published data set. Using our in-house data set from 130 consecutive samples, we showed that triSure correctly identified the most samples (overall sensitivity and specificity of 0.983 and 0.986, respectively) compared to other methods tested including count-based, sized-based, RAPIDR and NIPTeR. Conclusions: We have demonstrated that our triSure NIPT procedure can be applied to pregnant women in low-income settings such as Vietnam, providing low-risk screening option to reduce the need for invasive diagnostic tests. [ABSTRACT FROM AUTHOR]

Owing to the lack of perfect accuracy and sufficient sample size in previously performed studies on cell-free foetal DNA (cffDNA) for detection of foetal gender through maternal plasma, this study aimed to investigate the efficiency of using two Y-chromosome specific probes in foetal sex determination during first trimester of pregnancy. Five millilitres of whole blood was drawn from 192 pregnant women (10-12 weeks) and was subjected to isolate cffDNA following separation of plasma. TaqMan Real-time PCR was performed on isolated cffDNA using primer pairs and probes specific for SRY, ZFY and β-globin genes. Co-amplification of ZFY and SRY genes was detected in 103 samples confirmed after the birth. Sensitivity and specificity of the test were calculated to be 100%. Further study on larger sample size is required to confirm the reproducibility of the present test in early and non-invasive determination of foetal sex. IMPACT STATEMENT What is already known on this subject? Foetal gender analysis through maternal plasma has been investigated in some cell-free foetal DNA (cffDNA) analysis. However, the detection rate and method of cffDNA analysis were different among various studies. What do the results of this study add? This study introduced a modified simple probe based real time analysis with perfect detection rate. What are the implications of these findings for clinical practice and/or further research? The proposed method can be used as diagnostic test in all laboratories around the world using real-time PCR to non-invasively determine the foetal gender in the initial weeks of pregnancy following confirmation in larger sample size. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the psychological predictors in Chinese multiparous pregnant women of advanced maternal age (AMA) for choosing aneuploidy screening or diagnostic testing.Methods: A total of 84 pregnant women of AMA were consecutively enrolled from Renming Hospital, Wuhan University. All participants completed three questionnaires: Zung Self-Rating Anxiety Scale (SAS), Zung Self-Rating Depression Scale (SDS), and Pregnancy Stress Rating Scale (PSRS). Demographic information and the choice of noninvasive prenatal testing (NIPT) versus invasive prenatal diagnosis (PND) were also collected.Results: Thirty-seven chose to have invasive PND, and 47 chose NIPT. Choosing invasive PND, as opposed to NIPT, was associated with lower educational background (χ2 = -2.269, p = .023), higher SAS scores (47.62 ± 7.96 versus 44.21 ± 6.10, p = .029), and higher SDS scores (50.41 ± 9.80 versus 45.96 ± 11.05, p = .058). Logistic regression analysis further showed that the decisive predictors for invasive PND are SAS (OR =1.106, p = .008) scores, scores of factor 3 in PSRS and the stress from changes of shape and motility (OR =0.471, p = .038). Subgroup analysis showed that women with previous negative pregnancy experience had higher scores in factor 2-stress (guarantee of maternal-fetal safety: 1.96 ± 0.63 versus 2.49 ± 0.65, p = .004) and total PSRS scores (1.60 ± 0.4 versus 1.83 ± 0.31, p = .044) than those without. Additionally, unemployment post pregnancy was associated with marginally significant higher PSRS scores (p = .083).Conclusions: The decision for invasive PND might be swayed by anxiety and attenuated by pregnancy stress originating from worry about changes in fetal shape and motility (measured by SAS and factor 3 score of PSRS, respectively). [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this study was to evaluate the potential improvement of introducing an intrapartum test for the detection of Group B Streptococcus (GBS) during labor and to estimate its cost-effectiveness versus antepartum GBS screening culture. Materials and methods: Three hundred and thirteen women at beginning of labor, with unknown GBS status or with antepartum GBS screening culture were enrolled. A vaginal-rectal specimen was collected from each woman for GBS detection by real-time PCR. Results of intrapartum test and antepartum GBS screening culture were compared. Results: Antepartum culture results did not always reflect the intrapartum maternal GBS colonization status since in 15.1% of the cases it was not concordant with intrapartum test. However, selecting only women, who underwent antepartum culture and intrapartum test at the same time, the percentage of concordance was 96.6%. Based on intrapartum test results, 74.9% of the total number of intrapartum antibiotic prophylaxis (IAP) was administered uselessly, while 1.9% of women did not receive IAP although they were positive to intrapartum test. Intrapartum test resulted less cost-effective than antepartum culture but it became more cost-effective at a cost threshold of about 16.00 €. Conclusions: The clinical introduction of intrapartum test could be a valuable mean for identification of GBS colonization during labor, allowing an appropriate management of mothers and neonates with consequent benefit for their health and with limited costs for Healthcare System. [ABSTRACT FROM AUTHOR]

