Termination Of Pregnancy For Fetal Anomaly Research Articles

Population-based surveillance of congenital anomalies over 40 years (1981–2020): Results from the Paris Registry of Congenital Malformations (remaPAR)

IntroductionRegistries of congenital anomalies (CAs) play a key role in the epidemiological surveillance of CAs. The objective was to estimate the prevalence of CAs and proportions of prenatal diagnosis, terminations of pregnancy for fetal anomaly (TOPFA) and infant mortality in the Paris Registry of Congenital Malformations (remaPAR) over 40 years, from 1981 to 2020. Material and methodsremaPAR records all births (live births, stillbirths ≥22 weeks of gestation and TOPFA at any gestational age) with CAs detected prenatally until the early neonatal period. We estimated the prevalence of CAs and proportions of prenatal diagnosis, TOPFA and infant mortality, overall and for a selected group of CAs in 3-year intervals. ResultsThe prevalence of CAs remained stable during the study period: 2.9 % of total births and 2.1 % of live births. Genetic anomalies were the most frequent subgroup (about 23 %), followed by congenital heart defects (about 22 %) and limb defects (about 20 %). Among non-genetic anomalies, the prevalence per 10,000 births was the highest for hypospadias (about 18 %) and the lowest for bilateral renal agenesis (about 1 %). Prenatal diagnoses increased from about 17 % in the 1980s to approximately 70 % in the most recent period (2018–2020), whereas the proportion of early TOPFA <16 weeks of gestation increased from 0.4 % to 14 %. Infant mortality ranged from 0 % for transverse limb reduction defects to 86 % for hypoplastic left heart syndrome. ConclusionThe overall prevalence of CAs was fairly stable in Paris from 1981 to 2020. Prenatal diagnoses substantially increased, accompanied by much smaller increases in TOPFA.

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

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. 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). 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. 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.

Parents’ experiences and need for social support after pregnancy termination for fetal anomaly: a qualitative study in China

ObjectiveThe aim of this study was to explore the experiences and need for social support of Chinese parents after termination of pregnancy for fetal anomalies.DesignA qualitative study using semistructured, in-depth...

Needs for supporting women undergoing termination of pregnancy for fetal anomaly: A phenomenological study based on the cognitive–emotional–behavioral framework

ObjectiveTo determine and describe the needs of women undergoing termination of pregnancy for fetal anomaly (TOPFA) in China. Study designQualitative study with semi-structured interviews. Consolidated Criteria for Reporting Qualitative Studies checklist was used for reporting. SettingThree general hospitals and one special hospital in Changsha, Hunan, China. Participants12 women who had undergone TOPFA and 12 healthcare providers who had experienced in caring for these women. MethodsThis study was based on the cognitive–emotional–behavioral framework (CEBF) of women who had to undergo TOPFA. Twenty-four participants (12 women and 12 healthcare providers) were recruited from two hospitals in China. Semi-structured face-to-face interviews were conducted based on interview guides. ATLAS.ti software was used to encode and analyze data. Qualitative content analysis was also applied. FindingsFour themes emerged: information, emotional, professional psychological, and social supports. Each theme was subdivided into four phases for a detailed description of the temporal order (denial, confirmation, decision-making, and recovery phases) within the framework. Key conclusions and implications for practiceOur study analyzes the four needs of women who underwent TOPFA and the specifics of each need at different phases based on the CEBF. The importance of offering professional psychological support, detailed information, timely emotional support, and comprehensive social support for these women is illustrated. This study contributes to the understanding of women's needs, hence providing a theoretical basis for the construction of supportive programs.

