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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]

Objective: To evaluate the cost-effectiveness of five prenatal screening strategies for trisomies (13/18/21) and other unbalanced chromosomal abnormalities (UBCA), following the introduction of cell-free DNA (cfDNA) analysis.Methods: A model-based cost-effectiveness analysis was performed to estimate prevalence, safety, screening-program costs and healthcare costs of five different prenatal screening strategies, using a virtual cohort of 652 653 pregnant women in France. Data were derived from the French Biomedicine Agency and published articles. Uncertainty was addressed using one-way sensitivity analysis. The five strategies compared were: (i) cfDNA testing for women with a risk following first-trimester screening of ≥ 1/250; (ii) cfDNA testing for women with a risk of ≥ 1/1000 (currently recommended); (iii) cfDNA testing in the general population (regardless of risk); (iv) invasive testing for women with a risk of ≥ 1/250 (historical strategy); and (v) invasive testing for women with a risk of ≥ 1/1000.Results: In our virtual population, at similar risk thresholds, cfDNA testing compared with invasive testing was cheaper but less effective. Compared with the historical strategy, cfDNA testing at the ≥ 1/1000 risk threshold was a more expensive strategy that detected 158 additional trisomies, but also 175 fewer other UBCA. Implementation of cfDNA testing in the general population would give an incremental cost-effectiveness ratio of €9 166 689 per additional anomaly detected compared with the historical strategy.Conclusion: Extending cfDNA to lower risk thresholds or even to all pregnancies would detect more trisomies, but at greater expense and with lower detection rate of other UBCA, compared with the historical strategy. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Ultrasound diagnosis of posterior fossa malformations in the prenatal period is a challenge, having major implications for the counseling and follow-up of pregnant women. The purpose of this study was to review aspects of the ultrasound evaluation of the fetal posterior fossa, as well as to describe the most relevant ultrasound findings of the main posterior fossa malformations that can affect the fetus in the prenatal period. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to investigate whether intraplacental texture features from routine placental MRI can objectively and accurately predict invasive placentation.Material and Methods: This retrospective study includes 99 pregnant women with pathologically confirmed placental invasion and 56 pregnant women with simple placenta previa. All participants underwent magnetic resonance imaging after 24 gestational weeks. The placenta was segmented in sagittal images from both turbo spin echo (TSE) and balanced turbo field echo (bTFE) sequences. Textural features were extracted from the both original and Laplacian of Gaussian (LoG)-filtered MRI images. An automated machine learning algorithm was applied to the extracted feature sets to obtain the optimal preprocessing steps, classification algorithm, and corresponding hyper-parameters.Results: A gradient boosting classifier using all textual features from original and LoG-filtered TSE images and bTFE images identified by the automated machine learning algorithm achieved the optimal performance with sensitivity, specificity, accuracy, and area under ROC curve (AUC) of 100%, 88.5%, 95.2%, and 0.98 in the prediction of placental invasion. In addition, textural features that contributed to the prediction of placental invasion differ from the features significantly affected by normal placenta maturation.Conclusions: Quantifying intraplacental heterogeneity using LoG filtration and texture analysis highlights the different heterogeneous appearance caused by abnormal placentation relative to normal maturation. The predictive model derived from automated machine learning yielded good performance, indicating the proposed radiomic analysis pipeline can accurately predict placental invasion and facilitate clinical decision-making for pregnant women with suspicious placental invasion.Key Points: • The intraplacental texture features have high efficiency in prediction of invasive placentation after 24 gestational weeks. • The features with dominated predictive power did not overlap with the features significantly affected by gestational age. [ABSTRACT FROM AUTHOR]

Objectives In this study we aimed to investigate foetal and maternal pregnancy outcomes from a large multicentre cohort of women diagnosed with MCTD and anti-U1RNP antibodies. Methods This multicentre retrospective cohort study describes the outcomes of 203 pregnancies in 94 consecutive women ever pregnant who fulfilled the established criteria for MCTD with confirmed U1RNP positivity. Results The foetal outcomes in 203 pregnancies were as follows: 146 (71.9%) live births, 38 (18.7%) miscarriages (first trimester pregnancy loss of <12 weeks gestation), 18 (8.9%) stillbirths (pregnancy loss after 20 weeks gestation) and 11 (5.4%) cases with intrauterine growth restriction. Maternal pregnancy outcomes were as follows: 8 (3.9%) developed pre-eclampsia, 2 (0.9%) developed eclampsia, 31 (15.3%) developed gestational hypertension and 3 (1.5%) developed gestational diabetes. Women with MCTD and aPL and pulmonary or muscular involvement had worse foetal outcomes compared with those without. Moreover, we report a case of complete congenital heart block (0.45%) and a case of cutaneous neonatal lupus, both born to a mother with positive isolated anti-U1RNP and negative anti-Ro/SSA antibodies. Conclusion In our multicentre cohort, women with MCTD had a live birth rate of 72%. While the true frequency of heart block associated with anti-U1RNP remains to be determined, this study might raise the consideration of echocardiographic surveillance in this setting. Pregnancy counselling should be considered in women with MCTD. [ABSTRACT FROM AUTHOR]

Background: Prenatal antibody titers for alloimmunized patients are subject to multiple sources of variation. A parallel titer on the previous sample at the same time as the current sample is recommended. The purpose of this study was to determine the added value of parallel titers.Study Design and Methods: This is a retrospective study of samples from consecutive prenatal patients with at least two prenatal antibody titers performed in the same pregnancy at a single institution between October 2010 and March 2017. Prenatal titers were performed using gel technology. Data were collected to determine the sensitivity and specificity of a clinically significant increase (twofold or greater) in serial titers compared with the gold standard of using parallel titers.Results: There were 155 serial prenatal titers performed in 59 alloimmunized pregnant women. Nineteen samples (12%) had a serial titer increase of twofold or greater with eight false positive samples (increase less than twofold when using parallel titers). Thirty-six samples (23%) had a serial titer increase of onefold with two false negative samples (increase of twofold or greater using parallel titers). One hundred samples (65%) had no increase (or a decrease) in serial titer with none having an increase of twofold or greater using parallel titers. The sensitivity of a twofold or greater increase in serial titers was 84.6% (95% CI 55-98%) and the specificity was 94.4% (95% CI 89-98%) when compared with parallel titers.Conclusion: This study questions the value of parallel titers on every prenatal titer performed. When no increase in serial titers was observed, parallel titers added no new information. [ABSTRACT FROM AUTHOR]

Maternal copy number variation (CNV), especially at the X chromosome is an important cause of false positive noninvasive prenatal test (NIPT) results for sex chromosomal aneuploidy. In addition, some maternal CNV can cause significant anomalies if the male fetus was inherited the X chromosome with CNV. During 1000 high risk Korean NIPT, we incidentally detected two cases of maternal X chromosomal CNV which can cause abnormal phenotype in a male fetus. The first false‐positive NIPT case (47, XXY) was due to a maternal 0.5 Mb duplication at Xq28, including the MECP2 gene. The second is a case of an 8‐Mb deletion on maternal Xq24q25, including GRIA3 and XIAP genes. [ABSTRACT FROM AUTHOR]

