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This article discusses a study that explores the potential benefits of using sonographic tomography (ST) compared to conventional two-dimensional ultrasound (2D) for first trimester anomaly screening (FTAS) in pregnancy. The study developed an early-stage health economic model and simulated the outcomes for a theoretical cohort of 180,000 people. The results showed that ST could be a more cost-effective option, saving €90,000,000 annually in the Netherlands. However, further research is needed to estimate the consequences more precisely and determine the optimal test characteristics for ST. [Extracted from the article]

Objectives: To identify antenatal ultrasound markers that can differentiate between simple and complex gastroschisis and assess their predictive value.Methods: This was a prospective nationwide study of pregnancies with isolated fetal gastroschisis that underwent serial longitudinal ultrasound examination at regular specified intervals between 20 and 37 weeks' gestation. The primary outcome was simple or complex (i.e. involving bowel atresia, volvulus, perforation or necrosis) gastroschisis at birth. Fetal biometry (abdominal circumference and estimated fetal weight), the occurrence of polyhydramnios, intra- and extra-abdominal bowel diameters and the pulsatility index (PI) of the superior mesenteric artery (SMA) were assessed. Linear mixed modeling was used to compare the individual trajectories of cases with simple and those with complex gastroschisis, and logistic regression analysis was used to estimate the strength of association between the ultrasound parameters and outcome.Results: Of 104 pregnancies with isolated fetal gastroschisis included, four ended in intrauterine death. Eighty-one (81%) liveborn infants with simple and 19 (19%) with complex gastroschisis were included in the analysis. We found no relationship between fetal biometric variables and complex gastroschisis. The SMA-PI was significantly lower in fetuses with gastroschisis than in healthy controls, but did not differentiate between simple and complex gastroschisis. Both intra- and extra-abdominal bowel diameters were larger in cases with complex, compared to those with simple, gastroschisis (P < 0.001 and P < 0.005, respectively). The presence of intra-abdominal bowel diameter ≥ 97.7th percentile on at least three occasions, not necessarily on successive examinations, was associated with an increased risk of the fetus having complex gastroschisis (relative risk, 1.56 (95% CI, 1.02-2.10); P = 0.006; positive predictive value, 50.0%; negative predictive value, 81.4%).Conclusions: This large prospective longitudinal study found that intra-abdominal bowel dilatation when present repeatedly during fetal development can differentiate between simple and complex gastroschisis; however, the positive predictive value is low, and therefore the clinical usefulness of this marker is limited. © 2019 Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objective: To assess the diagnostic accuracy of amniotic fluid Delta OD 450 values in the second and third trimesters of D-alloimmunized pregnancies.Methods: We searched our database for singleton D-alloimmunized pregnancies with nonhydropic fetuses, where amniocentesis was performed within 4 days of first fetal blood sampling. Amniotic fluid Delta OD 450 values were plotted on an extrapolated Liley's chart. Sensitivity and specificity were calculated for two commonly used cutoff levels, Liley's zone 3 and the upper third of Liley's zone 2. Severe fetal anemia was defined as a hemoglobin concentration of more than 5 standard deviations below the normal mean for corresponding gestational age.Results: Seventy-nine pregnancies met our inclusion criteria. Overall accuracy of the extrapolated Liley's curve in predicting severe fetal anemia was 75% (95% confidence interval [CI] 64, 84) for zone 3 and 86% (95% CI 77, 93) when the upper third of zone 2 was included. Sensitivity of Delta OD 450 values in Liley's zone 3 or the upper third of Liley's zone 2 was 95% (95% CI 74, 100) before and 98% (95% CI 89, 100) after 27 weeks.Conclusion: Liley's extrapolated curve predicts severe fetal anemia with reasonable accuracy and high sensitivity. [ABSTRACT FROM AUTHOR]

