Antenatal screening for fetal structural anomalies - Routine or targeted practice?

Antenatal screening with ultrasound identifies fetal structural anomalies in 3-6% of pregnancies. Identification of anomalies during pregnancy provides an opportunity for counselling, targeted imaging, genetic testing, fetal intervention and delivery planning. Ultrasound is the primary modality for imaging the fetus in pregnancy, but magnetic resonance imaging (MRI) is evolving as an adjunctive tool providing additional structural and functional information. Screening should start from the first trimester when more than 50% of severe defects can be detected. The mid-trimester ultrasound balances the benefits of increased fetal growth and development to improve detection rates, whilst still providing timely management options. A routine third trimester ultrasound may detect acquired anomalies or those missed earlier in pregnancy but may not be available in all settings. Targeted imaging by fetal medicine experts improves detection in high-risk pregnancies or when an anomaly has been detected, allowing accurate phenotyping, access to advanced genetic testing and expert counselling.

A systematic review to assess the utility of genomic autopsy using exome or genome sequencing in cases of congenital anomalies and perinatal death.

PURPOSE: Exome or genome sequencing (ES or GS) can identify genetic causes of otherwise unexplained congenital anomaly and perinatal death (PND) but is not routine practice. The evidence base for "genomic autopsy" after termination of pregnancy for fetal anomaly (TOPFA) and PND has been synthesized to determine the value of this investigation. METHODS: We conducted a systematic review and meta-analysis of studies meeting prespecified inclusion criteria and containing ≥10 cases of TOPFA or PND (with or without major congenital abnormality), in which ES or GS was conducted. We determined test performance, including diagnostic yield, accuracy, and reliability. We also reported outcomes associated with clinical utility and harms, where described. RESULTS: From 2245 potentially eligible studies, 32 publications were eligible and had data extracted, representing 2120 cases that could be meta-analyzed. No diagnostic accuracy or comparative studies were identified, although some analysis of concordance between different ES/GS methodologies could be performed. Studies reporting parent-related outcomes or long-term follow-up did not do so in a systematic or quantifiable manner. CONCLUSION: Evidence suggests that approximately one-fourth to one-third of fetal losses associated with TOPFA or unexplained PND are associated with a genetic cause identifiable on ES or GS-albeit this estimate varies depending on phenotypic and background risk factors. Despite the large body of evidence on ES and GS, little research has attempted to validate the accuracy of testing, nor measure the clinical or societal outcomes in families that follow the diagnostic investigation in this context.

Anencephaly in a triplet pregnancy: Unprecedented spontaneous reabsorption in-utero and subsequent normal delivery via c-section: A rare case report.

Multiple pregnancies are infrequently encountered, with the incidence of spontaneous triplet pregnancies estimated at approximately 1 in 7000 pregnancies. Triplet gestations are recognized for their propensity to bring about a spectrum of pregnancy related complexities, encompassing fetal structural abnormalities, neurological anomalies, disturbances in amniotic fluid levels, preterm labor, and suboptimal neonatal outcomes. Anencephaly is a serious congenital defect where the brain and skull do not fully develop, often leading to a poor prognosis. It's a preventable neural tube defect (NTD) with timely intake of folic acid, is caused by the incomplete closure of the neural tube during fetal development, resulting in the absence of the cerebrum (responsible for thinking and coordination) and the front part of the brain (forebrain) in affected infants. While anencephaly in a triplet is scarcely reported, spontaneous reabsorption of an anencephalic fetus in utero is a rare and unexpected event, with no documented cases in triplet pregnancies until now. We report a case of anencephaly in a triplet pregnancy where the mother presented late during her third trimester, the reabsorption of the anencephalic fetus in utero is an unprecedented event, highlighting the unique nature of this triplet pregnancy.

Advancing fetal ultrasound diagnostics: Innovative methodologies for improved accuracy in detecting down syndrome.

