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Background: We used two 3D ultrasound volumes of fetal heads at 13 weeks to create live-size 3D-printed phantoms with a view to training or assessment of diagnostic abilities for normal and abnormal nuchal translucency measurements. The phantoms are suitable for use in a water bath, imitating a real-life exam. They were then used to study measurement accuracy and reproducibility in examiners of different skill levels. Methods: Ultrasound scans of a 13 + 0-week fetus were processed using 3D Slicer software, producing a stereolithography file for 3D printing. The model, crafted in Autodesk Fusion360™, adhered to FMF guidelines for NT dimensions (NT 2.3 mm). Additionally, a model with pathologic NT was designed (NT 4.2 mm). Printing was performed via Formlabs Form 3® printer using High Temp Resin V2. The externally identical looking 3D models were embedded in water-filled condoms for ultrasound examination. Eight specialists of varying expertise levels conducted five NT measurements for each model, classifying them in physiological and abnormal models. Results: Classification of the models in physiological or abnormal NT resulted in a detection rate of 100%. Average measurements for the normal NT model and the increased NT model were 2.27 mm (SD ± 0.38) and 4.165 mm (SD ± 0.51), respectively. The interrater reliability was calculated via the intraclass correlation coefficient (ICC) which yielded a result of 0.883, indicating robust agreement between the raters. Cost-effectiveness analysis demonstrated the economical nature of the 3D printing process. Discussion: This study underscores the potential of 3D printed fetal models for enhancing ultrasound training through high inter-rater reliability, consistency across different expert levels, and cost-effectiveness. Limitations, including population variability and direct translation to clinical outcomes, warrant further exploration. The study contributes to ongoing discussions on integrating innovative technologies into medical education, offering a practical and economical method to acquire, refine and revise diagnostic skills in prenatal ultrasound. Future research should explore broader applications and long-term economic implications, paving the way for transformative advancements in medical training and practice. [ABSTRACT FROM AUTHOR]

Background: Maternal gestational diabetes (GDM), small (SGA) and large (LGA) for gestational age neonates are associated with increased morbidity in both mother and child. We studied how different levels of first trimester pregnancy associated plasma protein-A (PAPP-A) and free beta human chorionic gonadotropin (fβ-hCG) were associated with SGA and LGA in GDM pregnancies and controls. Methods: Altogether 23 482 women with singleton pregnancies participated in first trimester combined screening and delivered between 2014 and 2018 in Northern Finland and were included in this retrospective case-control study. Women with GDM (n = 4697) and controls without GDM (n = 18 492) were divided into groups below 5th and 10th or above 90th and 95th percentile (pc) PAPP-A and fβ-hCG MoM levels. SGA was defined as a birthweight more than two standard deviations (SD) below and LGA more than two SDs above the sex-specific and gestational age-specific reference mean. Odds ratios were adjusted (aOR) for maternal age, BMI, ethnicity, IVF/ICSI, parity and smoking. Results: In pregnancies with GDM the proportion of SGA was 2.6% and LGA 4.5%, compared to 3.3% (p = 0.011) and 1.8% (p < 0.001) in the control group, respectively. In ≤ 5th and ≤ 10th pc PAPP-A groups, aORs for SGA were 2.7 (95% CI 1.5–4.7) and 2.2 (95% CI 1.4–3.5) in the GDM group and 3.8 (95% CI 3.0–4.9) and 2.8 (95% CI 2.3–3.5) in the reference group, respectively. When considering LGA, there was no difference in aORs in any high PAPP-A groups. In the low ≤ 5 percentile fβ-hCG MoM group, aORs for SGA was 2.3 (95% CI 1.8–3.1) in the control group. In fβ-hCG groups with GDM there was no association with SGA and the only significant difference was ≥ 90 percentile group, aOR 1.6 (95% CI 1.1–2.5) for LGA. Conclusion: Association with low PAPP-A and SGA seems to be present despite GDM status. High PAPP-A levels are not associated with increased LGA risk in women with or without GDM. Low fβ-hCG levels are associated with SGA only in non-GDM pregnancies. [ABSTRACT FROM AUTHOR]

Purpose: This study aimed to determine the association of first-trimester maternal serum biomarkers with preterm birth (PTB), fetal growth restriction (FGR) and hypertensive disorders of pregnancy (HDP) in twin pregnancies. Methods: This is a retrospective cohort study of twin pregnancies followed at Maternidade Dr. Alfredo da Costa, Lisbon, Portugal, between January 2010 and December 2022. We included women who completed first-trimester screening in our unit and had ongoing pregnancies with two live fetuses, and delivered after 24 weeks. Maternal characteristics, pregnancy-associated plasma protein-A (PAPP-A) and β-human chorionic gonadotropin (β-hCG) levels were analyzed for different outcomes: small for gestational age (SGA), gestational hypertension (GH), early and late-onset pre-eclampsia (PE), as well as the composite outcome of PTB associated with FGR and/or HDP. Univariable, multivariable logistic regression analyses and receiver-operating characteristic curve were used. Results: 466 twin pregnancies met the inclusion criteria. Overall, 185 (39.7%) pregnancies were affected by SGA < 5th percentile and/or HDP. PAPP-A demonstrated a linear association with gestational age at birth and mean birth weight. PAPP-A proved to be an independent risk factor for SGA and PTB (< 34 and < 36 weeks) related to FGR and/or HDP. None of the women with PAPP-A MoM > 90th percentile developed early-onset PE or PTB < 34 weeks. Conclusion: A high serum PAPP-A (> 90th percentile) ruled out early-onset PE and PTB < 34 weeks. Unless other major risk factors for hypertensive disorders are present, these women should not be considered candidates for aspirin prophylaxis. Nevertheless, close monitoring of all TwP for adverse obstetric outcomes is still recommended. [ABSTRACT FROM AUTHOR]

Background: This study assesses the effects of the 'Radiant' image enhancement technique on fetal nuchal translucency (NT) measurements during first-trimester sonographic exams. Methods: A retrospective analysis of 263 ultrasound images of first-trimester midsagittal sections was conducted. NT measurements were obtained using a semi-automatic tool. Statistical methods were applied to compare NT measurements with and without 'Radiant' enhancement. An in vitro setup with predefined line distances provided additional data. Results: Incremental increases in NT measurements were observed with varying levels of 'Radiant' application: an average increase of 0.19 mm with 'Radiant min', 0.24 mm with 'Radiant mid', and 0.30 mm with 'Radiant max.' The in vitro results supported these findings, showing consistent effects on line thickness and measurement accuracy, with the smallest mean deviation occurring at the 'Radiant mid' setting. Conclusions: 'Radiant' image enhancement leads to significant increases in NT measurements. To avoid systematic biases in clinical assessments, it is advisable to disable 'Radiant' during NT measurement procedures. Further studies are necessary to corroborate these findings and to consider updates to the NT reference tables based on this technology. [ABSTRACT FROM AUTHOR]

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Objective: The aim of this study was to evaluate the relationship between maternal serum PAPP-A (pregnancy-associated plasma protein A) and free ß-hCG (human chorionic gonadotropin) values with fetal birth weight. Material and Methods: 554 patients who applied to Yıldırım Beyazit University Atatürk Training and Research Hospital Obstetrics Clinic between January 2009 and December 2016 for first trimester combined screening tests were included in the study. Antenatal follow-up and pregnancy outcomes were examined. The relationship between adjusted multiples of median (MoM) values of maternal serum PAPP-A and free ß-hCG levels and fetal birth weight (FBW); small for gestational age (SGA--fetal birth weight <10th percentile) and large for gestational age (LGA--fetal birth weight > 90th percentile) were analyzed. Results: Maternal serum PAPP-A level was found to have a relationship with SGA development (p=0.03). Every decrease per unit in the adjusted MoM value of maternal serum PAPP-A level increases the risk of SGA development three times (RR, 1/0.333; 95% CI, 0.1-0.8, p=0.030). Conclusion: Correlation between PAPP-A value and SGA was found to be statistically significant. However, a similar prediction was not eligible between maternal serum PAPP-A level and LGA fetuses. On the other hand, maternal serum free ß-hCG level did not have a statistical significance as a predictor for both SGA and LGA fetuses. [ABSTRACT FROM AUTHOR]

