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Mifepristone is an anti‐progestational drug that is the first component of the standard medical abortion regimen. For women who take mifepristone and then do not take misoprostol, which is the second component of the medical abortion regimen, it is possible that their pregnancy may continue to live birth. Since mifepristone is commonly used for medical abortion up to 9–10 weeks gestation, any adverse or teratogenic effects on the developing embryo/fetus must be considered, given exposure during the critical time of its development and organogenesis. Toxicology and teratology reports have cited studies demonstrating teratogenic effect of mifepristone in some animals. Current clinical guidelines for women exposed to mifepristone in the first trimester of pregnancy state that it is not known to be teratogenic based on limited published evidence from humans. The aim of this narrative systematic review was to investigate embryonic/fetal exposure to mifepristone and any association with congenital or fetal anomalies. This study was conducted by systematic searches of health databases from inception to February 2024. The references of relevant citations were manually searched to retrieve any additional citations not captured in database searching. Congenital anomalies and adverse outcomes were encountered at various doses of mifepristone exposure. A number of the congenital anomalies encountered in this review were explained by circumstances other than exposure to mifepristone. The present systematic review did not find data to support mifepristone being implicated as a teratogen. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to explore parents' experiences of their relationships and interactions with healthcare professionals (HCPs) during care related to prenatal diagnosis and termination of pregnancy for foetal anomaly (TOPFA). Methods: A qualitative approach was used. Participants included 33 parents (23 women and 10 men) from Northern Ireland (n = 11) and Ireland (n = 22) who had a TOPFA. Data collection methods included semi‐structured interviews and written narrative accounts. Data were analysed using thematic analysis. Results: Findings confirmed that TOPFA was a traumatic, life‐altering experience for parents, impacting their health and well‐being. The actions, behaviours and words of HCPs impacted how parents perceived and interpreted their healthcare experiences and their access to services and supports. In relation to this, five themes are presented: (1) the importance of compassionate and non‐judgemental care, (2) the value of effective information and communication, (3) the desire for compassionate care for baby and facilitation of memory making, (4) the need for continuity of care and (5) parents' experiences of healthcare relationships during times of legislative change. Conclusion: This research reveals the important role HCPs play in helping parents cope with prenatal testing and TOPFA. Parents who had a positive relationship with an HCP, in which information was communicated effectively and compassionate and non‐judgmental care was provided, felt more supported and more able to accept and adapt to their loss. Patient and Public Contribution: An advisory group composed of parents who had experienced TOPFA and HCPs with experience in caring for such families were involved in the study from the outset, contributing to the design and development of data collection materials, interpretation of the findings and design of dissemination materials. [ABSTRACT FROM AUTHOR]

Purpose: To assess the incidence of associated structural anomalies, chromosomal/genetic abnormalities, infections, and perinatal outcomes of fetuses with ventriculomegaly (VM), also to evaluate the role of fetal magnetic resonance imaging (MRI) in detecting associated intracranial anomalies. Methods: Retrospective cohort study of 149 prenatally diagnosed pregnancies with fetal VM. VM was classified as mild (Vp = 10–12 mm), moderate (Vp = 12.1–15 mm), and severe (Vp > 15 mm). Fetal MRI was performed to 97 pregnancies. Results: The incidences of an associated CNS, non-CNS, chromosomal anomaly, genetic abnormality and fetal infection were 42.3%, 11.4%, 6.1%, 2.1% and 1.3%, respectively. Fetal MRI identified additional CNS anomalies in 6.7% of cases, particularly in severe VM. The incidences of perinatal outcomes were 18.8% termination of pregnancy, 4% intrauterine and 8.1% neonatal or infant death. The rates of fetuses alive at > 12 months of age with neurological morbidity were 2.6%, 11.1% and 76.9% for mild, moderate and severe isolated VM, respectively. Conclusion: The prognosis of fetuses with VM mostly depends on the severity and the associated anomalies. Mild to moderate isolated VM generally have favorable outcomes. Fetal MRI is particularly valuable in fetuses with isolated severe VM. [ABSTRACT FROM AUTHOR]

Background: Whole exome sequencing (WES) has been recommended to investigate the genetic cause of fetal structural anomalies. In this retrospective study, we aimed to evaluate the diagnostic yield of WES in our cohort of families with pregnancy loss or termination of pregnancy due to structural anomalies. Methods: As aneuploidy, triploidy and copy number variations (CNVs) could be detected by exome-based CNV analysis, only WES is performed in this study. And the results of 375 cases assessed by WES were analyzed. Results: The overall detection rate was 32.3% (121/375), including aneuploidy and triploidy (7.5%, 28/375), CNVs (5.1%, 19/375) and single-nucleotide variants (SNVs) /insertions or deletions (Indels) (19.7%, 74/375). Among these, the diagnostic yield for likely pathogenic (LP) or pathogenic (P) CNVs is 4.8% (18/375), and the diagnostic yield for LP or P SNVs/Indels is 15.2% (57/375). And an additional 4.8% (18/375) of cases had CNVs or SNVs/Indels classified as variants of uncertain significance (VUS) with potential clinical significance. Conclusions: Our findings expand the known mutation spectrum of genetic variants related to fetal abnormalities, increase our understanding of prenatal phenotypes, and enable more accurate counseling of recurrence risk for future pregnancies. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the clinical features and perinatal outcomes of antenatally diagnosed fetuses with omphalocele and gastroschisis. Material and Methods: This was a retrospective, single-center, cohort study of prenatally diagnosed fetuses with omphalocele and gastroschisis followed-up and delivered at a university hospital. Demographic, pregnancy, birth and perinatal outcomes were compared between gastroschisis and omphalocele. Results: A total of 75 fetuses with omphalocele and 21 cases with gastroschisis were evaluated. The mean maternal age of women carrying a fetus with omphalocele was significantly higher than the women with gastroschisis (p=0.001). Associated structural anomalies were found in 53.3% and 4.7% of fetuses with omphalocele and gastroschisis, respectively (p<0.001). The rate of chromosomal anomaly was 8.3% in pregnancies with omphalocele. In liveborn pregnancies, the mean gestational age at delivery and birth weight did not differ between the study groups. Time to postoperative oral intake, duration of parenteral nutrition and length of hospital stay were significantly longer in babies with gastroschisis than omphalocele (p<0.01). Rates of termination, intrauterine, neonatal and infant death of fetuses with omphalocele were 25.3%, 6.7%, 10.7% and 2.7% respectively. Time to postoperative oral intake, duration of parenteral nutrition and duration of hospitalization were significantly longer in babies with complex compared to simple gastroschisis (p<0.01). Survival rates were 95.2%, 82.9% and 20% in fetuses with gastroschisis, isolated and non-isolated omphalocele, respectively. Conclusion: Associated structural and chromosomal anomalies were significantly more common in fetuses with omphalocele compared to those with gastroschisis. Prognosis of fetuses with omphalocele depended on the associated structural and chromosomal anomalies, whereas bowel compromise was the main determining factor in gastroschisis. [ABSTRACT FROM AUTHOR]

Objective: Advances in ultrasound and molecular genetics have changed the field of late termination of pregnancy (LTOP), sparking ethical debates worldwide. In 2007, Israel updated its LTOP policies, requiring a 30% or higher probability of severe handicap for approval of LTOP after 24 weeks' gestation. Purpose: In this retrospective study, we compared LTOP indications and approval rates before (Group 1: 1998–2007) and after (Group 2: 2008–2021) this policy change. Methods: Shamir medical records from January 1, 1998 to December 31, 2021 were examined and yielded 4047 abortions, of which 248 were identified as LTOP preformed after 24 weeks' gestation. These cases were then categorized into two groups. Data including maternal age, obstetric history, indications for abortion, diagnosis, week of termination, and genetic/sonographic findings were analyzed. The approval rates and indications pre- and post-policy change were compared. Results: Group 1 (LTOP 1998–2007) comprised 95 cases (10.6%), and Group 2 (LTOP 2008–2021) was composed of 153 cases (4.9%). Fetal structural anomalies remained the dominant indication for both groups (67.4 and 65.3%, respectively), with a slight increase in confirmed genetic anomalies from 26.3% (Group 1) to 28% (Group 2). Conclusion: Our findings indicate a decrees in the proportion per year from 10.6 to 4.9% LTOP. Technological advances in genetic evaluation and sonography may have contributed to the early increased detection and decrees in cases reaching LTOP. These results highlight the importance of ongoing ethical reviews and adherence to strict protocols for early detection and termination before 24 weeks' gestation. [ABSTRACT FROM AUTHOR]