This research work explores the integration of medical and information technology, particularly focusing on the use of data analytics and deep learning techniques in medical image processing. Specifically, it addresses the diagnosis and prediction of fetal conditions, including Down Syndrome (DS), through the analysis of ultrasound images. Despite existing methods in image segmentation, feature extraction, and classification, there is a pressing need to enhance diagnostic accuracy. Our research delves into a comprehensive literature review and presents advanced methodologies, incorporating sophisticated deep learning architectures and data augmentation techniques to improve fetal diagnosis. Moreover, the study emphasizes the clinical significance of accurate diagnostics, detailing the training and validation process of the AI model, ensuring ethical considerations, and highlighting the potential of the model in real-world clinical settings. By pushing the boundaries of current diagnostic capabilities and emphasizing rigorous clinical validation, this research work aims to contribute significantly to medical imaging and pave the way for more precise and reliable fetal health assessments.

Decision-making for congenital anomalies diagnosed during pregnancy: a narrative review.

PURPOSE: The purpose of this narrative review was to assess the limited literature on fetal anomalies diagnosed in the second trimester of pregnancy and parental decision-making and identify sources of information deemed as facilitators and barriers to medical decisions. METHODS: This was a literature review of source material and information about fetal anomalies diagnosed in the second trimester of pregnancy, decision-making, decision tools or aids, and sources of information for anomalies. The search string used explored related peer-reviewed publications and systematic reviews between 2007 and 2024. We also reviewed references from publications meeting inclusion criteria. The search was conducted between June 2022 and February 2024. Exclusion criteria included conference abstracts, non-peer reviewed literature, and articles not available in English language. A total of 77 publications were identified by searching multiple databases using a predefined search string. The search encompassed full text articles from 2007 to 2024 and 11 full-text publications were ultimately included in the review. A list of 45 co-occurring keywords was generated from the included texts, with each keyword having a minimum of two co-occurrences. RESULTS: Key themes identified included (1) the role of the clinician and need for development of professional knowledge and empathy surrounding discussion of fetal anomalies with patients; (2) information gathering, with individuals reporting use of multiple strategies to obtain information; while the majority found information satisfying, they preferred more details on diagnosis, long-term outcomes of the fetus/child and management of the pregnancy or termination process; and (3) decision-making, the path and process of how individuals made decisions about the pregnancy including quality of life, future fertility, and seeking other people's experiences. CONCLUSION: Many factors contribute to an individual's decision-making after a diagnosis of a fetal anomalies diagnosed in the second trimester of pregnancy, ranging from personal beliefs and goals to shared experiences of others and access to care. Understanding how sources of information may be deemed both as facilitators and barriers to different individuals during the decision-making process is important for healthcare providers in order to understand how to most effectively support patients. There is a dearth of information on training healthcare professionals to provide support to patients facing these decisions.

The status and influencing factors of abnormal fetal pregnancy outcomes in 265 cases in China: a retrospective study.

Background: With the advancement of prenatal diagnosis technology, the detection rate of fetal abnormalities continues to increase, imposing a significant burden on both society and families. A retrospective analysis of essential information about pregnant women, such as their pregnancy history and delivery details, is crucial for understanding the primary factors that influence pregnancy outcomes in women with fetal abnormalities. This analysis is of great significance for improving the level of pregnancy management and outcomes in pregnant women with fetal abnormalities. Objective: To retrospectively analyze the pregnancy outcomes of women with fetal abnormalities and explore the factors that influence these outcomes. Methods: Pregnant women's pregnancy outcomes were collected from the medical information system and through telephone follow-ups. The chi-square test and logistic regression were used to analyze the factors influencing pregnancy outcomes. Results: Among 265 pregnant women diagnosed with fetal abnormalities, 190 chose to continue the pregnancy, while 75 chose to terminate it. Pregnant women with multiple fetal abnormalities (OR = 3.774, 95% CI [1.640-8.683]) were more likely to choose termination of pregnancy (TOP), and pregnant women who were advised to terminate their pregnancy or make a careful choice were more likely to terminate the pregnancy (OR = 41.113, 95% CI [11.028-153.267]). Conclusion: The number of organs involved in fetal abnormalities and treatment recommendations were identified as the primary factors influencing pregnancy outcomes. Improving awareness of maternal health care during pregnancy, early pregnancy screening technology, and a multidisciplinary diagnosis and treatment approach are of great significance in assisting pregnant women in making informed decisions and improving fetal prognosis.

Amnioreduction for Polyhydramnios in a Consecutive Series at a Single Center: Indications, Risks and Perinatal Outcomes.

