Differences in median PAPP-A, free beta-hCG and, to a lesser extent, in NT exist in Afro-Caribbean, South Asian and Oriental women. In populations where the medians and delta NT reference ranges are established in predominantly Caucasian populations, some correction for ethnicity is appropriate and can redress differences in screen-positive rates between these different groups.

Background: Circulating fetal DNA (cfDNA) in maternal plasma has been measured to investigate its possible relationship with pregnancy-related disorders, including fetal trisomy 21 and preeclampsia. The circulating concentrations of single-copy fetal genes, however, are close to the detection limits of PCR methods. Methods: We optimized a protocol for the real-time quantitative PCR amplification of the multicopy sequence DYS14 on the Y-chromosome. This was compared with an established real-time PCR assay for the single-copy SRY gene. Results: By probit regression analysis, the measurements of male DNA by the DYS14 assay had a 10-fold lower detection limit (0.4 genome equivalents) than did measurements of SRY. For plasma samples from women in the first trimester of pregnancy, imprecision (CV) was 2%-22% when amplifying DYS14 compared with 26%-140% for SRY. Conclusions: The low copy numbers of fetal DNA in plasma of women in the first trimester of pregnancy cannot be measured precisely when targeting singlecopy sequences. Better results are obtained by amplifying a sequence that is present in multiple copies per male genome.

Introduction Laparoscopic cystectomy provides more favourable outcomes as regards the recurrence and subsequent clinical pregnancy rates. It is associated with significant reduction in the ovarian reserve due to the inevitable removal of unaffected ovarian tissue. The aim of our study was to evaluate the efficiency of Surgicel in preventing recurrence of endometriomas after their laparoscopic conservative management (cystectomy or drainage). Material and methods A randomized controlled trial included two hundred women (candidate for conservative laparoscopic management of ovarian endometriomas). They were randomized into four groups; group D in which patients underwent laparoscopic drainage of the endometrioma, group C in which patients underwent laparoscopic cystectomy of the endometrioma, group DS in which patients underwent laparoscopic drainage followed by insertion of Surgicel inside the cyst cavity & group CS in which patients underwent laparoscopic cystectomy of the endometrioma followed by insertion of Surgicel inside the remaining ovarian tissues. All patients were followed up for 2 years & the primary outcome was the recurrence of endometriomas in the ipsilateral ovary & the postoperative ovarian reserve was reassessed as a secondary outcome. Results The Surgicel-treated groups had significantly lower hazard of recurrence compared to untreated groups ( p = 0.004). Group CS had significantly lower hazard of recurrence compared to Group D & C ( p = 0.014, 0.046 respectively). Group DS had significantly lower hazard of recurrence compared to Group D ( p = 0.039) but it not significantly different from Group C ( p = 0.112). Group DS had the lowest drop of AMH and was significantly lower than the other three groups. Conclusion Surgicel reduces effectively the recurrence risk of endometriomas and its use during laparoscopic drainage is an effective alternative for traditional laparoscopic cystectomy with minimal affection of the patient ovarian reserve. Trial registration Name of the registry: clinicaltrials.gov. Trial registration number NCT02947724 . Date of registration October 28, 2016.

The aim of this work was to evaluate the effects of extreme body mass index (BMI) on assisted reproductive treatment outcome and pregnancy outcome. This is a descriptive cohort study that evaluated 8,145 consecutive in-vitro fertilisation/intracytoplasmic sperm injection-embryo transfer (IVF/ICSI-ET) cycles in which BMI were known, from July 1997 to June 2005 in an inner London major fertility clinic. The data were collected prospectively and analysed retrospectively on women undergoing IVF/ICSI and ET. Patients' weight and height were established prior to treatment. IVF/ICSI treatment was then started using either a long or an antagonist protocol. Patients were divided into five groups: Group A (BMI < 19); Group B (BMI between 19 and 25.9); Group C (BMI between 26 and 30.9); Group D (BMI between 31 and 35.9); Group E (BMI > 36). The main outcomes measured were number of eggs collected, fertilisation rate, number of embryos available for transfer, pregnancy rate (PR), live-birth rate (LBR) and miscarriage rate (MR). The results showed no significant difference in the average number of days taking follicle stimulating hormone (FSH) for ovarian stimulation, the average amount of gonadotrophin used for stimulation, number of eggs collected and fertilisation rate. The pregnancy rate, miscarriage rate and the live-birth rate were not statistically different between all groups. However, in group E the miscarriage rate was significantly higher and the LBR was statistically lower compared with group B. We concluded that extreme BMI did not affect the super-ovulation outcome fertilisation rate and pregnancy rate. Women with a BMI > 35 had a higher miscarriage rate and hence a lower live-birth rate, but a reasonable pregnancy and live-birth rate can be achieved. For women with a BMI < 20 there was no difference in assisted reproduction treatment (ART) outcome and pregnancy outcome when compared with women with a normal BMI. This information should be used to advise patients who wish to embark on ART with extreme BMI.