Thalassaemia is a common haematologic health condition in Southeast Asian countries (SEA) including Thailand. Reducing the birth of new thalassaemia cases is an effective method to control disease. The background level of knowledge and attitude of pregnant women on the disease influences their decision to perform antenatal screening. Unfortunately, the information about pregnant women's knowledge and attitude on antenatal thalassaemia screening in a developing country such as Thailand is lacking. We therefore conducted this cross-sectional study to examine patients' knowledge and to evaluate the factors which influence the patient's knowledge and attitude on antenatal thalassaemia screening. 1006 pregnant women who attended antenatal care at the Maha Chakri Sirindhorn Medical Center, Faculty of Medicine, Srinakharinwirot University, Ongkharak, Nakhon Nayok, Thailand were enrolled. We found that women's knowledge on antenatal thalassaemia screening is low. A maternal age of ≥35 years was associated with a higher level of knowledge. A higher level of education and multigravidity, a family history of thalassaemia and a positive level of attitude were found more likely to have higher scores for knowledge. A higher level of education and level of knowledge score were also more likely to have a positive attitude score, but multigravidity negatively affected the attitude score. Effective counselling should be monitored among women with a lower levels of education, those with no family history of thalassaemia, and in primigravidas. Lastly, a concurrent Down syndrome screening or foetal sex determination may be useful incentives to encourage the decision to undergo screening. Impact statement What is already known about this subject? Screening for the paternal and maternal thalassaemia carrier status is important for reducing the incidence of severely thalassaemia-affected children. Poorer education and receiving genetic counselling for the first time were the predictive factors for the low post-counselling knowledge in genetic counselling before second trimester genetic amniocentesis. What do the results of this study add? Pregnant women's knowledge of antenatal thalassaemia screening was low. We found that pregnant women aged ≥35 years had a higher level of knowledge. Women with a higher level of education, multigravidity, the presence of a family history of thalassaemia and a positive attitude were more likely to have higher scores for knowledge. A higher level of education and level of knowledge score were also more likely to have a positive attitude score but multigravidity negatively affected the attitude score. The encouraging factors, such as an adjunctive Down syndrome screening or foetal structural screening or foetal sex determination may be useful as the incentive tools. What are the implications of these finding for clinical practice and/or further research? The awareness of a possible incorrect understanding is important for the antenatal counselling in the developing countries. Intensive monitoring of effective counselling using a post-counselling test should be scheduled. The methods of effective counselling for antenatal thalassaemia in developing countries should be evaluated. [ABSTRACT FROM AUTHOR]

This is a retrospective analysis of the patient demographics and cytogenetic results of patients who underwent prenatal invasive testing for genetic analysis at the Foetal Medicine Division of the Department of Obstetrics and Gynecology, Sri Ramachandra Medical College and Research Institute. The main objective of this study was to characterise the changing trends in indications of pregnant women for foetal karyotyping in a 7-year period. A total of 257 procedures were performed in this period, and there was a significant change in the trend of indications for invasive prenatal diagnosis from an advanced maternal age in 2009 to a positive screen test by 2014. Chromosome abnormalities were observed in 9.8% of the cases, with trisomy 21 being the most frequent finding. The findings demonstrate the changing trends in screening and diagnostic testing in the tertiary care centre, with an acceptance of the first and second trimester maternal serum screening tests as a determinant for high-risk pregnancies. Impact statement What is already known on this subject? Despite the fact that India has one of the world's highest birth rates, there is still no public health care policy for the application of cytogenetic prenatal diagnosis. Nevertheless, we have been offering this test in our university teaching hospital since 2008, allowing us to characterise the changing trends in indications of pregnant women who sought invasive diagnostic procedures for foetal genetic studies. What do the results of this study add? The results of our study show that there were major changes in the common indications for prenatal diagnosis during the study period. In 2009, the main indication was an advanced maternal age, referred to in 31% of the cases, which declined steadily to 5% by 2014. In 2014, 51% of cases opted for a prenatal diagnosis because of a first trimester screen positive result, increasing from 12% in 2009. What are the implications of these findings for clinical practice and/or further research? This data is relevant as it would encourage other tertiary hospitals in developing countries like India to consider extending first trimester screening for all women, regardless of age and educate them on the options of prenatal genetic diagnosis for reassurance. [ABSTRACT FROM AUTHOR]