Pregnancies complicated by severe polyhydramnios are associated with a high rate of underlying fetal anomaly. Amnioreduction may be offered to alleviate maternal symptoms. This is a retrospective study of amnioreductions performed on singleton and twin gestations complicated by symptomatic polyhydramnios between 2010 and 2023 at our tertiary referral center. The indications, procedural techniques and pregnancy and neonatal outcomes were retrieved from an archive database and reviewed with the use of the maternal and child medical record chart, the hospital electronic clinical discharge report and telephone recalls. Our study comprised 86 pregnancies, 65 singletons and 21 twin pregnancies. Fetal anomalies were identified in 79% of cases, mainly gastrointestinal obstructive anomalies; 9.3% of cases were idiopathic. The median gestational age at first amnioreduction was 32.5 weeks, and peri-procedural complications were rare (1 case of placental abruption and 2 cases of preterm delivery). The median gestational age at delivery was 36.5 weeks, with a median prolongation of the pregnancy from the time of first drain until birth of 30 days. Preterm labor < 37 weeks occurred in 48.8% of procedures, with 26.7% of patients delivering before 34 weeks and pPROM < 36 weeks recorded in 23.2% of cases. In conclusion, amnioreduction offered to alleviate maternal symptoms is a reasonably safe procedure with a low complication rate. These pregnancies necessitate management in a tertiary referral center because of their need for a multidisciplinary approach both prenatally and postnatally.

Termination of pregnancy due to fetal anomaly: A qualitative study from Turkey on women's experiences.

BACKGROUND: Termination of pregnancy due to fetal anomaly is an unexpected traumatic event for women. It can cause serious complications that can negatively affect both the physical and psychological health of women. AIM: This study aims to examine the experiences of women who underwent medical termination for fetal anomaly in the second trimester. METHODS: The study included 12 women whose pregnancies were terminated due to fetal anomaly. Data were collected through in-depth interviews until data sufficiency was reached. Thematic analysis method was used to analyze the data. This study was conducted using an inductive qualitative design. The women's statements were examined and double-coded. By examining the codes, main themes were created after sub-themes. RESULTS: Women's experiences were analyzed in five themes: difficulty in decision-making (1), emotional impact (2), stigmatization (3), dilemma between hope and anxiety (4), and post-termination care and support needs (5). Participants stated that they experienced many emotions such as indecision, sadness, helplessness, guilt, and remorse during the medical termination process. Hope, anxiety, fear, social pressure and support needs were also frequently experienced in this process. CONCLUSION: Termination of pregnancy in the second trimester due to fetal anomaly caused significant psychological symptoms. In order to prevent long-term health complications, it will be important for health professionals to provide interventions designed to meet the demands of women diagnosed with fetal anomaly.

The most common congenital malformations in dogs: Literature review and practical guide.

Congenital malformations can affect almost 7% of canine newborns. The increase of commercial dog breeding and inbreeding used to maintain the striking characteristics of each breed, the appearance of malformations has become increasingly common, especially in brachycephalic dogs. The causes are diverse, and include genetic, nutritional, iatrogenic, and infectious factors, often making it difficult to establish a cause-consequence relationship. The high mortality associated with malformations comes not only from the fact that some are incompatible with life, but also because even if many undergo surgical treatment or correction, they require specific management, monitoring, and clinical treatment for an indefinite period of time. The most common malformations such as cleft lip and palate, hydrocephalus and anasarca have been studied for a long time, and it is currently known that brachycephalic dogs have a greater predisposition, however, for other less common conditions as gastroschisis and hypospadias, there is only a few case reports. The appearance of congenital defects in a litter leads to financial losses for the breeder, emotional losses for the owner and the veterinarian and harms the well-being of that individual. For this reason, the aim of this review article is to gather relevant information on the characteristics, diagnosis, and management of the main malformations in puppies. It is essential that the veterinarian is prepared to diagnose and treat these conditions, reducing negative impacts on animals and owners.

Pregnancy outcomes in patients with familial Mediterranean fever: systematic review and meta-analysis.