Introduction: The decision to terminate a pregnancy due to fetal anomalies can have a significant emotional impact, especially in second‐trimester terminations. Previous studies on the psychological consequences of pregnancy termination have had limitations, and little is known about the outcomes for partners and the impact of fetal donation. Therefore, we aimed to investigate the psychological effects of second‐trimester pregnancy termination and identify factors associated with outcomes in both women and men, including donation of fetal remains to science. Material and Methods: A longitudinal cohort study was conducted at the Amsterdam UMC in the Netherlands, involving women and partners who underwent termination at or before 23 weeks and 6 days of gestation. Questionnaires were administered at termination, 6 weeks, and 4 months after. We utilized validated questionnaires to assess psychological morbidity (grief, post‐traumatic stress and postnatal depression and quality of life [QoL]), and factors that could potentially influence outcomes. Results: Of 241 participants, women displayed more pronounced psychological distress than men, though both groups improved over time. Four months after termination, 27.4% of women and 9.1% of men showed signs of pathological grief. Scores indicative for postnatal depression occurred in 19.8% women and 4.1% of men. A prior psychiatric history was a consistent predictor of poorer outcomes. Fetal donation to the Dutch Fetal Biobank was associated with reduced likelihood of symptoms of complicated grief four months after termination. Conclusions: Second‐trimester termination of pregnancy for fetal anomalies can lead to psychological morbidity, particularly in women. However, there is a notable improvement over time for both groups. Individuals with prior psychiatric history appear more vulnerable post‐termination. Also, fetal donation to science did not have a negative impact on psychological well‐being. [ABSTRACT FROM AUTHOR]

The use of prenatal testing in Japan is expected to increase. However, there are ethical concerns regarding pregnancy termination upon the detection of fetal chromosomal abnormalities, such as Down syndrome. Furthermore, factors associated with decision-making following a positive result of Down syndrome after prenatal screening remain unclear. Therefore, we aimed to evaluate the association between decision-making among university students following a hypothetical positive result of Down syndrome in prenatal screening and their perception of their future career development defined as vocational identity. This cross-sectional study included 256 individuals (109 men, 143 women, and four who preferred not to answer). Self-anonymous semi-structured questionnaires were distributed to collect information regarding socio-demographic characteristics, vocational identity, and decision-making following a positive prenatal screening result of Down syndrome. Vocational identity was assessed using the Vocational Identity Measure. Women students were more likely to intend to continue the pregnancy (76.9%, p < 0.05); however, students without siblings (68.2%, p < 0.01) and men and women students with higher scores for vocational identities who were raised in an academically oriented family were more likely to intend to terminate the pregnancy (p < 0.05). Therefore, gender and vocational identity were associated with decision-making following a positive result of Down syndrome. Further qualitative and quantitative studies on factors associated with decision-making following a positive result of Down syndrome are necessary to eliminate the burden and social barrier, including gender division of labor and the effect of vocational career for people wishing to parent a child with Down syndrome. [ABSTRACT FROM AUTHOR]

Introduction Material and Methods Results Conclusions Placenta accreta spectrum disorders (PAS) lead to major complications in pregnancy. While the maternal morbidity associated with PAS is well known, there is less information regarding neonatal morbidity in this setting.The aim of this study is to describe the neonatal outcomes (fetal malformations, neonatal morbidity, twin births, stillbirth, and neonatal death), using an international multicenter database of PAS cases.This was a prospective, multicenter cohort study based on prospectively collected cases, using the international multicenter database of the International Society for PAS, carried out between January 2020 and June 2022 by 23 centers with experience in PAS care. All PAS cases were included, regardless of whether singleton or multiple pregnancies and were managed in each center according to their own protocols. Data were collected via chart review. Local Ethical Committee approval and Data Use Agreements were obtained according to local policies.There were 315 pregnancies eligible for inclusion, with 12 twin pregnancies, comprising 329 fetuses/newborns; 2 cases were excluded due to inconsistency of data regarding fetal abnormalities. For the calculation of neonatal morbidity and mortality, all elective pregnancy terminations were excluded, hence 311 pregnancies with 323 newborns were analyzed. In our cohort, 3 neonates (0.93%) were stillborn; of the 320 newborns delivered, there were 10 cases (3.13%) of neonatal death. The prevalence of major congenital malformations was 4.64% (15/323 newborns), most commonly, cardiovascular, central nervous system, and gastrointestinal tract malformations. The overall prevalence of major neonatal morbidity in pregnancies complicated by PAS was 47/311 (15.1%). There were no stillbirths, neonatal deaths, or fetal malformations in reported twin gestations.Although some outcomes may be too rare to detect within our cohort and data should be interpreted with caution, our observational data supports reassuring neonatal outcomes for women with PAS. [ABSTRACT FROM AUTHOR]

Background: During the 1970s the Nordic countries liberalized their abortion laws. Objective: We assessed epidemiological trends for induced abortion on all Nordic countries, considered legal similarities and diversities, effects of new medical innovations and changes in practical and legal provisions during the subsequent years. Methods: New legislation strengthened surveillance of induced abortion in all countries and mandated hospitals that performed abortions to report to national abortion registers. Published data from the Nordic abortion registers were considered and new comparative analyses done. The data cover complete national populations. Results and conclusions: After an increase in abortion rates during the first years following liberalization, the general abortion rates stabilized and even decreased in all Nordic countries, especially for women under 25 years. From the mid-1980s higher awareness about pregnancy termination led women to present at an earlier gestational age, which was accelerated by the introduction of medical abortion some years later. Most terminations (80–86%) are now done before the 9th gestational week in all countries, primarily by medical rather than surgical means. Introduction of routine ultrasound screening in pregnancy during the late 1980s, increased the number of 2nd trimester abortions on fetal anomaly indications without an overall increase in the proportion of 2nd relative to 1st trimester abortions. Further refinement of ultrasound screening and non-invasive prenatal diagnostic methods led to a slight increase in the proportion of early 2nd trimester abortions after the year 2000. Country-specific differences in abortion rates have remained stable over the 50 years of liberalized abortion laws. [ABSTRACT FROM AUTHOR]

Purpose: The main purpose of this study is to compare the validity of transcervical embryoscopy method with standard uterine evacuation method in detecting more accurate karyotypes in miscarriages below tenth week of pregnancy. Additionally, the frequency and distribution of fetal morphological abnormality were evaluated. Methods: A prospective study was carried out at the Gazi University Faculty of Medicine, Department of Obstetrics and Gynecology. Patients with missed abortions between sixth and tenth gestational weeks were included in the study group, and fetal morphological examination and direct embryonic biopsy were performed by transcervical embryoscopy. The control group consisted of patients who experienced miscarriage and genetic material obtained from routine uterine evacuation between February and October 2023. Result: A total of 60 patients in the study group and 189 patients in the control group were evaluated. The median ages, previous miscarriage numbers, median gravida numbers, and median gestational weeks were comparable between groups. Chromosomal abnormality was detected in 24 (42.8%) and 52 embryos (29.9%) in the study and control groups, respectively (p = 0.004). Culture failure rates were 6.6% (n = 4) and 7.9% (n = 15) in the study and control groups, respectively. In the study group, 12 embryos had a morphological abnormality in which 6 of them had normal karyotype. Conclusion: Direct embryonic biopsy with transcervical embryoscopy is an effective method to exclude maternal decidual cell contamination and placental mosaicism in miscarriages for karyotype analysis. In addition, detecting anomalies in morphology might contribute our understanding in the process of miscarriages which arises independent from structural/numerical chromosomal abnormalities. [ABSTRACT FROM AUTHOR]