Objective: In this study, we aimed to assess the factors leading to the diagnosis of conotruncal heart anomaly in the prenatal period by reviewing the records of the cases which were diagnosed with the conotruncal heart anomaly in our perinatology unit, and to raise the awareness of the diagnosis of prenatal conotruncal heart anomaly. Methods: The referral reasons, the presence of concomitant non-cardiac anomaly and chromosomal anomaly, perinatal outcomes of the cases and the confirmation success of the diagnosis at postnatal period of the cases which were diagnosed with the conotruncal hearth anomaly at the Perinatology Unit of Kanuni Sultan Süleyman Training and Research Hospital between January 2015 and December 2016 were evaluated. Results: Among all congenital cardiac anomalies, the incidence of conotruncal heart anomaly was 20.4%. The termination of pregnancy was performed in 37 (36.6%) of 101 cases included in the study. Intrauterine fetal death was observed in 5 (5%) cases. Chromosomal anomaly and non-cardiac additional structural anomaly were found in 26.7% and 34.7% of the cases, respectively. Prenatal diagnosis was confirmed in 52 (88.1%) of 59 (58.4%) cases which born alive. It was found that four-chamber view was abnormal in only 27.7% of the cases. Conclusion: Three vessels (3V) and three vessels trachea (3VT) views should be displayed routinely in basic fetal cardiac screening in order to increase the prenatal diagnosis frequency of these anomalies as four-chamber view is mostly normal in conotruncal heart anomaly. [ABSTRACT FROM AUTHOR]

Prenatal paternity testing often relies on invasive procedures that cause risk to both the mother and the foetus. Non-invasive, prenatal paternity testing by investigating paternally inherited single nucleotide polymorphisms (SNPs) in cell-free foetal DNA (cffDNA) in maternal plasma was performed at consecutive time points during early gestation. Plasma from 15 pregnant women was investigated at consecutive time points from gestational weeks (GWs) 4–20. The Precision ID Identity Panel and an Ion S5 Sequencer was used to analyse the cffDNA. Paternally inherited foetal SNP alleles were detected from GW7. The median foetal fractions were 0%, 3.9%, 5.1%, 5.2%, and 4.7% at GWs 4, 7, 12, 16, and 20, respectively. The corresponding median numbers of detected paternally inherited foetal autosomal SNP alleles were 0, 3, 9, 10, and 12, respectively. The typical (i.e. geometric mean) paternity indices at GW12 and GW20 were 24 (range 0.0035–8389) and 199 (range 5.1–30,137), respectively. The method is very promising. However, the method can be improved by shortening the lengths of the PCR amplicons and increasing the number of SNPs. To our knowledge, this is the first study to successfully identify paternally inherited foetal SNP alleles at consecutive time points in early gestation independently of the foetal gender. [ABSTRACT FROM AUTHOR]

Introduction: Prenatal screening consists of prenatal screening and prenatal diagnosis, which is aspect of prenatal care that focuses on detecting problems with the pregnancy as early as possible. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations. A screening test can only provide risk or a probability and diagnostic tests can provide a definitive answer. Materials and Methods: A questionnaire of 15 questions is prepared online and circulated among pregnant mothers using the SurveyPlanet app. The results were statistically analyzed and the graphs were plotted. Results: When a survey was conducted among pregnant mothers, it was found that only 40% of the women are aware of this prenatal screening test. Conclusion: The survey shows that most of the women undertaking this survey find these tests high on cost which can be a major drawback. Hence, more information about testing options should be given in a non-directive and culturally appropriate way; and the parents should make informed decisions about prenatal testing and diagnosis. [ABSTRACT FROM AUTHOR]

Objective: Real-time fluorescence quantitative PCR(RT-PCR) was used to detect the placenta-specific gene 4 (PLAC4) gene in the peripheral plasma of pregnant women at different gestational weeks in order to find reliable biomarkers for prenatal diagnosis of Down's syndrome and provide a new breakthrough for non-invasive prenatal diagnosis. Methods: According to the standard, 5 healthy non-pregnant women, 60 normal pregnant women (including 20 early pregnancy, 20 medium-term pregnancy and 20 late pregnancy), 8 down syndrome screening high-risk pregnant women and 5 postpartum 24 h women were randomly selected. Then 78 peripheral blood samples were collected from them. Detection of PLAC4 gene content in samples by RT-PCR and relative quantitative analysis. Results: None of healthy non-pregnant women and postpartum 24 h women have detected the PLAC4 mRNA gene, Normal pregnancy at different gestational weeks has detected the PLAC4 mRNA gene. Early pregnancy as a control, PLAC4 mRNA gene content of the medium-term pregnancy was 1.99 times of early pregnancy and late pregnancy PLAC4 mRNA content was 3.73 times of early pregnancy. Down syndrome screening high-risk pregnant women has detected the PLAC4 mRNA gene and content was 6.36 times of early pregnancy. Conclusions: PLAC4 mRNA gene is expected to become the reliable biological indicator of prenatal diagnosis of Down's syndrome. [ABSTRACT FROM AUTHOR]

Background: Alcohol use during pregnancy can have a variety of harmful consequences on the fetus. Lifelong effects include growth restriction, characteristic facial anomalies, and neurobehavioral dysfunction. This range of effects is known as fetal alcohol spectrum disorders (FASD). There is no amount, pattern, or timing of alcohol use during pregnancy proven safe for a developing embryo or fetus. Therefore, it is important to screen patients for alcohol use, inform them about alcohol's potential effects during pregnancy, encourage abstinence, and refer for intervention if necessary. However, how and how often nurses and midwives inquire about alcohol drinking during pregnancy or use recommended screening tools and barriers they perceive to alcohol screening has not been well established. Methods: This survey was sent to about 6,000 American midwives, nurse practitioners, and nurses who provide prenatal care about their knowledge of the effects of prenatal alcohol exposure, the prevalence of alcohol use during pregnancy, and practices for screening patients' alcohol use. Participants were recruited by e‐mail from the entire membership roster of the American College of Nurse‐Midwives. Results: There were 578 valid surveys returned (about 9.6%). Analyses showed that 37.7% of the respondents believe drinking alcohol is safe during at least one trimester of pregnancy. Only 35.2% of respondents reported screening to assess patient alcohol use. Only 23.3% reported using a specific screening tool, and few of those were validated screens recommended for use in pregnant women. Respondents who believe alcohol is safe at some point in pregnancy were significantly less likely to screen their patients. Conclusions: Respondents who reported that pregnancy alcohol use is unsafe felt more prepared to educate and intervene with patients regarding alcohol use during pregnancy and FASD than respondents who reported drinking in pregnancy was safe. Perceived alcohol safety and perceived barriers to screening appeared to influence screening practices. Improving prenatal care provider knowledge about the effects of prenatal alcohol exposure and the availability of valid alcohol screening tools will improve detection of drinking during pregnancy, provide more opportunities for meaningful intervention, and ultimately reduce the incidence of FASD. [ABSTRACT FROM AUTHOR]