Introduction: The aim of this cross‐sectional questionnaire study was to investigate motivation to participate in a possible new screening for preeclampsia in the first trimester of pregnancy among Danish pregnant women through a questionnaire based on Theory of Planned Behavior developed for this specific purpose. The new screening combines maternal characteristics with mean arterial pressure, uterine artery pulsatility index and biochemical markers to predict the risk of preeclampsia, whereas the current Danish screening uses maternal characteristics alone. Material and methods: Participation was offered to a proportion of women attending a first or a second trimester screening scan at two University Hospitals in Copenhagen. The questionnaire was set up in REDCap® and answers were entered directly into the database, which was accessed via a QR‐code. Results: We invited 772 pregnant women to participate in the questionnaire survey between November 2021 and April 2022 at Copenhagen University Hospital Rigshospitalet (study site one) (n = 238) and Copenhagen University Hospital Hvidovre (study site two) (n = 534). The response rate was 71.8% (171/238) at study site one and 33.9% (181/534) at study site two. A total of 352 women were included in the study (total participation rate 45.6%). Most women had a positive attitude towards preeclampsia screening in pregnancy, and 99.4% said they would participate in a risk assessment for preeclampsia if given the opportunity. A total of 97.4% answered "yes" to whether a first trimester preeclampsia screening should be offered to all pregnant women in Denmark. Positive motivation to participate in preeclampsia screening was correlated with having a network with a positive attitude towards preeclampsia screening. Conclusions: The results of this study indicate that Danish pregnant women have a positive attitude towards participation in a first trimester screening for preeclampsia. This observation might be useful in relation to possible future implementation in Denmark. [ABSTRACT FROM AUTHOR]

Purpose: Abnormal flow in the ductus venosus (DV) has been reported to be associated with adverse perinatal outcome, chromosomal abnormalities, and congenital heart defects (CHD). Aneuploid fetuses have increased risk of CHD, but there are discrepancies on the performance of this markers in euploid fetuses. The aim of this meta-analysis was to establish the predictive accuracy of DV for CHD. Methods: MEDLINE, EMBASE, and CINAHL were searched from inception to February 2022. No language or geographical restrictions were applied. Inclusion criteria regarded observational and randomized studies concerning first-trimester DV flow as CHD marker. Random effect meta-analyses to calculate risk ratio (RR) with 95% confidence interval (CI), hierarchical summary receiver-operating characteristics (HSROC), and bivariate models to evaluate diagnostic accuracy were used. Primary outcome was the diagnostic performance of DV in detecting prenatal CHD by means of area under the curve (AUROC). Subgroup analysis for euploid, high-risk, and normal NT fetuses was performed. Quality assessment of included papers was performed using QUADAS-2. Results: Twenty two studies, with a total of 204.829 fetuses undergoing first trimester scan with DV Doppler evaluation, fulfilled the inclusion criteria for this systematic review. Overall, abnormal DV flow at the time of first trimester screening was associated to an increased risk of CHD (RR 6.9, 95% CI 3.7–12.6; I2 = 95.2%) as well in unselected (RR: 6.4, 95% CI 2.5–16.4; I2 = 93.3%) and in euploid (RR: 6.45, 95% CI 3.3–12.6; I2 = 95.8%) fetuses. The overall diagnostic accuracy of abnormal DV in detecting CHD was good in euploid fetuses with an AUROC of 0.81 (95% CI 0.78–0.84), but it was poor in the high-risk group with an AUROC of 0.66 (95% CI 0.62–0.70) and in the unselected population with an AUROC of 0.44 (95% CI 0.40–0.49). Conclusions: Abnormal DV in the first trimester increases the risk of CHD with a moderate sensitivity for euploid fetuses. In combination with other markers (NT, TV regurgitation) could be helpful to identify fetuses otherwise considered to be at low risk for CHD. In addition to the improvement of the fetal heart examination in the first trimester, this strategy can increase the detection of major CHD at earlier stage of pregnancy. [ABSTRACT FROM AUTHOR]

To evaluate different cut-off values of first trimester pregnancy associated plasma protein-A (PAPP-A) in screening for adverse pregnancy outcomes in a retrospective cohort study. During the study period of 1.1.2014–31.12.2018, total of 23,482 women with singleton pregnancies participated in first trimester combined screening for chromosomal abnormalities. Maternal serum PAPP-A multiple of medians (MoM) levels were measured, and study population was divided into three study groups of PAPP-A ≤0.40 (n=1,030), ≤0.35 (n=630) and ≤0.30 (n=363) MoM. Small for gestational age (SGA), preterm birth (PTB) and composite outcome (SGA, hypertensive disorder of pregnancy (HDP) and/or PTB) were more frequent in all three PAPP-A MoM study groups and pre-eclampsia in ≤0.40 and ≤0.35 study groups than in their control groups (p < 0.05). The odds ratio (OR) for SGA varied from 3.7 to 5.4 and sensitivity and specificity from 6.9 to 13.8% and from 95.9 to 98.6%, between study groups. Using PAPP-A ≤0.30 MoM as a screening cut-off instead of PAPP-A ≤0.40 MoM, resulted in approximately 50% reduction in screening detection of SGA and PTB. PAPP-A ≤0.40 MoM should be considered as a primary screening cut-off for adverse pregnancy outcomes as approximately 23% will develop either SGA, HDP or PTB. It seems to be the best cut-off to screen for SGA. [ABSTRACT FROM AUTHOR]

Copyright of Ginecología y Obstetricia de México is the property of Federacion Mexicana de Ginecologia y Obstetricia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Enhanced first trimester aneuploidy screening (eFTS) combines serum biomarkers and ultrasound. Abnormal biomarkers are associated with placental complications, such as fetal growth restriction (FGR). We aimed to evaluate whether a Midtrimester placental scan can provide reassurance regarding FGR in women with abnormal eFTS biomarkers. Methods: We conducted a retrospective cohort study of women who had eFTS and delivered at a single referral center. Women with abnormal biomarkers had a mid-trimester scan of the placenta (morphologic assessment, fetal biometry and uterine artery pulsatility index). We compared pregnancies with abnormal eFTS biomarkers and normal placental scans (study group) with those who had normal eFTS biomarkers (control group). Results: A total of 6,514 women were included, of whom 343 (5.3%) comprised the study group. Women in the study group had an increased risk of hypertensive disorders of pregnancy [(aOR)1.96(95%CI 1.21–3.16)], and preterm birth <37 weeks [aOR1.98(95%CI 1.33–2.95)] compared to the control group. Yet, their neonates were not at higher risk for FGR <3rd, 5th, or 10th percentile [aOR1.16(95%CI 0.83–1.63), 1.14(95%CI 0.70–1.87), and 0.47(95%CI 0.17–1.27), respectively]. Conclusion: A normal second trimester placental scan provided reassurance regarding the risk of FGR in women at high risk based on abnormal eFTS biomarkers. [ABSTRACT FROM AUTHOR]