Introduction: The corpus callosum is one of the five main cerebral commissures. It is key to combining sensory and motor functions. Its structure can be pathological (dysgenesis) or completely absent (agenesis). The corpus callosum dys- or agenesis is a rare disease (1:4000 live births), but it can have serious mental effects. Methods: In our study, we processed the data of 64 pregnant women. They attended a prenatal diagnostic center and genetic counseling from 2005 to 2019 at the Department of Obstetrics and Gynecology at Semmelweis University. Results: The pregnancies had the following outcomes: 52 ended in delivery, 1 in spontaneous abortion, and 11 in termination of pregnancy (TOP) cases (n = 64). The average time of detection with imaging tests was 25.24 gestational weeks. In 16 cases, prenatal magnetic resonance imaging (MRI) was performed. If the abnormality was detected before the 20th week, a genetic test was performed on an amniotic fluid sample obtained from a genetic amniocentesis. Karyotyping and cytogenetic tests were performed in 15 of the investigated cases. Karyotyping gave normal results in three cases (46,XX or XY). In one of these cases, postnatally chromosomal microarray (CMA) was later performed, which confirmed Aicardi syndrome (3q21.3–21.1 microdeletion). In one case, postnatally, the test found Wiedemann–Rautenstrauch syndrome. In other cases, it found X ring, Di George syndrome, 46,XY,del(13q)(q13q22) and 46,XX,del(5p)(p13) (Cri-du-chat syndrome). Edwards syndrome was diagnosed in six cases, and Patau syndrome in one case. Conclusions: We found that corpus callosum abnormalities are often linked to chromosomal problems. We recommend that a cytogenetic test be performed in all cases to rule out inherited diseases. Also, the long-term outcome does not just depend on the disease's severity and the associated other conditions, and hence proper follow-up and early development are also key. For this reason, close teamwork between neonatology, developmental neurology, and pediatric surgery is vital. [ABSTRACT FROM AUTHOR]

Purpose: This retrospective study aims to describe anatomical parameters of omphaloceles and to analyze their association with anatomical, genetic, or syndromic malformations. Methods: Cases were selected from digital records of two university centers, a certified regional registry and personal records. Patients from 1998 to 2018 with omphalocele and live birth (LB), termination of pregnancy due to fetal anomaly (TOPFA) and fetal death (FD) were included. Cases born outside Western Switzerland and/or with upper or lower coelosomy were excluded. Results: We analyzed 162 cases with the following distribution: 57 (35%) LB, 91 (56%) TOPFA and 14 (9%) FD. TOPFA was significantly more frequently performed in cases with non-isolated omphalocele, i.e., omphaloceles with associated major malformations (especially cardiovascular and genitourinary), genetic/chromosomal anomalies, or syndromes. For LB, associated anatomical malformations, genetic or chromosomal anomalies were not significantly associated with the size of the omphalocele or the liver involvement. Conclusions: The proportion of cases resulting in TOPFA was higher among fetuses with major malformations, genetic or chromosomal anomalies. Despite the large size of this cohort, and in contrary to previous publications, the size of the omphalocele and/or liver involvement does not allow for conclusions regarding the presence or number of associated malformations, genetic or chromosomal anomalies. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: For many women, a late termination of pregnancy (TOP) can be an enormous psychological burden. Few studies have investigated the long-term psychological impact of late TOP. Methods: N = 90 women answered a questionnaire containing questions about anxiety, depression and somatization (Brief-Symptom Inventory, BSI-18) shortly before (T1) and 2–6 years after (T4) their late termination of pregnancy. Results: Prior to the late TOP, 57.8% of participants showed above-average levels of overall psychological distress (66.7% anxiety, 51.1% depression, 37.8% somatization). This number decreased significantly over time for all scales of the BSI-18. 2–6 years later, only 10.0% of women still reported above-average levels (17.8% anxiety, 11.1% depression, 10.0% somatization). Conclusions: Our results support those of previous research showing that late TOP has a substantial psychological impact on those experiencing it in the short-term. In the long-term, most women return to normal levels of psychological distress, although some still show elevated levels. Limitations of the study include monocentric data collection, drop-out between T1 and T4, and the relatively wide range of two to six years after TOP. Further research should be conducted in order to identify factors that impact the psychological processing of the experience. [ABSTRACT FROM AUTHOR]

Aim: To construct a psychosocial intervention programme for women diagnosed with foetal anomalies based on their needs in China. Design: A three round‐modified Delphi survey from September to November 2020. Methods: In Round 1, based on literature review and qualitative interviews, a face‐to‐face meeting with eight taskforce members was conducted to generate the initial intervention indicators. In Round 2 and 3, 15 experts and three stakeholders (women undergoing termination of pregnancy for foetal anomalies) were invited by email to evaluate the importance of the indicators and built the final psychosocial intervention programme. Results: The response rate for both two rounds is 100%. The experts' authority coefficient was 0.86. The Kendall W value of the two rounds ranged between 0.191 and 0.339. A needs‐based psychosocial intervention programme was established, including four periods (denial, confirmation, decision‐making and recovery), three needs‐based supports (information, social and acceptance commitment therapy) and 27 intervention indicators. The mean value of the importance of each index was 4.00–5.00. Further research is required to evaluate whether this programme is realistic and effective for the target audiences. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Objective Congenital birth defects affect 3 to 5% of pregnancies. Genetic counseling can help patients navigate the testing process and understand results. The study objective was to identify predictors and utility of genetic counseling at the time of pregnancy termination. Additionally, we aimed to see what proportion of patients would benefit from additional testing based on the results of the genetic testing. Study Design This was a retrospective cohort review of all terminations performed for fetal anomalies by an academic center from July 2016 to May 2020. Indications were stratified by abnormal serum screening or types of abnormal ultrasound findings. Data were abstracted regarding uptake of genetic counseling and testing results. Abnormal results that warranted additional testing regarding recurrence risks were noted. Multivariable logistic regression was performed to identify predictors of receipt of genetic counseling and testing. Results Of 387 patients, 57% (n = 220) received preprocedure genetic counseling and 43% (n = 167) did not. Among patients who received diagnostic testing, 62% (n = 194) had genetic counseling compared with 38% (n = 121) without counseling (adjusted odds ratio 2.46, 95% confidence interval [1.41–4.29], p < 0.001). Among the entire cohort, 38% (n = 148) had suspected aneuploidy based on serum screening. Of these, 89% (n = 132/148) had definitive testing, 92% (n = 122/132) confirming the aneuploidy. Among the other 68% (n = 239) with structural anomalies, 76% (n = 183) had diagnostic testing with 29% (n = 53) yielding an abnormal result. Among those fetuses with structural anomalies, 36% (n = 19/53) of genetic diagnoses warranted additional parental testing because of risk of recurrence compared with only 2% (n = 2/122) of patients with abnormal serum screening results alone. Conclusion Genetic counseling was associated with increased uptake of diagnostic testing, which yielded useful information and prompted additional testing. This is important for determining etiology and recurrence risk and should be offered to patients presenting for termination for fetal indications, as well as providing diagnostic closure for patients. Key Points Genetic counseling increases the uptake of diagnostic testing in patients with fetal anomalies. Patients with ultrasound anomalies received less diagnostic testing despite actionable results 36% of the time. Genetic testing is invaluable for recurrence risk counseling even if patients chose to terminate. [ABSTRACT FROM AUTHOR]

Abortion has always been a vital issue in reproductive and legal medicine. Globally, medical termination of pregnancy (MTP) is allowed primarily on six grounds: (1) to save the life of a woman, (2) risk to the physical and mental health of a woman, (3) pregnancy due to rape or incest, (4) risk of a child being born with a serious fetal anomaly, (5) socio-economic reasons, (6) a woman's request. Most countries have standard legal abortion policies, yet there remains disparity with respect to prohibition, gestational age limit, specific grounds, etc. Abortion laws are constantly changing globally based on regional social and economic viewpoints. Recently, some countries have liberalised their abortion laws, while a few have further restricted theirs. While some countries still completely prohibit MTP. Like some others, India amended its MTP law in 2021. We consider the medico-legal and ethical issues and examine existing MTP laws both globally and as generally applied in India. [ABSTRACT FROM AUTHOR]

