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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]

The article focuses on prenatal diagnosis of trisomy 21. It mentions the caregiver must give clear and objective information to pregnant women and couples, that can serve as a support for dialogue between the carer and the pregnant woman, between the carer and the couple and allow future parents to discuss and decide whether to commit or not in the screening process.

Background: Medical termination of pregnancy (MTP) is done because of medical conditions concerning the fetus - i.e. cardiac pathology, central nervous system malformation, genetic disorders. . .- or the mother, without any delay of restriction. In 2019, 6 848 MTP were performed in France. Prenatal diagnosis organization:MTP is part of a process initially of screening and then of prenatal diagnosis through an obstetric ultrasound. Amedical framework is necessary in order to respect all the different stages allowing a global approach for parents. Given its complexity and in order to avoid any drift, MTP is regulated by a legislative framework which has evolved over time. Deciding factors and prenatal diagnosis limits:MTP decision supposes a progressive way starting by the announcement of fetal malformation or severe maternal pathology. Intrinsic and extrinsic factors will have an impact on the patient's reflecting process and will raise many questions concerning prenatal diagnosis limits. Limits concern both the patient and the medical team. They can be due to ethical or eugenic considerations. Other factors such as the understanding of the language, the socioeducational level, the different socio-economic evolutions or even the religion will have a direct impact on the ability of the patient to decide in full awareness of the outcome of the pregnancy. Finally, another limitation relates to the sometimes fine line between voluntary termination and medical termination of pregnancy. Conclusions: MTP is a complex process which leads to wonder about life and death rights both by the request of the couple and by the acceptance of the multidisciplinary team. MTP is legally regulated in a non-exhaustive way, leaving room for the evolution of medicine, thus making it possible to adapt to each situation. MTP is and must remain a last resort for patient management. MTP must constantly be at the center of ethical debates with a continuous questioning to avoid falling in eugenic practices. Hence the importance to maintain a degree of liberty with a rigid framework. [ABSTRACT FROM AUTHOR]

Testimony of a practice by a midwife starting her exercise at the same time as the prenatal diagnosis, the article describes the technical stages and the permanent evolution of a rigorous legislative framework. Hyper-medicalization was imposed exponentially at the same time as the need to face the different emotions and temporalities between teams and couples. The emotional consequences of women and couples forced them to invent adequate relationship support. We had to move forward together, find the right words, give a new place to women and spouses, help professionals so that they can cope with violent emotions, improve transmissions, collect testimonies, invent care models, and finally build adequate training. A collective history has been written over progress and continues: the law, parents, and caregivers. The effectiveness of teamwork, openness to multidisciplinary, the ability to adapt practices on a case-by-case basis, richness of "indirect" work with child psychiatrists, creation of new communication tools to ensure consistency followup are all significant achievements. The path of the prenatal diagnosis, asks the caregivers to remain vigilant and inventive to keep intact the life plans of the parents. The father's place has become obvious and necessary in preventing further difficulties. A recent method of resuming obstetric history, combining medical records and narration by the person concerned, makes it possible to re-mobilize the sequela trauma by resynchronizing concrete data and memory traces in women. [ABSTRACT FROM AUTHOR]

Since its discovery, in the late 1990s, free fetal circulating DNA in maternal plasma has enabled the development of noninvasive prenatal tests. Among tests used in current practice, fetal sex determination and RHD genotyping are diagnostic tests based on the detection of sequences usually absent in maternal genome. Noninvasive detection of trisomy 21 is a high-performance screening test based on chromosome counting by next-generation sequencing. These tests contribute to improve the quality of care by reducing the number of invasive fetal sampling and iatrogenic miscarriages, and allowing better targeting of therapeutic treatment. However, their limits should be taken into account, namely the proportion of fetal circulating DNA in plasma (fetal fraction), the trophoblastic origin of fetal DNA, and the possible interference of maternal genome. [ABSTRACT FROM AUTHOR]

Prenatal diagnosis of disorder of sex development (DSD) aims at defining whether malformation is isolated or not and at determining the etiology depending on clinical background, hormonal and genetic tests. Diagnostic approach must be multidisciplinary. Congenital Adrenal Hyperplasia (CAH) is one of the leading causes of DSD in females. Management of pregnancies at risk is well standardized in France, which is based on fetal sex determination in maternal serum and prenatal treatment with dexamethasone. [ABSTRACT FROM AUTHOR]

