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This study was to assess the alteration of circulating complement factor Ba (CFBa) within 11 to 17 weeks of gestation and its association with subsequent gestational diabetes mellitus (GDM) and its delivery outcome. Biochemical parameters and blood samples were collected from 399 pregnant women within 11 to 17 weeks of gestation. At 24 to 28 weeks of gestation, all participants underwent 75-g oral glucose tolerance test and were assigned to GDM group (n = 80) and normal control group (n = 319). Perinatal data were collected after delivery. A propensity score-matched (PSM) analysis was performed to reduce the impact of confounding factors on glucose metabolism during pregnancy between the two groups. Two groups of 74 well-matched patients who maintained balance in terms of baseline characteristics. The levels of CFBa in pregnant women who later developed GDM were significantly higher than those in healthy pregnant women [0.4(0.1–0.8) vs. 0.2(0.2–0.3), p = 0.024]. Logistic regression analysis results confirmed that the level of CFBa was an independent impact factor for the occurrence of GDM (OR = 1.57, 95% CI: 1.118–2.210, p = 0.009). Further grouping according to the median level of CFBa, it was found that the incidence of GDM in category two (>0.23 ng/ml, n = 74) was markedly higher than that in the first category (≤0.23 ng/ml, n = 74) (p = 0.021). High level of the CFBa within 11 to 17 weeks of gestation increases the risk of subsequent GDM, and maybe a biomarker for predicting GDM. [ABSTRACT FROM AUTHOR]

Aim: The aim of this study is to summarize the outcomes of transfers of mosaic embryos, which were classified according to guidelines and in strong collaboration of reproductologists, clinical geneticists and patients approved as suitable for transfer. Material and Methods: Retrospective data were collected from 70 patients from a private IVF center to whom embryos with mosaic changes in chromosomal material were transferred from 2015 to 2019. Results and Conclusion: Implantation outcomes and continuing pregnancies showed slight differences, when compared to fully normal embryos. Artifacts have to be differentiated from undeniable aberrations, and correct interpretation of results must be done with following patient counselling and prenatal testing if necessary. [ABSTRACT FROM AUTHOR]

Prenatal diagnosis of Down syndrome (DS) is based on calculated risk involving maternal age, biochemical and ultrasonographic markers, and, more recently, cell-free DNA (cfDNA). The present study was designed to identify Down Syndrome biomarkers in maternal serum. We quantified the changes in maternal serum protein levels between 10 non-pregnant women, 10 pregnant women with healthy fetuses, and 10 pregnant women with DS fetuses using isobaric tags for relative and absolute quantification (iTRAQ). We subsequently conducted a Gene Ontology (GO) analysis. A total of 470 proteins were identified, 11 of which had significantly different serum levels between the DS fetus group and Healthy fetuses group. Our data shows the identified proteins may be relevant to DS and constitute potential DS biomarkers. [ABSTRACT FROM AUTHOR]

Objective: To determine whether maternal plasma human placental lactogen (hPL) mRNA levels can predict abnormally invasive placenta. Study design: Sixty-eight singleton pregnant women with prior Cesarean deliveries were classified into three groups: 35 with normal placentation (control group); 21 with placenta previa alone (placenta previa group); 12 with placenta previa and placenta accreta (placenta accreta group). Maternal plasma hPL mRNA concentrations were measured by real-time reverse-transcription polymerase chain reaction Result: The multiple of the median (median, range) for hPL mRNA was significantly higher for the placenta accreta group (2.78, 1.09–4.56) than the control (1.00, 0.29–2.98) or placenta previa (1.12, 0.33–3.25) groups (Steel–Dwass test, p <.001 and p =.005, respectively), was not significantly different between the women with placenta accreta who underwent hysterectomies (2.96, 1.38–4.56) and the women whose deliveries did not result in hysterectomy (2.36, 1.09–3.25) in the placenta accreta group (Mann–Whitney U test, p =.372). Conclusion: hPL mRNA in maternal plasma may indicate abnormally invasive placenta but cannot predict whether abnormally invasive placenta will result in hysterectomy. [ABSTRACT FROM AUTHOR]

Preconception genetic testing should be offered to all patients with 21-hydroxylase congenital adrenal hyperplasia. We report how the preconception genetic testing of a lady and her partner dramatically changed the estimated risk to their offspring and the major implications the results had on pregnancy planning. The risk of conceiving a female fetus with congenital adrenal hyperplasia brings in considerations of prenatal dexamethasone therapy and prenatal diagnosis. We also highlight the differences between genetic testing on a research and clinical basis. [ABSTRACT FROM AUTHOR]