OBJECTIVE: The relationship between FMF and pregnancy outcomes remains unclear. This systematic review and meta-analysis aimed to clarify this association. METHODS: Electronic databases-PubMed, Web of Science, Cochrane, and EMBASE-were searched on 20 December 2022, using specific search terms. Case-control, cohort, and randomized clinical trial studies comparing patients with FMF and healthy controls were considered eligible. We excluded systematic reviews, meta-analyses, case series with fewer than five cases, republished articles without new findings on pregnancy outcomes, studies targeting paternal FMF, and those not published in English. The results were summarized in the form of odds ratios (ORs) and 95% CIs, using a random-effects model. This study was registered in the University hospital Medical Information Network Clinical Trials Registry (Japan) as UMIN000049827. RESULTS: The initial electronic search identified 611 records, of which 9 were included in this meta-analysis (177 735 pregnancies, 1242 with FMF, and 176 493 healthy controls). FMF was significantly associated with increased odds of preterm deliveries (OR, 1.67; 95% CI, 1.05-2.67; I2 = 22%) and insignificantly associated with increased odds of fetal growth restriction (OR, 1.45; 95% CI, 0.90-2.34; I2 = 0%) and hypertensive disorders during pregnancy (OR, 1.28; 95% CI, 0.87-1.87; I2 = 0%). CONCLUSION: FMF was significantly associated with preterm delivery and insignificantly associated with fetal growth restriction and hypertensive disorders. All of the included studies were observational studies. Treatment characteristics were not fully collected from the articles, and further analysis of treatments for FMF in pregnancy is still warranted.

Development and validation of an artificial intelligence assisted prenatal ultrasonography screening system for trainees.

OBJECTIVE: Fetal anomaly screening via ultrasonography, which involves capturing and interpreting standard views, is highly challenging for inexperienced operators. We aimed to develop and validate a prenatal-screening artificial intelligence system (PSAIS) for real-time evaluation of the quality of anatomical images, indicating existing and missing structures. METHODS: Still ultrasonographic images obtained from fetuses of 18-32 weeks of gestation between 2017 and 2018 were used to develop PSAIS based on YOLOv3 with global (anatomic site) and local (structures) feature extraction that could evaluate the image quality and indicate existing and missing structures in the fetal anatomical images. The performance of the PSAIS in recognizing 19 standard views was evaluated using retrospective real-world fetal scan video validation datasets from four hospitals. We stratified sampled frames (standard, similar-to-standard, and background views at approximately 1:1:1) for experts to blindly verify the results. RESULTS: The PSAIS was trained using 134 696 images and validated using 836 videos with 12 697 images. For internal and external validations, the multiclass macro-average areas under the receiver operating characteristic curve were 0.943 (95% confidence interval [CI], 0.815-1.000) and 0.958 (0.864-1.000); the micro-average areas were 0.974 (0.970-0.979) and 0.973 (0.965-0.981), respectively. For similar-to-standard views, the PSAIS accurately labeled 90.9% (90.0%-91.4%) with key structures and indicated missing structures. CONCLUSIONS: An artificial intelligence system developed to assist trainees in fetal anomaly screening demonstrated high agreement with experts in standard view identification.

Men don't cry: The supporting role as necessary for women's well-being after termination of pregnancy.

OBJECTIVES: The present study investigated similarities and differences of grief between men and women as part of the parental couple 1 year after termination of pregnancy (TOP) following a diagnosis of fetal anomaly. METHODS: We applied a method triangulation approach. We assessed several aspects of perinatal grief, depressive symptoms, posttraumatic stress, and anxiety as well as health-related quality of life. In addition, we conducted qualitative interviews with the men to explore the fathers' roles in the partnership during pregnancy, the time of the diagnosis, TOP, and afterwards. RESULTS: Women showed a more elevated grief response compared with men. Qualitative data revealed that men in our sample were mainly concerned with their partners' well-being and concentrated on supporting their partners rather than on their own emotions. In addition, the supportive role of the male partner plays a central role in the well-being of women and the man's coping with the situation. CONCLUSION: In clinical work, but also when developing new questionnaires, the specific role of the male partners needs to be considered more thoroughly. Particular attention should be paid to identify the men who find it difficult to assume the supporting role.

