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The legal framework governing bioethics in France appeared in 1994. The first laws relating to bioethics concerned respect for the human body, the gift and use of elements and products of the human body, medically assisted procreation (MAP) and prenatal diagnosis. In 2004, a new law came to revise the previous one and in 2011, the law of July 7 provided for a revision of the law by Parliament within a maximum period of 7 years, preceded by the organization of States General . The objective was to take into account advances in science and to better meet the expectations of society. In 2019, a new bill was presented by the Government and after much debate, on August 2, 2021, the new law relating to bioethics was promulgated and modified, among other things, the modalities of MAP and donation of gametes. [ABSTRACT FROM AUTHOR]

Résumé: Les prélèvements fœtaux concernent encore 6 à 7 % des grossesses en France. Si dans la majorité des cas, le prélèvement ne présente pas de difficulté pour un opérateur entraîné, il peut arriver que des circonstances particulières liées au terrain maternel (traitements anticoagulants, métrorragies, fièvre, etc.) rendent le geste plus difficile à réaliser. À partir d’un questionnaire adressé aux centres pluridisciplinaires de diagnostic prénatal français et d’une revue de la littérature, nous établissons une conduite à tenir pour des prélèvements fœtaux dans ces différentes circonstances. [ABSTRACT FROM AUTHOR]

Summary: Objectives: To review clinical and epidemiologic data of orofacial clefts and to evaluate the efficacy and the impact of prenatal diagnosis. Material and methods: A population-based retrospective study was carried out on data from the Congenital Malformations of Alsace Registry (France) between 1995 and 2006. Results: A total of 321 orofacial clefts were recorded (overall prevalence, 2.1 per 1000), divided into cleft lip (CL) or cleft lip palate (CLP) (204 cases) and cleft palate (117 cases). The cleft lip and cleft lip palate CL±P sex-ratio was 1.87, whereas the CP sex-ratio was 1. CLs were more often unilateral than CLPs (79% versus 59%). CLs were unilateral in 79% of the cases (60/76), bilateral in 20% of the cases (15/76), and median in 1% (1/76); 55% of the unilateral CLs were right and 45% were left. CLPs were unilateral in 59% of the cases (76/128), bilateral in 39% of the cases (50/128), and median in 2% (2/128); 45% of the unilateral CLPs were right and 55% were left. The 117 CPs were divided into 50 clefts of the total palate (43%) and 67 clefts of the posterior palate (57%); 25 cases (21%) of Pierre Robin sequence were collected. Sixty-six percent of CL±P (134/204) were associated with other congenital anomalies, including chromosome abnormality in 31 cases and identified monogenic syndrome or association in 12 cases. The most frequent chromosome abnormalities were 16 cases of trisomy 13 and 7 cases of trisomy 18. No cases of 22q11.2 microdeletion or duplication were detected among CL±P. Monogenic syndromes were identified in 6% (12/204) of CL±P cases: Van der Woude syndrome (2 cases); CHARGE syndrome (2 cases); ectrodactyly, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome (2 cases); branchiooculofacial (BOF) syndrome (1 case); Treacher-Collins syndrome (1 case); Nager syndrome (1 case); Goldenhar syndrome (1 case); holoprosencephaly spectrum (1 case); and Meckel syndrome (1 case). Forty-two percent of CPs (49/117) were associated with other congenital anomalies; chromosome abnormality was identified in 12 cases and monogenic syndrome was diagnosed in 14 cases. The most frequent chromosome abnormality was 22q11 microdeletion (5 cases). Monogenic syndromes were recognized in 12% of the CP cases (14/117): fragile X syndrome (2 cases), Meckel syndrome (2 cases), Orofaciodigital syndrome type I (OFD1) (1 case), Stickler syndrome (1 case), Larsen syndrome (1 case), Kniest syndrome (1 case), Cornelia de Lange syndrome (1 case), thanatophoric dysplasia (1 case), other unknown bone chondrodysplasia (1 case), Fryns syndrome (1 case), fetal akinesia sequence (1 case), and Silver-Russel syndrome (1 case). Fifty-two percent of CL cases (106/204) were prenatally diagnosed. An increasing tendency was observed between the 1995–2000 and 2001–2006 periods with a detection rate increasing from 47% to 56%. During the whole period, only 1 case of CP was prenatally diagnosed. Eighty-two percent of all cases (263/321) were livebirths; 8 stillbirths were reported (2%); 50 syndromic or associated cases (16%) led to medical abortion (no termination of pregnancy was performed for isolated cleft). Conclusion: Orofacial clefts are a frequent malformation with a total prevalence of 2.1 per 1000 total births. Sonbographic prenatal diagnosis of orofacial clefts remains difficult with a mean detection rate about 50% for CL±P and is extremely rare for CP. Associated malformations and genetic syndromes are frequent and require a systematic survey. This study also highlights the different pathogenic background of CL±P compared to CP, regarding the sex-ratio and the proportion and type of associated malformations. [Copyright &y& Elsevier]