Oesophageal Atresia: Prevalence in the Valencian Region (Spain) and Associated Anomalies

The objective was to determine the prevalence of oesophageal atresia (OA) and describe the characteristics of OA cases diagnosed before the first year of life, born between 2007 and 2019, and residents in the Valencian Region (VR), Spain. Live births (LB), stillbirths (SB), and termination of pregnancy for fetal anomaly (TOPFA) diagnosed with OA were selected from the Congenital Anomalies population-based Registry of VR (RPAC-CV). The prevalence of OA per 10,000 births with 95% confidence interval was calculated, and socio-demographic and clinical variables were analyzed. A total of 146 OA cases were identified. The overall prevalence was 2.4/10,000 births, and prevalence by type of pregnancy ending was 2.3 in LB and 0.03 in both SB and TOPFA. A mortality rate of 0.03/1000 LB was observed. A relationship was found between case mortality and birth weight (p-value < 0.05). OA was primarily diagnosed at birth (58.2%) and 71.2% of the cases were associated with another congenital anomaly, mainly congenital heart defects. Significant variations in the prevalence of OA in the VR were detected throughout the study period. In conclusion, a lower prevalence in SB and TOPFA was identified compared to EUROCAT data. As several studies have identified, an association between OA cases and birth weight was found.

Legal Limits Relaxed: Time to Look at Other Barriers Faced by Women Seeking Termination of Pregnancy for Fetal Anomalies.

Introduction Advancements in prenatal diagnostic techniques have led to an increase in demand for termination of pregnancy for fetal anomalies (TOPFA). While relaxation in the legal gestational age limits across various countries relieves an important barrier, there is a need to identify the reasons that lead to delays in seeking abortion for fetal anomalies, because abortion-related complications increase with gestational age. Methods In this hospital-based qualitative study, antenatal women referred to a tertiary care institute in North India because of major fetal anomalieswere explained about the study. Those women who fulfilled the inclusion criteria were recruited after taking consent. Details of antenatal care and prenatal tests were recorded. An in-depth inquiry was made into the reasons for the delay in prenatal tests, the delay in the decision for abortion, and specific problems that they faced in seeking TOPFA. Results Out of 80 women who met the inclusion criteria and consented to participate, more than 75%had received antenatal care in public healthcare facilities. Less than 50% of women received folic acid in the first trimester while 26% had first contact with healthcare facilities in the second trimester. Only 21 women underwent screening for common aneuploidies. Second-trimester anomaly scan was delayed in 35 women due to women-centered reasons (n = 17) or provider-centered (n = 19) reasons. Only 37.5% of women were counseled about fetal anomalies by their primary care provider. Owing to delay at multiple levels, 40 women (50%) could receive counseling about fetal abnormality for the first time after 20 weeks. These women could not be offered abortion because this study was carried out before theamendments in the Medical Termination of Pregnancy Act in India. The older act allowed abortion up to 20 weeks of gestation. Seventeen women could obtain permission for an abortion from a court of law. Arrangements for travel and stayand dependence on family members were the main problems faced by women seeking TOPFA. Conclusions Delay in diagnosis of a fetal anomaly due to delay in seeking antenatal care, irregular follow-up, and lack of pre-test counseling are the major reasons for the delay in the decision for abortion. This is further compounded by inadequate post-test counseling. Lack of awareness, failure or delay in counseling, need to travel to another facility for abortion, dependence on family members, and financial issues are the major barriers.

Stigma and its influencing factors among women with termination of pregnancy for fetal anomaly: A cross-sectional study

ObjectiveTo investigate the level of stigma and identify its influencing factors among women with termination of pregnancy for fetal anomaly(TOPFA) in China. DesignThis was a cross-sectional study design. Setting and participantsA total of 469 women with TOPFA were recruited from a tertiary care hospital in China using a convenience sampling method. Measurement and findingsWomen with TOPFA participating in the study completed the Demographic Characteristics Questionnaire, Individual Level Abortion Stigma Scale(ILASS), Acceptance and Action Questionnaire- II scale(AQQ- II), Cognitive Fusion Questionnaire scale (CFQ), Multidimensional Perceived Social Support Scale(MPSS), Responses to Stress Questionnaire (RSQ). Women with TOPFA reported moderate levels of stigma(1.49±0.60). Multiple linear regression showed that correlates influencing their stigma included gestational age (β =0.103, P < 0.05), psychological flexibility (β =-0.319, P < 0.01), social support(β =-0.190, P < 0.01), and disengagement coping(β =0.148, P < 0.05). Key conclusion and implication for practiceGestational age and disengagement coping are positive predictors of stigma, but psychological flexibility and social support are negative predictors of stigma. Further attention should focus on developing targeted intervention strategies to improve protective and reduce harmful factors to confront the stigma-related challenges faced by women with TOPFA.

