[Medical termination of pregnancy for maternal psychosocial distress]. / L'interruption médicale de grossesse pour détresse maternelle psychosociale.

Medical termination of pregnancy when decided for maternal psychosocial distress is a new issue facing maternity field teams. Multidisciplinary work is required, as well as respect for the patients' temporality. The decision is collegial, estimating the least traumatic impact possible for them over the long term. The ethical principles of beneficence and non-maleficence guide the work of the team and the evaluation of the psychiatrist in this context.

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.

PURPOSE: Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. The purpose of our research was to establish the diagnostic yield using chromosomal microarray (CMA) and exome sequencing (ES) in cases with prenatally diagnosed isolated (iAbnCC) and nonisolated AbnCC (niAbnCC). METHODS: CMA and prenatal trio ES (pES) were done on 65 fetuses with iAbnCC and niAbnCC. Only pathogenic gene variants known to be associated with AbnCC and/or intellectual disability were considered. RESULTS: pES results were available within a median of 21.5 days (9-53 days). A pathogenic single-nucleotide variant (SNV) was identified in 12 cases (18%) and a pathogenic CNV was identified in 3 cases (4.5%). Thus, the genetic etiology was determined in 23% of cases. In all diagnosed cases, the results provided sufficient information regarding the neurodevelopmental prognosis and helped the parents to make an informed decision regarding the outcome of the pregnancy. CONCLUSION: Our results show the significant diagnostic and prognostic contribution of CMA and pES in cases with prenatally diagnosed AbnCC. Further prospective cohort studies with long-term follow-up of the born children will be needed to provide accurate prenatal counseling after a negative pES result.

Meconium peritonitis in both fetuses with early twin-to-twin transfusion syndrome.

Twin-to-twin transfusion syndrome (TTTS) is due to unbalanced inter-twin bloodflow through placental vascular anastomoses. We present a TTTS case treated with fetoscopic laser photocoagulation (FLP) that was complicated by perinatal meconium peritonitis in both twins. Ten weeks following laser treatment, the two fetuses showed intra-abdominal hyperechogenicity and ascites. After birth, the two newborns were surgically managed for peritonitis. We discuss the pathogenesis of this double insult. The present case highlights the role of end-circulation bowel thrombi as the potential cause of subsequent intestinal perforation.

Amniocentesis performed for karyotyping after identified ultrasonographic abnormalities: what to expect?

OBJECTIVES: The aim of this study was to evaluate the relative risk of identifying fetal chromosomal anomalies after finding ultrasonographic (US) abnormalities in a high-risk population who underwent amniocentesis. METHODS: A retrospective review of a cohort of patients with single pregnancies who underwent genetic amniocentesis was undertaken. Univariate and multivariate analysis were used to determine the best correlations between US findings and chromosomal abnormalities. RESULTS: Overall, 191 chromosomal abnormalities were found in 5,604 fetuses (3.4%). Multivariate analysis showed chromosomal abnormalities were significant ly associated with anomalies of the central nervous system (OR = 4.4, 95% CI 2.2-8.7), face and neck (OR = 15.7, 95% CI 9.2-26.8), heart (OR = 5.4, 95% CI 2.6-11.2), abdomen (OR = 5.6, 95% CI 2.9-10.9), extremities (OR = 5.7, 95% CI 2.4-13.4), an increased nuchal fold (OR = 5.2, 95% CI 3.3-8.1), an intrauterine growth restriction (OR = 3.6, 95% CI 1.6-7.9) and a short femur (OR = 4.1, 95% CI 1.4-12.1). CONCLUSIONS: Our results confirm the validity of specific US markers in detecting chromosomal abnormalities in the fetus.

[Chronic hypertension and pregnancy]. / Hypertension artérielle chronique et grossesse.

Hypertensive disorders in pregnancy are a leading cause of maternal and perinatal mortality and morbidity. The management of patients with chronic hypertension requires a multidisciplinary approach prior to conception, during pregnancy and post-partum. In the preconception period, fetotoxic agents should be discontinued. It is also essential to undertake a full cardiovascular examination which may, in some cases, question the possibility of pregnancy. During pregnancy, blood pressure should be monitored and controlled, but not necessarily returned to a normal value. Low blood pressure levels could indeed lead to placental hypoperfusion and fetal growth restriction. Close clinical, biological and ultrasound monitoring is recommended, even postpartum, since those patients are at higher risk for preeclampsia.

