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.

Obstetric outcomes associated with induction of labour after caesarean section.

PURPOSE: To evaluate the efficiency and safety of inducing labour with oxytocin in women with a single prior Caesarean section, with particular focus on the Bishop score. METHODS: Between January 1, 2013 and March 31, 2017, we included all women with a singleton full-term pregnancy and single prior Caesarean section in this monocentric retrospective observational study. Women for whom vaginal delivery was not recommended and those who went into spontaneous labour were excluded. The choice between induction of labour and caesarean section was made by the obstetrician and the patient, taking into account both the patient's personal medical history and the clinical observations on admission to hospital. The primary outcome was the rate of vaginal delivery. RESULTS: Out of 966 women with no contraindication to trial of labour after previous caesarean delivery (TOLAC), 248 were induced, with a vaginal delivery rate of 58.5% (95% CI [52.06; 64.67]). This rate was 81.7% (67/82) among women with Bishop ≥6 and 47% (78/166) if Bishop was <6. Eight cases of uterine rupture were reported in the induction of labour group. Regarding maternal morbidity, this was the main difference between the caesarean section and the induction of labour groups (p=0.049). Neonatal morbidity was low in both groups. CONCLUSIONS: The rate of vaginal delivery after induction of labour with oxytocin infusion was satisfactory. Nevertheless, maternal morbidity and especially the risk of uterine rupture were not minor. It is thus essential before inducing labour to inform the woman about the rate of success of TOLAC and the risks of uterine rupture.

[Ovarian cryopreservation: evaluation of two surgical procedures]. / Cryoconservation ovarienne: évaluation de deux techniques chirurgicales.

OBJECTIVES: To evaluate various surgical techniques for partial oophorectomy cryopreservation. To evaluate the consequences of prior exposure to cytotoxic therapy on the quality of the ovary removed. PATIENTS AND METHODS: Single center retrospective observational study over 4 years of women who had ovarian cryopreservation surgery for chemotherapy or radiotherapy which were at high risk of premature ovarian failure. Several techniques have been proposed: partial oophorectomy with clamping of the vascular gonadal pedicle (indirect tissue sample) without clamping (direct tissue sample) and partial oophorectomy with an automatic stapler. Ovarian tissue was immediately prepared for cryopreservation in the operating theatre. The whole sample was divided into small slices. For each ovary, a count of small slices was made. Additionally, one slice was examined to determine the presence of primordial follicles. RESULTS: Ovary was successfully removed and cryopreserved in 13 patients. Two bleeding events occurred with the direct technique, without consequences for patients. The number of fragments obtained between indirect and direct techniques was respectively 19 vs 15, P=0.18; the number of primordial follicles was 38 vs 36, P=0.87. The automatic stapler consumed too much ovarian tissue to be interesting. There were fewer fragments, 15 vs 20, P<0.05 and primordial follicles, 35 vs 40, P=0.65, after a first cycle of chemotherapy. DISCUSSION AND CONCLUSION: The vascular clamping technique is safer but with no difference in the quality of the sample tissue. One cycle of chemotherapy has a pejorative impact on the quality of the sample tissue.

[Fetal heart rate variability and clozapine treatment]. / Absence de variabilité du rythme cardiaque fœtal chez les fœtus exposés in utero à la clozapine.

We report the 2 cases of schizophrenic patients with clozapine treatment and particularly, we underlined a reduced variability and low short-term variability, whereas biophysical ultrasound score, Dopplers and perception of fetal movements were acceptable and comfortable concerning the fetal vitality. Our aim is to show the limits of the analyzed fetal heart rate under clozapine. So, we may change our observation of fetus in chronic suffering that is usually mainly made with an informatics analysis of pregnants under clozapine.