Diagnostic value of fetal autopsy after early termination of pregnancy for fetal anomalies.

BackgroundIn early terminations of pregnancy for fetal anomaly (TOPFA) without identified cytogenetic abnormality, a fetal autopsy is recommended for diagnostic purposes, to guide genetic counseling. Medical induction, which allows analysis of a complete fetus, is generally preferred over surgical vacuum aspiration. Our objective was to assess the diagnostic value of fetal autopsies in these early terminations, relative to the first-trimester ultrasound, overall and by termination method.MaterialsFor this retrospective study at the Port Royal Maternity Hospital, we identified all TOPFA performed from 11 weeks to 16 weeks diagnosed at the first-trimester ultrasound in cases with a normal karyotype. The principal endpoint was the additional value of the autopsy over /compared to the ultrasound and its impact on genetic counseling, globally and by termination method. The secondary objective was to compare the complication rate by method of termination.ResultsThe study included 79 women during period of 2013–2017: 42 with terminations by medical induction and 37 by aspiration. Fetal autopsy found additional abnormalities in 54.4% of cases, more frequently after medical induction (77.5%) than after aspiration (21.4%, p < .01). Genetic counseling was modified in 20.6% of cases, more often after induction (32.5% vs 3.6%, p < .01). The length of stay was significantly longer and a secondary aspiration was required in 16,7% of case in the medical induction group (p < .01).ConclusionMedically induced vaginal expulsion appears preferable and can change genetic counseling for subsequent pregnancies.

Prenatal diagnosis and pregnancy outcome of major structural anomalies detectable in the first trimester: A population-based cohort study in the Netherlands.

Prenatal diagnosis of several major congenital anomalies can be achieved in the first trimester of pregnancy. This study investigates the timing of diagnosis and pregnancy outcome of foetuses and neonates with selected structural anomalies in the Northern Netherlands over a 10-year period when the prenatal screening programme changed significantly, but no first-trimester anatomical screening was implemented. We performed a population-based retrospective cohort study with data from the EUROCAT Northern Netherlands database on pregnancies with delivery or termination of pregnancy for fetal anomaly (TOPFA) date between 2010 and 2019. The analysis was restricted to anomalies potentially detectable in the first trimester of pregnancy in at least 50% of cases, based on previously published data. These included: anencephaly, encephalocele, spina bifida, holoprosencephaly, tricuspid/pulmonary valve atresia, hypoplastic left heart, abdominal wall and limb reduction defects, lethal skeletal dysplasia, megacystis, multiple congenital anomalies. The primary outcome was the timing of diagnosis of each structural anomaly. Information on additional investigations, genetic testing and pregnancy outcome (live birth, TOPFA and foetal/neonatal death) was also collected. A total of 478 foetuses were included; 95.0% (n= 454) of anomalies were detected prenatally and 5.0% (n= 24) postpartum. Among the prenatally detected cases, 31% (n= 141) were diagnosed before 14 weeks of gestation, 65.6% (n= 298) between 14-22 weeks and 3.3% (n= 15) after 22 weeks. Prenatal genetic testing was performed in 80.4% (n= 365) of cases with prenatally diagnosed anomalies, and the results were abnormal in 26% (n= 95). Twenty-one% (n= 102) of pregnancies resulted in live births and 62.8% (n= 300) in TOPFA. Spontaneous death occurred in 15.9% (n= 76) of cases: in-utero (6.1%, n= 29), at delivery (7.7%, n= 37) or in neonatal life (2.1%, n= 10). Major structural anomalies amenable to early diagnosis in the first trimester of pregnancy are mostly diagnosed during the second trimester in the absence of a regulated first-trimester anatomical screening programme in the Netherlands and are associated with TOPFA and spontaneous death, especially in cases with underlying genetic anomalies.