Objective: We examined whether first trimester aneuploidy and pre-eclampsia screening markers predict gestational diabetes mellitus (GDM) in a large multi-ethnic cohort and the influence of local population characteristics on markers.Methods: Clinical and first trimester markers (mean arterial pressure (MAP), uterine artery pulsatility index (UtA PI), pregnancy associated plasma protein A (PAPP-A), free-β human chorionic gonadotropin (free-hCGβ)) were measured in a case-control study of 980 women (248 with GDM, 732 controls) at 11 to 13 + 6 weeks' gestation. Clinical parameters, MAP-, UtA PI-, PAPP-A-, and free-hCGβ-multiples-of-the-median (MoM) were compared between GDM and controls; stratified by ethnicity, parity, and GDM diagnosis <24 versus ≥24 weeks' gestation. GDM model screening performance was evaluated using AUROC.Results: PAPP-A- and UtA PI-MoM were significantly lower in GDM versus controls (median ((IQR) PAPP-A-MoM 0.81 (0.58-1.20) versus 1.00 (0.70-1.46); UtA PI-MoM 1.01 (0.82-1.21) versus 1.05 (0.84-1.29); p < .05). Previous GDM, family history of diabetes, south/east Asian ethnicity, parity, BMI, MAP, UtA PI, and PAPP-A were significant predictors in multivariate analysis (p < .05). The AUC for a model based on clinical parameters was 0.88 (95%CI 0.85-0.92), increasing to 0.90 (95%CI 0.87-0.92) with first trimester markers combined. The combined model best predicted GDM <24 weeks' gestation (AUC 0.96 (95%CI 0.94-0.98)).Conclusions: Addition of aneuploidy and pre-eclampsia markers is cost-effective and enhances early GDM detection, accurately identifying early GDM, a high-risk cohort requiring early detection, and intervention. Ethnicity and parity modified marker association with GDM, suggesting differences in pathophysiology and vascular risk. [ABSTRACT FROM AUTHOR]

Introduction: Prenatal diagnosis of Down syndrome (DS) is based on the calculated risk of maternal age, biochemical and ultrasonographic markers and recently by cfDNA. Differences in proteomic profiles may give an opportunity to find new biomarkers.Objective: Characterize proteome of serum of mothers carrying DS fetus.Material and Methods: Blood serum samples of three groups of women were obtained, (a) 10 non-pregnant, (b) 10 pregnant with healthy fetus by ultrasound evaluation, (c) nine pregnant with DS fetus. Sample preparation was as follows: Albumin/IgG depletion, desalting, and trypsin digestion; the process was performed in nanoUPLC MS/MS. Data analysis was made with Mass Lynx 4.1 and ProteinLynx Global Server 3.0, peptide and protein recognition by MASCOT algorithm and UNIPROT-Swissprot database.Results: Each group showed different protein profiles. Some proteins were shared between groups. Only sera from pregnant women showed proteins related to immune and clot pathways. Mothers with DS fetus had 42 specific proteins.Conclusions: We found a different serum protein profile in mothers carrying DS fetuses that do not reflect expression of genes in the extra chromosome. Further studies will be necessary to establish the role of these proteins in aneuploid fetus and analyze their possible use as potential biomarkers. [ABSTRACT FROM AUTHOR]

Objective: To assess fetal abnormalities leading to very late termination of pregnancy (VLTOP) performed after 32 weeks' gestation.Method: The study population included all pregnant women with singleton pregnancy that underwent VLTOP in our institute because of fetal indications between the years 1998 and 2015.Results: Fifty-seven cases (2.0%) were at ≥32 weeks' gestation and are the subjects of the current study. Our VLTOP cases were subdivided into four categories according to the sequence of events that led to the decision for VLTOP: (1) No routine prenatal screening with an incidental fetal finding discovered after 32 weeks' gestation (9 fetuses ∼16%); (2) Routine early prenatal care raised suspicion of abnormalities, and the final diagnosis was established by additional tests (8 fetuses, ∼14%); (3) Developmental findings detected during the third trimester (21 fetuses; ∼37%), and (4) fetal abnormalities that could have been detected earlier during pregnancy (19 fetuses; ∼33%).Conclusions: The two categories in which the pregnant women did not underwent any fetal evaluation (i.e. group 1) or those that could have been detected earlier (i.e. group 4) consists ∼49% from our cohort in which VLTOP could have been avoided. [ABSTRACT FROM AUTHOR]

Objective: To investigate women's decision to undergo non-invasive and/or invasive tests for prenatal diagnosis depending on the procedure-related risk and the risk of carrying a foetus with Down syndrome (DS). Both risks are rated in terms of numerical relevance and acceptability.Method: A sample of 448 consecutive women with low-risk pregnancies were interviewed to collect social and clinical variables and to determine their perceptions of the risks of invasive procedure-related miscarriage and carrying a foetus with DS. The risks were scored numerically in terms of their relevance and acceptability using a 10-point rating scale.Results: The factors related to the use of non-invasive tests were age ≥35 years, not being treated at a public service, rating the risk of carrying a foetus with DS as having high numerical relevance and low acceptability, and rating the risk of miscarriage as having high acceptability. These relationships were still present when the use of invasive tests was considered, except in terms of the numerical relevance of the risk of carrying a foetus with DS.Conclusion: Perceived acceptability affects the interpretation of a given risk more than the numerical relevance of the risk. [ABSTRACT FROM AUTHOR]