Ultrasound plays a key role in prenatal screening for fetal anomalies. Minor anomalies with a good neonatal outcome are identified in 5 to 10% of pregnancies. Even when prenatal diagnostic work up is reassuring, announcing prenatal soft markers may have a substantial psychological impact. Psychodynamic theories hypothesize that the announcement of a fetal anomaly may disrupt the construction of maternal mental representations about the baby and thus impair early interactions. Surveys based on self interviews showed that the announcement of a minor anomaly increases parental anxiety, especially when the outcome is uncertain or when the information is considered unclear by the parents. Clinical studies based on semi-structured interviews showed that the announcement also increases anxiety and depression levels, hampers maternal investment, alters representational pattern and early mother-infant interactions. These phenomena may persist up to 2 months post partum. We discuss guidelines that may reduce the impact of announcing a minor fetal anomaly: 1) training sonographers to announcement; 2) counseling based on medical evidence or expert consensus; 3) identification of families that may benefit from psychological prenatal care during pregnancy and post partum. [ABSTRACT FROM AUTHOR]

Development of more and more effective prenatal diagnosis methods leads to thorny ethical questions. Prenatal diagnosis obstetricians have to care about the growing risk of eugenic drift of prenatal exams. [ABSTRACT FROM AUTHOR]

This paper aims to determine the differences and similarities between eugenics and present time prenatal diagnosis. In the first part, a historical and semantical analysis on two exemplary texts written by the eugenicists Alexis Carrel and Charles Richet, both Nobel Prize, draws the main characteristics of the eugenics. The concept of eugenics is built according to five intrinsic characteristics: approach in terms of population, selection on criteria, focus on reproduction, use of coercion, and influence of the zootechnical practices. Five other characteristics appear rather due to the historical context and could be put aside for the purpose of the comparison. In the second part, the five intrinsic characteristics have been confronted with one of the most developed contemporary prenatal diagnoses, the Down Syndrom detection and diagnosis, with the clear conclusion it is not a eugenic practice. The importance of the individual choice and the absence of coercion, valuable for the great part of the prenatal diagnoses, induce a pronounced difference. In conclusion, even if the ethician Nicholas Agar plaid in defense of a new eugenics, called' liberal eugenics', the contemporary discussions concern more the field of human enhancement or anthropotechnics than the topic of eugenics. Moreover, they concern less diseases or incapabilities than better than normal performances. [ABSTRACT FROM AUTHOR]

Through the development of new technologies, clinical geneticists will therefore have to face new kinds and sources of information. Rapid developments of high throughput technologies let expect that new genetic testing technologies will soon be implemented in clinical laboratories. Sequencing genes generates quantitatively abundance of data and qualitatively complex and heterogeneous information - with different levels of clinical relevance. As data interpretation becomes tougher and unexpected, health related information are more common, emerging technologies will obviously challenge medical practices. Prenatal counselling has to be non-directive, and respectful of parental decisions. As the volume and the complexity of information that need to be integrated in the families decision-making is increasing, individual decisions about prenatal diagnosis will be impracticable.We therefore aim to discuss the potential impact of this evolution on patient/clinician relation and its incidence about clinical practice. At a social level we have to evaluate the consequences regarding the management and the perception of genetic information. As this technology challenges drastically genetic counselling practices, ethical guidelines are urgently needed. [ABSTRACT FROM AUTHOR]

Prenatal diagnosis aims at detecting in utero fetal diseases. It often requires an invasive fetal sampling, whose main complication is the occurrence of miscarriages in 0.5 to 4% of cases. The discovery of free fetal circulating DNA in maternal plasma in the late 1990s has enabled the development of techniques for non-invasive prenatal diagnosis. Fetal sex determination and RHD genotyping are now part of current practices and help to reduce the number of invasive samplings and inappropriate treatments. While the noninvasive diagnosis of monogenic diseases is still at the stage of development, recent technological advances - including next-generation sequencing-have made possible the diagnosis of trisomy 21 from maternal blood, whose contribution remains yet to be defined in patients' management. [ABSTRACT FROM AUTHOR]