How does stigma influence depressive symptoms among women who underwent termination of pregnancy for foetal anomaly: A path analysis.

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). 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. 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. 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. 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. 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.

Evaluation of neural tube defects from 2014 to 2019 in Turkey

ObjectiveThe aim of this study is to determine the frequency of neural tube defects (NTDs) and to examine the epidemiological characteristics of NTD related deaths in Turkey.MethodsThis nationwide descriptive study was included NTD related infant deaths, termination of pregnancy for fetal anomaly (ToPFA) and stillbirth cases registered in Death Notification System between 2014 and 2019, and patients diagnosed with NTD in the 2018 birth cohort.FindingsIn the 2018 birth cohort, there were 3475 cases of NTD at birth (27.5 per 10,000). The fatality rates for live-born babies with NTD in this cohort were 13.5% at first year, and 15.6% at the end of March, 2022. NTDs were associated with 11.7% of ToPFA cases, 2.5% of stillbirths and 2.8% of infant deaths in 2014–2019. NTD related stillbirth rate was 1.74 per 10,000 births, while NTD related ToPFA rate and infant mortality rate were 0.61 and 2.70 per 10,000 live births respectively. NTD-related stillbirth and infant mortality rate were highest in the Eastern region (3.64 per 10,000 births; 4.65 per 10,000 live births respectively), while ToPFA rate was highest in the North and West regions (1.17 and 0.79 per 10,000 live births respectively) (p < 0.05). Prematurity and low birth weight were the variables with the highest NTD related rates for stillbirths (11.26 and 16.80 per 10,000 birth), ToPFA (9.25 and 12.74) per 10,000 live birth), and infant deaths (13.91 and 20.11 per 10,000 live birth) (p < 0.05).ConclusionNTDs are common and have an important place among the mortality causes in Turkey. Primary prevention through mandatory folic acid fortification should be considered both to reduce the frequency of NTD and related mortality rates.

Abortion Stigma and Its Relationship with Grief, Post-traumatic Stress, and Mental Health-Related Quality of Life After Abortion for Fetal Anomalies.

Background:Despite the prevalence of abortion stigma in the United States, few studies have examined the relationship between stigma and psychological well-being postabortion among women who undergo abortion for fetal anomalies.Materials and Methods:We conducted a cross-sectional study of women who underwent second-trimester abortion for pregnancy complications to assess the association between abortion stigma and psychological outcomes. We asked women to retrospectively report self-judgment and perceived community condemnation at the time of their abortion and evaluated present-day grief, post-traumatic stress, and self-reported mental health. We recruited participants using Facebook, Craigslist, and other public online forums. We used multivariable linear regression to evaluate relationships between abortion stigma and psychological outcomes. In adjusted models, we controlled for covariates that were associated with the outcome at a level of p < 0.1.Results:Adjusted models, including 80 women, revealed that higher self-judgment at the time of abortion was significantly associated with increased postabortion grief (β = 2.5 and p = 0.02). Self-judgment was not associated with statistically significant differences in post-traumatic stress or mental health. There was no association between perceived community condemnation and psychological outcomes.Discussion:Abortion stigma may be associated with increased postabortion grief, but does not appear to be associated with differences in post-traumatic stress or mental health. Investigating how different preprocedure counseling methods can impact self-judgment might inform future interventions aimed at improving psychological outcomes postabortion.Implications for Practice and/or Policy:Abortion providers should consider that women who display signs of self-judgment may be at higher risk for increased grief after pregnancy termination for fetal anomalies or maternal complications.