Objective: Increasing maternal weight has been shown to predict adverse perinatal outcome, including increases in the relative risk of fetal death, stillbirth, neonatal death, perinatal death and infant death. In order to better understand the pathophysiological factors associated with obesity during pregnancy, the role of biomarkers associated with adverse outcomes in obese pregnant women is under investigation. The purpose of this review study was to examine potential biomarkers that could serve as effective screening strategies in obese pregnant women to reduce fetal and neonatal morbidity, as well as maternal morbidity.Methods: Electronic databases (Pubmed, Embase) were searched for previously published research studies that investigated biomarkers associated with perinatal outcomes in obese pregnant women and the putative mechanisms underlying biomarker effects on pregnancy outcomes.Results: It is evident that while several biomarkers predict perinatal complications in obese pregnant women, none fulfilled the criteria to be considered clinically useful.Conclusion: There is a critical need for reliable blood-based biomarkers associated with an increased risk of adverse perinatal outcomes in obese pregnant women. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study was to assess longitudinal changes of bioimpedance analysis compared with anthropometric measurements in low-risk pregnant woman recruited in the first trimester and to observe possible differences in these indices in women who developed high-risk pregnancies.Materials and Methods: Bioimpedance indices for the three trimesters of pregnancies were calculated separately for uneventful pregnancies delivered of newborns > the 10th centile. These findings were compared with anthropometric measurements. Data of women who developed hypertensive disorders of pregnancy (HDP) or delivered SGA newborns were calculated and compared.Results: Significantly longitudinal increases were observed in these pregnancies for total body water (TBW), free fat mass, fat mass, and extra-cellular water. These increases were paralleled body mass index (BMI), skinfolds, and waist measurements. The correlations between these two sets of findings were poor. Women who developed HDP with AGA fetuses showed significantly different bioimpedance from normal cases. TBW indices were highly significantly different since the first trimester. In pregnancies delivered of SGA newborns, these indices were opposite of the values observed in patients with HDP-AGA, TBW in these patients was significantly reduced compared with normal pregnancies.Conclusions: The bioelectrical impedance is a fast, simple, noninvasive way to assess the TBW content in pregnancy. Our findings are in agreement with the hypothesis that bioimpedance might help to identify early in gestation patients at risk of developing different clinical phenotypes of hypertensive disease of pregnancy and SGA fetuses. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the knowledge and opinions of US obstetric providers who use noninvasive prenatal testing (NIPT) to understand current utilization and guide future best practices.Methods: A questionnaire was designed to assess the level of knowledge and attitudes of OBGYNs toward screening options for aneuploidy, with a focus on NIPT. Initial questions evaluated obstetrician demographics, practice type, and NIPT familiarity. Subsequent questions were designed to solicit current practices regarding aneuploidy screening as well as opinions, experiences, and implications of NIPT.Results: Survey respondents identified NIPT as clinically superior to traditional screening methods and indicated that they would like ACOG to formally recommend NIPT for any pregnant woman. Insurance coverage, and therefore cost, was noted as the biggest barrier, and over 81% of surveyed providers would utilize NIPT as a first-line screening test if patients' insurance offered full coverage. The majority of providers who have implemented NIPT into clinical practice indicated improved patient care. While most providers demonstrated accurate understanding of the technology and its application, nearly 15% misunderstood NIPT as being a diagnostic test for fetal aneuploidy.Conclusion: The results of the survey suggest that there is a desire for changes to current practice guidelines and insurance coverage. Additionally, provider education remains paramount. [ABSTRACT FROM AUTHOR]

Foetal fibronectin testing (fFN) has a high negative predictive value for preterm delivery, but it has a cost implication. This two-stage prospective study evaluated the real patient costs and clinical impact of introducing the fFN test in women presenting acutely with threatened preterm labour in a tertiary UK obstetric hospital. Introduction of the fFN test for women with threatened preterm labour reduced antenatal admissions and in utero transfers, and reduced steroid treatment and tocolysis, even at 1 year after implementation. The total number of bed days for women with threatened preterm labour who did not deliver during admission fell from 132 (mean 8.8 days) to 25 days (mean 3.6 days). The mean cost of admission per woman before introduction of the fFN test was £1032 (95% CI £880 to £1184); after it was £339 (95% CI £261 to £417). In this small single centre study, the introduction of the test produced a cost saving of £693 per woman (95% CI, £464 to £922) which over 12 months potentially saves £74844 (95% CI £50,112 to £99,576). Further studies are needed to formally evaluate the cost-effectiveness of the fFN test and its impact on clinical decision-making in large populations. [ABSTRACT FROM AUTHOR]