Objective: The objective of the study was to study the effect of preimplantation genetic testing for aneuploidies (PGT-A) performed at blastocyst stage on the levels of first trimester biomarkers. Methods: This is an observational, collaborative, retrospective study. Seven hundred and twenty-eight patients were included in the study. Patients were with singleton pregnancies resulting from either natural conception (NC), or assisted reproductive techniques (ARTs) with PGT-A and frozen embryo transfer (FET) (ART/PGT-A/FET) or after ART without PGT-A and fresh ET (ART/no PGT-A/fresh ET) or FET (ART/no PGT-A/FET), who had first trimester combined screening test between 11 and 14 gestational weeks. They were stratified into four groups: group A (ART/PGT-A/FET) – 143 patients; group B (ART/no PGT-A/FET) – 100 patients; group C (ART/no PGT-A/fresh ET) – 346 patients, and group D (NC) – 139 patients. Results: Statistically significant differences among the examined groups were observed for maternal age, BMI, ethnicity, and parity. The median placenta-associated plasma protein (PAPPA) was lowest in the group with ART/PGT-A/FET and the highest result was obtained in the group with ART/no PGT-A/FET. Statistically significant difference in the median PAPP-A levels was identified among the examined groups (p = .0186). When a subgroup analysis was performed, a statistically significant difference was observed in the median PAPP-A between ART/ PGT-A/FET group versus ART/no PGT-A/FET group (p = .01) and NC versus ART/no PGT-A/FET (p = .01). A similar trend toward statistical significance was noted when comparing NC versus ART/no PGT-A/fresh ET (p = .06). Multivariate analysis elucidated that when age is present in the model, the effect of any method of conception or testing for aneuploidy disappears. The other factors (BMI, ethnicity, and parity) do not influence the levels of PAPP-A. The lowest median free human chorionic gonadotropin (b-HCG) was recorded in the NC group and the highest result was identified in the group with IVF/PGT-A/FET. No statistically significant difference was observed in the median concentration levels of free b-hCG among the compared groups (p = .5789) and when subgroup analysis was performed (p>.05). The normality of the distribution of variables was analyzed by the Kolmogorov–Smirnov test and the median PAPP-A and free bhCG concentration difference by the Wilcoxon rank-sum test with nonparametric ANOVA. Conclusions: Testing for aneuploidy (PGT-A) and the decision to transfer either fresh or cryopreserved embryos (ET) appear not to affect the levels of first trimester biochemical markers. The findings of the present study should be a baseline for future studies and could be used to improve the antenatal screening counseling for women with ART pregnancies and PGT-A. [ABSTRACT FROM AUTHOR]

Objective To compare the feasibility of performing a complete first trimester fetal anatomy screening between two operators with different levels of experience using the protocol of the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG), and to compare the duration of scan and learning curve of each operator as secondary outcomes. Methods A prospective study was conducted on singleton pregnancies at 11+0–13+6 weeks of gestation. Transabdominal ultrasound anatomy screening was performed by a maternal fetal medicine (MFM) staff (operator 1) or a first year MFM fellow (operator 2) following ISUOG guidelines. The visibility of fetal structures and time taken by each operator were recorded and analyzed. Results Data from 98 participants in operator 1 group and 96 participants in operator 2 group were analyzed. The success rate of visualizing all structures was feasible in 87.8% and 91.7% (p = .370) of cases in operator 1 and operator 2, respectively. The significant improvement in visualization success rate was observed between the first 50 and the last 50 scans in both groups (p = .004 vs. p = .006). Average time spent on the exam by operator 1 was significantly shorter than the time spent by operator 2 (11.3 ± 4.8 min vs. 15.0 ± 6.2 min; p < .001). Conclusion Completeness of first trimester fetal anatomy screening following ISUOG protocol were feasible with no statistical difference between the two different levels of experienced operators. Moreover, time allocatable with a brief learning curve were demonstrated in both groups. [ABSTRACT FROM AUTHOR]

Objective: To compare the predictive performance for preterm‐pre‐eclampsia (PE) in first‐trimester screening by serum placental growth factor (PlGF) versus pregnancy associated plasma protein‐A (PAPP‐A), in combination with maternal risk factors, mean arterial pressure (MAP) and uterine artery pulsatility index (UtA‐PI), after adjustment for the effect of aspirin in women receiving this treatment. Design Non‐intervention multicentre screening studies for PE in singleton pregnancies. Setting: Maternity hospitals. Population Two independent prospective studies of 8775 and 16 451 women with singleton pregnancies attending for routine assessment at 11+0–13+6 weeks' gestation. Methods: The competing risks model was used to estimate patient‐specific risks of delivery with PE at <37 weeks' gestation based on maternal risk factors and combinations with MAP, UtA‐PI and either PlGF or PAPP‐A. McNemar's test was used to compare the detection rate (DR) of preterm‐PE of screening utilising PlGF versus PAPP‐A, after adjustments for the effects of aspirin. Main outcome measure: Predictive performance for preterm‐PE. Results: In the combined data of 25 226 women, including 678 (2.7%) who developed PE, there were 194(0.8%) with preterm‐PE. Addition of PlGF improved the DR of preterm‐PE, at 10% screen positive rate, by 18.4% (95% CI 12.2–24.6) in screening by maternal risk factors, by 19.9% (95% CI 13.6–26.2) in screening by maternal factors and MAP, and by 7.0% (95% CI 2.3–11.6) in screening by maternal factors, MAP and UtA‐PI. PAPP‐A did not significantly improve the DR provided by any combination of biomarkers. Conclusion: The predictive performance of first trimester PlGF for preterm‐PE is superior to that of PAPP‐A. The predictive performance for preterm pre‐eclampsia of first trimester PlGF is superior to that of PAPP‐A. Linked article: This article is commented on by Howard Cuckle, pp. 1318 in this issue. To view this minicommentary visit https://doi.org/10.1111/1471-0528.17099. This article includes Author Insights, a video abstract available at https://vimeo.com/bjog/authorinsights17096 [ABSTRACT FROM AUTHOR]

Screening for chromosomal disorders, especially for trisomy 21, has undergone a number of changes in the last 50 years. Today, cell-free DNA analysis (cfDNA) is the gold standard in screening for trisomy 21. Despite the advantages that cfDNA offers in screening for common trisomies, it must be recognized that it does not address many other chromosomal disorders and any of the structural fetal anomalies. In the first trimester, the optimal approach is to combine an ultrasound assessment of the fetus, which includes an NT measurement, with cfDNA testing. If fetal structural defects are detected or if the NT thickness is increased, an amniocentesis or a CVS with at least chromosomal microarray should be offered. [ABSTRACT FROM AUTHOR]

Objective: In this study, we report the indications for prenatal cytogenetic diagnosis of triploid cases, in an attempt to identify clues to early diagnosis.Study Design: This was a retrospective analysis of prenatal cases of triploidy during a 9-year period at mainland China. Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, fetal ultrasound findings, and pregnancy outcomes.Results: A total of 22 singleton pregnancies affected with triploid fetuses were detected. The fetal karyotype included 69,XXX (72.7%) and 69,XXY (27.3%). Eighteen cases were identified by the first trimester screening program. One case was missed by maternal cell-free DNA testing, but detected by second trimester anatomy scan. Three cases escaped the first trimester screening and were detected by second trimester anatomy scan.Conclusions: The present study demonstrates that most triploid cases can be diagnosed prenatally during the first trimester. The early asymmetrical fetal growth restriction, structural anomalies, and extremely high risk serum screening result for trisomy 21 or 18 should alert the physicians to the investigation of triploidy.Key Message: Ultrasound-based first-trimester screening plays a major role in early diagnosis of fetal triploidy. Future replacement of routine first-trimester screening by cell-DNA testing might miss the chance of early diagnosis and management of triploid pregnancies. [ABSTRACT FROM AUTHOR]

We evaluated the association of nuchal translucency (NT) values above 99th percentile with perinatal outcomes. Materials and methods: Singleton pregnancies with NT values above 99th percentile were investigated. Pregnancies were divided into 3 groups: group 1, NT = 2.6–<3.5 mm; group 2, NT = 3.5–4.5 mm; and group 3, NT > 4.5 mm. Demographic features, clinical characteristics, structural/chromosomal anomaly rates and perinatal outcomes were compared. Results: Normal ultrasonographic anatomy was found in 47.5%, 7.7%, and 14.3% of groups 1, 2, and 3, respectively (p = 0.006). Group 3 had the lowest normal karyotype rate (44.6%) (p = 0.005). Higher frequencies for both miscarriage and pregnancy termination were observed in group 3 compared to group 1 (8.9% vs. 4.9% and 66.1% vs. 32.7%, respectively) (p = 0.02). The lowest rate of normal postnatal anatomic findings was found in group 3 (10.7%) (p = 0.01). Conclusion: NT values above 99th percentile for gestational age seem to be associated with increased rates of chromosomal/structural abnormalities and adverse perinatal outcomes. [ABSTRACT FROM AUTHOR]

