Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study.

OBJECTIVE: To determine the frequency and nature of copy number variants (CNVs) identified by chromosomal microarray analysis (CMA) in a large cohort of fetuses with isolated increased nuchal translucency thickness (NT) ≥ 3.5 mm. METHODS: This was a retrospective, multicenter study, including 11 French hospitals, of data from the period between April 2012 and December 2015. In total, 720 fetuses were analyzed by rapid aneuploidy test and the fetuses identified as euploid underwent CMA. CNVs detected were evaluated for clinical significance and classified into five groups: pathogenic CNVs; benign CNVs; CNVs predisposing to neurodevelopmental disorders; variants of uncertain significance (VOUS); and CNVs not related to the phenotype (i.e. incidental findings). RESULTS: In 121 (16.8%) fetuses, an aneuploidy involving chromosome 13, 18 or 21 was detected by rapid aneuploidy test and the remaining 599 fetuses were euploid. Among these, 53 (8.8%) had a CNV detected by CMA: 16/599 (2.7%) were considered to be pathogenic, including 11/599 (1.8%) that were cryptic (not visible by karyotyping); 7/599 (1.2%) were CNVs predisposing to neurodevelopmental disorders; and 8/599 (1.3%) were VOUS. Additionally, there was one (0.2%) CNV that was unrelated to the reason for referral diagnosis (i.e. an incidental finding) and the remaining 21 were benign CNVs, without clinical consequence. Interestingly, we identified five genomic imbalances of the 1q21.1 or 15q11.2 regions known to be associated with congenital heart defects. CONCLUSION: Our study demonstrates the benefit of CMA in the etiological diagnosis of fetuses with isolated increased NT. It is worth noting that most (69%) of the detected pathogenic CNVs were cryptic. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

[Training of residents in amniocentesis: Effectiveness of a craft simulator]. / Formation des internes à l'amniocentèse : intérêt d'un simulateur artisanal.

OBJECTIVE: This prospective study aims to assess a low fidelity simulation device for learning amniocentesis to gynecology-obstetrics residents. METHODS: From 2013 to 2016, gynecology-obstetrics residents of all levels, from the maternity of Nancy hospital, which have already performed amniocentesis or not, participated in amniocentesis training on an artisanal simulator. Residents were evaluated on the amniocentesis simulator according to seven quality criteria. Three scores were assigned: the first (S1) at the beginning of the first training session, the second (S2) at the end of the first session after individualized personal training and the third (S3) two months after the first simulation. RESULTS: A total of 40 residents were included. The scores obtained by the residents were 3.2±1.8 points for S1 versus 6.2±0.9 points for S2 (P<0.001). Two months after, the residents' performances remained significantly improved compared to the initial assessment with a score (S3) of 5.8±1.3 points at S3 (P<0.001). CONCLUSION: Amniocentesis craft simulator is effective for performance improvement and allows a persistence of acquired skills two months after the training. At the time of "never the first time on the patient", it should be part of the curriculum of gynecology-obstetrics residents in order to guarantee patients quality care and optimum safety.

[Management of post-abortum infections]. / Prise en charge des infections du post-abortum.

In countries where induced abortions are legal and medically supervised, the frequency of post-abortion infections is low and maternal death is infrequent. Nevertheless, short and long term consequences of post-abortion infections must be addressed. Sexually transmitted pathogens are frequently in cause here. Risk factors include in particular young age (less than 24 years), low socioeconomic level, late pregnancy, nulliparity, and history of previous untreated pelvic inflammatory disease. Diagnosis is based on clinical criteria and an inflammatory syndrome occurring within 2 to 3 weeks after spontaneous or induced abortion. A pelvic ultrasound is recommended in order to ensure the uterus vacuity and to look for a possible pelvic abscess, and bacteriological samples must be performed. Management consists in a regimen combining two antibiotics intravenously, with the possible addition of intravenous heparin in case of pelvic thrombophlebitis. Antibiotics can be discontinued 48 h of a clinical improvement and further treatment by oral route brings no benefit. Intrauterine retention associated with post-abortion endometritis must be addressed either by medical or surgical method.

[Management of post-partum infections]. / Prise en charge des infections du post-partum.

Post-partum endometritis are frequent and account for the fifth cause of maternal death. This disease is preventable and effective treatments are available. Streptococcus agalactiae is the primary pathogen implicated. The clinical diagnosis is usually easy and involves pelvic pain, fever and abnormal lochia. Whenever antibiotic treatment provides no clinical improvement, or in case of doubt on the vacuity of the uterus, an ultrasound exam must be performed. Likewise, a CT scan or a MRI will be performed in case of persistent fever in search of a pelvic abscess requiring a drainage, or of a pelvic thrombophlebitis. Thromboplebitis requires heparin for the duration of antibiotic therapy, or oral anticoagulants for at least 3 months in case of pulmonary embolism or extension to the vena cava. The recommended antibiotic regimen combines clindamycin with gentamicin (once daily) intravenously. In case of contraindication or breastfeeding, other regimens may be prescribed. Adequate duration of treatment has not been evaluated and a switch to oral antibiotics after clinical improvement brings no benefit. Antibioprophylaxy (mostly cephalosporins) is recommended in cases of cesarean section (at skin incision), while it is debated in case of assisted delivery or of 3rd and 4th degree perineal tears.