Subsequent pregnancy outcomes after second trimester miscarriage or termination for medical/fetal reason: A systematic review and meta-analysis of observational studies.

INTRODUCTION: Women with a prior stillbirth or a history of recurrent first trimester miscarriages are at increased risk of adverse pregnancy outcomes. However, little is known about the impact of a second trimester pregnancy loss on subsequent pregnancy outcome. This review investigated if second trimester miscarriage or termination for medical reason or fetal anomaly (TFMR/TOPFA) is associated with future adverse pregnancy outcomes. MATERIAL AND METHODS: A systematic review of observational studies was conducted. Eligible studies included women with a history of a second trimester miscarriage or termination for medical reasons and their pregnancy outcomes in the subsequent pregnancy. Where comparative studies were identified, studies which compared subsequent pregnancy outcomes for women with and without a history of second trimester loss or TFMR/TOPFA were included. The primary outcome was livebirth, and secondary outcomes included: miscarriage (first and second trimester), termination of pregnancy, fetal growth restriction, cesarean section, preterm birth, pre-eclampsia, antepartum hemorrhage, stillbirth and neonatal death. Studies were excluded if exposure was nonmedical termination or if related to twins or higher multiple pregnancies. Electronic searches were conducted using the online databases (MEDLINE, Embase, PubMed and The Cochrane Library) and searches were last updated on June 16, 2023. Risk of bias was assessed using the Newcastle-Ottawa scale. Where possible, meta-analysis was undertaken. PROSPERO registration: CRD42023375033. RESULTS: Ten studies were included, reporting on 12 004 subsequent pregnancies after a second trimester pregnancy miscarriage. No studies were found on outcomes after second trimester TFMR/TOPFA. Overall, available data were of "very low quality" using GRADE assessment. Meta-analysis of cohort studies generated estimated outcome frequencies for women with a previous second trimester loss as follows: live birth 81% (95% CI: 64-94), miscarriage 15% (95% CI: 4-30, preterm birth 13% [95% CI: 6-23]).The pooled odds ratio for preterm birth in subsequent pregnancy after second trimester loss in case-control studies was OR 4.52 (95% CI: 3.03-6.74). CONCLUSIONS: Very low certainty evidence suggests there may be an increased risk of preterm birth in a subsequent pregnancy after a late miscarriage. However, evidence is limited. Larger, higher quality cohort studies are needed to investigate this potential association.

Incremental yield of whole-genome sequencing over chromosomal microarray analysis and exome sequencing for congenital anomalies in prenatal period and infancy: systematic review and meta-analysis.

OBJECTIVES: First, to determine the incremental yield of whole-genome sequencing (WGS) over quantitative fluorescence polymerase chain reaction (QF-PCR)/chromosomal microarray analysis (CMA) with and without exome sequencing (ES) in fetuses, neonates and infants with a congenital anomaly that was or could have been detected on prenatal ultrasound. Second, to evaluate the turnaround time (TAT) and quantity of DNA required for testing using these pathways. METHODS: This review was registered prospectively in December 2022. Ovid MEDLINE, EMBASE, MEDLINE (Web of Science), The Cochrane Library and ClinicalTrials.gov databases were searched electronically (January 2010 to December 2022). Inclusion criteria were cohort studies including three or more fetuses, neonates or infants with (i) one or more congenital anomalies; (ii) an anomaly which was or would have been detectable on prenatal ultrasound; and (iii) negative QF-PCR and CMA. In instances in which the CMA result was unavailable, all cases of causative pathogenic copy number variants > 50 kb were excluded, as these would have been detectable on standard prenatal CMA. Pooled incremental yield was determined using a random-effects model and heterogeneity was assessed using Higgins' I2 test. Subanalyses were performed based on pre- or postnatal cohorts, cases with multisystem anomalies and those meeting the NHS England prenatal ES inclusion criteria. RESULTS: A total of 18 studies incorporating 902 eligible cases were included, of which eight (44.4%) studies focused on prenatal cohorts, incorporating 755 cases, and the remaining studies focused on fetuses undergoing postmortem testing or neonates/infants with congenital structural anomalies, constituting the postnatal cohort. The incremental yield of WGS over QF-PCR/CMA was 26% (95% CI, 18-36%) (I2 = 86%), 16% (95% CI, 9-24%) (I2 = 85%) and 39% (95% CI, 27-51%) (I2 = 53%) for all, prenatal and postnatal cases, respectively. The incremental yield increased in cases in which sequencing was performed in line with the NHS England prenatal ES criteria (32% (95% CI, 22-42%); I2 = 70%) and in those with multisystem anomalies (30% (95% CI, 19-43%); I2 = 65%). The incremental yield of WGS for variants of uncertain significance (VUS) was 18% (95% CI, 7-33%) (I2 = 74%). The incremental yield of WGS over QF-PCR/CMA and ES was 1% (95% CI, 0-4%) (I2 = 47%). The pooled median TAT of WGS was 18 (range, 1-912) days, and the quantity of DNA required was 100 ± 0 ng for WGS and 350 ± 50 ng for QF-PCR/CMA and ES (P = 0.03). CONCLUSION: While WGS in cases with congenital anomaly holds great promise, its incremental yield over ES is yet to be demonstrated. However, the laboratory pathway for WGS requires less DNA with a potentially faster TAT compared with sequential QF-PCR/CMA and ES. There was a relatively high rate of VUS using WGS. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Enhancing Fetal Anomaly Detection in Ultrasonography Images: A Review of Machine Learning-Based Approaches.