To identify the most common ultrasound patterns of markers and anomalies associated with Patau syndrome (PS), to explore the efficacy of multiparameter sonographic protocols in detecting trisomy 13 (T13) and to analyze the influence of maternal age (MA) on screening performance. The project was a prospective study based on singleton pregnancies referred for a first-trimester screening examination. The scan protocol included nuchal translucency (NT), fetal heart rate (FHR), secondary ultrasound markers [nasal bone (NB), tricuspid regurgitation (TR), ductus venosus reversed a-wave (revDV)] and major anomaly findings. The study population comprised 6133 pregnancies: 6077 cases of euploidy and 56 cases of T13. Statistically significant differences were found in MA, FHR, NT, absence of NB, presence of revDV, TR and single umbilical artery. Fourteen cases of T13 (25%) demonstrated no markers of aneuploidy. The best general detection rate (DR) (DR of 78.6% with an false positive rate (FPR) of 1.2%) was obtained for a cutoff of 1/300 utilizing the "NT+T13" algorithm. The logistic regression model revealed that the central nervous system (CNS) anomalies had the greatest odds ratio (of 205.4) for T13. The effectiveness of the multiparameter sonographic protocol used for T13 screening showed promising results in patients older than 36 years and suboptimal results in patients between 26 and 36 years old. When screening for T13 left heart defects, CNS anomalies, abdominal anomalies, FHR above the 95th percentile, increased NT, revDV and lack of NB should receive specific attention. [ABSTRACT FROM AUTHOR]

Background: Placental dysfunction, inflammation and degradation of fetal membranes has been hypothesized as a cause of preterm prelabor of rupture of membranes.Objective: To examine the effect of aspirin, an anti-inflammatory agent, on the prevalence of preterm prelabor rupture of membranes (PPRoMs).Methods: A retrospective analysis was conducted to examine the effect of aspirin on the prevalence of PPRoM. Aspirin (150 mg, nocte) was prescribed to women who were identified through a screening program at 11-13+6 weeks' gestation as being at high risk for developing early-onset preeclampsia. Women who were at low risk for developing preeclampsia did not receive aspirin. The prevalence of PPRoM was compared with an observational cohort.Results: In the observational cohort, there were 3027 women, including 32 (1.1%) cases of PPRoM. The prevalence of PPRoM in the high risk group was 3.1% (4/128) and was statistically significantly higher compared to the low risk group (1.0%) (28/2899). The relative risk was 3.02 (95% CI 1.2-7.7; p= .04). In the interventional cohort, there were 7280 women, with 114 (1.6%) cases of PPRoM. The prevalence of PPRoM in the high risk group who were treated with aspirin was 1.8% (14/766) compared to 1.5% (100/6516) in the low risk group (p= .54). The prevalence of PPRoM in high risk patients in the observational group (who did not receive aspirin) compared with the high risk patients in the interventional group (who were treated with aspirin) was not statistically significant (p= .31).Conclusions: PPRoM is significantly associated with a description of high risk for ePET; although, this algorithm is not a good screening tool for predicting PPRoM. Aspirin treatment of women deemed high risk for ePET is safe in the context of PPRoM and there may be some reduction in prevalence of PPRoM in treated high risk women; although, this study was not powered to demonstrate a small reduction in the prevalence of PPRoM. The findings merit further investigation through a larger prospective study with adequate sample size. [ABSTRACT FROM AUTHOR]

Copyright of Ginecología y Obstetricia de México is the property of Federacion Mexicana de Ginecologia y Obstetricia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Preeclampsia (PE) and intrauterine growth restriction (IUGR) are major causes of maternal and perinatal morbidity and mortality. Previous studies have shown that intervention with low-dose aspirin resulted in a reduction in the occurrence of preterm PE. However, no data are currently available on the effect of low-molecular-weight heparin (LMWH) for the prevention of pregnancy complications in women enrolled at first trimester screening.Objective: We aimed to assess the effectiveness of LMWH in the prevention of PE, IUGR, fetal death, and abruptio placentae in women classified as high risk based on their medical history and in women selected by first trimester screening of PE. Study -Design: This was a multicenter, randomized, open-label, parallel controlled trial in women without thrombophilia between 6.0 and 15.6 weeks of gestation. Inclusion criteria were severe PE or IUGR before 34 weeks of gestation and/or abruptio placentae or unexplained intrauterine death in a previous pregnancy; uterine artery mean pulsatility index Doppler >95th percentile and/or positive first trimester screening for PE. Pregnant women were randomly assigned to receive no intervention or LMWH until the 36th week of gestation. The primary composite outcome consisted of 1 or more of the following: development of PE, IUGR, abruptio placentae, and intrauterine fetal death.Results: A total of 278 pregnant women were randomly allocated to receive LMWH (n = 134) or no intervention (n = 144). Overall, 115 (41%) women experienced placental insufficiency complications, with no significant differences between the 2 arms: 50/144 (34.7%) in the LMWH arm and 43/134 (32%) in the control arm (p = 0.64, OR: 1.13, 95% CI: 0.68-1.85).Conclusion: LMWH did not reduce the incidence of placenta-mediated complications either in women with previous adverse obstetric history without thrombophilia or in women selected by first trimester screening for PE. Based on these results, we cannot recommend the use of LMWH alone in women at risk of placental complications. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the performance of first trimester maternal serum glycosylated (Sambucus nigra lectin-reactive) fibronectin in prediction of gestational diabetes mellitus (GDM). Methods: In this case–control study, first trimester maternal serum glycosylated fibronectin and fibronectin were measured in 19 women who consequently developed GDM and in 59 control women with normal pregnancy outcomes. Adiponectin was used as a reference protein to evaluate relation of glycoprotein to SNA-lectin-reactive assay format. Samples were taken during gestational weeks 9+6–11+6. Data concerning GDM was obtained from the National Institute for Health and Welfare, which records the pregnancy outcomes of all women in Finland. Results: There was no difference in maternal serum glycosylated fibronectin concentrations between women with consequent GDM [447.5 μg/mL, interquartile range (IQR) 254.4–540.9 μg/mL] and control women (437.6 μg/mL, IQR 357.1–569.1 μg/mL). Maternal serum fibronectin levels were significantly lower in GDM group (224.2 μg/mL, IQR 156.8–270.6 μg/mL), compared to the control group (264.8 μg/mL, IQR 224.6–330.6 μg/mL, p < 0.01). There was no difference in assay formats for adiponectin. Conclusion: There was no association between first trimester maternal serum glycosylated (SNA-reactive) fibronectin and GDM. [ABSTRACT FROM AUTHOR]

Introduction: Preeclampsia affects about 10% of twin pregnancies and significantly increases the risk of adverse pregnancy outcomes. However, screening models for preeclampsia in twin pregnancies remain elusive. The present study aimed to evaluate the performance of a multi-marker first trimester preeclampsia screening model in low-risk twin pregnancies.Material and Methods: Between 2014 and 2017, we prospectively assessed first trimester biomarkers for preeclampsia in a 'low-risk' twin pregnancy cohort at a single center. Multiple logistic regression was used to determine significant predictors for early preeclampsia (occurring prior to 34 weeks) and late preeclampsia (occurring after 34 weeks). The performance of the screening models fitted using the significant predictors was calculated using receiver operating characteristics curves, and internal validation was performed using bootstrapping.Results: A total of 769 twin pregnancies were included in the study. Early preeclampsia and late preeclampsia developed in 27 (3.5%) and 59 (7.7%) cases, respectively. Logistic regression analyses showed that maternal age, body mass index, mean artery pressure and placental growth factor were significant predictors for early preeclampsia. Maternal age, body mass index, mean artery pressure and pregnancy-associated plasma protein A were significant for late preeclampsia. Uterine artery pulsatility index was not predictive of either early or late preeclampsia. For the fitted screening model of early and late preeclampsia, the areas under receiver operating characteristics curves were 0.82 (95% confidence interval [CI] 0.76-0.88) and 0.66 (95% CI 0.59-0.73), which were expected to decrease to 0.77 and 0.60, respectively, based on bootstrapping; the positive predictive values were 10.2% and 12.5%; and the estimated detection rates were 40.7% and 22.0%, respectively, at a false-positive rate of 10%.Conclusions: A multi-marker screening model for preeclampsia in low-risk twin pregnancies, using a modified version of Fetal Medicine Foundation predictors in singletons, does not perform well. Uterine artery pulsatility index is of little value in screening for preeclampsia in low-risk twin pregnancies. [ABSTRACT FROM AUTHOR]