Benefits and risks of expectant management of severe preeclampsia at less than 26 weeks gestation: the impact of gestational age and severe fetal growth restriction.

OBJECTIVE: To determine maternal and perinatal outcome in women with severe preeclampsia at <26 weeks according to gestational age at the onset of expectant management and the presence of severe fetal growth restriction (<5th percentile). STUDY DESIGN: Fifty-one patients (53 fetuses; 2 twins) were retrospectively studied. RESULTS: Median prolongation was 7 days (2-55). Maternal morbidity rate was 43%. Perinatal survival rate was 42%. Severe fetal growth restriction complicated 17 fetuses (33%). There were no perinatal survivors in those managed at <24 weeks (n = 12). For those at 24-24(6/7) and 25-25(6/7) weeks, the perinatal survival rates were 50% and 57%, respectively, and in the presence of severe fetal growth restriction 0% and 30%, respectively. CONCLUSION: Perinatal outcome in severe preeclampsia in the midtrimester is dependent on gestational age and/or the presence of severe fetal growth restriction. Given the high maternal morbidity and the extremely low perinatal survival rates, we do not recommend expectant management before 24 weeks and/or in those with severe fetal growth restriction at any gestational age <26 weeks.

[Assessment of AFP in amniotic fluid: comparison of three automated techniques]. / Dosage de l'AFP dans le liquide amniotique : comparaison de trois techniques automatisées.

Ultrasound scanning is useful to detect neural tube defect (NTD) but scarcely distinguished between closed NTD and open NTD, which had very different prognosis. An amniotic fluid punction is thus mandatory to search for an increase in alpha foeto protein (AFP) levels and for the presence of acetylcholinesterase which identified open NTD. However, AFP levels fluctuate both with the gestational age and the assay used. Our aim was to establish normative values for AFP in amniotic fluid in the second half of pregnancy using three different immunoassays and to improve their clinical relevance. Amniotic fluid punctions were performed on 527 patients from 9 week of gestation (WG) to 37 WG either for maternal age, Trisomy 21 screening, increase in nucal translucency (control group, n = 527) or for suspicion of neural tube defect or abdominal defect (n = 5). AFP was measured using the immunoassay developed for serum AFP on the Access 2 system, the Immulite 2000 and the Advia Centaur. Results were expressed in ng/ml, multiple of the median (MoM) and percentiles. AFP decrease by 1.5 fold between 9 and 19 WG. When NTD was suspected, an increase in anmniotic AFP was observed (from 2.5 MoM to 9.3 MoM) confirming an open NTD. In conclusion, the assay developed on those 3 automates is suitable for the measurement of AFP in amniotic fluid.

[An unusual adrenal tumor: Ewing tumor]. / Une tumeur surrénalienne inhabituelle : tumeur d'Ewing.

We report the case of a voluminous tumor of the adrenal diagnosed in a young pregnant woman at 26(th) week of amenorrhea. Morphologically, a soft white tumor with haemorragic areas was observed, made of sheets of monomorphous, medium sized, spindle-shaped to polygonal, with high mitotic activity. Tumorous cells expressed cytokeratins AE1/AE3, EMA, and CD99 (expression of vimentin is not relevant). Contemplated diagnoses included poorly differentiated synovialosarcoma, sarcomatoid carcinoma and Ewing tumor. Thanks to molecular biology, showing the specific transcript of Ewing/peripheral primitive neuroectodermal tumor (pPNET) EWS/FLI1, the diagnosis of this atypical tumor in an unusual location was performed. Indeed, 75% of Ewing tumors involve bones (especially, the diaphysis of long bones) and 20 to 25% soft tissues. Primitive visceral involvement is rare; less than 10 cases of adrenal involvement have been reported. The hypothesis that Ewing cell's origin is a mesenchymal stem cell, which may derive from neural crest cell, could explain the uncommon adrenal involvement. Diagnosis of Ewing tumor is based on pathologic and molecular findings, especially in atypical cases.

[Human trophoblast differentiation]. / La différenciation du trophoblaste humain.