Background: Omphalocele and gastroschisis are the most frequent congenital developmental abdominal wall defects. Prenatal diagnosis of omphalocele and gastroschisis is critical in the management of the pregnancy, affording patients the option of termination. This study aims to evaluate the prenatal diagnosis and postnatal outcomes of omphalocele and gastroschisis cases. Materials and Methods: The cases of gastroschisis and omphalocele diagnosed prenatally and followed up at our university were evaluated retrospectively between January 2019 and January 2022. Maternal demographic and clinical characteristics and perinatal outcomes were compared between the cases. Results: This study evaluated 42 omphalocele and nine gastroschisis cases. All gastroschisis cases were isolated (p =.001). Additional anomalies were present in 61.9% of omphalocele cases. While two patients with gastroschisis refused the invasive procedure, the genetic results of the others were normal. The karyotype was abnormal in 42.9% of omphalocele cases (p =.008). Half of the omphalocele cases were terminated, and 38.1% (n = 8) of the terminated omphalocele cases were trisomy 18. The coexistence of multiple system anomalies and cystic hygroma was high in the terminated cases. In all cases of gastroschisis, only the intestines protruded from the abdominal wall into the amniotic fluid. The number of survivors of omphalocele was 23.8%. The median hospital stay was 25 and 14 days for gastroschisis and omphalocele, respectively. Conclusion: Prenatal diagnosis of omphalocele and gastroschisis is critical in pregnancy management. The presence of associated anomalies determines the prognosis of omphalocele and gastroschisis. [ABSTRACT FROM AUTHOR]

Forty‐seven of the 203 countries with abortion laws detailed by the Center for Reproductive Rights have a health exception (HE) clause, inconsistent in both wording and implementation, even within countries. This narrative review sought to determine the understanding and implementation of the legally permissible HE in different countries, or states, to provide clarification and guidance for strategies that will maximize permitted access to safe abortion within the law and avoid undue delays that harm the lives and health of women and their families. A multimethod approach was used. The literature search for countries with HE laws, including physical, mental, and social health, and exceptions for threat to life, rape, incest, and fetal anomaly, returned sparse results. The review of emblematic cases that had reached regional courts on the grounds of human rights violation for failure to obtain legal abortion under the country's HE clause included some examples qualifying on multiple grounds. We interviewed 15 physician advocates from 14 countries about use of the HE in their countries. Informants from Latin America interpreted the HE to refer to physical, psychological, and social health. HE laws are common but confusing, with significant opportunities to improve access through clarification and implementation. Where multiple grounds permit ending a pregnancy, the least onerous exception for the patient is the most ethical. Examples of progress in Colombia and Ghana demonstrate successful approaches to broader HE implementation. Synopsis: Poor understanding and implementation of health exception abortion laws cause harm to women. Emblematic cases and country examples of success provide direction for progress. [ABSTRACT FROM AUTHOR]

AIM: The study aims to examine the effective factors influencing the decision of families to whom medical abortion was recommended due to fetal anomalies. METHODS: The cross-sectional study was conducted at İstanbul University Hospital, Department of Gynecology and Obstetrics, High-Risk Pregnancies and Maternity Ward. The sample consisted of 233 pregnant women, to whom medical abortion was recommended due to the diagnosis of foetal anomaly collected inover a 1-year period. RESULTS: While 122 of the families decided to have medical abortions, 111 decided to give birth. The rate of deciding on medical abortion was the highest in families whose fetuses had a high expectation rate of lethal anomalies (p < .001). The most effective factor for the families who decided to give birth was their religious beliefs. The most effective factor for the families who decided to have a medical abortion was the information they received from health professionals. CONCLUSION: While the religious beliefs of the parents were effective in the decision to give birth, the information they received from the health professionals was effective in the decision to have a medical abortion. [ABSTRACT FROM AUTHOR]

Distinguishing patterns of grief over time in parents with a loss in pregnancy or during the neonatal period is important for identification of parents with severe grief symptoms, who may need additional support. Our aim was to describe grief in this population and to examine variations by type of loss in a large prospective cohort. We used questionnaire data from the Danish longitudinal cohort, Life After the Loss, which contains information on parents with a loss in pregnancy (from 14 weeks) or during the neonatal period. Parents completed the Prolonged Grief-13 scale at 1, 7, and 13 months after their loss. We applied Latent Growth Mixture Modelling to identify prolonged grief trajectories and used multinomial regression models to assess factors associated with class membership. Three distinct trajectories were identified in 676 parents: resilience (73.1%), recovery (16.9%), and chronic (10%). The distribution varied by type of loss, and the chronic group were overrepresented by parents with stillbirths (16.2%) and neonatal deaths (16.1%) in contrast to parents with spontaneous abortions (8.2%) and termination of pregnancy due to fetal anomalies (6.2%). Furthermore, not having a living child or being a woman was associated with following the chronic trajectory. These results underline that, while most bereaved parents are resilient, 10% experience consistently high levels of grief symptoms during the first year after the loss. Information on type of loss, gender, and whether the parent has living children are meaningful indicators of grief class membership. • Latent Growth Mixture Modelling identified grief trajectories in parents with a pregnancy or neonatal loss. • Three trajectories emerged: resilient (76.1%) , recovery (16.9%) , and chronic (10%). • Type of loss was a meaningful indicator of grief trajectory. [ABSTRACT FROM AUTHOR]

Multifetal gestations are at increased risk for structural anomalies relative to singletons. Determination of chorionicity is critical, as the risk is highest for monochorionic pregnancies. In a singleton gestation, counseling is structured around optimization of fetal outcomes and careful consideration of the patient's choices in management decisions. However, in multifetal gestations affected by a fetal anomaly, complex counseling with consideration for the pregnancy as a whole is necessary. We review the incidence of structural anomalies in twins and highlight unique considerations including selective termination for discordant anomalies. We emphasize the role of shared decision making between provider and patient. [ABSTRACT FROM AUTHOR]

Objectives: Congenital knee dislocation (CKD) is a rare condition, affecting 1 in 100 000 newborns. Its prenatal diagnosis is challenging and not well described in the literature, especially when it appears isolated and not as part of a complex malformation or syndromic pattern. The purpose of this study was to provide a comprehensive review of the available literature on the prenatal diagnosis and postnatal outcome of CKD and to summarize the current evidence on this topic. Methods: A systematic review of the literature on the prenatal diagnosis of CKD was performed in PubMed, Scopus and EMBASE. A predefined combination of specific keywords was used, focusing on intrauterine manifestations, diagnostic methods, prenatal behavior, postnatal treatment and neonatal outcome as well as long‐term outcome in terms of ambulation, motion and joint stability. The quality of studies was assessed using the National Institutes of Health tool for quality assessment of case series. A summary of results was carried out providing proportions and rates of diagnostic and prognostic features associated with this rare condition. Results: In total, 20 cases were retrieved for analysis, of which 19 were obtained from the identified eligible studies (n = 16) and one was an unpublished case from our center. The median gestational age at prenatal diagnosis, which was made using ultrasound in most cases, was 20 weeks (range, 14–38 weeks). Bilaterality was observed in 11/20 (55%) cases. The condition was isolated in 7/20 (35%) cases and associated with other anomalies in 13/20 (65%) cases. An association was observed with oligohydramnios (4/20 (20%)), and an invasive procedure was performed in 13/20 (65%) cases, including 11 cases with an invasive procedure performed for diagnostic purposes. Genetic testing was normal in all isolated cases for which information was available (4/7), while a genetic syndrome was present in 10/13 (77%) non‐isolated cases (Larsen, Noonan, Grebe, Desbuquois or Escobar syndrome). There were seven terminations of pregnancy, of which six were performed in cases with associated anomalies and one in an isolated case, 11 cases of postnatal survival, one case of intrauterine death and one of neonatal death. The fetal and neonatal deaths occurred in cases with associated anomalies or abnormal genetic findings. Postnatal treatment was mostly conservative, with only two reports (18% of the 11 surviving neonates) of surgical intervention, both in cases with associated anomalies. Postnatal follow‐up was up to 1 year in most cases, and motor outlook appeared normal in all isolated cases. Conclusions: CKD is a rare fetal anomaly with a prenatal diagnosis achievable from the early second trimester, for which a favorable outcome can be expected when no associated anomalies are present. Prenatal diagnosis should include detailed ultrasound assessment and amniocentesis for extensive genetic studies, particularly in non‐isolated cases. Early postnatal treatment achieves success in most cases without surgical intervention and leads to a normal motor outlook. © 2023 The 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]