Supporting pregnant women to make informed choices about Down syndrome screening is widely endorsed. We reviewed the literature on: (a) the association between socioeconomic position and informed choices and decision-making about Down syndrome screening, and (b) the possible mediating variables (e.g., health literacy, numeracy skills, behavioral and communication variables) that might explain the relationship. EMBASE, MEDLINE, PubMed, CINAHL, and PsycINFO were searched from January 1999 to September 2014. The methodological quality of studies was determined by predefined criteria regarding the research aims, study design, study population and setting, measurement tools, and statistical analysis. A total of 33 studies met the inclusion criteria. Women from lower socioeconomic groups experience greater difficulties making informed choices about Down syndrome screening compared to women from higher socioeconomic groups. Most studies focus on individual dimensions of informed decision-making rather than assessing elements in conjunction with one another. Few studies have explored why there are socioeconomic differences in women’s ability to make informed screening decisions. Future work is needed to identify mediating variables in this pathway. Systematic evidence-based intervention development to improve communication, understanding, and decision-making about Down syndrome screening is needed to ensure that women have an equal opportunity to make an informed choice about screening regardless of their socioeconomic position. [ABSTRACT FROM PUBLISHER]

Background: The value of obstetric ultrasound in high-income countries has been extensively explored but evidence is still lacking regarding the role of obstetric ultrasound in low-income countries. Objective: We aimed to explore experiences and views among physicians working in obstetric care in Tanzania, on the role of obstetric ultrasound in relation to clinical management. Design: A qualitative study design was applied. Data were collected in 2015, through 16 individual interviews with physicians practicing in obstetric care at hospitals in an urban setting in Tanzania. Data were analyzed using qualitative content analysis. Results: Use of obstetric ultrasound in the management of complicated pregnancy was much appreciated by participating physicians, although they expressed considerable concern about the lack of ultrasound equipment and staff able to conduct the examinations. These limitations were recognized as restricting physicians' ability to manage complications adequately during pregnancy and birth. Better availability of ultrasound was requested to improve obstetric management. Concerns were also raised regarding pregnant women's lack of knowledge and understanding of medical issues which could make counseling in relation to obstetric ultrasound difficult. Although the physicians perceived a positive attitude toward ultrasound among most pregnant women, occasionally they came across women who feared that ultrasound might harm the fetus. Conclusions: There seems to be a need to provide more physicians in antenatal care in Tanzania with ultrasound training to enable them to conduct obstetric ultrasound examinations and interpret the results themselves. Physicians also need to acquire adequate counseling skills as counseling can be especially challenging in this setting where many expectant parents have low levels of education. Providers of obstetric care and policy makers in Tanzania will need to take measures to ensure appropriate use of the scarce resources in the Tanzanian health care system and prevent the potential risk of overuse of ultrasound in pregnancy. [ABSTRACT FROM AUTHOR]

Objective: To compare the policy of prenatal diagnosis versus first trimester screening of trisomy 21 among pregnant women of advanced age. Methods: A retrospective study was conducted on patients aged ≥35 divided in two groups: patients who requested first trimester combined test and only in case of screen-positive result underwent invasive testing (group A); patients undergoing chorionic villous sampling or amniocentesis as first investigation (group B). The following outcome variables were compared: antenatal detection of trisomy 21, occurrence of trisomy 21 at birth, miscarriage rate, hospitals' costs. Results: 4527 women were included. Of these, 534 (11.80%) underwent T21 screening whereas 3993 (88.20%) requested primary invasive testing. In group A, 64 combined test were positive (11.99%) and 8 trisomy 21 cases were diagnosed (1.50%); the loss of euploid fetuses after invasive procedure was 4.55% (2/44). No false-negative case was observed. In group B 57 cases of trisomy 21 were diagnosed (1.43%), and pregnancy loss rate of chromosomally normal fetuses was 0.45% (17/3806). The estimated cost was, respectively, 67.720€ for the primary screening versus 1.996.500€ for direct prenatal diagnosis. Conclusion: First trimester screening of trisomy 21 is highly accurate and cost saving among women ≥35. [ABSTRACT FROM AUTHOR]