Trisomy 12 mosaicism is a rare chromosomal mosaicism witch makes fetal prenatal diagnosis and coverage complicated. We find in literature 36 antenatal detected cases and 6 postnatal; and in only 5 cases the fetal ultrasonography was at the origin of the diagnosis. From a new case diagnosed in prenatal on ultrasound signs at the CHU of Grenoble, and by studying the literature, we attempt to review the relevant ultrasound and phenotypic elements of diagnosis to improve the screening and the genetic counseling. [ABSTRACT FROM AUTHOR]

Array CGH is a new automated exploration method that overcomes cell cultures, and his resolution power is 10 to 1000 times higher than the karyotype one's. In postnatal diagnosis, the study by array CGH of patients with intellectual disabilities and/or congenital malformations led to the identification of about 10% to 15% of chromosomal anomalies that are not visible on the karyotype. Thus, array CGH has become the first-line test for genomic analysis of these patients. The application of array CGH in prenatal diagnosis is more difficult because of the detection of chromosomal anomalies whose clinical impact is difficult to predict. However, advances in knowledge of the genome and the development of appropriate tools (DNA chips) will allow to consider, in the future, the application of this technique as first-line test for the study of chromosomes in prenatal diagnosis. [ABSTRACT FROM AUTHOR]

This article seeks to know the future of 28 singletons and their families, 6 years after twin-twin transfusion syndrome (TTTS) diagnosis. The research was composed of a psychological examination and a clinical interview of both parents. The results show that 78% of the children had normal cognitive evaluations. Goodenough's Drawa-Man-Test shows that 64% of the children's results are under the median. The computed axial tomography (CAT) revealed an inhibition of thought. The interview of both parents shows that the child's future is linked to the elaboration of mourning of the parents concerning his or her twin. [ABSTRACT FROM AUTHOR]

The article presents a reflection on the role of pregnant women in the factors of generalization of prenatal down syndrome screening in France, a question addressed in a preceding article of the same issue. Topics include the increase in the performing of amniocenteses in France, the evolution of screening techniques, and the contribution of pregnant women to this evolution.

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Diastematomyelia is a rare spinal malformation characterized by a cleft in the spinal cord caused by a sagittal osseous or fibrocartilaginous spur. We report a case of prenatal diagnosis of diastematomyelia on a routine second-trimester sonography. Postnatal MRI confirmed the diagnosis, whereas fetal MRI detected a lumbosacral lipoma. Diastematomyelia can be diagnosed antenatally with highly specific sonographic signs. We discuss the interest of antenatal MRI, made in second intention, to specify the diagnosis and the prognosis of this malformation. [ABSTRACT FROM AUTHOR]

Copyright of Néphrologie & Thérapeutique is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Following the recommendations of the French National Authority for Health (HAS) regarding the screening for Down’s syndrome (2007), the french ministry of health has recently published the new related policy (June 23, 2009 modified February 19, 2010). Territorial perinatal networks are strongly involved in the local setup of such an organization. The screening should be offered to any woman, regardless of age. The promoted strategy raises up as a first choice the combination of first trimester ultrasound measurement of the foetal nuchal translucency (NT) and first trimester maternal blood biochemistry (PAPP-A and Free Beta HCG) and as a second choice the integration of NT with second trimester maternal blood biochemistry (AFP and HCG). If the NT is not available, the use of second trimester maternal biochemistry only is recommended. Except in case of missed access to non invasive screening, foetal karyotype should not be supported anymore by the health insurance system after 38 years. A high quality of the first trimester ultrasound is promoted and any ultrasonographer involved in Down’syndrome screening must apply for a program of evaluation of professional practices (EPP) focused on NT and CRL measurements. Each territorial perinatal network delivers an ID number to any sonographer of the territory fitting with the official education and EPP requirements. In order to be allowed to proceed to the biochemical analysis and the calculation of risk, the laboratory must include only NT measurement provided by reports showing the sonographer’s ID number. Recommendations of good practice are provided regarding each step of the program including pre and post screening counselling. [ABSTRACT FROM AUTHOR]

