Explore the vast range of titles available.

Le débat au sujet des violences obstétricales a surgi dans l’espace public et a suscité l’hostilité du corps médical. Pourtant, certains d’entre eux se sont attelés à écouter les revendications des femmes, les ont relus à la lumière des très nombreux travaux et expérimentations connus sur ce thème du « traumatisme obstétrical ». La formation des professionnels et l’état d’esprit de travail en périnatalité doivent évoluer. L’information indispensable à toute forme d’anticipation pour les femmes et les familles doit être systématisée. Les consultations de suivi de grossesse doivent devenir des espaces d’alliance thérapeutique, où les soins font sens pour les femmes. C’est la condition sine qua non pour que le sentiment de sécurité gagne les parents et les professionnels. Cette sécurité se prépare dès la conception, car indispensable à une adaptation de tous et de chacun, indispensable à la mise en œuvre des processus d’attachement chez le petit humain.

Background: Mitochondrial DNA (mtDNA) mutations cause a wide range of serious genetic diseases with maternal inheritance. Because of the high transmission risk and the absence of therapy in these disorders, at-risk couples often ask for prenatal diagnosis (PND). However, because heteroplasmy load (coexistence of mutant and wild-type mtDNA) may vary among tissues and with time, the possibility that a single fetal sample may not reflect the whole neonate impedes prenatal diagnosis of mtDNA diseases. Methods: We performed 13 prenatal diagnoses for the NARP (neurogenic weakness, ataxia, retinitis pigmentosa) m.8993T→G mtDNA mutation (p.Leu156Arg) in the ATP synthase subunit 6 gene. Analyses were performed on chorionic villous (CVS) and/or amniocyte samples carried out at various stages of pregnancy, using a method enabling quantification of low DNA amounts. Results: Maternal mutant loads ranged from 0 to 75% in blood and had no predictive value for the fetus status, except for women with no detectable mutant DNA, whose fetuses were consistently mutation-free. In 8/13 PND, mutant load was <30%. These children are healthy at 2–7 years of age. In 5/13 PND, mutant load ranged from 65 to 100%, and parents preferred to terminate the pregnancies (15–22 weeks of gestation). Single-cell analysis of 20 trophoblastic cells and 21 amniocytes isolated from two affected fetuses found an average mutant load close to the overall CVS and amniocyte mutant load, despite striking intercellular variation. The m.8993T→G mutant loads, assessed in 7, 17, 11, and 5 different tissues from 4 terminations, respectively, were identical in all tissues from a given individual (mean (SD) 78 (1.2)%, 91 (0.7)%, 74 (2)%, and 63 (1.6)% for the 4 fetuses, respectively). Conclusions: Our results indicate that the placental/amniotic mutant loads do reflect the NARP mutant mtDNA load in the whole fetus, even when the sample amount is small, and suggest that heteroplasmy level remains stable during pregnancy, at least after 10 weeks of gestation. Although these data establish the feasibility of PND for this mutation, assessing more precisely the correlation between mutant load and disease severity should further help in interpreting PND results.

L’apport le plus innovant et le plus audacieux de l’EPNP constitue l’intérêt porté au développement de l’enfant entre 4 et 14 semaines. Le professionnel formé au développement du nourrisson pourra observer l’adaptation de l’enfant à sa nouvelle niche écologique et en particulier la gestion de la sensation de pesanteur, sa motricité, les premiers schémas moteurs et les premières coordinations. Il s’agit de repérer, le plus tôt possible, les anomalies neuromotrices transitoires, signes avant-coureurs des troubles du neurodéveloppement, afin de proposer des ajustements physiques et humains appropriés.

La dépression du post-partum maternelle, paternelle, et les troubles du neurodéveloppement de l’enfant sont aujourd’hui considérés comme un enjeu prioritaire de santé publique. Dès les premières semaines en postnatal, l’entretien postnatal précoce (EPNP) permet d’aborder le vécu de la grossesse, de l’accouchement et du retour à domicile pour les deux parents. Une place à part entière est dorénavant faite au père (coparent) : cette ouverture est bénéfique pour le système familial en construction dans une alliance précoce et durable avec les professionnels, permettant l’adhésion des parents aux aides spécifiques proposées au temps de la plasticité cérébrale du bébé.

BACKGROUND: Mitochondrial DNA (mtDNA) mutations cause a wide range of serious genetic diseases with maternal inheritance. Because of the high transmission risk and the absence of therapy in these disorders, at-risk couples often ask for prenatal diagnosis (PND). However, because heteroplasmy load (coexistence of mutant and wild-type mtDNA) may vary among tissues and with time, the possibility that a single fetal sample may not reflect the whole neonate impedes prenatal diagnosis of mtDNA diseases. METHODS: We performed 13 prenatal diagnoses for the NARP (neurogenic weakness, ataxia, retinitis pigmentosa) m.8993T arrow right G mtDNA mutation (p.Leu156Arg) in the ATP synthase subunit 6 gene. Analyses were performed on chorionic villous (CVS) and/or amniocyte samples carried out at various stages of pregnancy, using a method enabling quantification of low DNA amounts. RESULTS: Maternal mutant loads ranged from 0 to 75% in blood and had no predictive value for the fetus status, except for women with no detectable mutant DNA, whose fetuses were consistently mutation-free. In 8/13 PND, mutant load was <30%. These children are healthy at 2-7 years of age. In 5/13 PND, mutant load ranged from 65 to 100%, and parents preferred to terminate the pregnancies (15-22 weeks of gestation). Single-cell analysis of 20 trophoblastic cells and 21 amniocytes isolated from two affected fetuses found an average mutant load close to the overall CVS and amniocyte mutant load, despite striking intercellular variation. The m.8993T arrow right G mutant loads, assessed in 7, 17, 11, and 5 different tissues from 4 terminations, respectively, were identical in all tissues from a given individual (mean (SD) 78 (1.2)%, 91 (0.7)%, 74 (2)%, and 63 (1.6)% for the 4 fetuses, respectively). CONCLUSIONS: Our results indicate that the placental/amniotic mutant loads do reflect the NARP mutant mtDNA load in the whole fetus, even when the sample amount is small, and suggest that heteroplasmy level remains stable during pregnancy, at least after 10 weeks of gestation. Although these data establish the feasibility of PND for this mutation, assessing more precisely the correlation between mutant load and disease severity should further help in interpreting PND results.