There is much global research interest surrounding the use of cell-free DNA (cfDNA) for liquid biopsies. cfDNA-based non-invasive prenatal testing for foetal chromosomal aneuploidies was the first successful application of cfDNA technology that transformed clinical practice – it has since been rapidly adopted in dozens of countries and is used by millions of pregnant women every year. Prompted by such developments, efforts to use cfDNA in other fields, especially for cancer detection and monitoring have been actively pursued in recent years. Cancer-associated aberrations including single nucleotide mutations, copy number aberrations, aberrations in methylation and alterations in DNA fragmentation patterns have been detected in the cfDNA of patients suffering from a wide variety of cancers. In addition, the analysis of methylation and fragmentomic patterns has enabled the tissue origin of cfDNA to be determined. In this review, different approaches for detecting circulating liver-derived nucleic acids and cancer-associated aberrations, as well as their potential clinical applications for the detection, monitoring and management of hepatocellular carcinoma, will be discussed. [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]

Aim: To examine the performance of the combined First Trimester Screening (cFTS) algorithm when outliers of 4 risk parameters (maternal age, nuchal translucency (NT) thickness, PAPP-A and β-hCG) were included in the classification of "high-risk".Methods: A retrospective analysis of singleton pregnancies undergoing cFTS between 2008 and 2011 in Denmark. Abnormal karyotypes were classified as trisomy 21 (T21), trisomy 13 (T13) and trisomy 18 (T18), sex chromosome aberrations and atypical abnormal karyotypes.Results: cFTS was completed in 193,638 pregnancies. In 10,205 (5.3%) cases, cytogenetic or molecular analysis was performed pre- or postnatally. An abnormal karyotype was seen in 1,122 (11.0%). The algorithm identified 87% of T21, 80% of T13, 75% of T18, 79% of sex chromosome aberrations and 35% of atypical abnormal karyotypes. Additional classification of a single risk parameter outlier (low PAPP-A or free β-hCG (< 0.2 MoMs), high β-hCG (≥5.0 MoMs), maternal age ≥45 years or NT ≥3.5 mm) as being at high-risk would have improved detection rates to 88, 80, 81, 81 and 37% respectively. The screen positive rate increased from 4.4 to 4.8%.Discussion: Addition of outliers of the 4 parameters used in cFTS algorithm will lead to a statistically significant increase in detection rates for chromosomal abnormality. [ABSTRACT FROM AUTHOR]

We aimed to determine the correlation between serum alpha-fetoprotein (AFP), the free human chorionic gonadotropin beta subunit (free beta-HCG) in pregnant women during the mid-trimester, and fetal hypospadias, and tried to establish a risk prediction model. A multi-center case-control study was conducted. We divided the fetuses into two groups (69 with fetal hypospadias and 62 without fetal hypospadias). Time-resolved immunofluorescence was used to determine the serum levels of AFP and free beta-HCG. The best cut -value and area under curve (AUC) were determined based on the Receiver operating characteristics (ROC) curve, and the diagnostic value of AFP and free beta-HCG was evaluated. The level of AFP in the study group was 1.14 multiple of Median(MOM), which was higher than in the control group (0.96 MOM); the difference was significant (Z = 2.831, P =.005). Similarly, the free beta-HCG level was 1.30 MOM in the study group, and was also significantly higher than in the control group (0.84 MOM; Z = 3.131, P =.004). We used the AFP and free beta-HCG levels separately to predict fetuses with hypospadias, and the AUCs were 0.644 (95% Confidence interval (CI): 0.5500.737, P =.005) and 0.659 (95% CI: 0.5650.752, P =.002), respectively. According to the ROC curve, the best cut-off values for AFP and free beta-HCG were 0.945 MOM and 1.275 MOM, respectively. When we combined the AFP level with the free beta-HCG level, the AUC was 0.700 (95% CI: 0.610–0.789, P <.001), with a sensitivity of 0.551 and a specificity of 0.855. Combined screening for fetal hypospadias with maternal serum AFP and free beta-HCG levels during the early second trimester has high sensitivity and specificity, which can be used as a new marker. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the impact of cell-free fetal DNA (cfDNA) test on the number of invasive tests carried out in a public hospital that does not include this test in its services. Methods: This was a retrospective cohort study in singleton pregnancies with a high risk (>1:270) on the first-trimester screening for aneuploidies. The options of performing an invasive test or a cfDNA test were explained to all women, the latter being especially recommended to those with a 1:50–1:270 risk (Group 1). If the risk was >1:50 (Group 2), or nuchal translucency (NT) was >99th percentile or there were major malformations (Group 3), invasive test was recommended. Results: A total of 755 of 14,398 (5.2%) cases had a high-risk first-trimester screening, of whom 46 cases were excluded due to incomplete follow-up. In the remaining 709 cases, the percentage of aneuploidies was 9.9% (70 cases) and 110 opted for a cfDNA test (15.5%). There were two true-positive results of cfDNA (one in Group 2 and another in Group 3). In Group 1, 67.4% [95% confidence interval (CI) 60.0%–72.1%, P < 0.01] fewer invasive procedures were performed in those who opted for a cfDNA test, without having false negatives. Conclusion: Pregnant women with a 1:50–1:270 risk who opt for cfDNA save two out of three invasive tests, without affecting the aneuploidy detection rate. [ABSTRACT FROM AUTHOR]

Background. The omphalocele represents a frequent congenital anterior abdominal wall defect with an overall morbidity and mortality that is decided by the expanse of the defect and the severity of associated anomalies. Routine prenatal screening and ultrasound diagnosis of the anterior midline defect and any associated anomalies are considered nowadays a standard of care. Moreover, its diagnosis during pregnancy requires answers regarding the long-term prognosis, motor and cognitive development, and cosmesis. Case presentation. We present the case of a 33-year-old pregnant patient, with 40 weeks of gestation, having the following obstetrical history: gestation 7, vaginal births 6, abortions 0, with the lack of prenatal care due to socioeconomic factors such as low family income and education. The patient presented at the “Elena Doamna” Clinical Hospital of Obstetrics and Gynecology, Iaşi, accusing lower abdominal pain. The obstetrical ultrasound examination revealed a 40-week pregnancy with a single viable fetus with 34 weeks and 5 days estimated age, and 1693 g estimated weight. Furthermore, it was found a defect located at the umbilical cord insertion with the sac that measured 32.8 mm, containing loops of intestines, liver and ascites. Also, it was noticed a laterodeviation of the cord with ventricular septal defect measuring 2.4 mm, and single umbilical artery. Few days later, the patient gave birth by caesarean section to a female newborn, with 2500 g weight and an Apgar score of 2-5-6. The postpartum evolution was not favorable, the newborn being transported to the pediatrics surgery department for evaluation and surgical management. The newborn died in the second day post-surgery. Discussion and conclusions. Normally, the anterior midline abdominal defect occurs at the umbilical cord, with a size between 2 to 10 cm, containing herniating midgut and various organs, such as the liver, spleen and gonads, covered by three layers (the peritoneum, the Wharton’s jelly layer, and the amniotic layer). The outcome in the presented case, which associated fetal growth restriction, was poor. [ABSTRACT FROM AUTHOR]