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tients with the p.R110X mutation, as was described recently (13 ). Although p.R110X is one of the few recurrent mutations of this gene, we were unable to find other clinical descriptions of female patients carrying this mutation, and the movement disorder in CLS, although common, is not well studied.No clear hot spot mutations were found, thus highlighting the functional relevance of both protein kinase domains. In patients negative for RSK2 mutations by DHPLC analysis, direct sequencing of the entire gene failed to detect any variations. Moreover, no false-positive results were reported, each abnormal chromatogram containing 1 mutation or polymorphism.The detection rate in our patients was 7 of 16 (44%), and despite the small number of patients, we believe that it represents a significant increase in the sensitivity of RSK2 mutational screening compared with the recent literature. Among patients who were negative on RSK2 mutation analysis, only 2 exhibited a typical CLS phenotype. As suggested previously (14 ), genetic heterogeneity or defects in regions not investigated by this assay can account for the failure in detecting RSK2 mutations in those patients.Including the time to set up the PCR reaction and to perform the DHPLC, analysis time was ϳ6 h to screen the entire coding region of the RSK2 gene, thus providing a high-throughput alternative to single-strand conformational polymorphism-based analysis for molecular prescreening in CLS patients.We gratefully acknowledge financial support from the Italian Ministry of Health. Down syndrome is the most common chromosomal abnormality of live-born babies. Currently, cytogenetic analysis of fetal cells such as full chromosome karyotyping (1 ) and fluorescence in situ hybridization (2 ) are the most widely used techniques for prenatal diagnosis of this chromosomal aneuploidy. Recently, however, alternative molecular strategies have been developed. Quantitative fluorescence PCR involves the detection of short tandem repeats on chromosome 21 and is by far the most thoroughly evaluated molecular technique. Additional reported molecular detection methodologies include realtime quantitative PCR (3, 4 ), multiplex probe ligation assays (5 ), and paralogous sequence quantification (6 ). Using melting curve analysis of single-nucleotide polymorphisms (SNPs), Pont-Kingdon et al. (7 ) have measured the relative allele copy number in fixed cells and amniocyte cell cultures of trisomy 21 samples. Compared with short tandem repeats, SNPs occur much more frequently in the human genome (8 ) and thus would potentially provide more information on chromosomal abnormalities. In the present study, we investigated the feasibility of measuring the allelic ratios of the chromosome-21 SNPs to identify trisomy 21 in various clinical samples. We detected and quantified the allelic ratios by PCR followed by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) 2358Technical Briefs

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phosphate buffer (pH 6.0) was integrated into the assay component.Fully automated immunoassay formats are available for quantification of urinary albumin in large numbers of samples. However, most of these methods are impractical or expensive. The criteria for point-of-care testing include affordable cost, a disposable device, and minimum maintenance/technical expertise required to perform tests (15 ). The sample should be applied directly to the device, which should require only a small sample volume, and the assays should have a rapid turnaround time with good accuracy. There are some point-of-care devices for determination of MAU in urine, such as the ImmunoDip (Diagnostic Chemicals Limited) and Micral Urine Test Strip (Roche Diagnostics). Despite their many advantages, one drawback of these commercial test devices is that they give only negative, threshold, or positive results without displaying quantitative values for urinary albumin. Given the different principles of the assays compared, the results obtained with the fluorescence ICA agree well with the results obtained with the independent RIA. Considering the detection limit, imprecision, linearity, and working range, the fluorescent ICA is comparable to other, wellknown immunoassays and appears to be suitable for determination of urinary albumin.