Objectives: Previous research has suggested that hemodynamic changes after in utero transfusion may be related to fetal stress. We tested the hypothesis that these hemodynamic changes are more pronounced when the needle is inserted in the fetal abdomen compared with the umbilical cord root. Methods: Most intrauterine transfusions are performed by inserting a needle either in the umbilical cord root at the placental surface (PCI) or in the intrahepatic portion of the umbilical vein (IHV). We analyzed prospectively collected data of all intrauterine blood transfusions (IUT) for fetal alloimmune anemia (from 2000 to 2003), for which complete data were available on needling site and middle cerebral artery (MCA) Doppler flow velocity measurements before and immediately after the procedure. Results: Data of 57 IUTs were included. In 32 patients, the transfusion was performed through the PCI and in 25 patients through the IHV. Mean pulsatility index (PI) in the PCI group was 2.0 before and 1.7 after IUT (p = 0.011), and in the IHV group 1.9 before and 1.5 after IUT (p = 0.001). In both groups, MCA PI decreased significantly, but there was no difference in decrease between the two groups (p = 0.99). Conclusions: In anemic fetuses undergoing transfusion, the observed fetal brain hemodynamic changes were independent of the site of needle insertion. The decrease in fetal MCA PI is therefore likely to be caused by the volume expansion. Copyright © 2009 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background: A significant proportion of major fetal structural anomalies can be detected in the first trimester by ultrasound examination. However, the test performance of the first-trimester anomaly scan performed in a low-risk population as part of a nationwide prenatal screening program is unknown. Potential benefits of the first-trimester anomaly scan include early detection of fetal anomalies, providing parents with more time for reproductive decision-making., Objective: To investigate the uptake, test performance, and time to a final prenatal diagnosis after referral., Study Design: A nationwide implementation study was conducted in the Netherlands (November 2021-November 2022). The FTAS was performed between 12+3 and 14+3 weeks of gestation by certified sonographers using a standard protocol. Women were referred to a tertiary care center if anomalies were suspected. Uptake, test performance, and time to a final prenatal diagnosis (days between referral and date of final diagnosis/prognosis for reproductive decision-making) were determined. Test performance was calculated for first-trimester major congenital anomalies, such as anencephaly and holoprosencephaly and all diagnosed anomalies <24 weeks of gestation., Results: The first-trimester anomaly scan uptake was 74.9% (129,704/173,129). In 1.0% (1313/129,704), an anomaly was suspected, of which 54.9% (n=721) had abnormal findings on the detailed first-trimester diagnostic scan and 44.6% (n=586) showed normal results. In 0.5% (n=6), intrauterine fetal death occurred. In the total group of 721 cases with abnormal findings, 332 structural anomalies, 117 genetic anomalies, 82 other findings (abnormal fetal biometry, sonomarkers, placental/umbilical cord anomaly, an-/oligohydramnios), and 189 cases with transient findings (defined as ultrasound findings which resolved <24 weeks of gestation) were found, with 1 case having an unknown outcome. 0.9% (n=1164) of all cases with a normal first-trimester anomaly scan were diagnosed with a fetal anomaly in the second trimester. Test performance included a sensitivity of 84.6% (126/149) for first-trimester major congenital anomalies and 31.6% (537/1701) for all types of anomalies. Specificity for all anomalies was 99.2% (98,055/98,830); positive predictive value 40.9% (537/1312); negative predictive value 98.8% (98,055/99,219); positive likelihood ratio 40.3; negative likelihood ratio 0.7; false positive rate 0.8% (775/98,830), and false negative rate 68.4% (1164/1701). The median time to diagnosis for structural anomalies was 20 days (6-43 days; median gestational age 16+3), for genetic anomalies 17 days (8.5-27.5 days; median gestational age 15+6 weeks), and for first-trimester major congenital anomalies 9 days (5-22 days; median gestational age 14+6 weeks)., Conclusion: The performance of a newly introduced nationwide first-trimester anomaly scan in a low-risk population showed a high sensitivity for first-trimester major congenital anomalies and a lower sensitivity for all anomalies combined. The program was accompanied by a referral rate of 1.0%, of which 59.1% involved cases where anomalies were either not confirmed or resolved before 24 weeks gestation. Timing of diagnosis was around 16 weeks of gestation for referred cases. To evaluate the balance between benefits and potential harm of the first-trimester anomaly scan within a nationwide prenatal screening program, it is essential to assess the effectiveness of the program over time and to consider the perspectives of both women and their partners, as well as healthcare professionals., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Introduction: Preterm prelabor rupture of membranes (PPROM) remains a major complication of fetal laser surgery in the treatment of twin-to-twin transfusion syndrome (TTTS). The aim of the study was to determine the impact of cannula size on pregnancy outcomes, with a particular focus on PPROM., Material and Methods: The protocol was developed and registered in the PROSPERO database under registration number CRD42022333630. The PubMed, Web of Science, and EMBASE databases were searched electronically on May 18, 2022, and updated on March 2, 2023, utilizing a combination of the relevant MeSH terms, keywords, and word variants for "TTTS" and "laser". Randomized controlled trials, prospective and retrospective cohorts, case-control studies, and case reports/series with more than five participants were considered eligible for inclusion. Studies reporting the cannula diameter and PPROM rate after laser surgery in the treatment of monochorionic pregnancies affected by TTTS between 16- and 26 weeks' gestation were included. Data was extracted independently, and when appropriate, a random-effects meta-analysis was undertaken to calculate pooled estimates and their confidence intervals. Heterogeneity in the effect estimates of the individual studies was calculated using the I 2 statistic. The primary outcome was PPROM rate. Secondary outcomes were survival rate, preterm birth, and incomplete surgery. The quality of the included studies was assessed using a modified quality in prognosis study tool., Results: We included a total of 22 studies, consisting of 3426 patients. Only one study was scored as low quality, seven as moderate quality, and the remaining 14 as high quality. The mean PPROM rate after laser surgery treating TTTS was 22.9%, ranging from 11.6% for 9 French (Fr) to 54.0% for 12 Fr. Subsequent meta-regression for the clinically relevant PPROM rate before 34 weeks of gestation, showed increased PPROM rates for increased cannula size (p-value 0.01)., Conclusions: This systematic review confirmed PPROM as a frequent complication of fetal laser surgery, with a mean PPROM rate of 22.9%. A larger cannula diameter relates to a significant higher PPROM risk for PPROM before 34 weeks gestation. Hence, the ideal balance between optimal visualization requiring larger port diameters and shorter operation time and more complete procedures that benefit from larger diameters is crucial to reduce iatrogenic PPROM rates., (© 2024 The Authors. Acta Obstetricia et Gynecologica Scandinavica published by John Wiley & Sons Ltd on behalf of Nordic Federation of Societies of Obstetrics and Gynecology (NFOG).)