Summary: Objectives: To assess overall and malformation-specific trends in the prevalence and prenatal diagnosis of congenital anomalies in the Parisian population. Methods: The Paris Registry of Congenital Malformations is population-based and since 1981 has registered all cases with structural birth defects or chromosomal anomalies in the Parisian population. The total and livebirth prevalence and the proportion of cases with prenatal diagnosis were calculated for all anomalies and 20 malformations selected based on their higher frequency and their impact on health outcomes. Results: The overall prevalence was 3.30% (95% CI 3.27–3.33), and the livebirth prevalence 2.42% (95% CI 2.39–2.45). The proportion of cases diagnosed prenatally increased from 16.5% (95% CI 14.1–19.1) in 1983 to 70.7% (95% CI 68.3–73.1) in 2007. Terminations of pregnancy for fetal anomaly (TOPFA) increased from 8.8% (95% CI 7.0–10.8) in 1983 to 35.6% (95% CI 33.1–38.1) in 2007. These results varied substantially for the 20 congenital anomalies studied. Conclusion: We found an increase in the overall prevalence of all anomalies, especially for chromosomal abnormalities. The observed increase is at least to a large extent due to trends in delayed childbearing and an increase in both pre- and postnatal diagnosis of congenital anomalies in our population. [Copyright &y& Elsevier]

Abstract: Objective: To evaluate the caregivers’ opinions regarding decision-making in termination of pregnancy (TOP) for fetal anomaly. Material and methods: Questionnaire survey using a semi-structured survey based on visual analogue scales, sent to all multidisciplinary centres for prenatal diagnosis in France. Answers were received from 26 centres nation-wide. Results: Response rate was 39% (213 responses received over 550 questionnaires sent). Fifty-five percent of respondents were women, 90% physicians, 7,5% midwives. A vast majority (69.8%) believes that their own convictions play a bigger role in decision in real practice than in their ideal. The major decisional factors in decision-making for TOP are: the long-term prognosis of the anomaly, a specialized opinion on its curability, the quality of the information given to the future parents, their expressed opinion, the existence of a multidisciplinary decision, the ability of the future parents to understand the medical data, the obtention of a medical consensus, the proof level of the medical information. For only 55% of the respondents, the current legal framework is adequate to manage the situations that result from prenatal diagnostic practices today. The question of late third-trimester TOP raises ethical debate: over a third (37%) see no ethical difference between TOP and withdrawal of care during the neonatal period; the majority (48% versus 43%) feel that ethically speaking a neonate and a foetus at 39weeks gestational age (GA) should not be treated differently; 37% of the respondents feel that current practice is likely to lead to eugenism. Discussion and conclusion: As far as TOP is concerned, the huge discrepancies in responses from the professionals highlight the ongoing ethical debate, especially concerning the concept of informed choice in TOP, which we believe should be entirely revisited. [Copyright &y& Elsevier]

Abstract: Objectives: The purpose of this study is to describe the diagnosis, the care and the prognosis of the fetuses with an antenataly diagnosed megacystis. Patients and methods: Six year retrospective study about 46 cases of megacystis (26 diagnosed during 1st trimester; 14 during 2nd trimester; 9 during 3rd trimester) referred in the prenatal fetal medicine unit of the Femme–Mère-Enfant hospital in Lyon (France). Results: The main aetiology is urethral occlusion, particularly for megacystis discovered during the 1st and the 2nd trimesters. Twenty-two terminations of pregnancy were performed (47.8%) and 6 pregnancies arrested spontaneously (13%). Eighteen children were born alive, but 2 died in neonatal period. Finally, 16 children survived (34.8%). Chromosomal abnormalities are frequent (22%). Discussion and conclusion: Antenatal discovery of a megacystis is a complex situation, and often of poor fetal prognosis. It requires a multidisciplinary approach to allow the concerned couple to be determined on the best care of this pregnancy. [ABSTRACT FROM AUTHOR]

Abstract: Objectives: Maternity has been denied to blind women for a long time, and is still often criticized or not understood in a very demanding social environment for the future mothers. Our objective is to describe the follow-up of the pregnancies and the childbirth of the visual handicapped women within the framework of a dedicated network of care liking with the Maternal and Infant Protection Unit and the paediatric ward. Patients and method: We studied a retrospective series of 18 women blind or amblyopic followed up at the at the institut de puériculture et périnatologie (Paris, France) from 2001 to 2006. We report the social and morphological characteristics women, the characteristics of the monitoring of their pregnancy and childbirth and the approach of antenatal care. The results were compared with the data of the average French population studied in the perinatal investigation of 2003. Results: The pregnancies proceeded without particular obstetrical complications and lead to the birth of 20 healthy children. The population of the women is older than the French average, of higher initial weight. There is no increase in the number of consultation and ultrasound scans. The characteristics of the follow-up are discussed. Discussion and conclusion: Each maternity team should be able to follow and deliver women with a visual defect. Some specificity however needs to be helped along for these future mothers. The training of the professionals, the work within a dedicated network and the adjusting of our methodologies not only come to improve the pregnancies but also to enrich our practices. [Copyright &y& Elsevier]