Posterior fossa ultrasound appearance may offer clues for brain anomalies as early as the first trimester. The purpose of the study was to find an easy, reproducible method to examine the posterior fossa. From January 2017 to March 2018, 132 consecutive pregnancies presenting for first-trimester screening, were selected at 11-14 weeks' gestation. An oblique axial view of the fetal head was routinely achieved with visualization of the posterior fossa, wherein the cisterna magna (CM) and the fourth ventricle (V4) anteroposterior diameter was measured. Moreover, 81 patients had a follow-up scan at 19-24 weeks, and the CM and transverse cerebellar diameter (TCD) were measured. Normal ranges were established at 11-14 weeks for CM and V4 according to crown-rump length (CRL). The 50th centile for CM ranges from 1.2 mm to 2.3 mm at a CRL between 45 and 85 mm. The V4 50th centile ranges from 1.8 to 2.4 mm. A positive correlation was found between the first-trimester and second-trimester CM diameter and between the first-trimester V4 and second-trimester TCD. There is an inverse correlation between the first-trimester CM and second-trimester TCD. The measurements of different components of the posterior fossa in the first trimester cannot predict the size of CM and TCD in the second trimester. The presence of the three hypoechoic structures (cerebral peduncles, V4, and CM) separated by two hyperechoic lines is easy to see and measure. [ABSTRACT FROM AUTHOR]

Background: We hypothesized that earlier gestational diabetes mellitus (GDM) diagnosis and treatment of high-risk women would reduce gestational weight gain (GWG) in the first trimester and overall. Materials and Methods: We evaluated timing of GDM diagnosis among 5,391 pregnant women who delivered singleton births 2010–2013 in a large diverse health maintenance organization (HMO). All GDM screening was by the same oral glucose tolerance testing protocol; GDM treatment protocols were also consistent irrespective of timing of diagnosis. Women without risk factors were universally screened at 24–28 weeks gestation (Usual). Early screening was recommended in obese and other high-risk women at the first prenatal visit; those who screened negative Early were rescreened at 24–28 weeks (Early+Usual). Results: Average GWG for all women was 12.8 kg; 10.7% of women were diagnosed with GDM. Average GWG for all women diagnosed with GDM was 10.7 kg, adjusted for gestational age. Women with EarlyGDM averaged 2.4 kg less GWG than women diagnosed with UsualGDM (p < 0.0001). Among obese women, only women diagnosed with EarlyGDM averaged overall GWG within Institute of Medicine (IOM) weight guidelines (mean 8.1 kg) and were weight neutral in the first trimester (-0.2 kg). Overall, 43% of all pregnant women exceeded IOM GWG guidelines (gained more total weight than recommended); 60% of obese women exceeded guidelines. Obese women diagnosed with GDM were less likely to exceed IOM guidelines if diagnosed earlier in pregnancy (35% EarlyGDM vs. 59% UsualGDM exceeded guidelines, p < 0.0001). Conclusion: Our results suggest that EarlyGDM diagnosis (and thus treatment) in high-risk women is beneficial for optimizing GWG. [ABSTRACT FROM AUTHOR]

Objective: Concordance-analysis and evaluation of existing algorithms detecting late-onset preeclampsia during first trimester screeningMethods: Retrospective cohort study investigating risk algorithms of late-onset preeclampsia during first trimester screening in a German prenatal center. Three previously developed algorithms including anamnestic factors (Apriori) and biophysical markers (BioM) were investigated by using detection rates (DR) with fixed FPR 10% and fixed cutoff >1:100. Furthermore, we set up a concordance-analysis of test results in late-onset preeclampsia cases to examine the effect of influencing factors and to detect potential weaknesses of the algorithms. Therefore, we modeled the probability of discordances as a function of the influencing factors based on a logistic regression, that was fitted using a Bayesian approach.Results: 6,113 pregnancies were considered, whereof 700 have been excluded and 5,413 pregnancies were analyzed. 98 (1.8%) patients developed preeclampsia (79 late-onsets, 19 early-onsets). The Apriori-algorithm reaches a DR of 34.2%, by adding BioM (MAP and UtA-PI) the DR improves to 57.0% (FPR of 10%). In concordance-analysis of Apriori algorithm and Apriori+BioM algorithms, influencing factor BMI<25 increases the chance of discordances sigificantly. Additional, in the subgroup of late-onset preeclampsias with BMI<25 the DR is higher in Apriori+BioM algorithms than in Apriori algorithm alone. If both compared algorithms include BioM, influencing factor MAP decreases the chance of discordances significantly. All other tested influencing factors do not have a statistically significant effect on discordancesConclusion: Normal-weight patients benefit more from the integration of MAP and UtA-PI compared to overweight/obese patients. [ABSTRACT FROM AUTHOR]

Objective: To increase the detection rate of preterm preeclampsia (PE) first trimester combined screening tests are being developed. The aim of this review is to create an overview of the currently investigated screening markers, algorithms and their validations.Methods: Comprehensive review of the literature concerning first trimester screening for PEResults and conclusions: Studies investigating a total of 160 biochemical, 6 biophysical and 14 ultrasound markers could be identified. Of the 21 algorithms published, mainly the algorithm published by the Fetal Medicine Foundation London has been validated. This algorithm performes significantly better than screening by anamnestic risk factors only. [ABSTRACT FROM AUTHOR]

Background: The Fetal Medicine Foundation developed a multiple logistic regression algorithm for risk prediction of delivering a small for gestational age neonate. Aim: To validate this algorithm in an Australian population. Methods: At the combined first trimester screen participants' medical histories, demographic data, mean arterial pressure, uterine artery pulsatility index and pregnancy‐associated plasma protein‐A were assessed. After delivery, risk of delivering a small for gestational age neonate at <37 or ≥37 weeks gestation was retrospectively calculated using the Fetal Medicine Foundation algorithm. Results: Three thousand and eight women underwent prediction of risk for delivering a small for gestational age neonate. The algorithm detected 15.0% (95% CI: 3.2–37.9) of small for gestational age neonates delivered <37 weeks gestation at a fixed 10% false positive rate (or 35.0% (95% CI: 15.4–59.2) at a fixed 20% false positive rate). It detected 23.4% (95% CI: 16.1–30.7) of small for gestational age neonates delivered ≥37 weeks gestation at a fixed 10% false positive rate (or 39.1% (95% CI: 30.7–47.5) at a fixed 20% false positive rate). The algorithm performed significantly better than individual parameters (P < 0.05). The area under the receiver operating characteristic curve was 0.68 (95% CI: 0.56–0.80) and 0.70 (95% CI: 0.65–0.74) for small for gestational age neonates at <37 and ≥37 weeks gestation, respectively. Conclusions: The Fetal Medicine Foundation algorithm for first trimester prediction of small for gestational age neonates does not perform as well in an Australian population as in the original United Kingdom cohort. However, it performs significantly better than any individual test parameter in both preterm and term neonates. Incorporation of further variables may help improve screening efficacy. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the performance of first trimester biochemical markers, pregnancy-associated plasma protein-A (PAPP-A), free beta human chorionic gonadotropin (fβ-hCG), and nuchal translucency (NT) in detection of severe congenital heart defects (CHDs). Methods: During the study period from 1 January 2008 to 31 December 2011, biochemical markers and NT were measured in 31,144 women as part of voluntary first trimester screening program for Down's syndrome in Northern Finland. Data for 71 severe CHD cases and 762 controls were obtained from the hospital records and from the National Medical Birth Register, which records the birth of all liveborn and stillborn infants, and from the National Register of Congenital Malformations that receives information about all the CHD cases diagnosed in Finland. Results: Both PAPP-A and fβ-hCG multiple of median (MoM) values were decreased in all severe CHDs: 0.71 and 0.69 in ventricular septal defects (VSDs), 0.58 and 0.88 in tetralogy of Fallot cases (TOFs), 0.82 and 0.89 in hypoplastic left heart syndromes (HLHSs), and 0.88 and 0.96 in multiple defects, respectively. NT was increased in all study groups except of VSD group. ROC AUC was 0.72 for VSD when combining prior risk with PAPP-A and fβ-hCG. Adding NT did not improve the detection rate. With normal NT but decreased (<0.5 MoM) PAPP-A and fβ-hCG odds ratios for VSD and HLHS were 19.5 and 25.6, respectively. Conclusions: Maternal serum biochemistry improves the detection of CHDs compared to NT measurement only. In cases with normal NT measurement but low concentrations of both PAPP-A and fβ-hCG, an alert for possible CHD, especially VSD, could be given with thorough examination of fetal heart in later ultrasound scans. [ABSTRACT FROM AUTHOR]

