Prenatal Ultrasound Screening: False Positive Soft Markers May Alter Maternal Representations and Mother-Infant Interaction

International audienceBackground : In up to 5% of pregnancies, ultrasounds screenin detects a " soft marker" (SM) that places the foetus at risk for a severe abnormality. In most cases, prenatal diagnostic work-up rules out a severe defect. We aimed to study the effects of false positive SM on maternal emotional status, maternal representations of the infant, and mother-infant interaction. Methology and Principal Findings : Utilizing an extreme-case prospective case control design, we selected frome a group of 244 women undergroing ultrasound, 19 pregnant women whose foetus had a positive SM screening and reassuring diagnostic work up, and 19 controls without SM matched for age and education. In the third trimester of pregnancy, within one week after delivery, and 2 months postpartum, we assessed anxiety, depression and maternal representations; Mother-infant interactions were videotaped during feeding within one week after delivery and again at 2 months postpartum and coded blindly using Coding Interactive behavior (CIB) scales. Anxiety and depression scores were significantly higher at alla ssessment points in the SM group. Maternal representations were also observd in the SM groyp. These dyads showed greater dysregulation, lower maternal sensitivity, higher maternal intrusive behaviour and higher infant avoidance. Multivariate analysis showed that maternal representation and depression at third trimester predicted mother-infant interaction.Conclusion : False positive ultrasound screenings for SM are not benign and negatively affect the developping maternal-infant attachment. Medical efforts should be directed to minimize as much as possible such false diagnoses, and to the psychological adverse consequences

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: an unusual presentation of tubulinopathy

International audienceTubulinopathies are increasingly emerging major causes underlying complex cerebral malformations, particularly in case of microlissencephaly often associated with hypoplastic or absent corticospinal tracts. Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. We report on an early foetal case with FADS and microlissencephaly due to TUBB2B mutation. Neuropathological examination disclosed virtually absent cortical lamination, foci of neuronal overmigration into the leptomeningeal spaces, corpus callosum agenesis, cerebellar and brainstem hypoplasia and extremely severe hypoplasia of the spinal cord with no anterior and posterior horns and almost no motoneurons. At the cellular level, the p.Cys239Phe TUBB2B mutant leads to tubulin heterodimerization impairment, decreased ability to incorporate into the cytoskeleton, microtubule dynamics alteration, with an accelerated rate of depolymerization. To our knowledge, this is the first case of microlissencephaly to be reported presenting with a so severe and early form of FADS, highlighting the importance of tubulin mutation screening in the context of FADS with microlissencephaly

Prevalence and incidence of postpartum depression and environmental factors: the IGEDEPP cohort

Background: IGEDEPP (Interaction of Gene and Environment of Depression during PostPartum) is a prospective multicenter cohort study of 3,310 Caucasian women who gave birth between 2011 and 2016, with follow-up until one year postpartum. The aim of the current study is to describe the cohort and estimate the prevalence and cumulative incidence of early and late postpartum depression (PPD). Methods: Socio-demographic data, personal and family psychiatric history, as well as stressful life events during childhood and pregnancy were evaluated at baseline. Early and late PPD were assessed at 8 weeks and 1 year postpartum respectively, using DSM-5 criteria. Results: The prevalence of early PPD was 8.3% (95%CI 7.3-9.3), and late PPD 12.9% (95%CI 11.5-14.2), resulting in an 8-week cumulative incidence of 8.5% (95%CI 7.4-9.6) and a one-year cumulative incidence of PPD of 18.1% (95%CI: 17.1-19.2). Nearly half of the cohort (N=1571, 47.5%) had a history of at least one psychiatric or addictive disorder, primarily depressive disorder (35%). Almost 300 women in the cohort (9.0%) reported childhood trauma. During pregnancy, 47.7% women experienced a stressful event, 30.2% in the first 8 weeks and 43.9% between 8 weeks and one year postpartum. Nearly one in five women reported at least one stressful postpartum event at 8 weeks. Conclusion: Incident depressive episodes affected nearly one in five women during the first year postpartum. Most women had stressful perinatal events. Further IGEDEPP studies will aim to disentangle the impact of childhood and pregnancy-related stressful events on postpartum mental disorders.Comment: 34 pages, 6 table