Objective: Non-invasive prenatal testing (NIPT) based on cell-free fetal DNA (cffDNA) is highly accurate in the detection of common fetal autosomal trisomies. Aim of this project was to investigate short-term costs and clinical outcomes of the contingent use of cffDNA for prenatal screening of trisomies 21, 18, 13 within a national health service (NHS). Methods: An economic analysis was developed from the perspective of the Italian NHS to compare two possible scenarios for managing pregnant women: women managed according to the Standard of Care screening (SoC) vs a cffDNA scenario, where Harmony Prenatal Test was introduced as a second line screening choice for women with an “at risk” result from SoC screening. Results: The introduction of cffDNA as a second line screening test, conditional to a risk ≥ 1:1,000 from SoC screening, showed a 3% increase in the detection of trisomies, with a 71% decrease in the number of invasive tests performed. Total short-term costs (pregnancy management until childbirth) decreased by € 19 million (from € 84.5 to 65.5 million). Conclusion: The adoption of the Harmony Prenatal Test in women resulting at risk from SoC screening, implied a greater number of trisomies detection, together with a reduction of the healthcare costs. [ABSTRACT FROM AUTHOR]

Objective. To understand the cognition, attitude, willingness and demand for non-invasive prenatal testing (NIPT) of pregnant women. Methods . A total of 852 pregnant women were enrolled, including 318 pregnant women with low risk of Down syndrome screened in Xinhua Hospital, Shanghai Jiao Tong University SbJwol of Medicine, and 534 pregnant women with high risk of Down syndrome screened in several hospitals in Shanghai who further went to Xinhua Hospital^Shanghai Jiao Tong University School of Medicine for NIPT to confirm the diagnosis of Down syndrome screening. The information about the cognition, artode, willingness and demand for NIPT was collected by a standard questionnaire. Results . A total of 760 questionnaires were collected, of which 728 ones were valid, with an effective questionnaire rate of 85.45%. The proportion of pregnant women with ideal cognition level was 51.24%. However, 83.10% opregnant women held a positive attitude towards the promotion of NIPT. There were 79.54% of pregnant women considering it necessary to provide genetic counseling before NIPT. Conclusion. It is of great significance to strengthen the prenatal propaganda and education and pre-test genetic counseling so as to improve the cognitive level of pregnant women and make rational use of NIPT. [ABSTRACT FROM AUTHOR]

Objective: To design a clinically based predictive model for the likelihood of successful external cephalic version (ECV).Methods: This single-center retrospective study was conducted from February 2016 to July 2018 and included all candidates for ECV between 36 and 41 weeks of gestation. Variables with a potential effect on ECV success were collected. These variables include: body mass index, amniotic fluid index, gestational age, parity, location of placenta, fetal trunk posture, time in breech presentation before the procedure and the ultrasonographically measured size of the amniotic fluid preceding the fetal presenting part (fore-bag). Variables' association with ECV success was evaluated using a multivariate logistic regression and a decision tree predicting ECV outcome was developed using 75% of the patients and validated on the remaining 25%.Results: Overall, 250 pregnant women were identified and opted for a trial of ECV by a single operator, with a success rate of 64.8%. Body mass index, size of fore-bag, and parity were independent determinants of the version success, whereas other variables had no statistically significant effect on the success rate. Our decision tree model divided the cohort into five subgroups according to various combinations of the three variables. When evaluated on the internal validation set, the C-Index of the tree was 0.933 (0.863-1) and the prediction accuracy was 91.9% (86.5%-97.3%).Conclusion: A prediction model composed of three easily measurable variables enables accurate prediction of successful ECV at term. Fore-bag was identified as the most important discriminator. Our model holds in internal validation and it can be used to support patient counseling and decision making for ECV but should be externally validated. [ABSTRACT FROM AUTHOR]

Objective: The most frequent goal for prenatal diagnosis is to detect pregnancies with Down syndrome. Since karyotyping, which is the golden standard for the diagnosis, has not been replaced with a non-invasive method, pregnant women in the risk group should choose the method such as CVS and amniocentesis. Therefore, screening tests are performed by non-invasive method, and pregnant women under risk are provided genetic consultation and the family is expected to make a decision for invasive procedure. Methods: One thousand pregnant women who were at second trimester, provided genetic consultation in a reference center offering Perinatology and Medical Genetics clinical services, who were candidate for chromosomal analysis, but only had increased risk in biochemical screening or due to advanced maternal age were included in the study. The requests of partners, who were accompanying during genetic consultation, of the pregnant women who approved the procedure, invasive procedure decision and the factors affecting this decision were listed. Results: We observed that the pregnant women came for genetic consultation with an accompanying individual as the pregnant women felt that they were in a stressful environment when they came for genetic consultation. More than half of the pregnant women (52.1%) shared their decision right after genetic consultation. Almost two third of the pregnant women (63%) stated that they decided to undergo amniocentesis. The factors affecting this decision are the worthiness of pregnancy in terms of the family and potential risks of invasive procedure in general. Conclusion: Genetic consultation is one of the most important tools of patient-doctor relationship. It is very effective thanks to its informative nature especially for making a decision for invasive procedure in pregnant women and deciding for the progression of pregnancy upon invasive test results. In this study, we aimed to emphasize the significance on genetic consultation of knowing demographic distribution according to geographical characteristics of our country, and being aware that a population, which is diverse in terms of sociocultural aspects in particular due to the cosmopolite nature of metropolitan cities such as Istanbul, gets service. [ABSTRACT FROM AUTHOR]

Purpose  This project developed and evaluated the efficacy of a game decision aid among pregnant women about prenatal screening in a randomized controlled study. Study Design  Participants were recruited from an obstetric clinic of an academic urban medical center and randomized (n  = 73) to one of two study groups: the control group (n  = 39) that used a brochure or the intervention group (n  = 34) that also used a game decision aid. Result  Participants who played the game had higher knowledge scores (m  = 21.41, standard deviation [SD] = 1.74) than participants in the control group (m  = 19.59; SD = 3.31), p  = 0.004. The median time of game playing was 6:43 minutes (range: 2:17–16:44). The groups were similar in frequency of completing screening after the study, control = 6 (15%) versus intervention = 11 (32%), p  = 0.087. However, the more interaction with the game resulted in more positive attitudes toward screening. Conclusion  The addition of a game decision aid was effective in educating pregnant women about prenatal screening. As other genetic testing decisions continue to increase within clinical care, game-based decision tools may be a constructive method of informed decision-making. [ABSTRACT FROM AUTHOR]