Objective: We aimed to compare the first trimester screening profiles of spontaneous (n=972) and in in vitro fertilization (IVF) pregnancies (n=339) in a population of patients who had uncomplicated singleton pregnancies comparable for maternal age, gestation, body mass index, and ethnicity. Material and Methods: A non-interventional analysis of retrospective cohort data and review of the literature. Results: All IVF pregnancies were achieved via intracytoplasmic sperm injection using the same ovarian stimulation protocol with recombinant follicle-stimulating hormone and a gonadotropin-releasing hormone antagonist, cetrorelix acetate. The means of the multiple of median (MoM) of pregnancy-associated plasma protein-A (PAPP-A) were slightly lower in the fresh (1.19±0.6 vs 1.33±0.7, respectively; p=0.056) and frozen embryo transfer (1.03±0.5 vs 1.33±0.7, respectively; p=0.036) IVF pregnancies compared with natural conceptions. However, when the medians of the MoMs of PAPP-A and beta-human chorionic gonadotrophin (β-hCG), and their distributions were compared across the mode of conception, there were no differences between IVF pregnancies spontaneous pregnancies. Furthermore, the scatterplot diagram and curve fitting regression analyses revealed no difference in the temporal relations of β-hCG and PAPP-A with each other and gestational age between spontaneous and IVF pregnancies. Conclusion: These results support the notion that uncomplicated singleton IVF pregnancies have similar first trimester screening profiles to spontaneous conceptions. [ABSTRACT FROM AUTHOR]

Objective  To determine if patients with a history of low pregnancy-associated plasma protein A (PAPP-A) in an initial pregnancy are at higher risk for adverse obstetric outcomes in a subsequent pregnancy. Study Design  This was a retrospective cohort study in patients who underwent first trimester screening for PAPP-A in two consecutive pregnancies. Two groups were examined: patients who had low PAPP-A in the first pregnancy followed by normal PAPP-A in the second pregnancy and patients who had recurrent low PAPP-A. Maternal and neonatal outcomes were compared between the groups, with the primary outcome being intrauterine growth restriction (IUGR) or preeclampsia. Results  A total of 124 patients were included, representing 248 pregnancies. Ninety-two (74.2%) patients had normal PAPP-A in the second pregnancy, and 32 (12.9%) patients had recurrent low PAPP-A. Patients with recurrent low PAPP-A had a higher rate of IUGR or preeclampsia compared with patients with normal PAPP-A in the second pregnancy but this was not significantly different (12.5 vs. 10.9%, p  = 0.51). There were no significant differences for all other outcomes. Conclusion  Among patients with a history of low PAPP-A, patients with normal PAPP-A in the subsequent pregnancy have a similar risk of adverse neonatal outcomes compared with patients with recurrent low PAPP-A. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the impacts of maternal risk factors described by the Fetal Medicine Foundation's 2012 algorithm (FMF2012) in a Brazilian population. Methods: All singleton pregnancies submitted to first-trimester preeclampsia (PE) screening using the FMF2012 algorithm were considered for study inclusion. Maternal factors, recorded via a patient questionnaire, were described and compared between PE outcome groups. A Gaussian regression model was derived to measure the effects of maternal factors, and to identify factors that contributed significantly (p < .05) to the alteration of gestational age at delivery, in pregnancies with PE. Results: Of the 1934 cases considered for study inclusion, the final sample consisted of 1531 cases. The sample included 120 (7.8%) cases of PE, of which 26 (1.7%) were preterm PE (PE < 37 weeks) and 11 (0.72%) were early PE (PE < 34 weeks). The PE rate did not differ according to ethnicity, smoking, family history of PE, or use of assisted reproductive technology. Significant differences (p < .05) between the normal and PE groups in maternal age, maternal weight, previous history of PE, chronic hypertension, and types 1 and 2 diabetes were detected. Conclusions: The significance and magnitude of associations of maternal factors in our sample differed from those incorporated in the FMF2012 model, implying the need to derive a fitted model for our population. [ABSTRACT FROM AUTHOR]

Pre‐eclampsia is a common condition that affects 2–5% of pregnancies and is associated with significant maternal and perinatal morbidity, and cost to the healthcare system. In those at high risk for pre‐eclampsia, interventions such as aspirin intake have been shown to reduce prevalence of disease. However, to implement these interventions, it is essential that high‐risk women be identified early in pregnancy. A combined first trimester screening model for pre‐eclampsia that includes maternal history, mean arterial pressure, uterine artery Doppler and PlGF has been shown to be the most effective at identifying the population at greatest risk of pre‐eclampsia. This article will explore the most appropriate methods of measuring the components of first trimester screening and discuss the use of aspirin for prevention of pre‐eclampsia in pregnancy. [ABSTRACT FROM AUTHOR]

Introduction. Screening for congenital heart defects (CHD) in the first trimester has been shown to be effective in low risk populations. However, it is usually not per formed routinely. Our aim was to assess the feasibility of the fetal heart assessment and screening for major CHD by routine first trimester scan. Materials and method. This was a retrospective two year study of 1423 uncomplicated pregnancies, examined during the first trimester screening for chromosomal and fetal structural abnormalities. To improve the fetal heart visualization on anatomic survey, we have performed the scans starting from 12 gestational weeks. The four chamber view (4CV) and three vessels and trachea view (3VTV) of fetal hearts were assessed by grayscale and color or directional power Doppler imaging. The final diagnosis of the suspected CHD was based on the second trimester and third trimester fetal and postnatal echocardiography or autopsy. Results and conclusions. The median crown rump length was 61.7 mm. The 4CV and the 3VTV were considered normal in 95% of cases (1352/1423), in 2% of cases (29/1423) unfeasible, and in 3% of cases (42/1423) abnormal. Overall, on the first trimester scan we identified 42 cases of CHD, and among them there were 33 (2.32%) confirmed major CHD, as fol lows: eight cases of double outlet right ventricle (DORV); eight atrioventricular septal defects (AVSD); five cases of pulmonary atresia; four cases of tetralogy of Fallot (TOF); four cases of hypoplastic left heart syndrome; two cases of pulmonary stenosis; two cases of mitral atresia and one mitral stenosis; one case of tricuspid atresia; one case of transposition of great arteries (TGA), one aortic hypoplasia, one case of critical stenosis of the aorta, and three cases of right atrial isomerism. Among the confirmed congenital heart defects, seven were complex cardiac anomalies. In four cases, the diagnosis was slightly modified later in gestation. In addition, 14 congenital heart defects were missed in the first trimester, as follows: four cases of aortic hypoplasia, two TOF, two TGA, two DORV, two cases of coarctation of the aorta, one pulmonary atresia and one right aortic arch. The assessment by the 4CV and the 3VTV for major congenital heart defects had a sensitivity and specificity of 70.2% and 99.3%, respectively, with a positive and negative predictive value of 78.5% and 98.9%, respectively. Among 33 fetuses with CHD, seven fetuses (20.6%) had other structural abnormalities. In 15 fetuses (44.11%), the NT was above the 95th centile. Eleven fetuses (32.35%) showed reversed flow in ductus venosus and/or tricuspid regurgitation. First trimester cardiac screening and the detection of major congenital heart defects are feasible during the routine first trimester scan. However, the early detailed assessment of the fetal heart requires expertise in fetal echocardiography and complementary scans in both the second and the third trimester, since there are many defects that evolve over time which are best assessed later in gestation. [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]