Fetal development is a critical phase in prenatal care, demanding the timely identification of anomalies in ultrasound images to safeguard the well-being of both the unborn child and the mother. Medical imaging has played a pivotal role in detecting fetal abnormalities and malformations. However, despite significant advances in ultrasound technology, the accurate identification of irregularities in prenatal images continues to pose considerable challenges, often necessitating substantial time and expertise from medical professionals. In this review, we go through recent developments in machine learning (ML) methods applied to fetal ultrasound images. Specifically, we focus on a range of ML algorithms employed in the context of fetal ultrasound, encompassing tasks such as image classification, object recognition, and segmentation. We highlight how these innovative approaches can enhance ultrasound-based fetal anomaly detection and provide insights for future research and clinical implementations. Furthermore, we emphasize the need for further research in this domain where future investigations can contribute to more effective ultrasound-based fetal anomaly detection.

Pregnant people's views and knowledge on prenatal screening for fetal trisomy in the absence of a national screening program.

Multiple non-invasive prenatal tests (NIPT) are available to screen for risk of fetal trisomy, however, there is no national prenatal screening program in Republic of Ireland. This study aimed to analyze pregnant people's opinions on availability, cost, and knowledge of NIPT for fetal aneuploidy. An anonymous questionnaire on prenatal screening tests and termination of pregnancy was distributed to patients attending antenatal clinics at a tertiary hospital. Descriptive analyses and chi-squared tests were completed. Among respondents, 62% (200/321) understood the scope of prenatal screening tests, with 77% (251/326) and 76% (245/323) correctly interpreting low- and high-risk test results, respectively. Only 26% (83/319) of participants had heard of NIPT. Chi-square tests showed a higher proportion of these people were ≥40 years old (p-value, <0.001), had post-graduate education (p-value, <0.001), or attended private clinics (p-value <0.001). Over 91% (303/331) of participants said every pregnant person should be offered prenatal screening tests for aneuploidy and 88% (263/299) believed these should be free. While pregnant Irish individuals have reasonable understanding of screening test interpretation, most were unaware of screening options. Additionally, participants' views on availability and associated cost of tests show the need for a national prenatal screening program, including education on fetal aneuploidy. These findings have relevance for countries without screening policies and are pertinent for broader maternity services.

Attitudes of Chinese maternal and child health professionals toward termination of pregnancy for fetal anomaly: a cross-sectional survey.