Background:Noninvasive prenatal screening (NIPS) is the latest in prenatal testing technologies for Down syndrome and other aneuploidies. It joins existing traditional screening and invasive testing. The administration and funding of prenatal testing for aneuploidy has been the subject of several studies evaluating whether women are making informed choices and whether prenatal testing is cost-effective.Methods:A review of professional medical guidelines, studies on informed consent and cost-effectiveness, and how NIPS is currently being administered and covered by private and public insurance was conducted.Results:Since the major medical organizations have recognized NIPS, particularly for women considered high risk, NIPS is being offered to expectant mothers. Increasingly, public and private insurance are covering NIPS based on the medical guidelines, with cost-effectiveness studies justifying its coverage. The same guidelines recommend pre-test counseling and post-test counseling along with providing patient educational materials with each prenatal test result. Consistent with past practice with traditional screening and invasive testing, these patient educational resources are not being provided or covered at the same rate as the testing itself.Conclusions:The administration of prenatal testing continues to only provide one part of the information recommended by medical guidelines: the testing itself. Patients are not receiving the recommended pre- and post-test counseling and educational materials, nor are these being covered to the same extent as the cost of the NIPS test itself. Unless all of the information recommended by the medical guidelines is both provided and covered to the same extent as the testing itself, offering and covering the costs of NIPS is unjustified. [ABSTRACT FROM PUBLISHER]

Objectives: To analyze trends in screening and invasive prenatal diagnosis over a 13-year period in relation to changes in the national prenatal screening policy. Methods: Fetal karyotypes obtained following 11 045 prenatal invasive procedures between January 1999 and December 2011 were retrospectively reviewed. Referral indications were classified as medical and non-medical (anxiety). The number of tests per relevant chromosomal abnormalities (CA) detected in both groups adjusted for indication was calculated. Results: A total of 414 CA were detected (3.8%), 355 of which were considered clinically significant. The percentage of invasive procedures has declined from 49% to 12%, although cases referred by anxiety have increased from 22% to 55%. A total of 3129 invasive procedures did not have any medical indication (28%) and 13 relevant CA (0.42%) were found in this group. In this low-risk series, the index "number of invasive testing needed to detect 1 relevant CA" adjusted for indication was 241. Conclusions: Changes in our national prenatal policy through this 13-year period show an increasing efficiency of prenatal detection of CA. However, despite the intensifying screening policies, low-risk pregnant women show a growing demand for prenatal invasive testing and a baseline risk for cytogenetic abnormality of 1/241. [ABSTRACT FROM AUTHOR]

Objective: Uptake rates for Down syndrome screening (DSS) in the Netherlands are low compared with those in Northern European countries (27% versus 61% in the United Kingdom and 90% in Denmark). These differences are unexpected, especially since the countries have similar cultural and social values. Method: To analyse factors that underlie differences in uptake we reviewed current literature on individual characteristics and healthcare system factors, which determine potential influential factors on utilization of DSS. Results: Arguments 'Against abortion' and 'Down syndrome (DS) not severe enough condition to terminate pregnancy' correlated with declining DSS, whereas 'Perceived guidance of healthcare professional,' 'Perceived negative attitude of society towards DS' and 'Preparation/Early termination' correlated with accepting DSS. However, the majority of determinants were used both in favour of accepting or declining DSS. Conclusions: Decision making regarding DSS seems a process with influences on different levels and subtle interactions rather than a dichotomous process. Utilization may also be influenced by the implicit way it is being offered, as an extra option or as part of routine care and how this offer is perceived by the social environment. Finally, national healthcare system characteristics, although underrepresented in the examined studies, may also influence participation in DSS. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to investigate the association between anti-angiogenic factor soluble c-Met (sMet) concentrations in maternal plasma and the risk of preeclampsia. Methods: The pregnant women included in this study (1) had subsequent preeclampsia ( n = 52) and were compared to normal controls ( n = 104) at the time of amniocentesis (15-20 weeks); and (2) had preeclampsia ( n = 63) and were compared to normal controls ( n = 112) at the time of diagnosis of preeclampsia (29-40 weeks). sMet concentrations were measured by ELISA. Non-parametric statistics were used for analysis. Results: Maternal plasma sMet concentrations were significantly higher in both women with subsequent preeclampsia (median: 1372.7 ng/ml versus 1100.5 ng/ml; p = 0.036) and women with preeclampsia (median: 1651.9 ng/ml versus 1364.7 ng/ml; p < 0.001) than in the controls. After adjusting for potential confounding factors, the risks of developing preeclampsia were as follows: adjusted odds ratio 2.5 (95% confidence interval, 1.2-5.2; p = 0.016) for second trimester sMet concentration with a cut-off value of 1223.5 ng/ml and 4.4 (95% confidence interval, 2.2-9.1; p < 0.001) for third trimester sMet concentration with a cut-off value of 1460.3 ng/ml. Conclusion: Elevated maternal plasma sMet concentrations were independently associated with the increased risk of preeclampsia. [ABSTRACT FROM AUTHOR]