Congenital heart defects in the fetus and embryological classification: Cladistics and phylogeny

Congenital heart defects (CHD) are a common cause of fetal death and termination of pregnancy for fetal anomaly (TPFA). No series with sufficient cohort, based on description of the anatomic phenotype of CHD discovered in fetal period, have been published until now. To phenotype all the fetal cardiac specimens of the M3 C collection, which counts more than 1500 hearts. A complete morphological examination of each specimen according to segmental analysis was performed by two observers (MH, LH). We determined the main CHD according to the 11 categories and 23 subcategories of the clinical and anatomical classification of CHD and we coded the associated lesions with IPCCC codes. These codes were recorded in a database including photographs for each heart. To date, we have analyzed 758 cardiac specimens. Among them, 77 were normal (10.2%). The most frequent groups of CHD were: anomalies of the ventricular outflow tracts (VOT, 34%), functionally univentricular hearts (FUV, 24%) and anomalies of atrioventricular junctions and valves (AAVJV, 15%). As an example of a phylogenetic analysis starting from a specific anomaly, a right aortic arch was most frequent in double outlet right ventricle with subaortic ventricular septal defect (VSD) (39%), tetralogy of Fallot group (24%) and outlet VSD (9%). It was almost absent in other anomalies of VOT and other CHD ( Fig. 1 ). These first results confirm the predominance of the anomalies of the VOT. The high rate of FUV and AAVJV underlines the selection bias related to the high number of TPFA for severe CHD or chromosomal abnormality. This anatomical phenotyping of the collection should allow us to identify rare associations of malformations and could change our current way of grouping some phenotypes together. This could help us, by integrating current embryological knowledge, to elaborate a cladistics analysis of CHD, starting from one part of the phenotype.

Psychological analysis of women’s experiences of late pregnancy termination for fetal anomaly

AIM: The aim of this study was to conduct a psychological analysis and summarize information on womens experiences of late pregnancy termination for fetal anomaly. MATERIALS AND METHODS: The study included 105 patients aged 19 to 43 years who experienced late pregnancy termination for fetal anomaly after 22 weeks of gestation and who received psychological support during their stay in the maternity hospital. The method of data collection involved structured clinical interview with subsequent analysis and summarizing the information received. The data obtained were compared with the literature, thus leading to a conclusion about long-term psychological consequences after late pregnancy termination. RESULTS: The general psychological patterns of womens experiencing of several consequential steps of late pregnancy termination were revealed: during the primary diagnosis, in the decision-making process, during the feticide procedure, during delivery, and in the postpartum period. The tasks of psychological support were formulated; the types of reasons for termination decision were described; the key influence of the psychological status of the fetus on the subjective character of experience was determined. The analysis of foreign issues was made and faraway traumatic consequences of late pregnancy termination for the woman and her family were depicted. CONCLUSIONS: Late pregnancy termination is a traumatic choice for a woman and her family and it has medical, psychological, ethical and legal contexts. Psychological maintenance can optimize the patients contact with the medical staff during her stay in the maternity hospital. Psychologically conceived experience ensure a constructive attitude towards the future pregnancy and its positive conditions.

Psychological analysis of women’s experiencing of late pregnancy termination for fetal anomaly

Goals. Psychological analysis and summarizing of information of womens experiencing of late pregnancy termination for fetal anomaly.&#x0D; Participants and methods. 105 participants from 19 to 43 years old, experienced late pregnancy termination for fetal anomaly after 22 gestation weeks, which needed the psychological support during being in maternal hospital. Method of data collection is structured clinical interview with following analysis and summarizing information that had been received. It was also performed many other authors data analysis. This led us for the conclusion about psychological prophylactics long-term consequences after late pregnancy termination.&#x0D; Results. It was revealed general psychological mechanisms of womens experiencing of several consequential steps of process of pregnancy termination: primary diagnosis, process of decision- making, during the feticide procedure, delivery and postpartum period. Tasks of psychological support formulated; types of reasons for termination decision were described, influence of psychological status of fetus for character of experience. The analysis of foreign issues was made and the result was description of faraway traumatic consequences of late pregnancy termination for woman and her family.&#x0D; Conclusions. Late pregnancy termination is traumatic choice for woman and her family and it has medical, psychological, ethical and legal context. Psychological maintenance can optimize patients contact with medical stuff in period she stays in maternity hospital. Psychologically conceived experience ensure constructive attitude to the future pregnancy and its positive conditions.