Objectives: This study explores the attitudes of Chinese maternal and child health professionals toward the termination of pregnancy for fetal anomaly (TOPFA) based on four case scenarios and further identifies the factors that influence their attitudes. Methods: This cross-sectional study, conducted from February 14-21, 2022, aimed to explore the attitudes of maternal and child health professionals toward TOPFA in Hunan Province. We targeted health service institutions across 14 prefecture-level cities and the autonomous prefecture. A questionnaire was made available online and shared via the instant communication platform, WeChat. Participants were recruited through the same platform and completed the survey online. Descriptive statistics were used to analyze the data, and binary logistic regression was performed to determine factors affecting the health professionals' attitudes toward TOPFA, expressed as the odds ratio (OR) and 95% confidence intervals (CI). Results: The study found that 63.5% of health professionals approved of the birth of a fetus with cleft lip and palate, while 36.5% opposed it. Similarly, 39.7% approved of the birth of a fetus with phenylketonuria, while 60.3% opposed it. The percentages of those in favor of and against the birth of a fetus with precocious heart disease were 45.5 and 54.5%, respectively, and those for and against the birth of a fetus with missing fingers were 50.8 and 49.2%, respectively. The top three factors considered by health professionals when agreeing on TOPFA were "the impact of fetal disease on fetal function and growth," "the severity of fetal disease," and "the assessment of indications for fetal disease by professionals and related professional advice." The majority of health professionals (75-78%) preferred joint decision-making by parents regarding the right to decide TOPFA. Conclusion: Our study indicates that the attitudes of health professionals toward TOPFA can differ significantly depending on the specific birth defect under consideration. Notably, the majority of health professionals prioritized "the impact of fetal abnormalities on fetal function and development" when deciding their support for TOPFA, advocating for the decision to be a joint one between the parents. Additionally, factors such as religious beliefs, professional training, age, and job title appeared to influence these attitudes toward TOPFA. Our findings could serve as a reference point in the development of guidelines for the prevention and management of birth defects.

Fetal anomaly diagnosis and termination of pregnancy in Ireland: a service evaluation following implementation of abortion services in 2019.

BACKGROUND: Approximately 3% of pregnancies are diagnosed with a fetal anomaly, of which a proportion is fatal or life-limiting. The introduction of legislation for termination of pregnancy in Ireland in 2019 for conditions "likely to lead to the death of the fetus" made termination of pregnancy for "fatal fetal anomaly" an option for pregnant women in Ireland. OBJECTIVE: This study examined all cases of termination of pregnancy performed for major fetal anomaly over the first 3 years of service implementation, including cases that did not meet the legal criteria, resulting in women traveling outside Ireland for abortion care. STUDY DESIGN: A retrospective service evaluation of tertiary fetal medicine clinics in 2 tertiary maternity hospitals between 2019 and 2021 was undertaken. We compared pregnancies of patients diagnosed with fatal fetal anomaly who underwent termination of pregnancy in Ireland with those of patients who did not meet the legal criteria and hence traveled outside Ireland for termination of pregnancy. RESULTS: Overall, 139 pregnancies met the inclusion criteria; 83 (59.7%) patients had termination of pregnancy in the tertiary maternity hospital (local), and 56 (40.3%) traveled abroad, mainly to the United Kingdom. Demographic characteristics were similar between the 2 groups, as was gestation at diagnosis and delivery. All cases where termination of pregnancy was local were discussed at fetal medicine multidisciplinary meetings, as opposed to 34% of cases of patients who ultimately traveled outside Ireland for termination of pregnancy. The most common indication (25/83; 30.1%) for local termination of pregnancy was trisomy 18, followed by anencephaly. Traveling to obtain abortion care was mainly due to diagnosis of trisomy 21 (30/56; 53.6%), followed by other multiple structural anomalies/syndromes deemed locally as not meeting the legal criteria. CONCLUSION: Legislation for termination of pregnancy for fetal anomaly, restricted to fatal diagnoses, is difficult to implement, requires significant multidisciplinary input, and can lead to limited services for pregnancies diagnosed with major fetal anomalies. Our findings emphasize the impact of legislative barriers to abortion care for fetal anomaly and the need for policies and services that support women's access to termination of pregnancy for fetal anomaly.

Adverse maternal outcomes associated with major fetal malformations after singleton live birth.

