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.

[Use of fetal movements counting for prolonged pregnancy: A comparative preliminary cohort study before and after implementation of an information brochure]. / Utilisation du compte des mouvements actifs fœtaux en cas de grossesse prolongée : étude préliminaire comparative de cohorte avant et après mise en place d'une brochure d'information.

OBJECTIVES: Compare the number of consultations with the consultation's delay in relation with the sensation of decrease active fetal movements (AFM) in case of late pregnancy, according to the fact if the patients use or not the AFM's count. MATERIALS AND METHODS: We have compared a "control" group made up of 160 patients who received a classic information and observation (from December 18th, 2013 to February 28th, 2014) versus an "educated" group made up of 160 patients who have been educated to the AFM count (from March 1st, 2014 to August 12th, 2014). RESULTS: The consultations for AFM decrease, were significantly more frequent in the "control" group than in the "educated" group (36 versus 8, P=0.0009). Inducing labor due to AFM reduction was not statistically different between both groups (13 patients in the "educated group" versus 7 patients in the "control" group P=0.97). CONCLUSION: Learning a count method seems to decrease the number of consultations for AFM reduction without increasing the perinatal morbidity but maybe at the cost of an increase of obstetric interventions.

[Instrumental delivery with perineum-fetal head distance >55 MM on ultrasound]. / Extraction instrumentale sur une hauteur de présentation supérieur à 55mm à l'échographie transpérinéale.

OBJECTIVE: Compare the issue of an operative vaginal delivery associated to the fetal presentation diagnosed by transperineal ultrasound. Three groups were formed: ≥55 mm, between 45 and 55 mm, and <45 mm. METHODS: A monocentric prospective study on 108 patients has been conducted between April 2011 and August 2014. The distance between perinea and skull has been analyzed to compare the success of operative vaginal delivery considering the level of the fetal presentation in the pelvic cavity. RESULTS: The failed operative vaginal deliveries are more frequent while the fetal head is above 55 mm (16.7%) or while the fetal head is between 45 and 55 mm (9.1%) than while the fetal skull is under 45 mm (1.8%) (P=0.04). However there is no significant difference for the fetal shoulder dystocia (5.6% vs 3.0% vs 3.5%, P=0.5), nor for the newborn outcomes (16.7 vs 15.2 vs 14; P=0.9). CONCLUSION: Despite the high rate of failed operative vaginal delivery above 55 mm, it should be considered not to prohibit but send free to the obstetrician appreciation.

[Maternal knowledge of fetal movements in late pregnancy]. / Évaluation des connaissances des femmes enceintes sur les mouvements actifs fœtaux lors de la visite de terme.

OBJECTIVES: Evaluate knowledge of patients with late pregnancy on active foetal movements. PATIENTS AND METHOD: This prospective study has been carried out with volontary patients during the 41-week of gestation term consultation, with a questionnaire, at the obstetric gynecology departments of St-Etienne Hospital (CHU), Clermont-Ferrand Hospital (CHU), Roanne Hospital (CH) and Firminy Hospital (CH), from July 22nd, 2013 to September 14th, 2014. RESULTS: Few patients (17%) have been seen urgently by an obstetrician or a midwife in case of a decrease of the active foetal movements. Most patients (73.6%) wait 24hours to consult. More than 50% of women have not been informed on this topic before the birth. However, 86.84% of the patients are interested in being informed when they see their doctor. The easiest way would be to count the active foetal movements 3 times a day on a short period. CONCLUSION: There is still a lack of information on the active foetal movements. It remains a difficult topic because its definition is still subjective and the information has no protocol.

[Preliminary study of fetal head engagement diagnosis by transperineal ultrasound before operative vaginal delivery]. / Étude préliminaire du diagnostic d'engagement par une échographie transpérinéale avant une extraction instrumentale.

OBJECTIVES: Estimate the predictive value of perineum-fetal head distance obtained by transperineal ultrasound on results of an operative vaginal delivery. PATIENTS AND METHOD: A prospective preliminary monocentric study has been conducted on 28 patients between the 18th of April and the 31st of July 2011. Three successive perineum-fetal head distance have been measured before realization of an operative vaginal delivery. RESULTS: With caesarian section deliveries, average distances were higher than with successful operative vaginal deliveries but this result was not significant (49.3mm vs 39.7 mm; P=NS). Ultrasound measured distance was significantly correlated to the time of application of the instrument (r=0.45, P=0.0165). Beyond 50mm, the relative risk of caesarian was 10.5 (IC [0.76-145.36]). The measures were corresponding, with an average time of realization of 29.9 seconds. The transvaginal examination compared to ultrasound showed a discordance of 3.6% for the diagnosis of engagement and of 25% for the descent of fetal head. CONCLUSION: A larger study is necessary to confirm this result and to recommend the realization of a transperineal ultrasound before an operative vaginal delivery in cases of doubt about engagement after the transvaginal examination.

[Risk factors of mesh exposure after transvaginal repair of genital prolapse]. / Facteurs de risque d'exposition de prothèse dans les cures de prolapsus génital par voie vaginale.

OBJECTIVES: We analysed the risk factors of vaginal surgery of pelvic organ prolapse with non resobable prothesis. PATIENTS AND METHODS: This is a continuous, retrospective study of the 208 patients who had surgery between 2003 and 2007. Depending on the localisation of the prolapse, they had a prothesis under the bladder and/or a posterior tape through the sacrospinous ligament. An hysterectomy and a levator myorraphy were done if necessary. RESULTS: After a 3 years follow-up, we found 16.8% mesh exposure (23% were treated by a conservative way). The highest rate of incidence was at 4 and 10 months. The independent risk factors of exposure were the kind of prothesis, age under 60 and concomitant hysterectomy. Women treated by vaginal estrogens and those operated by the most experienced surgeon had less exposure. We had 5% of complications during the surgery. DISCUSSION AND CONCLUSION: Hysterectomy, kind of prothesis and inverted T colpotomy of Crossen are well known risk factors. Age, stage of prolapse, size of prothesis and surgeon experience are discussed. Vaginal surgery of pelvic organ prolapse with non resobable prothesis must be used only when prolapse stage is higher than 3, hysterectomy has to be avoid and vaginal estrogens must be prescribed.

Serious primary post-partum hemorrhage, arterial embolization and future fertility: a retrospective study of 46 cases.

BACKGROUND: The guidelines advise arterial embolization in case of post-partum hemorrhage. We evaluated its feasibility and the subsequent fertility. METHODS: A retrospective study has been conducted in our center for the past 10 years (1996-2005). Fifty-two patients experiencing a primary post-partum hemorrhage who were resistant to medical treatment underwent uterine artery embolization and/or hysterectomy. In case of arterial embolization, a follow-up of all the patients was realized, focusing on the preservation of fertility. RESULTS: Six (11.5%) patients underwent hysterectomy straightaway and 46 (88.5%) arterial embolization in the first instance including 35 arterial embolizations after Cesarean section. Embolization was successful among 41 patients (89.1%) and hysterectomy was performed on the 5 (10.9%) others. Overall, 11/24 398 women suffered from a definitive loss of fertility after post-partum hemorrhage. Fertility was studied at least 1 year after the delivery. All patients had a return of normal menses. Sixteen of 41 women (39%) wanted another child and 100% succeeded. Nineteen pregnancies, including two twin pregnancy and one early spontaneous abortion were observed. CONCLUSIONS: Embolization is a safe and effective non-surgical method to resolve post-partum hemorrhage and should be regarded as gold standard in a hemodynamically stable patient. Furthermore, subsequent fertility is not impaired by the procedure.