Neonatal malformations: organization of information flows in the S. Anna Hospital of Torino

Abstract Background Congenital malformations (CMs) represent a serious public health problem, both in terms of size (3% newborns/year) and severity of outcomes. The surveillance activity carried out by the Registers is an important tool for monitoring the frequency of events, to evaluate etiology, support research and public health actions. The aim is to evaluate the organization and the information network related to the diagnosis of malformation in the S. Anna presidium. Methods the retrospective study analyzed all newborns with one or more CM and all cases of TOPFA (Termination of Pregnancy for Fetal Anomaly) for CMs in the period 01/2020 - 01/2021. A forward-looking pilot study was then set up to assess the impact on the quality of data collection through the introduction of a MC sheet. Results 510 cases of CMs were found in live births, 180 in TOPFA for CMs and 4 in stillbirths. The duration of hospitalizations averaged 14.5 days (σ 36.56), with a median of 4 days. In the CMs group, an average maternal age of 33.40 years (σ 9.32), a median of 33 years and a mode of 33 years were calculated, in the TOPFA group an average maternal age of 34 years (σ 6.34), a median of 34 years and a mode of 32 years. In the live births group, 701 maternal diagnoses were detected, categorized and compared with the various national reports. The MC Sheet was compiled for 60 patients, 16 (4.30%) patients before the introduction of the sheet (01/2020 - 09/2020) and 44 (30.43%) after its introduction (10/2020 - 01/2021). Regarding the assessment of the proper use of ICD9CM an adequacy of 78% was observed in the first group vs one of 100% in the second. Conclusions Our preliminary data assess the need for a Regional registry, for a comparison with the main national and regional sources available (also with a view to possible participation in the EUROCAT and ICBDSR registers) and for regional health planning. Key messages The study underlines the need for a Regional Registry of congenital malformations. The clinical file is not always a complete source for analysing data on congenital malformations.

Congenital heart defects in the foetus and embryological classification: Cladistic et phylogeny

Congenital heart defects (CHD) are a common cause of fetal death and termination of pregnancy for fetal anomaly (TPFA). No series with sufficient cohort, based on description of the anatomic phenotype of CHD discovered in fetal period, have been published until now. The aim of our study is to phenotype all the fetal cardiac specimens of the M3 C collection, which counts more than one thousand hearts. A complete morphological examination of each specimen according to segmental analysis was performed by two observers (MH,LH). We determined the main CHD according to the 11 categories et 23 sub-categories of the clinical and anatomical classification of CHD [2] and we coded the associated lesions with IPCCC codes according to the ICD-11 CHD classification [1] . These codes were recorded in a database created for that purpose including photographs for each heart. To date, we have analyzed 758 cardiac specimens. Among them, 77 were normal hearts (10,2%). The most frequent main groups of CHD were: anomalies of the ventricular outflow tracts (VOT) (231, 34%), functionally univentricular hearts (FUV) (165, 24%) and anomalies of atrioventricular junctions and valves (AVJV) (106, 15%). The most frequent associated lesions were: anomalies of the valves (all valve type; 409, 60%), ventricular hypoplasia (265, 39%), ventricular septal defects (233, 34%), interatrial communications (204, 30%), anomalies of the arterial duct (152, 22%). These first Results confirm the predominance of the anomalies of the VOT. The high rate of FUV and anomalies of AVJV underlines the selection bias related to the high number of TPFA for severe CHD or chromosomal abnormality. This anatomical phenotyping of the collection should allow us to identify rare associations of malformations and could change our current way of grouping some phenotypes together. This could help us, by integrating current embryological knowledge, to elaborate a cladistic analysis of CHD.

The Medical Process in Pregnancy Terminations for Fetal Anomaly: An Analysis of Counselling and Bereavement