Objectives: The soluble fms-like tyrosine kinase-1 (sFlt-1) to placental growth factor (PlGF) ratio is generally elevated some time before and at the clinical onset of pre-eclampsia. The PROGNOSIS study validated a sFlt-1/PlGF ratio cut-off of ≤ 38 to rule out the onset of pre-eclampsia within 1 week of testing in women with suspected disease. The aim of this study was to assess the predictive value of the sFlt-1/PlGF ratio to rule out the onset of pre-eclampsia for up to 4 weeks, and to assess the value of repeat measurements.Methods: This was an exploratory post-hoc analysis of data from the PROGNOSIS study performed in pregnant women aged ≥ 18 years with suspected pre-eclampsia, who were at 24 + 0 to 36 + 6 weeks' gestation at their first clinic visit. Serum samples were collected at the first visit and weekly thereafter. sFlt-1 and PlGF levels were measured using Elecsys® sFlt-1 and PlGF immunoassays. Whether the sFlt-1/PlGF ratio cut-off of ≤ 38 used to rule out the onset of pre-eclampsia within 1 week could predict the absence of pre-eclampsia 2, 3, and 4 weeks post-baseline was assessed. The value of repeat sFlt-1/PlGF testing was assessed by examining the difference in sFlt-1/PlGF ratio 2 and 3 weeks after the first measurement in women with, and those without, pre-eclampsia or adverse fetal outcome.Results: On analysis of 550 women, sFlt-1/PlGF ratio ≤ 38 ruled out the onset of pre-eclampsia 2 and 3 weeks post-baseline with high negative predictive values (NPV) of 97.9% and 95.7%, respectively. The onset of pre-eclampsia within 4 weeks was ruled out with a high NPV (94.3%) and high sensitivity and specificity (66.2% and 83.1%, respectively). Compared with women who did not develop pre-eclampsia, those who developed pre-eclampsia had significantly larger median increases in sFlt-1/PlGF ratio at 2 weeks (∆, 31.22 vs 1.45; P < 0.001) and at 3 weeks (∆, 48.97 vs 2.39; P < 0.001) after their initial visit. Women who developed pre-eclampsia and/or adverse fetal outcome compared with those who did not had a significantly greater median increase in sFlt-1/PlGF ratio over the same period (∆, 21.22 vs 1.40; P < 0.001 at 2 weeks; ∆, 34.95 vs 2.30; P < 0.001 at 3 weeks).Conclusion: The Elecsys® immunoassay sFlt-1/PlGF ratio can help to rule out the onset of pre-eclampsia for 4 weeks in women with suspected pre-eclampsia. © 2018 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Prenatal Diagnostic Testing for Down's syndrome suspicion can have multiple physical and psychological implications. Women going through this process experience negative emotions both at the time of the invasive procedure and while waiting for the results. The aim of this study was to outline the emotional profile of women while waiting for the results and to assess the psychological disturbance experienced by them. It included 40 women who completed the Profile of Mood States questionnaire and a demographics, experience, and knowledge questionnaire. Two-thirds of the women surveyed experienced anxiety, almost a quarter of them depression, a third anger, confusion, acute distress, and 15% total distress. The level of knowledge was medium and the perception of risk far from reality. The emotional profile obtained highlights the disturbance of the women's psychoemotional state. For better awareness and diminishing negative emotions, women who go through this process should benefit from adequate individualized information as well as genetic counselling. [ABSTRACT FROM AUTHOR]

Abstract Objective To assess the applicability of magnetic resonance imaging (MRI) to complement ultrasound in the diagnosis of fetal urinary tract anomalies. Methods This was a retrospective cohort study that included 41 women between 19 weeks and 37 weeks and 6 days of gestation carrying fetuses with malformations of the urinary tract which were initially diagnosed by ultrasound and then referred for MRI. In all cases, the diagnosis was confirmed after birth either through imaging or autopsy. A surface coil was positioned over the abdomen and T2-weighted sequences were obtained in the axial, coronal, and sagittal planes; T1 in at least one plane; and three-dimensional (3-D) TRUFI in fetuses with dilatation of the urinary tract. Results Mean gestational age at the time of MRI examination was 28.21 weeks. The rapid T2 sequences allowed all the anomalies of the fetal urinary tract to be assessed, whereas 3-D TRUFI sequencing proved very useful in evaluating anomalies involving dilatation of the urinary tract. The signs of pulmonary hypoplasia characterized by hypointense signal in the T2-weighted sequences were identified in 13 of the 41 fetuses. Conclusion MRI confirmed and added information to the ultrasound regarding fetal urinary tract anomalies, as well as information related to the other associated malformations, their progress in the prenatal period, and possible postnatal prognosis. [ABSTRACT FROM AUTHOR]

Aim: In anatomic studies of the embryo, it has been established that during the development of the lower limb, several changes in foot position can be observed defined as a temporary 'physiological clubfoot'. The aim of this study was to develop and test a measurement tool for objective documentation of the first trimester foot position in vivo and made an attempt to create a chart for first trimester foot position. Methods: We developed a virtual orthopedic protractor for measuring foot positioning using three‐dimensional virtual reality visualization. Three‐dimensional ultrasound volumes of 112 pregnancies of women examined during the first trimester were studied in a BARCO I‐Space. The frontal angle (plantar flexion) and the lateral angle (adduction) between the leg and foot were measured from 8 until 13 weeks gestational age. Results: We observed that the frontal angle steadily decreases, whereas the lateral angle first increases, resulting in transient physiological clubfeet position at 10‐ to 11‐week gestation, followed by a decrease to a normal foot position. Conclusion: A transient clubfoot position is present during the normal development of the lower limbs, and it has been measured in vivo for the first time. This study emphasizes that a diagnosis of congenital clubfoot should not be made in the first trimester of pregnancy. [ABSTRACT FROM AUTHOR]

Purpose: Alterations in renal dimensions may be an early manifestation of deviation from normality, with possible repercussions beyond intrauterine life. The objective of this study was to establish reference curves for fetal kidney dimensions and volume from 14 to 40 weeks of gestation.Methods: This is a prospective longitudinal study of 115 Brazilian participants in the "WHO multicentre study for the development of growth standards from fetal life to childhood: the fetal component". Pregnant women with clinical and sociodemographic characteristics allowing the full potential fetal growth were followed up from the first trimester until delivery. These women underwent serial sonographic evaluation of fetal kidneys. The longitudinal, anteroposterior and transverse diameters of both fetal kidneys were measured, in addition to calculation of kidney volume. By quantile regression analysis, reference curves of renal measurements related to gestational age were built.Results: Standard normal sonographic values of renal biometry were defined during pregnancy. Reference values for the 10th, 50th and 90th centiles of different fetal kidney measurements (longitudinal, anteroposterior, transverse and volume) from the 14th to the 40th week of gestation were fitted.Conclusion: The reference curves presented should be of the utmost importance for screening and diagnosis of alterations in renal development during the intrauterine period. [ABSTRACT FROM AUTHOR]

Background: Antenatal anxiety or maternal stress is a prevalent chronic mental disorder in pregnant women. We have assessed the effect of maternal stress from positive aneuploidy screening results on the changes in uterine artery blood flow. Materials and Methods: We performed a prospective cohort (one sample) pilot study at a hospital in Tehran, Iran. A total of 60 pregnant women who were candidates for amniocentesis due to abnormal sequential screening test results entered the study. We conducted 2 standard psychological tests, the Spielberger's State-Trait Anxiety Inventory and the Beck Anxiety Inventory, to determine anxiety levels in the participants before amniocentesis and two weeks after amniocentesis. The uterine artery resistance index was also measured before and two weeks after amniocentesis. The level of maternal stress was compared with the uterine artery resistance index. Results: Patients had a mean State Trait Anxiety Inventory score before amniocentesis of greater than 40, which meant that the mothers experienced high anxiety. There were no correlations between both inventories' anxiety scores and uterine artery blood flow before amniocentesis. However, two weeks after amniocentesis, we observed significant negative correlations between the State Anxiety (P=0.0041) and Trait Anxiety (P=0.010) Inventory scores and the uterine artery resistance indexes. Also, there was an association between the decreased right uterine artery resistance index and State Anxiety scores (P=0.036). There were significant correlations between State and Trait Anxiety scores and second trimester analytes of β-human chorionic gonadotropin (β-hCG, P<0.001), α-fetoprotein (P<0.001), and unconjugated estriol (P=0.048). Conclusion: Maternal anxiety because of positive aneuploidy screening serum analytes and amniocentesis can affect perinatal outcomes via mood-based alterations in blood flow of the uterine arteries and the screening markers β-hCG,unconjugated estriol, and α-fetoprotein. [ABSTRACT FROM AUTHOR]