BACKGROUND: Major fetal malformations complicate 2% to 5% of live births. It is unclear what effect fetal malformations have on severe maternal morbidity. OBJECTIVE: This study aimed to compare maternal outcomes between individuals with a fetus with major or minor fetal malformations and those with a fetus without major or minor fetal malformations. STUDY DESIGN: This was a secondary analysis of the Consortium on Safe Labor database. Our study was limited to the current analysis of pregnant individuals with a singleton live birth. Major fetal malformations based on the Centers for Disease Control and Prevention's criteria were defined. Fetal malformations that did not meet the criteria for major fetal malformations were categorized as minor fetal malformations. Our primary maternal outcome was severe maternal morbidity as defined by the Centers for Disease Control and Prevention. Missing values were imputed by multiple imputation using the k-nearest neighbor imputation method. Poisson regression with robust error variance was used to obtain adjusted relative risks with 95% confidence intervals, controlling for confounders. RESULTS: Of 216,881 deliveries, there were 201,860 cases (93.1%) with no congenital malformation, 12,106 cases (5.6%) with minor fetal malformations, and 2845 cases (1.3%) with major fetal malformations. Compared with individuals with no fetal malformation, those with major fetal malformations were more likely to have severe maternal morbidity (0.7% vs 1.2%; adjusted relative risk, 1.51; 95% confidence interval, 1.07-2.12), postpartum hemorrhage (3.6% vs 6.9%; adjusted relative risk, 1.76; 95% confidence interval, 1.50-2.06), preeclampsia (5.1% vs 8.3%; adjusted relative risk, 1.48; 95% confidence interval, 1.31-1.67), and cesarean delivery (26.7% vs 42.3%; adjusted relative risk, 1.51; 95% confidence interval, 1.45-1.58). Compared with individuals with no fetal malformation, those with minor fetal malformations were more likely to have severe maternal morbidity (0.7% vs 1.4%; adjusted relative risk, 1.73; 95% confidence interval, 1.48-2.02), maternal death (0.01% vs 0.03%; adjusted relative risk, 4.50; 95% confidence interval, 1.18-17.19), postpartum hemorrhage (3.6% vs 6.1%; adjusted relative risk, 1.54; 95% confidence interval, 1.41-1.68), preeclampsia (5.1% vs 8.6%; adjusted relative risk, 1.50; 95% confidence interval, 1.41-1.60), superimposed preeclampsia (1.2% vs 2.4%; adjusted relative risk, 1.25; 95% confidence interval, 1.14-1.38), cesarean delivery (26.7% vs 39.6%; adjusted relative risk, 1.38; 95% confidence interval, 1.35-1.41), chorioamnionitis (3.0% vs 4.7%; adjusted relative risk, 1.41; 95% confidence interval, 1.29-1.53), and postpartum endometritis (0.6% vs 1.0%; adjusted relative risk, 1.58; 95% confidence interval, 1.31-1.90). CONCLUSION: Major and minor congenital fetal malformations are independent risk factors for severe maternal morbidity and other pregnancy complications.

Maternal Anxiety and Empowerment in Pregnancies Complicated By Fetal Surgical Anomalies: A Mixed Methods Study.

INTRODUCTION: Fetal surgical anomalies cause significant anxiety. Following the diagnosis, prenatal counseling with shared decision-making occurs. Empowerment is an essential component of shared decision-making. The purpose of this mixed-methods study was to evaluate the association between patient empowerment with depression and anxiety among patients with fetal surgical anomalies. METHODS: An explanatory mixed-methods study was conducted at a large tertiary fetal center among patients with recently diagnosed surgical fetal anomalies from May, 2021 to May, 2022. Validated cross-sectional surveys were used to collect quantitative data regarding patient empowerment, depression, and anxiety. Univariate analysis was used to compare the association of maternal empowerment with depression and anxiety. Qualitative data was obtained from semistructured interviews to explore maternal anxiety and depression relative to the fetal diagnosis. Thematic analysis was performed to identify themes. RESULTS: Seventy-four patients were recruited for the quantitative study. Pregnancy-related empowerment score and patient empowerment score were significantly lower for expectant mothers with high anxiety (P < 0.01). Eighteen patients participated in qualitative interviews. Participants expressed significant anxiety related to their fetal diagnosis. Exacerbating stressors included social determinants, personal history of miscarriage, and changing family dynamics. CONCLUSION: Our results suggest there is an association between increased depression and anxiety with lower empowerment. These findings have important implications for prenatal counseling, as targeted interventions to improve psychosocial support to treat depression and anxiety might also improve empowerment.