Body stalk anomaly is a term used to describe a pattern of severe defects that are incompatible with life. This condition should be suspected when encountering a large abdominal defect, along with axial skeletal abnormalities such as kyphosis or scoliosis and a short or absent umbilical cord. Body stalk anomaly is considered a fatal anomaly, thus being crucial to distinguish it from other anterior wall defects when evaluating the management options. We report the case of a patient diagnosed at 15 weeks of gestation with a complex of severe fetal anomalies that were confirmed after the termination of pregnancy as body stalk anomaly, and we also discuss data published in literature regarding this topic. [ABSTRACT FROM AUTHOR]

The article presents a case study of dystocia in a 14-year-old Saddlebred broodmare at 304 days of gestation, complicated by umbilical cord torsion and bilateral, symmetrical limb deficiency (amelia) of the forelimbs. Topics discussed include equine dystocia diagnosis and treatment, the association between limb deficiency amelia and umbilical cord torsion, and considerations for managing such rare cases.

Aim: This study aimed to document depression and anxiety levels in pregnant women with intrauterine fetal anomalies based on objective measurement inventories, raise awareness of this issue and provide the necessary support to patients. Materials and Method: Forty pregnant women between the ages of 18-41 who were diagnosed with a major fetal anomaly, and decided their pregnancy to continue were included in the study group. Forty pregnant women with a healthy fetus and gestational week and maternal age-matched with the study group were included as the control group. The Beck Depression Inventory (BDI) and the Spielberger State-Trait Anxiety Inventory (STAI) were applied to pregnant women. Results: Anxiety and depression levels were compared between pregnant women diagnosed with an intrauterine fetal anomaly and the control group. The mean BDI score was significantly higher in the study group (P=0.008). In the STAI scoring, the mean state anxiety level (P0O.OO1) and the mean trait anxiety score (P=0.001) were found to be statistically higher in the study group compared to the control group. Conclusion: The depressive symptom scores and the state and trait anxiety levels of pregnant women with the intrauterine fetal anomaly, increased compared to the healthy pregnant women. These pregnant women should be provided with professional psychological support and necessary medical assistance during this difficult period. [ABSTRACT FROM AUTHOR]

The disability ground in the law can be thought to send a negative message about disabled people on the basis that disability is singled out as a reason for abortion, and also that abortion for this reason is allowed until birth. Footnotes 1 Many of the presentations from this conference are available to view here: 'Prenatal Testing, Disability, and the Ethical Society: Reflections Following I Crowter i ' at https://www.youtube.com/playlist?list=PLCn48d2ExkzLBXad30RfiIdeGMEI7covI 2 I R (Crowter) v Secretary of State for Health and Social Care i [2022] 1 WLR 2513. Both Heidi Crowter and Aidan Lea-Wilson have Down syndrome, although the issues raised in the case, and in the conference, relate to disability more broadly. This special issue of I The New Bioethics i follows on from a conference that took place at St Stephen's House, University of Oxford, in March 2022, on 'Prenatal Testing, Disability, and the Ethical Society: Reflections Following I Crowter i '.[1] The conference title refers to an important decision from the High Court, I R (Crowter) v Secretary of State for Health and Social Care i .[2] In this case, the claimants challenged the law on abortion on the grounds of disability under the Abortion Act 1967, and their arguments raised a number of difficult ethical questions about prenatal testing, disability, and what kind of society we wish to have - and what is needed for it to be an "ethical society". [Extracted from the article]

Termination of pregnancy for fetal anomaly (TOPFA) represents a uniquely distressing and challenging situation for women and their partners. Having appropriate screening tools that best highlight the psychological symptoms experienced by women and their partners is important to be able to guide care. Many validated screening tools for pregnancy and psychological distress exist, with variation in the ease of application and the domains addressed in each. We undertook a scoping review of tools used to assess psychological symptoms in women and/or partners after TOPFA. Of 909 studies, 93 studies including 6248 women and 885 partners were included. Most of the included studies assessed symptoms within six months of TOPFA and highlighted high rates of distress, grief and trauma symptoms. There was broad variation in the tools used between studies and the timing of their implementation. Focusing the care of women and families who undergo TOPFA to validated, broadly available and easily applied screening tools that assess a range of psychological symptoms is key in being able to identify the potential interventions that may be of benefit. [ABSTRACT FROM AUTHOR]

This article discusses the trends and outcomes of feticide followed by late termination of pregnancy (TOP) at a tertiary hospital in the UK. The study conducted a retrospective audit of 99 cases, with 70 feticides performed between 2016 and 2020, and a re-audit of 29 cases in 2023. The median number of feticides per year increased from 14 to 29, and the median gestation at feticide increased from 22+2 weeks to 24 weeks. The most common indications for TOP were neurological and cardiac abnormalities. Improved documentation was observed in the 2023 cohort, and most cases used 1% lidocaine for feticide. Complications occurred in 21% of cases, with surgical management required in some instances. The rise in feticides and late TOP may be attributed to the introduction of exome sequencing. [Extracted from the article]

Currently, 11- to 14-week–detailed anatomic surveys are generally reserved for at-risk populations because of the lower incidence of major fetal anomalies in low-risk populations. Until recently, such standard reflects, in part, the fact that pregnant persons retain the option of abortion even if the initial anatomy scan was in the second trimester of pregnancy. However, on June 24, 2022, the US Supreme Court overturned Roe , and many states subsequently lowered the gestational age at which abortions can legally be performed. Here, we argue for a reconsideration of limitations on first-trimester scans to preserve pregnant persons' reproductive options, particularly in those states that have imposed laws limiting access to abortion. Moreover, we acknowledge and discuss some of the challenges that will be associated with this approach. [ABSTRACT FROM AUTHOR]

The aim of this review was to discuss bioethics in prenatal diagnosis and health care after recent legislative and judicial changes affecting reproductive rights, such as the repeal of 'Roe v. Wade' in the United States. We recognize that abortion involves particular moralities that are not universal or shared by all cultures, groups, and individuals. We reviewed the historical aspects of embryology and personhood, fetal morbidity and mortality, and parental options for prenatal diagnostic testing. We examined relevant ethical issues including informed consent, the emergence of fetal pain, reproductive autonomy, the fiduciary responsibilities of pregnant mothers, and the obligations of physicians caring for the maternal–fetal dyad. The code of medical ethics includes respect for decisional privacy and the protection of information shared in confidence. When a fetal anomaly is diagnosed, pregnant mothers must be informed about the risks, burdens, and alternatives in either continuing or terminating the pregnancy. Parental choice should include the right to refuse testing, the informed choice not to know about certain genetic test results, and the right to make informed decisions about the best interests of the future child. In the diagnosis and care of fetal anomalies, moral dilemmas arise. Before fetal viability, the mother's autonomy, sense of beneficence, and personal values should be trusted and respected. Perinatal palliative care should be available to pregnant mothers whose anomalous fetus is carried to birth. [ABSTRACT FROM AUTHOR]