The role of the placenta in normal and pathological pregnancy is poorly understood, but important new insights into trophoblast biology have been obtained in recent years. The oxygen environment and retroviral envelope proteins are now known to play a role in morphological and functional differentiation of the human trophoblast. The qualitative and quantitative development of trophoblast hormonal functions during pregnancy, from a paracrine role during the first trimester to an endocrine role in placentation and uterine quiescence, is becoming increasingly clear. These findings are offering new perspectives in the diagnosis and treatment of disorders of placental origin.

[Can we prevent preeclampsia?]. / Peut-on prévenir la pré-éclampsie ?

Preeclampsia (PE), a specific complication of pregnancy, is one of the most frequent causes of maternal and fetal morbidity and mortality in the world. Recently, PE risk calculation algorithms allowing early detection of PE in the first trimester of pregnancy have been described. The aim of early detection would be to rapidly introduce an effective preventive treatment. The aim of our work is to study the different preventive treatments through the literature. Aspirin has some efficiency and reduces the risk of PE from 10 to 24%. It is most effective when the dose exceeds 75mg and when introduced before 16 gestational age. Early introduction of aspirin mainly prevents severe and preterm PE. Low molecular weight heparin (LMWH) and vitamin D appear to be promising therapy for PE but further research is required. Calcium administered at 1g/day reduces the risk of PE especially to patients with low baseline calcium intake. A low dose of calcium could also reduce the risk of PE but this must be confirmed. Other preventive measures (antioxidants, nitric oxide, progesterone, rest, exercise) do not reduce the incidence of PE.

Contribution of molecular diagnosis to congenital toxoplasmosis.

We evaluated the performance of three real-time polymerase chain reaction (PCR) assays on 73 samples from mothers and children with congenital toxoplasmosis. PCR assays had significantly higher sensitivity in prenatal period than in birth period when targeting the 529-bp repeat element (81.3% versus 36.0%) or the B1 gene (64.6% versus 20.0%).

Term labor management and outcomes in treated HIV-infected women without contraindications to vaginal delivery and matched controls.

OBJECTIVE: To assess labor management and outcomes for treated HIV-infected pregnant women with no obstetric or virologic contraindications to vaginal delivery. METHOD: A retrospective case-control study was conducted at a single center with 146 treated HIV-infected pregnant women without obstetric or virologic contraindications to vaginal delivery and 146 controls. Cases and controls were matched for parity, previous cesarean delivery, and geographic origin. RESULTS: The mode of delivery was similar in the 2 groups but the episiotomy rate was significantly lower among the HIV-infected women (29.6% vs 45.6%, P = 0.01), with no difference in mean birth weight, simple or complex perineal laceration rates or neonatal outcome. Postpartum morbidity was also similar for controls and HIV-infected women with a CD4(+) cell count of 200 cells/mL or higher. However, in the study group, postpartum morbidity was higher among those whose CD4(+) cell count was lower than this threshold (3.2% vs 22.2%, P = 0.007). No case of mother-to-child transmission of HIV occurred. CONCLUSION: HIV-infected women with no contraindication to vaginal delivery seem to have the same labor outcomes as uninfected women.

Expressional and epigenetic alterations of placental serine protease inhibitors: SERPINA3 is a potential marker of preeclampsia.

Preeclampsia is the major pregnancy-induced hypertensive disorder. It modifies the expression profile of placental genes, including several serine protease inhibitors (SERPINs). The objective of this study was to perform a systematic expression analysis of these genes in normal and pathological placentas and to pinpoint epigenetic alterations inside their promoter regions. Expression of 18 placental SERPINs was analyzed by quantitative RT-PCR on placentas from pregnancies complicated by preeclampsia, intrauterine growth restriction, or both and was compared with normal controls. SERPINA3, A5, A8, B2, B5, and B7 presented significant differences in expression in >or=1 pathological situation. In parallel, the methylation status of the CpG islands located in their promoter regions was studied on a sample of control and preeclamptic placentas. Ten SERPIN promoters were either totally methylated or totally unmethylated, whereas SERPINA3, A5, and A8 presented complex methylation profiles. For SERPINA3, the analysis was extended to 81 samples and performed by pyrosequencing. For the SERPINA3 CpG island, the average methylation level was significantly diminished in preeclampsia and growth restriction. The hypomethylated CpGs were situated at putative binding sites for developmental and stress response (hypoxia and inflammation) factors. Our results provide one of the first observations of a specific epigenetic alteration in human placental diseases and provide new potential markers for an early diagnosis.