Computer-assisted technologies have made significant progress in fetoscopic laser surgery, including placental vessel segmentation. However, the intra- and inter-procedure variabilities in the state-of-the-art segmentation methods remain a significant hurdle. To address this, we investigated the use of conditional generative adversarial networks (cGANs) for fetoscopic image segmentation and compared their performance with the benchmark U-Net technique for placental vessel segmentation. Two deep-learning models, U-Net and pix2pix (a popular cGAN model), were trained and evaluated using a publicly available dataset and an internal validation set. The overall results showed that the pix2pix model outperformed the U-Net model, with a Dice score of 0.80 [0.70; 0.86] versus 0.75 [0.0.60; 0.84] ( p -value < 0.01) and an Intersection over Union (IoU) score of 0.70 [0.61; 0.77] compared to 0.66 [0.53; 0.75] ( p -value < 0.01), respectively. The internal validation dataset further validated the superiority of the pix2pix model, achieving Dice and IoU scores of 0.68 [0.53; 0.79] and 0.59 [0.49; 0.69] ( p -value < 0.01), respectively, while the U-Net model obtained scores of 0.53 [0.49; 0.64] and 0.49 [0.17; 0.56], respectively. This study successfully compared U-Net and pix2pix models for placental vessel segmentation in fetoscopic images, demonstrating improved results with the cGAN-based approach. However, the challenge of achieving generalizability still needs to be addressed.