Small supernumerary marker chromosomes (sSMCs), or markers, are abnormal chromosomal fragments that can be hereditary or de novo. Despite the importance of sSMCs diagnosis, de novo sSMCs are rarely detected during the prenatal diagnosis process. Usually, prenatally diagnosed de novo sSMCs cannot be correlated with a particular phenotype without knowing their chromosomal origin and content; therefore, molecular cytogenetic techniques are applied to achieve this goal. The present study aimed to characterize an sSMC in a case of Klinefelter syndrome using an in-house microsatellite analysis method and fluorescent in situ hybridization (FISH) technique. Amniotic fluid was collected from a pregnant woman who was considered to have risk factors for trisomy higher than the screening cut-off. Karyotype analysis was followed by the amplification of different microsatellite loci and FISH technique. Karyotype analysis identified a fetus with an extra X chromosome and also an sSMC with unknown identity. Further investigation of the parents showed that the sSMC is de novo. Microsatellite amplification by quantitative fluorescent PCR (QF-PCR) and FISH analysis showed that the sSMC is a derivative of chromosome 18. Eventually, the patient decided to terminate the pregnancy. Here, the first case of the coincidence of sSMC 18 in a Klinefelter fetus is reported. [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]

Background Perinatal transmission is the major mode of hepatitis B virus (HBV) transmission and drives HBV endemicity in the US territory of Guam. We assessed correlates of prenatal hepatitis B surface antigen (HBsAg) screening and HBsAg positivity among pregnant women and evaluated the care of infants of HBsAg-positive women. Methods Demographic and clinical data were abstracted from the maternal medical records of 966 randomly selected live infants born in 2014. Frequencies were calculated, and prevalence ratios (PRs) and 95% confidence intervals (CIs) were estimated using Poisson regression. Results Among the mothers of the 966 infants, 78.2% were Pacific Islanders, 56.9% were >25 years old (born before universal infant hepatitis B vaccination in Guam), 89.0% received prenatal care (PNC), 96.7% underwent prenatal HBsAg screening, and 2.0% were HBsAg positive. Approximately 15% of the women who did not have PNC were not screened for HBsAg. Receipt of PNC was associated with HBsAg screening (adjusted PR, 1.13 [95% CI, 1.04–1.23]), and HBsAg positivity was associated with a maternal age of >25 years (adjusted PR, 6.80 [95% CI, 1.32–35.08]). All 18 infants of the HBsAg-positive mothers received hepatitis B vaccine, and 17 (94.4%) received hepatitis B immunoglobulin. Conclusion Although the prenatal HBsAg screening prevalence in this sample was high, the maternal HBsAg prevalence among women in this sample was more than 14 times and 2 times the prevalence among US-born Pacific Islander/Asian women and all women in the continental United States, respectively. Improving access to PNC, ensuring that all pregnant women in Guam (especially those born before universal hepatitis B vaccination) are screened for HBsAg, and adopting postexposure prophylaxis for infants of HBsAg-positive mothers as standard clinical practice are important for preventing perinatal HBV transmission and reducing HBV endemicity. [ABSTRACT FROM AUTHOR]

Purpose: Up to one-third of female smokers with Medicaid deny tobacco use during pregnancy. Point-of-care urine tests for cotinine, a tobacco metabolite, can help to identify women who may benefit from cessation counseling. We sought to evaluate patient and clinician perspectives about using such tests during prenatal care to identify smokers, with particular focus on the impact of testing on clinical relationships and the potential for tobacco cessation.Methods: We conducted 19 individual interviews and 4 focus groups with 40 pregnant or postpartum women covered by Medicaid who smoked before or during pregnancy. Patients also took the urine cotinine test and received sample results. Interviews were conducted with 20 health care practitioners. We analyzed the transcripts using an inductive approach and developed a model of how prenatal testing for cotinine could affect the patient-clinician relationship.Results: Patients were more likely than clinicians to believe that testing could encourage discussions on tobacco cessation but emphasized that the clinician's approach to testing was critical. Clinicians feared that testing would negatively affect relationships.Conclusions: Despite having reservations, low-income patients had a surprisingly favorable view of using point-of-care urine testing to promote smoking cessation during pregnancy, which could increase the availability of cessation resources to women who do not disclose their tobacco use to clinicians. [ABSTRACT FROM AUTHOR]

Background: Anti-HPA-1a alloantibodies in HPA-1a negative mothers can lead to fetal/neonatal alloimmune thrombocytopenia (FNAIT). Noninvasive prenatal testing (NIPT) of HPA-1a determines fetuses at risk and the course of maternal antenatal treatment.Study Design and Methods: The aim was to develop and validate HPA-1a NIPT by real-time polymerase chain reaction (PCR) or next-generation sequencing (NGS) for a high-throughput screening setting. DNA from 328 plasma samples of 299 HPA-1a negative pregnant women was examined for HPA-1a by real-time PCR and in two cases also by NGS (Ion Torrent). The results were compared with neonatal HPA-1a genotyping in 281 cases.Results: HPA-1a NIPT was negative in 44 of 51 HPA-1a negative fetuses, inconclusive in five, and false positive in two. In 228 of 229 HPA-1a positive fetuses, the NIPT results were positive (mean threshold cycle 36.0 ± 1.7) and inconclusive in one. In 22 cases with HPA-1a positive fetuses analyzed twice, the sensitivity of HPA-1a detection was significantly higher at 28 weeks compared with 16 to 20 weeks. NGS efficiently detected the ITGB3 coding HPA-1a/b (1% and 5% fetal HPA-1a reads).Conclusion: Real-time PCR is reliable to predict the fetal HPA-1a positive genotype in a screening study, but false-positive results are reported in 4%, with unnecessary prenatal treatment if anti-HPA-1a is detected. [ABSTRACT FROM AUTHOR]