Objective: To determine intersonographer, intersampling site pulsatility index differences in the ascending branch of the uterine artery (UtA-PI) and their effect on detection rates (DR) for early onset preeclampsia (PE).Methods: A prospective observational study was conducted including 52 women with singleton viable pregnancy at 11-13 weeks' gestation. Consecutive bilateral UtA-PI measurements were performed by two sonographers. Both sonographers hold the Fetal Medicine Foundation (FMF) uterine artery Doppler assessment competency certificates. Sonographer "A" underwent mentorship-based specialist training at the FMF; whilst sonographer "B" is a fetal maternal specialist who was deemed competent to measure UtA-PI based on completion of the FMF online course. Both sonographers were unaware of each other's UtA-PI and peak systolic velocity (PSV) measurements throughout the study. UtA-PI was measured by sonographer "A" at 1, 2 and 3 cm distally from the internal os. UtA-PI minimum ("Low-PI") and mean ("Mean-PI") were determined. Intraclass correlation (ICC), Bland-Altman analysis and Wilcoxon signed rank test were performed to determine bias, 95% limits of agreement (LOA) for intersonographer and intersampling site differences. Simulation studies were performed to determine the effect on early onset PE screening DR.Results: (1) Intersite assessment indicated that UtA-PI and PSV decreased by 7-8% per centimeter relative to the measurement taken at the internal os; (2) Sonographer "B" UtA-PI measurements were significantly lower than those of sonographer "A" for "Low-PI" (p = .001), "Mean-PI" (p = .002) and PSV (p = .004) determined by Wilcoxon signed rank test. The mean reduction in "Low-PI", "Mean-PI" and PSV of sonographer "B" relative to sonographer "A" were 14.04%, 11.09% and 10.99%, respectively; (3) Measurements taken by sonographer "B" at the level of the internal os were comparable to measurements taken by sonographer "A" at 2 cm distal to the internal os (low-PI: p = .98, Mean-PI: p = .49 and PSV: p = .24); (4) Between sonographer ICC for UtA-PI was asymmetrical strong (left ICC = 0.72, 95%CI: 0.51-0.84) to fair (right ICC = 0.38, 95%CI: -0.08-0.64); and (5) The 14% mean intersonographer difference in lowest UtA-PI would have resulted in an 7% difference in PE screening performance.Conclusions: The measurement of UtA-PI is sampling site dependent with the potential for significant intersonographer differences despite the availability of a prescriptive measurement protocol. This is an important observation as it implies that sonographer "B" inadvertently measured the UtA-PI at a distal site, not at the level of internal os, compared to those measured by sonographer "A", resulting in a lower DR for early onset PE. [ABSTRACT FROM AUTHOR]

Objective: To investigate the performance of first trimester Down syndrome (DS) screening markers in Iranian pregnancies.Although sonographic and serum markers are currently recommended for the first trimester screening of Down syndrome, the screening performance of the markers depends on the race and ethnicity. Materials and methods: A retrospective case-control study using first trimester screening results recorded with the prenatal diagnostic multi-centers in Iran. A total of 6,384 pregnant women were examined from March 2012 to February 2017. Totally 100 Down syndrome cases and 266 matched controls were selected and the maternal characteristics, sonographic and biochemical screening data were collected. Statistical analysis was performed using logistic regression and descriptive statistics. A decision tree model was designed using the chi-squared automatic interaction detection method based on serum markers. Results: For screening of DS pregnancies, PAPP-A (cut-off 0.795 MoM) yielded the highest sensitivity (86%) and NB marker presented highest specificity (96.24%). combination of the biochemical markers PAPP-A and β-hCG (cut-off: 1.55 MoM) showed the highest sensitivity over other combined markers. The decision-tree model based on serum markers improved (91% DR For a 5% FPR) first trimester screening performance. Conclusion: The novel decision-tree model base on serum markers revealed a better predictive value to achieve high sensitivity and specificity of first trimester Down syndrome screening in Iranian population. [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]

Abstract: The benefit of the early administration of aspirin to reduce preterm pre‐eclampsia among screened positive European women from multivariate algorithmic approach (ASPRE trial) has opened an intense debate on the feasibility of universal screening. This review aims to assess the new perspectives in the combined screening of pre‐eclampsia in the first trimester of pregnancy and the chances for prevention using low‐dose aspirin with special emphasis on the particularities of the Asian population. PubMed, CENTRAL and Embase databases were searched from inception until 15 November 2017 using combinations of the search terms: preeclampsia, Asian, prenatal screening, early prediction, ultrasonography, pregnancy, biomarker, mean arterial pressure, soluble fms‐like tyrosine kinase‐1, placental growth factor, pregnancy‐associated plasma protein‐A and pulsatility index. This is not a systematic review or meta‐analysis, so the risk of bias of the selected published articles and heterogeneity among the studies need to be considered. The prevalence of pre‐eclampsia and serum levels of biochemical markers in Asian are different from Caucasian women; hence, Asian ethnicity needs to be corrected for in the algorithmic assessment of multiple variables to improve the screening performance. Aspirin prophylaxis may still be viable in Asian women, but resource implication needs to be considered. Asian ethnicity should be taken into account before implementing pre‐eclampsia screening strategies in the region. The variables included can be mixed and matched to achieve an optimal performance that is appropriate for economical restriction in individual countries. [ABSTRACT FROM AUTHOR]

Introduction: The aim of this study was to investigate the attitude (view, likely uptake and preferred strategy) towards cell-free fetal DNA (cfDNA) testing among pregnant women before a first-trimester risk assessment for trisomy 21 (unselected women) and after obtaining a high risk.Material and Methods: Unselected and high-risk women attending first-trimester screening (Rigshospitalet, Copenhagen University Hospital) were invited to fill out the questionnaire Antenatal testing for Down syndrome as an online survey.Results: The survey included 203 unselected and 50 high-risk women (response rates of 74.8% and 84.7%, respectively). Nearly all considered cfDNA testing a positive development in antenatal care, and 97.2% would like it to be offered. Offering cfDNA testing as an alternative to invasive testing would increase the uptake of follow-up testing compared with invasive testing alone (98.8% vs. 90.7%, p < 0.001). Women who would only accept follow up by cfDNA testing were more likely to continue an affected pregnancy (30.0% vs. 3.6%, p < 0.001) or have doubts about termination (50.0% vs. 32.1%, p < 0.001).Conclusions: Offering cfDNA testing would likely increase the uptake of follow-up testing without a corresponding rise in the termination rate of affected fetuses as some women test for information only. However, both unselected and high-risk women had overwhelmingly positive views underlining attention to avoid routinization. [ABSTRACT FROM AUTHOR]

Prenatal screening for aneuploidies is done using maternal serum and sonographic markers. Although many screening tests are available, their correct application still does not have uniformity. This review will give insight into the existing screening protocols, their merits and demerits, interpretation of results and the relevance of these tests in low resource settings. Cell free fetal DNA and its exciting role in non invasive prenatal testing along with its advantages and drawbacks is also taken up. We have further considered the role of counseling and its importance before embarking on the screening tests. The upcoming role of maternal serum markers for prediction of adverse obstetrical outcomes is also discussed. [ABSTRACT FROM AUTHOR]