Objectives: To describe the outcomes of preterm born infants with congenital diaphragmatic hernia (CDH; ≤32.0 weeks of gestation) and the associations between prenatal imaging markers and survival., Design: Retrospective cohort study., Setting: Multicentre study in large referral centres., Population: Infants with an isolated unilateral CDH, live born at 32.0 weeks or less of gestation, between January 2009 and January 2020., Methods: Neonatal outcomes were evaluated for infants that were expectantly managed during pregnancy and infants that underwent fetoscopic endoluminal tracheal occlusion (FETO) therapy, separately. We evaluated the association between prenatal imaging markers and survival to discharge. Prenatal imaging markers included observed to expected lung-to-head ratio (o/e LHR), side of the defect, liver position, stomach position grade, and observed to expected total fetal lung volume (o/e TFLV)., Main Outcome Measure: Survival to discharge., Results: We included 53 infants born at 30 +4 (interquartile range 29 +1 -31 +2 ) weeks. Survival in fetuses expectantly managed during pregnancy was 48% (13/27) in left-sided CDH and 33% (2/6) in right-sided CDH. Survival in fetuses that underwent FETO therapy was 50% (6/12) in left-sided CDH and 25% (2/8) in right-sided CDH. The o/e LHR at baseline was positively associated with survival in cases expectantly managed during pregnancy (odds ratio [OR] 1.20, 95% CI 1.07-1.42, p < 0.01), but not in cases that received FETO therapy (OR 1.01, 95% CI 0.88-1.15, p = 0.87). Stomach position grade (p = 0.03) and o/e TFLV were associated with survival (p = 0.02); liver position was not (p = 0.13)., Conclusions: In infants with CDH born at or before 32 weeks of gestation, prenatal imaging markers of disease severity were associated with postnatal survival., (© 2023 The Authors. BJOG: An International Journal of Obstetrics and Gynaecology published by John Wiley & Sons Ltd.)

Background: Since 2007 all pregnant women in the Netherlands are offered the second-trimester anomaly scan (SAS) in a nationwide prenatal screening program. This study aims to assess the level of informed choice of women opting for the SAS and to evaluate the presence of routinization 16 years after its implementation. It further explores decisional conflict and women's decision making., Methods: This prospective national survey study consisted of an online questionnaire which was completed after prenatal counseling and before undergoing the SAS. Informed choice was measured by the adapted multidimensional measure of informed choice (MMIC) and was defined in case women were classified as value-consistent, if their decision for the SAS was deliberated and made with sufficient knowledge., Results: A total of 894/1167 (76.6%) women completed the questionnaire. Overall, 54.8% made an informed choice, 89.6% had good knowledge, 59.8% had deliberated their choice and 92.7% held a positive attitude towards the SAS. Women with low educational attainment (p=0.004) or respondents of non-Western descent (p=0.038) were less likely to make an informed choice. Decisional conflict was low, with a significantly lower decisional conflict score in women that made an informed choice (p<0.001). Most respondents (97.9%) did not perceive pressure to undergo the SAS., Conclusions: Our study showed a relatively low rate of informed choice for the SAS, due to absence of deliberation. Therefore, some routinization seem to be present in the Netherlands. However, most women had sufficient knowledge, did not perceive pressure and experienced low decisional conflict., (© 2023. BioMed Central Ltd., part of Springer Nature.)

Objectives: Congenital diaphragmatic hernia (CDH) is a congenital malformation in which the diaphragm and lungs are underdeveloped, leading to cardiorespiratory and other problems. This study aimed to explore professionals' views regarding prenatal counselling in CDH., Methods: A qualitative study was performed among healthcare professionals involved in the care of CDH patients in Radboud university medical center Amalia Children's Hospital. Semi-structured interviews were conducted until saturation was achieved. Transcripts were qualitatively analysed to gain insight into professionals' views regarding counselling., Results: Eighteen professionals with various backgrounds were included. The professionals agreed that the first counselling session should be soon after diagnosis and additional sessions should be offered. Concerning counselling content, participants considered explanation of the diagnosis, prognosis, short- and long-term consequences, treatment options and practical aspects important. As for decision-making about possible termination of pregnancy, all professionals emphasised the importance of the parental role, but the preferred parental involvement varied. Regarding practical aspects, preferred counsellors were a neonatologist, obstetrician, paediatric surgeon and/or medical social worker. Participants emphasised that the counselling should be adjusted to parents' needs., Conclusions: This study gained insight into professionals' views regarding the timeline, content, decision-making process, and practical aspects of prenatal counselling in CDH., (© 2023 the author(s), published by De Gruyter, Berlin/Boston.)