Introduction: Since anti-D immunoprophylaxis given to D-negative pregnant women is a blood product, blood donations have an impact on the availability of prophylactic doses. The Pan American Health Organization reported, in June 2017, that less than half of blood donors are volunteers in Latin America and the Caribbean. In these countries, guidelines for use of anti-D prophylaxis are still controversial. The aim of this study was to demonstrate the convenience of a simple and cost-effectivene non-invasive prenatal diagnostic assay for anti-D prophylaxis optimization in multiethnic populations. Methods: Cell-free fetal DNA from plasma samples of D-negative pregnant women were analyzed by real-time PCR for simultaneous amplification of sequences of exons 5 and 10 of the RHD gene. Fetal RHD genotype was determined in 111 pregnant women. Neonates' phenotype was determined 72 h after birth. Results: Genotyping predicted fetal phenotype with 100% accuracy. Prenatal diagnosis showed 78% RHD-positive and 22% RHD-negative neonates. Conclusion: We demonstrated that, beyond the large genetic variation of the Rh system and the numerous D variants present in multiethnic groups, non-invasive fetal RHD genotyping using two sequences of the gene can be enough for clinical application in an admixed population. This robust technique of simple implementation allows to determine fetal RHD in maternal blood with high sensitivity, specificity, and accuracy. The introduction of fetal RhD genotyping as part of an antenatal screening program constitutes a reliable manner to optimize anti-D prophylaxis; however, it has not been implemented so far in most American countries. [ABSTRACT FROM AUTHOR]

Objective. The aim of the study was to determine sonographers’ experiences with the introduction of an offer of noninvasive prenatal testing (NIPT) to a new moderate-risk (MR) group at the combined first-trimester prenatal screening (cFTS). Study Design. A qualitative approach consisting of seven semistructured interviews with five sonographers (midwives and nurses). Data was analyzed using thematic analysis. Main Outcome Measures. Sonographers’ perception of offering NIPT to women in MR. Results. The sonographers understood NIPT as a positive development in prenatal screening due to a safe procedure and high detection rates for trisomies 13, 18, and 21. Prior to the introduction of MR, the sonographers were concerned about inducing worry in pregnant women in this new risk group. However, the pregnant women responded very positively, which the sonographers attributed to several factors such as the women’s overall reason for participating in prenatal screening, the simplicity of the NIPT procedure, and the communicative strategies used by the sonographers. The strategies included all sonographers using the same words and explanations, emphasizing that statistics were in the women’s favor, initiating the presentation of MR with a positive message, and downplaying the MR category. Conclusion. Sonographers’ communicative strategies succeeded in limiting worry in pregnant women in MR. As such, the findings are valuable for health professionals, who are responsible for communicating about prenatal screening results and diagnostic options. [ABSTRACT FROM AUTHOR]

Objective: Accurate assessment of gestational age (GA) is critical to paediatric care, but is limited in developing countries without access to ultrasound. Our objectives were to assess the accuracy of prediction of GA at birth and preterm birth classification using routinely collected anthropometry measures.Design: Prospective cohort study.Setting: United States.Population or Sample: A total of 2334 non-obese and 468 obese pregnant women.Methods: Enrolment GA was determined based on last menstrual period, confirmed by first-trimester ultrasound. Maternal anthropometry and fundal height (FH) were measured by a standardised protocol at study visits; FH alone was additionally abstracted from medical charts. Neonatal anthropometry measurements were obtained at birth. To estimate GA at delivery, we developed three predictor models using longitudinal FH alone and with maternal and neonatal anthropometry. For all predictors, we repeatedly sampled observations to construct training (60%) and test (40%) sets. Linear mixed models incorporated longitudinal maternal anthropometry and a shared parameter model incorporated neonatal anthropometry. We assessed models' accuracy under varied scenarios.Main Outcome Measures: Estimated GA at delivery.Results: Prediction error for various combinations of anthropometric measures ranged between 13.9 and 14.9 days. Longitudinal FH alone predicted GA within 14.9 days with relatively stable prediction errors across individual race/ethnicities [whites (13.9 days), blacks (15.1 days), Hispanics (15.5 days) and Asians (13.1 days)], and correctly identified 75% of preterm births. The model was robust to additional scenarios.Conclusions: In low-risk, non-obese women, longitudinal FH measures alone can provide a reasonably accurate assessment of GA when ultrasound measures are not available.Tweetable Abstract: Longitudinal fundal height alone predicts gestational age at birth when ultrasound measures are unavailable. [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]

Introduction: In Denmark, first trimester screening has a very high uptake (>90%). If Down syndrome is diagnosed, termination rates are high (>95%). The aim of this study was to investigate the timing of the decision to terminate pregnancy following a diagnosis of Down syndrome and the factors influencing this decision.Material and Methods: Semi-structured, qualitative interview study with 21 couples who had received a prenatal diagnosis of Down syndrome and decided to terminate the pregnancy. Participants were recruited from obstetric departments between February 2016 and July 2017. Data were analyzed using thematic analysis.Results: Five themes were identified: "initial decision-making", "consolidating the decision", "reasons and concerns shaping the termination of pregnancy decision", "the right decision is also burdensome", and "perceived influences in decision-making". For most couples, the initial decision to terminate pregnancy was made before or during the diagnostic process, but it was re-addressed and consolidated following the actual diagnosis. Imagining a family future with a severely affected Down syndrome child was the main factor influencing the termination of pregnancy decision. The decision was articulated as "right" but also as existentially burdensome for some, due to fear of regret and concern about ending a potential life. The decision to terminate pregnancy was considered a private matter between the couple, but was refined through interactions with clinicians and social networks.Conclusion: All couples made an initial decision prior to receiving the Down syndrome diagnosis. Knowledge of the couple's initial decision may facilitate patient-centered communication during and after the diagnostic process. Couples may benefit from counseling to deal with grief and existential concerns. [ABSTRACT FROM AUTHOR]

Background: Considering that ethnicity and gestational age (GA) could affect the value of nuchal fold thickness (NFT) in mid-trimester, we aimed to determine the reference intervals of NFT values for each gestational week from 16 to 24 weeks of pregnancy among a group of Iranian pregnant women. Materials and Methods: In this cross-sectional study, medical files of pregnant women who underwent fetal anomaly scanning at 16-24 weeks of gestation were reviewed and the following data were extracted: GA, value of NFT, value of nuchal translucency (NT) in their previous ultrasound study, if available, and head circumference (HC). The 5th, 25th, 50th, 75th, and 95th percentiles of NFT for each gestational week were determined. The association between NFT and HC, GA, and NT were also determined. Results: Medical files of 882 pregnant women were studied. The expected 95th percentile value of NFT between 16th and 24th weeks of gestation ranged from 4 mm to 5.9 mm. The mean (standard deviation) of NFT increased with GA from 2.67 (0.90) mm at 16th weeks to 4.69 (0.71) mm at 24th weeks. There was a significant positive association between NFT and GA (β = 1.11, P < 0.001), HC (β = 0.21, P < 0.001), and NT (β = 0.351, P < 0.001). Conclusion: The findings of this study revealed that before the 20th week of gestation, the appropriate cutoff value of NFT is 5 mm, and for 21st to 24th weeks, the proper cutoff is 6 mm. However, for providing more conclusive results, further studies with larger sample size and considering the impact of other influencing variables are recommended. [ABSTRACT FROM AUTHOR]