Objective: To assess the potential of screening for pre-eclampsia (PE) in a Chinese population.Design: Case-control study.Setting: Teaching hospital in Hong Kong.Population: A total of 3330 women having a viable singleton pregnancy attending first-trimester Down-syndrome screening.Methods: Mean arterial pressure (MAP), bilateral uterine artery pulsatility index (UtA-PI), and placental growth factor (PlGF) were measured. Screening markers were transformed to multiples of the gestational median (MoM) and adjusted for maternal and pregnancy characteristics. MoM distributions in PE and non-PE pregnancies were compared with published expected values. PE screening performance was assessed using area under receiver operating curves (AUROC).Main Outcome Measures: PE detection rate.Results: A total of 30 (0.9%) women developed either early (<34 weeks) or late (≥34 weeks) onset PE. MAP was dependent on maternal BMI, UtA-PI on fetal crown rump length, uterine artery peak systolic velocity (UtA-PSV) on maternal age and gestation, and PlGF on gestation in non-PE pregnancies. MoM distributions determined using published Fetal Medicine Foundation models deviated significantly from one for both MAP (P < 0.0001) and PI (P < 0.0001), but not PlGF (P = 0.52) in non-PE pregnancies, whilst PlGF MoM distributions in those who developed early as opposed to late onset PE were significantly higher (P = <0.05). AUROC for any PE using multiple markers was 0.72 (95% CI: 0.64-0.81) with detection rates of 72 and 55% for early and late PE, respectively, for a 10% false positive rate.Conclusion: Detection rates for PE in our Chinese population were lower than the expected 90-95% even after adjusting MoM for local women's characteristics.Funding: General Research Fund (Project number 470513).Tweetable Abstract: Pre-eclampsia screening in the Chinese population had detection rates lower than previously published results. [ABSTRACT FROM AUTHOR]

The objective of this study was to test three measurements: brain stem (BS), intracranial translucency (IT) and brain stem to occipital bone distance (BSOB), as well as one landmark: cisterna magna (CM) visibility, for early diagnosis of open spina bifida (OSB) in a low risk population. A prospective observational study was undertaken in a university hospital. A sample of 1479 women consented to participate between 20 September 2013 and 30 June 2015. Measurements were performed from the mid-sagittal view, as is routinely used for nuchal thickness assessment. CM visibility was assessed qualitatively as the third anechoic band in the posterior cranial fossa (PCF). All pregnancies were screened with a combination of maternal serum alpha-fetoprotein and second trimester anomaly scan and followed until delivery. Predictive values were calculated for each marker. We were able to diagnose two OSB cases and highly suspect one Dandy-Walker malformation case at the first trimester scan by the observation of PCF. PCF characteristics of OSB cases were increased BS diameter, increased BS-BSOB ratio and non-visualization of the CM. All the markers demonstrated high sensitivity and specificity but CM visibility reached the highest positive predictive value. Due to relatively high false positive rates, PCF measurements could not reach a satisfactory performance to validate their clinical use as a single marker. CM visibility has the advantage of being a qualitative marker and reduces the need for sophisticated and time-consuming measurements. Intracranial translucency and BS-BSOB ratio measurements should be used when the CM visibility is absent or in doubt. [ABSTRACT FROM AUTHOR]

Purpose: First trimester risk assessment for chromosomal abnormalities plays a major role in the contemporary pregnancy care. It has evolved significantly since its introduction in the 1990s, when it essentially consisted of just the nuchal translucency measurement. Today, it involves the measurement of several biophysical and biochemical markers and it is often combined with a cell-free DNA (cfDNA) analysis as a secondary test.Methods: A search of the Medline and Embase databases was done looking for articles about first trimester aneuploidy screening. We performed a detailed review of the literature to evaluate the screening tests currently available and their respective test performance.Results: Combined screening for trisomy 21 based on maternal age, fetal NT, and the serum markers free beta-hCG and PAPP-A results in a detection rate of about 90% for a false positive of 3-5%. With the addition of further ultrasound markers, the false positive rate can be roughly halved. Screening based on cfDNA identifies about 99% of the affected fetuses for a false positive rate of 0.1%. However, there is a test failure rate of about 2%. The ideal combination between combined and cfDNA screening is still under discussion. Currently, a contingent screening policy seems most favorable where combined screening is offered for everyone and cfDNA analysis only for those with a borderline risk result after combined screening.Conclusion: Significant advances in screening for trisomy 21 have been made over the past 2 decades. Contemporary screening policies can detect for more than 95% of affected fetuses for false positive rate of less than 3%. [ABSTRACT FROM AUTHOR]

Purpose: First trimester risk assessment plays a major role in the contemporary pregnancy care. It has evolved significantly since its introduction in the 1990s when it essentially consisted of just the nuchal translucency measurement. Today, it involves the measurement of several biophysical and biochemical markers and can assess the risk for a wide array of major chromosomal and non-chromosomal defects as well as other pregnancy-related complications.Methods: A search of the Medline and Embase databases was done looking for articles about first trimester screening. We performed a detailed review of the literature to evaluate the screening tests currently available and their respective test performance.Results: The detailed ultrasound examination results in the detection of about half of major structural defects, determination of a very accurate gestational age, and identification of multiple pregnancies as well as their chorionicity. In addition, risk assessment for preeclampsia and early IUGR can be established at this stage. In case of an increased risk, the daily use of low-dose aspirin can be offered at a point in pregnancy when it still can have a positive impact. Additional screening tests for gestational diabetes and macrosomia are available.Conclusion: Contemporary first trimester screening is essential to establish an individual risk profile and can be used to tailor the pregnancy care. [ABSTRACT FROM AUTHOR]

Objective: To assess the adverse outcome in pregnancies with raised Nuchal translucency measurement.Methods: This retrospective study was conducted at the Aga Khan University Hospital, Karachi, Pakistan between January 2001 and December 2015. Women attending the Fetal Medicine unit for first trimester screening by Nuchal translucency were included in the study. All pregnancies were followed up till delivery. Those with incomplete information about the delivery were excluded from the analysis. Pregnancy outcome was observed in normal Nuchal translucency measurements and in raised Nuchal translucency measurements.Results: Out of the 1941 fetuses, there were 54 (2.8%) with raised Nuchal translucency measurement. Adverse pregnancy outcome was found in 32 (59.3%) of fetuses with raised Nuchal translucency measurement. Invasive testing was done in 15 (27.8%) of pregnancies with raised Nuchal translucency measurement. Among them there were nine (16.7%) cases with abnormal karyotype. It included six (11.1%) cases of trisomy 21, three (5.6%) cases of trisomy 13 and 18.Conclusion: Raised Nuchal translucency measurement is associated with adverse pregnancy outcome. One in three fetuses are affected by it. Live birth in this group where there is no aneuploidy is around 3.7%. [ABSTRACT FROM AUTHOR]

Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and noninvasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009-2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy. The introduction of microarray led to an additional yield of submicroscopic pathogenic chromosome aberrations: 3.6% in fetuses with ultrasound anomalies and 1.9% in fetuses without ultrasound anomalies. The introduction of NIPT led to a decrease of invasive tests and of diagnostic yield. Moreover, a diagnostic delay in about 1:350 cases was observed. Since 20%-33% of pathogenic fetal chromosome aberrations are different from the common aneuploidies and triploidy, whole-genome analysis should be offered after invasive sampling. Because NIPT (as a second screening) has led to a decreased diagnostic yield, it should be accompanied by an appropriate pretest counseling. [ABSTRACT FROM AUTHOR]

Purpose: Maternal age is a crucial factor in fetal aneuploidy screening, resulting in an increased rate of false-positive cases in older women and false-negative cases in younger women. The absolute risk (AR) is the simplest way to eliminate the background maternal age risk, as it represents the amount of improvement of the combined risk from the maternal background risk. The aim of this work is to assess the performance of the AR in the combined first-trimester screening for aneuploidies.Materials and Methods: A retrospective validation of the AR in the combined first-trimester screening for fetal aneuploidies, in an unselected population at Altamedica Fetal-Maternal Medical Center in Rome, between March 2007 and December 2008.Results: Of 3845 women included in the study, we had a complete follow-up on 2984. We evaluated that an AR < 3 would individuate 22 of 23 cases of aneuploidy with a detection rate of 95.7% (95%CI 87.3-100), a false-positive rate of 8.7% (95%CI 7.7-9.7) and a false-negative rate of 4.3% (95%CI 0-12.7).Conclusions: In our study, the AR ameliorates the detection rate for aneuploidy. Further research and a prospective study on a larger population would help us to improve the AR in detecting most cases of aneuploidy. [ABSTRACT FROM AUTHOR]