Background: Access to publicly funded abortion in Australia is limited, with a considerable proportion carried out by private providers. There are no nationally reported data on public abortion services, and referral pathways are poorly coordinated between hospital and primary care sectors. HealthPathways is an online system for use in primary care that provides information on referral pathways to local services. The aim of this study was to describe abortion referral pathways for each HealthPathways portal in Australia. Methods: A review of Australian HealthPathways content on abortion was undertaken between January and June 2022. For each HealthPathways portal, data were extracted on referral options to abortion services. Results: Overall, 17 out of 34 Australian HealthPathways consented to be included. Nearly half (47%) had no public services listed for surgical abortion, and 35% had no public services for medical abortion. The majority (64% for surgical abortion, 67% for medical abortion) emphasised that public services should be considered only as a last resort. There was variation in information regarding gestation-specific options, the time-critical nature of referrals, and the importance of women's own preference when deciding between medical or surgical abortion. Conclusion: Despite few remaining legal restrictions to abortion, many regions across Australia either do not have public abortion services or do not provide information about them. There is an urgent need for transparency around public abortion service availability, clear guidelines to support referral pathways, and commitment from State and Federal governments to expand the availability of accessible, no-cost abortion in Australia. Access to publicly funded abortion in Australia is limited, and there are no nationally reported data on service availability. Despite few remaining legal restrictions to abortion, this study found that many regions across Australia either do not have public abortion services or do not provide information about them. There is an urgent need for transparency around public abortion and commitment from State and Federal governments to expand the availability of accessible, no-cost abortion in Australia. [ABSTRACT FROM AUTHOR]

South Africa has an abortion law which codifies the broad themes of reproductive rights set out in the Constitution of South Africa, other laws and national guidelines. Certain wording of the conditions in the Choice Act for abortion after 20 weeks' gestation, are open to interpretation, being 'severe malformation of the fetus' and 'risk of injury to the fetus'. From 24 weeks onwards, abortion is carried out by feticide/induced fetal cardiac asystole ('IFCA') and subsequent induction of labour in South Africa. Some maternal‐fetal units have developed guidelines to assist clinicians and patients in decision‐making around eligibility for abortion after 20 weeks' gestation, given the broad terms in the law. We consider the guideline used by an institution in the Western Cape for abortion after 23 weeks and 6 days gestation, in terms of its alignment with the law on reproductive rights and its compliance with fair and transparent procedures. We also note its effect on respect for patients and on staff professionalism. [ABSTRACT FROM AUTHOR]

Objective: This review aimed to identify guidelines with recommendations applicable to the antenatal management of dichorionic diamniotic twin pregnancies within high-income countries, appraise their methodological quality, and discuss the similarities and variability across guidelines. Method: A systematic literature review of electronic databases was performed. Manual searches of guideline repositories and websites of professional organisations were performed to identify additional guidelines. The protocol for this systematic review was registered on PROSPERO (CRD42021248586, 25 June 2021). AGREE II and AGREE-REX tools were applied to assess the quality of eligible guidelines. A narrative and thematic synthesis described and compared the guidelines and their recommendations. Results: Twenty-four guidelines were included, from which 483 recommendations were identified across 4 international organisations and 12 countries. Guidelines addressed eight themes and recommendations were classified accordingly: chorionicity and dating (103 recommendations), fetal growth (105 recommendations), termination of pregnancy (12 recommendations), fetal death (13 recommendations), fetal anomalies (65 recommendations), antenatal care (65 recommendations), preterm labour (56 recommendations) and birth (54 recommendations). Guidelines showed significant variability in recommendations, with conflicting recommendations regarding non-invasive preterm testing, definitions surrounding selective fetal growth restriction, screening for preterm labour and the timing of birth. Guidelines lacked a focus on standard antenatal management of DCDA twins, management of discordant fetal anomaly and single fetal demise. Conclusions: Specific guidance for dichorionic diamniotic twins is overall indistinct and access to guidance regarding the antenatal management of these pregnancies is currently difficult. Management of discordant fetal anomaly or single fetal demise needs greater consideration. [ABSTRACT FROM AUTHOR]

Introduction: The velocity of fetal deterioration in fetal growth restriction is extremely variable, which makes monitoring and counseling very challenging. The soluble fms‐like tyrosine kinase to placental growth factor (sFlt1/PlGF) ratio provides a readout of the vasoactive environment that correlates with preeclampsia and fetal growth restriction and that could be useful to predict fetal deterioration. Previous studies showed a correlation between higher sFlt1/PlGF ratios and lower gestational ages at birth, although it is unclear whether this is due to the increased incidence of preeclampsia. Our goal was to evaluate whether the sFlt1/PlGF ratio predicts faster fetal deterioration in early fetal growth restriction. Material and methods: This was a historical cohort study in a tertiary maternity hospital. Data from singleton pregnancies with early fetal growth restriction (diagnosed before 32 gestational weeks) confirmed after birth monitored between January 2016 and December 2020 were retrieved from clinical files. Cases of chromosomal/fetal abnormalities, infection and medical terminations of pregnancy were excluded. The sFlt1/PlGF ratio was acquired at diagnosis of early fetal growth restriction in our unit. The correlation of log10 sFlt1/PlGF with latency to delivery/fetal demise was assessed with linear, logistic (positive sFlt1/PlGF if >85) and Cox regression excluding deliveries for maternal conditions and controlling for preeclampsia, gestational age at time of ratio test, maternal age and smoking during pregnancy. Receiver‐operating characteristic (ROC) analysis tested the performance of sFlt1/PlGF ratio in predicting delivery for fetal reasons in the following week. Results: 125 patients were included. Mean sFlt1/PlGF ratio was 91.2 (SD 148.7) and 28% of patients had a positive ratio. A higher log10 sFlt1/PlGF ratio predicted shorter latency for delivery/fetal demise in linear regression after controlling for confounders, β = −3.001, (−3.713 to −2.288). Logistic regression with ratio positivity confirmed these findings (latency for delivery 5.7 ± 3.32 weeks for ratios ≤85 vs 1.9 ± 1.52 weeks for ratios >85); β = −0.698 (−1.064 to −0.332). Adjusted Cox regression showed that a positive ratio confers a significantly positive hazard ratio (HR) for earlier delivery/fetal demise, HR 9.869 (5.061–19.243). ROC analysis showed an area under the curve of 0.847 (SE ± 0.06). Conclusions: sFlt1/PlGF ratio is correlated with faster fetal deterioration in early fetal growth restriction, independently of preeclampsia. [ABSTRACT FROM AUTHOR]

Aim and Objectives: The purpose of this study was to explore the effect and paths of stigma on depressive symptoms in women who underwent termination of pregnancy for foetal anomaly (TOPFA). Background: Stigma may cause distress and depressive symptoms for women with TOPFA. However, few studies have examined the relationship between stigma and depression in women with TOPFA. Design: This study followed the STROBE checklist. A cross‐sectional survey was conducted among 469 women with TOPFA. The path analysis used hierarchical multiple regression and structural equation model to examine the mediating role of social support and psychological flexibility on the relationship between stigma and depressive symptoms. Results: Hierarchical multiple regression analysis revealed the mediation effect of psychological flexibility between stigma and depressive symptoms. By contrast, social support did not present such effect. The structural equation model confirmed that stigma, directly and indirectly, affected depressive symptoms. Discussion: Many women with TOPFA have severe depressive symptoms and that stigma is an important influencing factor. Psychological flexibility plays an essential role in mitigating the effects of stigma on depressive symptoms. Relevance to clinical practice: Healthcare professionals should focus on measuring and intervening on stigma and psychological flexibility for alleviating the depressive symptoms of women with TOPFA. No Patient or Public Contribution. [ABSTRACT FROM AUTHOR]

With screening for fetal anomaly becoming more common, more families are faced with making decisions based on receiving fetal anomaly diagnoses after the first trimester. After receiving a diagnosis of fetal anomaly, which is typically associated with shock and denial, pregnant people and couples immediately become faced with a difficult decision of either continuing or terminating the pregnancy. Once a pregnancy termination decision has been made, following abortion of a wanted pregnancy, feelings of grief and sadness are common. While research has been done on the impact of decision-making and mental health diagnoses pre- and post-terminating a wanted pregnancy, there has been little research detailing effective coping strategies for dealing with these unexpected and devastating circumstances. The current study is a feminist analytic autoethnography, which details the experience of my own abortion through a reflexive account. I aim to explore my own methods of coping that were successful as I overcame grief, guilt, and anxiety after terminating my wanted pregnancy due to a fetal anomaly. [ABSTRACT FROM AUTHOR]