Abstract In 2004 the Danish National Board of Health changed its screening recommendations. Since 2005 a first trimester screening for Down syndrome and a prenatal ultrasound screening for congenital anomalies in the second trimester of pregnancy has been offered to all pregnant women. The aim of this study was to describe the prevalence of cleft lip with or without cleft palate and cleft palate in a Danish area and to describe associated anomalies and the development in prenatal diagnosis over time. The study was based on data from the EUROCAT Registry for Funen County. The registry is based on multiple data sources and includes information about live births, fetal deaths with a gestational age >20 weeks and terminations of pregnancy after prenatal diagnosis of severe fetal anomaly. The study included all fetuses/infants out of a population of 182,907 births diagnosed with orofacial clefts born between 1980 and 2014. There were 271 cases diagnosed with cleft lip with or without cleft palate and 127 cases diagnosed with cleft palate, giving a prevalence of 14.8 per 10,000 births for cleft lip with or without cleft palate and 6.9 per 10,000 births for cleft palate. There were no significant changes in prevalence over time for the two anomalies, calculated with and without inclusion of genetic and chromosomal cases. Overall 66 cases were diagnosed prenatally (17% of total). For isolated cleft lip with or without cleft palate none of the 157 cases born before 2005 were diagnosed prenatally compared to 34 of 58 cases (59%) born in 2005–2014 (p < 0.01). The proportion of liveborn infants with multiple congenital anomalies also changed after 2005 with 15% (39/266) of all liveborn infants with orofacial clefts born 1980–2004 having multiple anomalies compared to 7% (7/96) in 2005–2014 (p < 0.05). The implementation of the new screening programme in 2005 has given a major change in prenatal detection rate and reduced the proportion of liveborn infants with orofacial clefts classified as multiple congenital anomaly cases. The prevalence of cleft lip with or without cleft palate was higher than reported from many other countries. [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]

Ultrasound is routinely used as a prenatal screening and diagnostic tool but has limitations. Some anomalies in the developing fetal brain can be difficult to detect, and in utero magnetic resonance imaging (iuMRI) is increasingly used as an adjunct to ultrasound. However, understandings of patient perspectives of iuMRI technology are still developing. Our qualitative study of 41 mothers who experienced iuMRI was embedded in a diagnostic accuracy trial and aimed to inform policy recommendations that might stem from the clinical findings. Our analysis suggests that iuMRI is seen as useful, offering valuable additional information and helping women make decisions about care options at a difficult time. However, patients’ experiences demonstrated the uncertainty and anxiety associated with the prenatal diagnosis (PND) process relating to brain anomalies including the challenges of their embodied contributions. Our findings suggest more could be done to reduce the impact on pregnant women during an already difficult, anxious period. [ABSTRACT FROM AUTHOR]

Objective: To explore the prevalence of asymptomatic SARS-CoV-2 in the maternity population.Study Design: Newham University Hospital based in East London serving a population with the highest death rate secondary to SARS-CoV-2 in the UK, commenced universal screening of all admissions to the Maternity Unit from 22nd April to 5th May, 2020. A proforma was created to capture key patient demographics, indication for admission and presence of SARS-CoV-2 related symptoms at the point of presentation.Results: A total of 180 women with a mean age of 29.9 (SD 7.4) years, at a median gestation of 39 (IQR 37 + 1-40 + 3) weeks underwent universal screening with nasopharyngeal PCR swabs during the two-week period of the study. BAME identity or parity was not associated with the likelihood of a positive result. Seven women (3.9 %, 1.6-7.8) were tested positive for SARS-CoV-2, of whom 6 (3.3 %, 1.2-7.1) were asymptomatic; 85.7 % (42.1-99.6) of the SARS-CoV-2 positive women were asymptomatic. The sensitivity of symptom-driven testing was 14.3 % (0.36-57.87) and specificity was 91.86 % (86.72-95.48) with a positive predictive value of 6.67 % (1.08-31.95) and a negative predictive value of 96.34 % (95.10-97.28).Conclusion: The prevalence of SARS-CoV-2 in the maternity population served by Newham University Hospital was 3.9 %, four weeks after lockdown. Of the women who were found to be SARS-CoV-2 positive, a high proportion (87.9 %) were asymptomatic. These findings support the need for universal testing to enable targeted isolation and robust infectious control measures to mitigate outbreaks of SARS-CoV-2 in maternity units. [ABSTRACT FROM AUTHOR]

To explore the proportion of the absence of umbilical artery (AUA) in singleton pregnancy and its correlation with the fetal malformations of various systems. Methods：Data of 130 cases of singleton pregnancies confirmed as single umbilical artery (SUA) by postpartum pathology were retrospectively analyzed. According to the results of prenatal ultrasound examination, they were divided into the left AUA group and the right AUA group, and the incidence of malformations of different systems between the two groups was compared. Results：The incidence of SUA in singleton pregnancy was 0.59% (130/22 055). Among the 130 cases of SUA, the incidence of isolated SUA was 70% (91/130) and the incidence of non-isolated SUA was 30% (39/130). Among them, 30 cases (30/130, 23.1%) complicated with cardiovascular malformations were the most common. Among the 130 cases of SUA, there were 82 cases of left AUA and 48 cases of right AUA (63.1% vs. 36.9%); The incidence of multiple malformations and complex cardiovascular malformations in the left AUA group was significantly higher than that in the right AUA group (24.4% vs. 8.3%, P=0.023; 23.2% vs. 6.3%, P=0.013). Conclusions：In singleton pregnancy with SUA fetus, the left AUA is more common，and it is more likely to be associated with multiple malformations and complex cardiovascular malformations. [ABSTRACT FROM AUTHOR]

The article discusses the U.S. Preventive Services Task Force (USPSTF) and the American College of Obstetricians and Gynecologists' recommendations on screening for hepatitis B virus (HBV) infection in pregnant women. Topics discussed include the high-risk criteria for prenatal screening, cost-effectiveness of HBV screening of pregnant women and immunization of at-risk newborns and HBV-targeted antiviral treatment for pregnant women with high-level of HBV viremia.

Objective. The aim of this study was to determine if the use of different mappers for NIPT may vary the results considerably. Methods. Peripheral blood was collected from 217 pregnant women, 58 pathological (34 pregnancies with trisomy 21, 18 with trisomy 18, and 6 with trisomy 13) and 159 euploid. MPS was performed following a manufacturer’s modified protocol of semiconductor sequencing. Obtained reads were mapped with two different software programs: TMAP and HPG-Aligner, comparing the results. Results. Using TMAP, 57 pathological samples were correctly detected (sensitivity 98.28%, specificity 93.08%): 33 samples as trisomy 21 (sensitivity 97.06%, specificity 99.45%), 16 as trisomy 18 (sensibility 88.89%, specificity 93.97%), and 6 as trisomy 13 (sensibility 100%, specificity 100%). 11 false positives, 1 false negative, and 2 samples incorrectly identified were obtained. Using HPG-Aligner, all the 58 pathological samples were correctly identified (sensibility 100%, specificity 96.86%): 34 as trisomy 21 (sensibility 100%, specificity 98.91%), 18 as trisomy 18 (sensibility 100%, specificity 98.99%), and 6 as trisomy 13 (sensibility 100%, specificity 99.53%). 5 false positives were obtained. Conclusion. Different mappers use slightly different algorithms, so the use of one mapper or another with the same batch file can provide different results. [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]