Prenatal screening provides a good illustration of the tensions existing between the intention of control associated with standard risk surveillance and the permanence of uncertainty around life processes. During the screening process, health professionals and pregnant women are not only confronted with the limitations of probabilistic thinking, they are also concretely reminded of the extent of uncertain outcomes. We analysed such tensions, emblematic of the notion of manufactured uncertainty, with qualitative data collected in Switzerland from both gynaecologists and mothers-to-be. Doctors experienced difficulties in regard to expectations raised by risk surveillance, the duty to inform and the anxiety surveillance induced. Pregnant women coped in different ways with probabilistic thinking, developing contrasting responses to uncertainty, ranging from scepticism about risk thinking to aspiration for control, leading to over-use of medical procedures. As uncertainty was central to professional as well as lay thinking, both made use of subjective interpretations and cultural meanings in decisions related to future events. [ABSTRACT FROM PUBLISHER]

Objective: The aim of this study is to emphasize on the diagnostic effectiveness of fetal MRI that led to increased utilization in fetal medicine as well as its value in prognosis and decision making in the modern obstetric practice. Methods: One hundred five (n = 105) pregnant women were referred for a fetal MRI examination after a high detailed ultrasound examination revealed a fetal abnormality. Fetal MRI was performed using 1, 5 Tesla units, with T1, T2-weighted and diffusion-weighted images. The findings were analyzed in comparison to the previous ultrasound findings, according to the fetal organ affected and the value of the MRI for therapeutic decision making was addressed. A statistical analysis was performed. Results: The fetal MRI provides a more accurate diagnosis compared to ultrasound examination, and when the ultrasound detects fetal anomalies, the MRI can efficiently either confirm or reject the finding, proving its high value for prenatal diagnosis and perinatal and management. The sensitivity, specificity and positive predictive value of fetal MRI as a screening tool approaches 100%. Conclusions: Despite the fact that ultrasound is the method of choice for fetal screening, MRI can add up significantly to the diagnosis and management of congenital abnormalities and the indications for MRI continue to increase as new sequences and shorter acquisition times evolve. [ABSTRACT FROM AUTHOR]

Background. Recent events in our hospital, combined with international recommendations, catalyzed the need to move from mercury sphygmomanometry to automated blood pressure (BP) recording in pregnancy. Aim. To test the accuracy of the Omron T9P automated BP recorder in pregnant women, using mercury sphygmomanometry as the gold standard. Setting. Antenatal clinics and obstetric day assessment unit, St George Hospital, Sydney. Participants. Eighty-five pregnant women, 11%% of whom were receiving antihypertensives. Methods. Differences in both systolic and diastolic BP between the T9P Omron device and mercury sphygmomanometer were obtained for each woman, using sequential automated and mercury BP recordings, as required by a modified British Hypertension Society (BHS) protocol. The accuracy of the device was graded according to the BHS and the Association for the Advancement of Medical Instrumentation (AAMI) standards. Results. The Omron T9P device received an A//A grade according to this modified BHS and AAMI testing process, though the range of the 255 differences was 1--13 for systolic BP and 1--10 for diastolic BP. Conclusions. The Omron T9P device is an accurate device for use predominantly in an outpatient antenatal clinical setting. Further studies are required solely within hypertensive pregnant women before its use can be recommended with certainty in this group. [ABSTRACT FROM AUTHOR]

The objective of this study is to document the anaesthetic preference of pregnant women in two tertiary institutions in North-eastern Nigeria. This was a cross-sectional study of pregnant women seen at the antenatal clinics of the university of Maiduguri teaching hospital and Federal Medical Centre, Yola, from August to October 2009. A total of 254 women were interviewed. They were aged 18-43 with a mean of 28.56 ± 5.602 years. The parity ranged from 1-9 with a mean of 2.71 ± 1.956. Most (178, 70.1%) respondents preferred general anaesthesia and the commonest reason for the preference was various forms of fear 128 (71.9 %). The commonest reason for preference for regional anaesthesia was to watch the procedure live 50 (65.8%). Age (χ2 = 52.364, p = 0.000), education (χ2 = 8.780, p = 0.032), occupation (χ2 = 18.555, p = 0.002) and religion (χ2 = 4.936, p = 0.026) were significantly associated with preference for general anaesthesia. Only age ( p = 0.000, OR 8.17, CI = 0.000-1.00) retained significance after multivariate analysis. Considering the fact that the global trend is towards regional anaesthesia due to lower morbidity and mortality, the high preference for general anaesthesia in our survey is worrisome. Health education during antenatal clinics should highlight the superiority of regional over general anaesthesia for caesarean delivery. [ABSTRACT FROM AUTHOR]