Advances in fetal ultrasonographic assessment have led to improvements in the antenatal diagnosis of many structural anomalies. Approximately 60% of congenital fetal defects can be diagnosed during the 20 week anomaly scan. Some of them are so severe that the option of termination of pregnancy should be discussed. Some, can be successfully managed in utero, or postnatally. Most pregnancies affected by congenital fetal anomalies are cared for by a specialist team of fetal medicine doctors and midwives, with contributions from clinical geneticists, neonatologists and specialist paediatricians and paediatric surgeons. However, it is important that general obstetricians have a basic knowledge of suspected fetal anomalies in order to support women and their families during their first consultation following the initial diagnosis or suspicion of abnormality. Furthermore, they may well be part of the on call team when labour and birth occur. This article covers the most common structural fetal anomalies in a systematic manner, starting from head and brain abnormalities, and progressing through thoracic, abdominal wall, kidney and bladder malformations, and various skeletal and limb abnormalities. It is important that women are counselled adequately and referred to a fetal medicine centre in a timely manner. [ABSTRACT FROM AUTHOR]

Background: The current detection of fetal chromosomal abnormalities by non-invasive prenatal testing (NIPT) mainly relies on the cell free DNA(cfDNA) in the maternal blood. However, a gestational age of less than 12 weeks or a high maternal BMI affects cfDNA fetal fraction and further the detection by NIPT negatively. In this study, we aim to retrieve the trophoblast cells from the maternal cervix to develop a new sampling method for NIPT enabling an earlier use of NIPT. Methods: We enrolled three patients who wanted to undergo induced abortion at Beijing Hospital between January 2022 and March 2022. Peripheral blood, cervix specimen, and the abortion tissue were collected and processed for each patient. Allele frequencies of the mutated gene loci of the maternal blood and the cervix sample were compared and the Sex Determining Region Y (SRY) gene was tested. Results: The allele frequencies of the mutated gene loci showed no significant difference between the maternal blood and the cervix sample. But we successfully detected signal of the SRY gene in the cervix sample of the only patient carrying a male fetus. Conclusions: The detection of the SRY gene in a cervix sample indicated a successful retrieval of trophoblast cells from the cervix canal. Further study needs to be conducted to verify our finding before its application to the clinical settings. [ABSTRACT FROM AUTHOR]

Pregnancy loss is exceptionally common, yet there exist few interventions for clinical providers to assist parents who are expecting again. Perhaps even less prevalent are practice models for parents who have terminated a pregnancy due to fetal anomaly (TOPFA). In this article, we present the "Double Rainbow" acronym, which provides evidence-supported guidance for counseling people experiencing a subsequent pregnancy after TOPFA. Using prompts of: Remember; Rehearse & Anticipate; Attach & Internalize; Interrogate decision; Neutralize; Normalize; Bond; Breathe & Observe; Optimize health; Weave and Whole story, we tie intervention techniques to evidence-based treatments and clinical practice examples. Filling a gap for guidance for effective intervention with people during subsequent pregnancies after termination of pregnancy due to fetal anomaly, we aim to improve such treatment while also encouraging evaluation of the approach, encouraging evaluation of its use with broader populations. The double RAINBOW approach weaves together evidence-based therapies while also attending to the work of distinguishing past losses and promoting parental attachment and caregiving systems in clients who have terminated a pregnancy due to fetal anomaly. [ABSTRACT FROM AUTHOR]

Fatal Fetal Anomaly (FFA) has generated international media attention as termination of pregnancy (TOP) for FFA was legislated for, for the first time in Ireland. Media offers an insight into what health-related information is available to the public and how it is presented to them. The aim of this study was to examine how information related to FFA, TOP for FFA and perinatal palliative care (PPC) were framed in Irish published media. A critical discourse analysis, which examines the relations between discourse and social and cultural phenomena was implemented. Habermasian's framework facilitated an objective analysis of the text, to facilitate interpretation and understanding of socially produced meanings. A broadsheet and journal were chosen. Dated from 2012 to 2017, 129 articles were identified. Themes of personification of the unborn, human rights and power and politics were embedded in the discourse, creating political influence to sway perceptions and views. Terminology were chosen by different ideological perspectives to create varying contexts and support arguments. PPC was suppressed within the published media. This study highlights misrepresentations in the information delivered to the public and suggests the need for healthcare professionals to expand their media literacy and develop these skills with their patients. [ABSTRACT FROM AUTHOR]

To define the decidual microenvironment in euploid and aneuploid missed abortions and elective termination of pregnancies. Prospective, multicenter, observational study. Tertiary hospital and descriptive analysis of transcriptomic data. A total of 34 patients experienced abortions, including 6 women who underwent elective terminations of pregnancy of unplanned pregnancies and 28 cases with missed abortions. All patients underwent their operations from Sep, 2021 to Sep, 2022. All women underwent villous copy number variation sequencing. Meanwhile, single-cell RNA sequencing were performed in the decidual tissues of 16 women, and reverse transcription quantitative polymerase chain reaction were performed in the decidual tissues of 18 women. Single-cell RNA sequencing was used to explore the changes in the microenvironment of decidual tissues in abortions. Single-cell RNA sequencing indicated that the microenvironment of the decidual tissue of the missed-abortion group was altered, and that the stromal cells (SCs), natural killer cells, macrophages, and epithelial cells all reflected functional imbalances compared with the elective terminations of pregnancy group. We also noted a correlation between the proportion of senescent SCs and chromosomal abnormalities in missed-abortion embryos. The proportion of senescent decidual SCs in the decidual tissue of missed-abortion patients with common chromosomal abnormalities of the fetus was higher, and this was not conducive to fetal growth and was closely related to missed abortion. In addition, we ascertained that the strength of the HLA-KIR interaction between NK1 and NK2 subsets and non-senescent stromal cell subsets in the missed abortion decidual tissues was weakened, potentially playing a role in the occurrence of missed abortion. The decidualization of SCs in the missed-abortion decidual tissues was impaired, the clearance of senescent SCs by NK cells was weakened, the killing toxicity of non-senescent SCs was enhanced, macrophages were insufficiently resident at the maternal–fetal interface, and epithelial cell differentiation was unbalanced—all creating a maternal microenvironment that was not conducive to fetal growth. We posit that interfering with the expression of dysregulated genes in the missed-abortion decidual tissues and reversing the maternal microenvironment might constitute an effective means toward improving the clinical outcome of missed abortions. Intriguingly, we observed a correlation between stromal cell senescence and embryonic chromosomal abnormalities. Thus, we hypothesize that the DIO2 marker of senescent SCs can be used as a risk indicator for the occurrence of missed miscarriages with chromosomal abnormalities of the embryos, and that it can be applied to guide the clinical diagnosis and treatment of recurrent abortion. NCT04425317. [ABSTRACT FROM AUTHOR]

Objective: The diagnosis of posterior fossa abnormalities (PFA) in the intrauterine period and association with pregnancy outcomes are still controversial. PFA is generally referred to maternal-fetal medicine specialists. The primary purpose of PFA diagnosis is to screen for other accompanying abnormalities, provide prognostic information to families, and discuss the termination option. Material and Methods: This retrospective study was conducted in patients diagnosed with PFA between January 2013 and September 2020 in a tertiary perinatology clinic. All patients underwent routine second-trimester ultrasound screening and definitive diagnosis was made by fetal magnetic resonance imaging (MRI) in the presence of a suspected anomaly. Results: There were 164 fetal MRIs for fetal abnormalities during the study period and 22 (13.4%) were diagnosed with a PFA on fetal MRI. Indications for fetal MRI included four (18%) with Mega Cisterna Magna, two (9.1%) with rhomboencephalosynapsis, and thirteen (59.1%) with Vermian Hypoplasia-Dandy-Walker variant. Two patients, with neural tube defects and lumbosacral neural-tube defect are still alive. However, iniencephaly was detected in last patient who died in the postnatal period. Conclusion: Diagnosis of PFA abnormalities is complex, and the prognosis in PFA is often unclear. The prognosis is not affected by maternal and fetal factors and allows the recognition of additional accompanying abnormalities. Fetal MRI is an imaging method that can provide retrospective examination and research, especially in pregnancies with poor prognoses. [ABSTRACT FROM AUTHOR]