Pregnancy termination for fetal anomaly (TOPFA) is a possible outcome of a pregnancy complicated by a fetal anomaly detected during routine prenatal care. Limited research is available on the quality of the counselling offered to women, in terms of enabling them to make an informed decision. The goal of this descriptive cohort study was to examine the medical process offered to a cohort of 151 women who underwent TOPFA in 2018 in a single tertiary mother and child hospital to identify areas for potential quality improvement. Statistical analysis comprised basic statistical tests, Pearson's χ2 test, and logistic regression. Counselling was evaluated by two fetal health specialists. The counselling process was found to be minimal in 42% of cases. Counselling referrals to pediatric specialists were made in 26% of cases, with many potential explanations for this finding. Complicated bereavement was present in 39% of cases. Risk factors for complicated bereavement were explored and were found to be insufficient social support (odds ratio [OR] 6.5; 95% CI 2.0-21.0, P < 0.001), history of a mood disorder (OR 3.4; 95% CI 1.3-8.8, P < 0.01), and history of another TOPFA (OR 6.2; 95% CI 1.2-31.0, P = 0.01). Viewing the fetus after termination was not correlated with a significant reduction in complicated bereavement. The evaluation of the counselling as minimal in 42% of cases and the high prevalence of complicated bereavement call for quality improvement in the process for women who undergo TOPFA. Clinicians should be able to screen women most at risk for complicated bereavement to best orient preventive care.

Congenital heart defects in the foetus and embryological classification: Cladistic et phylogeny

Congenital heart defects (CHD) are a common cause of fetal death and termination of pregnancy for fetal anomaly (TPFA). No series with sufficient cohort, based on description of the anatomic phenotype of CHD discovered in fetal period, have been published until now. The aim of our study is to phenotype all the fetal cardiac specimens of the M3C collection, which counts more than one thousand hearts. A complete morphological examination of each specimen according to segmental analysis was performed by two observers (MH, LH). We determined the main CHD according to the 11 categories and 23 sub-categories of the clinical and anatomical classification of CHD and we coded the associated lesions with IPCCC codes according to the ICD-11 CHD classification. These codes were recorded in a database created for that purpose including photographs of each heart. To date, we have analyzed 697 cardiac specimens. Among them, 64 were normal hearts (9%). The most frequent main groups of CHD were: anomalies of the ventricular outflow tracts (VOT) (197, 28%), functionally univentricular hearts (FUV) (164, 24%), anomalies of atrioventricular junction and valves (AVJV) (95, 14%). The most frequent associated lesions were: anomalies of the valves (all valve type; 442, 63%), ventricular septal defects (241, 35%), interatrial communications (198, 28%), ventricular hypoplasia (172, 25%), anomalies of the arterial duct (152, 22%). These first results confirm the predominance of the anomalies of the VOT. The high rate of FUV and anomalies of AVJV underlines the selection bias related to the high number of TPFA for severe CHD or chromosomal abnormality. This anatomical phenotyping of the collection should allow us to identify rare associations of malformations and could change our current way of grouping some phenotypes together. This could help us, by integrating current embryological knowledge, to elaborate a cladistic analysis of CHD.

The impact of genetic counseling on women's grief and coping following termination of pregnancy for fetal anomaly.

Pregnancy termination for fetal anomaly (TFA) is a unique experience that can cause women to develop long-term complicated grief. Although a woman's experience with her healthcare providers has been previously identified as an important factor in coping, studies have shown that many women report their health care as lacking to some extent. Given the overlap in women's needs and the practice scope of a genetic counselor (GC), this study aimed to examine how genetic counseling may impact coping and explore women's expectations of GCs pre- and post-TFA. An online survey, which included the brief COPE and the short version of the Perinatal Grief Scale, was distributed among private online support groups. Appropriate statistical analysis tools, such as the Wilcoxon rank-sum and t test, were utilized for quantitative analysis of the 124 responses, and inductive content analysis was utilized for qualitative analysis. Of those who underwent TFA within the last two years, women who saw a GC utilized active coping, planning, and positive reframing significantly more than women who did not see a GC (p=0.001, p=0.031, p=0.027, respectively). GCs were perceived to have a positive impact on coping when providing information, objective care, emotional support, support resources, and follow-up care; these practices encouraged confidence in their personal decision-making and gave women hope for the future. This study not only identified key counseling roles for GCs prior to a TFA, but also demonstrated that genetic counseling prior to TFA may be beneficial to coping. Further studies are warranted to explore the needs of a more diverse population and to identify appropriate genetic counseling training methods to support women pursuing TFA.