Résumé: La loi no 2002-303 du 4 mars 2002 n’est pas applicable à une demande formulée après son entrée en vigueur mais se rapportant à des faits qui lui sont antérieurs. En conséquence, il incombait à la cour d’appel de rechercher si les divers manquements reprochés au gynécologue obstétricien constituaient ou non une faute simple. [Copyright &y& Elsevier]

Summary: Routine prenatal ultrasound screening for the detection of possible cardiopathy has existed in Upper Normandy since 1987, including the continuous training of obstetric ultrasonographers. We evaluated the profitability and the expected benefit of prenatal detection in a nonselected population in this region. Methods: A retrospective study was undertaken from October 2003 to September 2007 in the cardiopediatric units of Upper Normandy. All fetuses and infants with a diagnosed major cardiac defect were classified into 3 groups: no possibility of anatomic surgical repair (group 1), risk of early decompensation (group 2), and anatomic surgical repair possible but without early decompensation (group 3). Prenatal and postnatal mortality and morbidity were reported. Results: One hundred and sixty-five major congenital heart defects were detected prenatally and 68 postnatally. The prenatal detection rate was 71% (93, 53, and 77% for groups 1, 2, and 3, respectively; p <0.0001). The rate of pregnancy termination was 92, 17, and 45%, respectively. The mortality rate tended to be higher in the undiagnosed group of urgent neonatal heart cases (10.6% vs 4.4%). The prenatal prevalence of abnormal karyotype was 21% and was 11.5% for congenital malformation syndrome. Conclusion: Prenatal detection of major cardiac defects has continued to attain high success in Upper Normandy. However, 50% of urgent neonatal heart cases often remain undiagnosed, and therefore the neonatologist must treat this patient population with particular care. Prenatal diagnosis can reduce preoperative mortality and morbidity of cardiopathy with a risk of early decompensation with specific neonatal intensive care. [Copyright &y& Elsevier]

Summary: Aim of the study: To evaluate the impact of prenatal diagnosis on the epidemiology and outcome of children with posterior urethral valves (PUV), considering that today termination of pregnancy may be proposed in the most severe cases. Patients and methods: Forty-three cases of patients with PUV were diagnosed between 1998 and 2007 in the Languedoc-Roussillon region. In this study, we detailed the prenatal data and postnatal outcome of those patients with a mean follow-up period of 7.6 years. Results: Medical interruption of pregnancy was performed in 15 severe cases. One death in utero was also observed. Twenty-seven patients were managed postnatally and one child died during the neonatal period because of lung hypoplasia. For the 26 remaining patients at the end of the follow-up period, 5 had mild renal insufficiency with a creatinine clearance calculated with the Schwartz formula of less than 80ml/min/1.73m2. One reached end-stage renal failure at the age of 7 years. Proteinuria and hypertension were rare. Discussion and conclusion: Today, because of the increase in medical termination of pregnancy in the most severe cases, most of the children born alive with PUV experienced a better renal prognosis when compared with previous data. Prenatal diagnosis and therapeutic progress significantly modified the epidemiology and outcome of this disease. Nevertheless, the best predictor of renal outcome remains renal function at 1 year of age. [Copyright &y& Elsevier]

Presymptomatic testing for Huntington disease has been available for 15 years. The possibility of determining the genetic status of an at-risk person for the disorder which runs in his or her family raises questions because of the absence of preventive treatments. In addition, being carrier does not allow to determine when the disease starts and how it will evolve, impairing the possibilities of planning the future. A pluridisciplinary approach to predictive testing with care before, during and after the test taking into account the medical, social and psychological aspects of the disease is good practice. At the present time, only a minority of at-risk individuals request presymptomatic testing and almost 50% do not pursue until the results. The consequences of the test may be harmful, more frequently after an unfavorable than after a favorable result. Motivations and the outcome in terms of request for prenatal testing after a carrier result are known today and the number or prenatal testing remains very limited. Preimplantation genetic testing is an alternative for couples who knows or do not their own genetic status. We report our experience in two French centres: Paris for presymptomatic and prenatal testing and Strasbourg for preimplantation diagnosis. [Copyright &y& Elsevier]

Abstract: Ultrasonography has become an indispensable tool in prenatal care providing a throughout screening of the morphological abnormalities of the foetus. The examination of the upper limbs is now part of a routine screening checklist available in France since 2005. Recent progress in past years has focused on the early detection of reductional anomalies. As early as the first trimester scan, the three segments of the upper limb are apparent and transversal anomalies can be easily detected. Early diagnosis of malformations may lead to ethical considerations since women may request for medical termination of pregnancy. Apart from transversal anomalies of the limb which remain most of the time accidental, genetic syndromes may also lead to longitudinal reductions of the upper limb. In such cases, ultrasound may be helpful in genetic counselling by detecting other associate malformations. The search for associate malformations in favour of a genetic syndrome is therefore mandatory before referral to a prenatal consultation with the surgeon. Three-dimensional ultrasound and multi detector computed tomography (MDCT) are being increasingly used as additional procedures to improve diagnosis and long-term prognosis. [Copyright &y& Elsevier]