Objective. Before April 2006, women with singleton pregnancy and advanced maternal age (AMA, 35 years and older) were offered either direct invasive tests or a variety of screening tests for Down syndrome (DS) with routine anomaly scan at 18–20 weeks. After April 2006, to reduce procedure-related fetal loss, invasive test was performed only for positive screening result or the presence of major fetal anomaly on ultrasound. We reviewed our 2-year experience after the policy change. Methods. Two-year data after policy change were compared to the 1-year historic control before policy change. Results. A total of 2257 eligible women were counselled in the 2 years after policy change. The uptake of screening was 96.7%. The overall detection rate for DS was 90% (18/20) at a false positive rate of 10.9%. The number of invasive tests performed to diagnose one case of DS was reduced 7-fold from 97 to 13. Conclusions. The number of direct invasive tests was markedly reduced. With effective DS screening policy, it is possible to do away with direct invasive testing for the majority of women with AMA. [ABSTRACT FROM AUTHOR]

Objectives. We designed this study to estimate the proportion of fetuses in pregnancies with positive second trimester serum screens for trisomy 18 who actually have trisomy 18, to estimate the proportion of women with trisomy 18 who have a negative serum screen, and to assess the role of ultrasound in the diagnosis of trisomy 18. Methods. Retrospective study of two cohorts of pregnant women in 2004 and 2005: (1) those with a second trimester serum screen positive for trisomy 18 and (2) those with fetuses having trisomy 18. Results. There were 93 women with positive serum screens for trisomy 18. Of these, only three had a fetus with trisomy 18. There were five other cases of trisomy 18, three of which had a negative second trimester serum screen for trisomy 18. All fetuses with trisomy 18 had multiple major structural abnormalities detected on targeted genetic sonography. Conclusions. A positive second trimester serum screen has a poor sensitivity and poor prediction for trisomy 18. Trisomy 18 is highly unlikely if a woman with a positive screen for trisomy 18 has no fetal abnormalities detected on targeted genetic sonography. Women with a positive second trimester serum screen for trisomy 18 should be offered genetic sonography, and the practice of routine amniocentesis for all women with a positive screen should be discouraged when targeted genetic sonography is available. [ABSTRACT FROM AUTHOR]

Objective. To describe the case of a pregnant woman and her fetus with Noonan syndrome (NS) whom were diagnosed through ultrasonography 3D and molecular analysis of the PTPN11 gene. Study design. Case report. Results. We detected in a pregnant woman and her child the G

Informed consent has historically been a cornerstone to ensuring autonomy during HIV testing. However, recent changes to global guidance on HIV testing have led to substantial debate on what policy provisions are necessary to ensure that consent remains meaningful in the context of testing. Despite disproportionate rates of testing during pregnancy, pregnant women's perspectives on the HIV testing process are underrepresented in the testing discourse. This study explores women's experiences with HIV testing and the consent process in a public antenatal clinic in South Africa. Qualitative interviews with 25 women were conducted at the clinic at either an antenatal visit or an infant immunization visit that followed HIV testing. Interviews were transcribed, translated, and coded for analysis. Women were categorized into one of the three groups based on their perceptions of choice in consenting for an HIV test. Matrices were used to allow for cross-category and cross-case comparison. Half of the women described having a clear choice in their decision to test. Others were less clear about their choice. Some women felt they had no choice in testing for HIV. None of the women stated that they were tested without having signed a consent form. We found that half of the women's narratives illustrated direct and indirect ways in which providers coerced them into taking an HIV test while receiving antenatal care. As the new guidance on HIV testing is implemented in different settings, it is critical to monitor women's testing experiences to ensure that a woman's right to make an informed, voluntary choice is not violated. Furthermore, models of testing that allow us to meet broader public health goals while simultaneously respecting women's autonomy are needed. [ABSTRACT FROM AUTHOR]

Some pregnant women do book concurrently with multiple antenatal care providers. Structured questionnaires were administered to women attending antenatal clinics in 12 facilities in Enugu, Nigeria. A total of 535 women responded: 372 (69.5%) were booked into more than one facility and 163 (30.5%) were booked into a single facility; 280 (52.3%) booked into the two Teaching Hospitals and 91 (12.5%) booked with a traditional birth attendant. Reasons for multiple bookings included selecting a facility with affordable prices (43.9%); selecting a facility promising vaginal delivery (35.3%); avoiding HIV testing (17.9%); avoiding caesarean section (10.8%); avoiding being regarded as unbooked (10.1%) and booking into a facility where they were not known. Possible disadvantages were confusion in deciding where to deliver (53.1%); default on expert advice (27.5%); mismanagement (18.7%); delays, complications and death (12.5%). Multiple bookings were common in this study. Disadvantages of this practice, including risk of death, were identified by the women. [ABSTRACT FROM AUTHOR]