Objectives: First-trimester ultrasound screening is increasingly performed to detect fetal anomalies early in pregnancy, aiming to enhance reproductive autonomy for future parents. This study aims to display the current practice of first-trimester ultrasound screening in developed countries., Method: An online survey among 47 prenatal screening experts in developed countries., Results: First-trimester structural anomaly screening is available in 30 of the 33 countries and is mostly offered to all women with generally high uptakes. National protocols are available in 23/30 (76.7%) countries, but the extent of anatomy assessment varies. Monitoring of scan quality occurs in 43.3% of the countries. 23/43 (53.5%) of the respondents considered the quality of first-trimester ultrasound screening unequal in different regions of their country., Conclusions: First-trimester screening for structural fetal anomalies is widely offered in developed countries, but large differences are reported in availability and use of screening protocols, the extent of anatomy assessment, training and experience of sonographers and quality monitoring systems. Consequently, this results in an unequal offer to parents in developed countries, sometimes even within the same country. Furthermore, as offer and execution differ widely, this has to be taken into account when results of screening policies are scientifically published or compared., (© 2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)

Objective: We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exome Sequencing (WES) data for prenatal diagnosis of fetuses with ultrasound (US) anomalies and a non-causative QF-PCR result., Methods: After invasive diagnostics, whole exome parent-offspring trio-sequencing with exome-wide CNV analysis was performed in pregnancies with fetal US anomalies and a non-causative QF-PCR result (WES-CNV). On request, additional SNV-analysis, restricted to (the) requested gene panel(s) only (with the option of whole exome SNV-analysis afterward) was performed simultaneously (WES-CNV/SNV) or as rapid SNV-re-analysis, following a normal CNV analysis., Results: In total, 415 prenatal samples were included. Following a non-causative QF-PCR result, WES-CNV analysis was initially requested for 74.3% of the chorionic villus (CV) samples and 45% of the amniotic fluid (AF) samples. In case WES-CNV analysis did not reveal a causative aberration, SNV-re-analysis was requested in 41.7% of the CV samples and 17.5% of the AF samples. All initial analyses could be finished within 2 weeks after sampling. For SNV-re-analysis during pregnancy, turn-around-times (TATs) varied between one and 8 days., Conclusion: We show a highly efficient all-in-one WES-based strategy, with short TATs, and the option of rapid SNV-re-analysis after a normal CNV result., (© 2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)

Fetal laser surgery has emerged as the preferred treatment of twin-to-twin transfusion syndrome (TTTS). However, the limited field of view of the fetoscope and the complexity of the procedure make the treatment challenging. Therefore, preoperative planning and intraoperative guidance solutions have been proposed to cope with these challenges. This review uncovers the literature on computer-assisted software solutions focused on TTTS. These solutions are classified by the pre- or intraoperative phase of the procedure and further categorized by discussed hardware and software approaches. In addition, it evaluates the current maturity of technologies by the technology readiness level and enumerates the necessary aspects to bring these new technologies to clinical practice., (© 2022 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)

Background: Twin reversed arterial perfusion sequence is a rare complication of monochorionic multifetal pregnancies. In this syndrome, the acardiac twin has a nonfunctional heart, while the other twin, the pump twin, has normal development. The pump twin perfuses the acardiac twin and is therefore at risk for cardiac decompensation. In monoamniotic cases, the normal co-twin is also at risk of sudden death due to cord entanglement. Treatment consists of coagulation and transection of the acardiac's umbilical cord. We report the first intrauterine use in pregnancy of a Ho:yttrium aluminum garnet laser to safely and successfully transect the umbilical cord after Nd:yttrium aluminum garnet coagulation., Case Presentation: A 30-year-old Caucasian woman was referred to our fetal-maternal medicine unit at 9 weeks gestation with a monochorionic-monoamniotic twin pregnancy complicated by an acardiac twin. After counseling, she opted for an elective intervention to minimize the risks to the pump twin. At 16 weeks, fetoscopy was performed using a single 2-mm entry port. Through this port, a 1.0-mm fetoscope and a 0.365-mm laser fiber were introduced. Under fetoscopic sight and ultrasound (Doppler) guidance, the umbilical cord of the acardiac twin was first coagulated by laser energy using a Nd:yttrium aluminum garnet laser and then, using the same fiber, transected using a Ho:yttrium aluminum garnet laser. The patient underwent cesarean section at 38 weeks and delivered a healthy baby., Conclusions: We present the first report on intrauterine use of an Ho:yttrium aluminum garnet laser in human pregnancy. Ho:yttrium aluminum garnet laser energy can be successfully and safely used for umbilical cord transection and carries fewer risks than other methods of transection., (© 2022. The Author(s).)