Objectives: First, to determine the uptake of prenatal exome sequencing (pES) and the diagnostic yield of pathogenic (causative) variants in a UK tertiary fetal medicine unit following the introduction of the NHS England Rapid Exome Sequencing Service for fetal anomalies testing (R21 pathway). Second, to identify how the decision to proceed with pES and identification of a causative variant affect perinatal outcomes, specifically late termination of pregnancy (TOP) at or beyond 22 weeks' gestation. Methods: This was a retrospective cohort study of anomalous fetuses referred to the Liverpool Women's Hospital Fetal Medicine Unit between 1 March 2021 and 28 February 2022. pES was performed as part of the R21 pathway. Trio exome sequencing was performed using an Illumina next‐generation sequencing platform assessing coding and splice regions of a panel of 974 prenatally relevant genes and 231 expert reviewed genes. Data on demographics, phenotype, pES result and perinatal outcome were extracted and compared. Descriptive statistics and the χ‐square or Fisher's exact test were performed using IBM SPSS version 28.0.1.0. Results: In total, 72 cases were identified and two‐thirds of eligible women (n = 48) consented to trio pES. pES was not feasible in one case owing to a low DNA yield and, therefore, was performed in 47 cases. In one‐third of cases (n = 24), pES was not proposed or agreed. In 58.3% (14/24) of these cases, this was because invasive testing was declined and, in 41.7% (10/24) of cases, women opted for testing and underwent chromosomal microarray analysis only. The diagnostic yield of pES was 23.4% (11/47). There was no overall difference in the proportion of women who decided to have late TOP in the group in which pES was agreed compared with the group in which pES was not proposed or agreed (25.0% (12/48) vs 25.0% (6/24); P = 1.0). However, the decision to have late TOP was significantly more frequent when a causative variant was detected compared with when pES was uninformative (63.6% (7/11) vs 13.9% (5/36); P < 0.0009). The median turnaround time for results was longer in cases in which a causative variant was identified than in those in which pES was uninformative (22 days (interquartile range (IQR), 19–34) days vs 14 days (IQR, 10–15 days); P < 0.0001). Conclusions: This study demonstrates the potential impact of identification of a causative variant by pES on decision to have late TOP. As the R21 pathway continues to evolve, we urge clinicians and policymakers to consider introducing earlier screening for anomalies, developing robust guidance for late TOP and ensuring optimized support for couples. © 2022 The 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]

Background: Whole-exome sequencing (WES) is an effective method in the prenatal setting for identification of the underlying genetic etiology of fetal ultrasound abnormalities. To investigate the diagnostic value of WES in fetuses with ultrasound abnormalities that resulted in fetal demise or pregnancy termination. Methods: 61 deceased fetuses with ultrasound abnormalities and normal copy number variation Sequencing were retrospectively collected. Proband-only or trio-WES were performed on the products of conception. Result: Collectively, 28 cases were positive with 39 variants (10 pathogenic, 22 likely pathogenic and 7 variants of uncertain significance) of 18 genes, and the overall diagnostic rate was 45.9% (28/61), of which 39.2% (11/28) were de novo variants. In addition, 21 variants in 11 genes among the positive cases had not been previously reported. The diagnostic yield for definitive findings for trio analysis was 55.9% (19/34) compared to 33.3% (9/27) for singletons. The most common ultrasound abnormalities were skeletal system abnormalities 39.2% (11/28), followed by multiple system abnormalities (17.9%, 5/28) and genitourinary abnormalities (17.9%, 5/28). Conclusion: Our results support the use of WES to identify genetic etiologies of ultrasound abnormalities and improve understanding of pathogenic variants. The identification of disease-related variants provided information for subsequent genetic counseling of recurrence risk and management of subsequent pregnancies. [ABSTRACT FROM AUTHOR]

This study's aim was to determine relevant factors that influence the time interval between first induction and fetal expulsion in late termination of pregnancy (TOP) and TOP after previous feticide for severe fetal malformation with a mifepristone–misoprostol regime. This retrospective study included 913 TOPs from a single tertiary care referral center. In 197 out of 913 TOPs, a previous feticide had been performed due to advanced gestational age (after 22 + 0 weeks of gestation). Induction was accomplished using 600 mg mifepristone followed by 400 μg misoprostol. The interval between first induction with misoprostol and fetal expulsion was examined. Univariate and multivariate logistic regression analysis were used to predict an induction interval of 12 h or less. The median gestational age at induction of labor was 18.9 weeks of pregnancy. In 487 (53.3%) cases women delivered within 12 h; in 344 (37.7%) cases the induction interval was between 12 h and 36 h. In 82 (9%) cases induction took longer than 36 h. Factors that were significantly associated with a delivery duration of <12 h were a lower gestational age at induction (OR 0.87; 95% CI 0.84–0.89; p < 0.001) and a history of at least one previous vaginal delivery (OR 1.57; 95% CI 1.20–2.05; p < 0.001). Factors that had no impact included previous cesarean section, performing feticide before induction and maternal age. Maternal BMI showed a non-significant trend. [ABSTRACT FROM AUTHOR]

To assess the prevalence of congenital anomalies (CAs), chromosomal abnormalities and monogenic diseases among births and terminated pregnancies due to fetal anomalies (TOPFA) in 2020 in Estonia. Up to 2020 no data on prevalence of CAs in Estonia is reported. For retrospective observational study data of all births and terminations of pregnancies after 12th gestational week from (i) the Estonian Medical Birth Registry, (ii) Abortion Registy, (iii) Health Insurance Fund and (iv) hospital records were linked. To calculate the total, live birth, stillbirth and TOPFA prevalence of CAs with 95% confidence intervals (CI), guidelines issued by EUROCAT, European network for the epidemiological surveillance of CAs, were followed. In 2020 the total prevalence of CAs, chromosomal abnormalities and monogenic diseases in Estonia was 378.6 per 10,000 births (95% CI 346.0, 413.5). The most prevalent CAs were heart defects, 163.7 cases per 10,000 births (95%CI 142.5, 187.2). The prevalence of chromosomal abnormalities and genetic diseases was 92.6 per 10,000 births (95%CI 76.8, 110.6), 80% of cases were among TOPFAs. No newborns with major aneuploidies (Trisomy 21, 18, 13, polyploidy) were reported in 2020. Live birth prevalence of CAs, including chromosomal abnormalities and genetic diseases was 258.4 per 10,000 live births (95%CI 231.5, 287.5) and stillbirth prevalence of CAs 0.8 per 10,000 births. The prevalence of CAs and genetic disorders in Estonia is one of the highest compared to prevalence reported by other European regions. It indicates to high population coverage with prenatal diagnostics in Estonia. Low number of major aneuploidies among live births may reflect good detection rate of major chromosomal abnormalities and cultural preferences. [ABSTRACT FROM AUTHOR]

Objective: To assess complication rates of patients undergoing a second‐trimester medical termination for intrauterine fetal demise compared with fetal anomalies. Methods: We performed a retrospective cohort study comparing patients undergoing medical termination for a fetal anomaly versus medical termination for intrauterine fetal demise (IUFD) before 24 weeks of gestation. Data were collected from two urban academic medical centers from 2009 to 2019. Institutional review board approval was obtained from both institutions and patient consent was not required. We included singleton gestations between 14.0 weeks and 23.6 weeks undergoing induction with mifepristone and misoprostol or misoprostol alone. Groups were matched based on gestational age with a 1:1 ratio. The primary outcome was composite complication rate (retained placenta requiring dilation and curettage, suspected infection, hemorrhage, failed induction requiring dilation and evacuation, intensive care unit admission, and readmission). Results: Ninety‐five patients were in each group. The groups differed in patient mean age (fetal anomaly 34 years versus 31 years for IUFD, P = 0.005) and mifepristone pretreatment (fetal anomaly 55% versus IUFD 5%, P < 0.001). Composite complication rate was similar (fetal anomaly 14% versus IUFD 17%), and specific complications did not differ. Conclusion: Second‐trimester medical termination for IUFDs have similar complication rates as those undergoing induction terminations for fetal anomalies. Synopsis: Second‐trimester medical termination for fetal anomalies and fetal demise have similar complication rates. [ABSTRACT FROM AUTHOR]