Since 1999, we have been using a strategy for prenatally diagnosed isolated congenital diaphragmatic hernia (CDH), that is based on close collaboration between physicians during the prenatal period and, at birth, an immediate planned care procedure, intended to allow the newborn to reach the stabilisation period and thus enable surgery as soon as possible. The aim of this study is to describe our global planned care procedure and its results, in a nine-year population-based study in east Brittany. All diaphragmatic hernias diagnosed in our region during the period of study (1999–2008) were recorded through the East Brittany Regional Perinatal Network. In cases of prenatally diagnosed isolated CDH, the following planned care was proposed: lung maturation with corticosteroids, planned birth by Caesarian section, immediate intubation and high frequency ventilation without permissive hypercapnia, inhaled nitric oxide (20 ppm) ± intravenous epoprostenol, and anaesthesia without muscle paralysis. Results are expressed as median (25–75th percentiles). Among the 69 CDH reported, 34 cases were isolated prenatally diagnosed CDH and were treated with the planned care procedure, with a survival rate of 30/34 (88%). Two terminations of pregnancy were performed on isolated CDH following parental request. In the group of prenatally diagnosed CDH treated with immediate planned care, 18 lung-to-head (LHR) ratios were recorded (< 1 in four cases, three alive, two of them with liver herniation). The observed/expected LHR ratio was < 35% in six cases (five alive, four of them with liver herniation). Eighteen foetal MRI were performed. Three deceased patients had a foetal lung volume (FLV) of between 16 and 19%. Among surviving babies, five had a FLV < 22%. Planned birth occurred at 37.4 (35.7–39.2) weeks’ gestation. Surgical repair was carried out on 32 of the 34 babies at 29 (4–65) hours of life, in the neonatal intensive care unit (NICU). The diaphragmatic defect was either primarily repaired (18 cases, 56%), repaired using transverse muscle (nine cases, 18%), or repaired with a prosthetic patch (five cases, 16%). The duration of ventilation in the surviving group was 10 (4–30) days. The patients stayed in the NICU for 15 (5–37) days and returned home on day 36 (17–97). No babies required oxygen supply or tracheostomy at discharge. No late death was observed (follow-up: 4.4 (0.8–8.8) years. Three babies required a gastrostomy because of feeding difficulties. Three scolioses were detected. None presented neurological impairment. It appears that the association of prenatal diagnosis and immediate planned care opens new perspectives for the optimum management of pregnancies with isolated CDH. Our strategy is based primarily on close collaboration between physicians during the prenatal period and a strictly codified postnatal care strategy. This strategy allows us to achieve a high survival rate approaching 90% and low morbidity without exceptional procedures, regardless of prognostic criteria. [ABSTRACT FROM AUTHOR]

Copyright of Sciences Sociales et Santé is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The authors report four observations of multiple pregnancies where one of the foetuses was affected by a lethal malformation. The mothers preferred palliative care after birth rather than selective termination of pregnancy (moreover impossible in one case). Three mothers were primiparous and one was multiparous. The delivery occurred by caesarian section at 30, 32, 33 and 37 weeks of gestational age. Four malformed children died after meeting with their parents at 8 minutes, 1 hour and a half, 2 hours, 4 hours after birth. This practice, which is sometimes proposed to the parents in our department, by avoiding any dangerous procedure during the prenatal period, allows parents to meet with the child, and therefore permits emergency bonding between mother and child. It thus may be a strengthening of the parenthood and attachment favoring later mourning. The limits of the perinatal palliative approach are a too big uncertainty on the nature of the malformations and the potential postnatal life expectancy, as well as the fear that the child suffers at birth and later. [ABSTRACT FROM AUTHOR]

Leprechaunism or Donohue syndrome is a very rare malformation (less than one case per million), caused by a genetic insulin resistance. We report a case of a patient whose diagnosis was made at birth in gynecology-obstetrics 'C' University Hospital Ibn Rushd Casablanca. The case arose as a result of a consanguineous marriage. Donohue syndrome is an autosomal recessive disease corresponding to a severe congenital form of extreme insulin resistance syndrome. The total resistance to insulin makes his prognosis always pejorative. Early prenatal diagnosis is possible, leaving the possibility for parents to request a termination of pregnancy for medical reasons. [ABSTRACT FROM AUTHOR]