Purpose: This study was performed on miscarriage samples for chromosome analysis to detect copy number variations (CNVs) related to subtelomeric regions, and with these results we aimed to adapt multiplex ligation-dependent probe amplification (MLPA) method for prenatal diagnosis. Materials and methods: The cell cultures and DNA isolations were performed on 60 miscarriage samples. For maternal contamination analysis, DNA isolations and quantitative fluorescent polymerase chain reactions were done using peripheric blood of mothers who had miscarriages. We compared short tandem repeat peak profiles of miscarriage samples and mothers. The subtelomeric regions of the chromosomes were assessed using the MLPA method. Results: Of 43 miscarriage samples, 19 had normal karyotype (44.2%), 10 had numerical abnormalities (23.3%), and 2 had structural abnormalities (4.7%). Subtelomeric 16q duplication was determined in 2 of the 30 miscarriage samples investigated with MLPA method (6.6%). Conclusion: There is no statistically significant difference between two groups (p > 0.05). However, the fact that the 6.6% subtelomeric CNV found in miscarriage samples was not found in controls, showed that further studies are required. We recommend that the miscarriage samples of the couples with recurrent miscarriage should be analyzed in terms of subtelomeric CNV after the exclusion of other clinical reasons. 目的：通过对流产物取样进行染色体分析来检测端粒近端区域基因拷贝数异变（CNVs）情况，旨在将多重连接探针扩增技术（MLPA）用于产前诊断。 材料与方法：对60例流产物样本进行细胞培养和DNA分离。采用母体外周血进行母体细胞污染分析、DNA分离及荧光定量聚合酶链反应。我们比较了流产样本和母血中短串联重复序列峰值情况。采用MLPA对染色体亚端粒区进行评估。 结果：43例流产样本中，19例核型正常（44.2%）。10例染色体数目异常（23.3%）2例结构异常（4.7%）。采用MLPA对30例流产样本进行检测，其中2例发生端粒区域16号染色体长臂复制（6.6%）。 结论：两组没有明显的统计学差异（p>0.05）。然而流产样本中发现6.6%端粒近端区域基因拷贝数异变，而控制组中没有发现，尚需进一步研究。我们建议对于存在复发性流产的夫妇在排除其他临床原因外应对流产物样本进行端粒近端区域基因拷贝数异变分析。 [ABSTRACT FROM PUBLISHER]

The purposes of this study is to examine possibility to use combination of non-invasive prenatal testing (NIPT) and chromosomal microarray analysis (CMA) for prenatal diagnostics and their advantages between combined first-trimester screen with confirmation by karyotyping of CVS or amniocytes. A total of 1968 pregnant women, in this study, have undergone prenatal screening and/or diagnostic tests. NIPT is more suitable and efficient for the detection of aneuploidy. However, this test has limitations for detection deletions/duplications. Use of CMA for confirmation of some NIPT findings or as first test for women with ultrasound abnormalities can detect small imbalances in chromosomes. Combination of NIPT and CMA allows a higher prenatal detection of chromosomal abnormalities. [ABSTRACT FROM AUTHOR]

The purpose of this study was to identify pre-gestational and gestational factors predicting subsequent insulin requirement in patients with gestational diabetes mellitus (GDM). Maternal parameters were compared between mothers achieving glycemic control with or without the addition of antenatal insulin therapy (AIT). Insulin was required only in 8/83 (10%) patients for glycemic control. Those who needed insulin had a stronger family history of diabetes and higher first hour plasma glucose along with multiple (>1) abnormal values during oral glucose tolerance test (OGTT) in univariate analysis ( p < 0.05). The first hour plasma glucose value of ≥9.72 mmol/l predicted requirement of AIT in GDM mothers with a sensitivity of 100% and specificity of 73%. However, only positive family history of diabetes mellitus among first degree relatives and multiple abnormal values in OGTT were independent predictors for antenatal insulin requirement in regression analysis. 本研究的目的是探讨妊娠期糖尿病（gestational diabetes mellitus ，GDM）患者孕期是否需要使用胰岛素治疗的孕前及孕期的预测因素。比较了除饮食控制和适当运动外，需要和不需要用胰岛素治疗(antenatal insulin therapy,AIT)来控制血糖的两组孕妇的各项参数。在83例妊娠期糖尿病患者中，只有8例需要用胰岛素来控制血糖。这些孕妇有更明显的糖尿病家族史；口服葡萄糖耐量试验（oral glucosetolerance test，OGTT）多项值（大于1项）高出正常范围且1小时血糖值明显高于不需要使用胰岛素的孕妇（p<0.05）。1小时血糖值≥9.72 mmol/l对于预测GDM的孕妇是否应用AIT的敏感性为100%，特异性为73%。然而，回归分析显示：只有一级亲属有糖尿病家族史和OGTT多项值异常是预测孕期需使用胰岛素治疗的独立预测因素。 [ABSTRACT FROM AUTHOR]

Introduction: Our aim was to state the role of first trimester pregnancy-associated plasma protein A (PAPP-A)-multiple of the median (MoM) value as a predictor for breech presentation at term of pregnancy. Materials and methods: In this retrospective study, we present data for 1100 singleton full-term deliveries that took place in a third-level hospital setting in northeast Italy between January 2004 and July 2007. For each case, PAPP-A, free beta-human chorionic gonadotropin and nuchal translucency were measured during prenatal trisomies screening (between 11 weeks and 13 weeks and 6 d). A wide range of predictive factors for breech presentation at term of pregnancy and other confounding elements were considered. Results: Of the 1100 singleton deliveries at term considered in our study, 40 babies were in breech presentation. Using bivariate analysis and multivariate logistic regression, a lower PAPP-A MoM than 0.63 (first quartile of our distribution) in the first trimester (OR 2.41, CI.95 1.25-4.67), and placental index at term higher than the median value (OR 2.04, CI.95 1.00-4.17) were proven to be associated with breech presentation at term. Conclusions: A low PAPP-A during the first trimester was a predictive factor for breech presentation at term of pregnancy. Acknowledging and acting on this predictor could enable improved management of breech foetuses in the future. [ABSTRACT FROM AUTHOR]

This study was designed to compare first-trimester maternal serum biochemical markers of aneuploidy and fetal nuchal translucency in pregnancies complicated by gestational diabetes mellitus and those of a control group. The study included 60 gestational diabetic and 60 control women who attended the first-trimester combined screening program for Down syndrome between 11 and 14 gestational weeks with complete follow-up data and delivered in our institution. Maternal serum free β-human chorionic gonadotropin, pregnancy-associated plasma protein-A and fetal nuchal translucency were investigated. The combined risks, double test risks and age risks were calculated by PRISCA software version 4.0. Comparison of the results between the two groups yielded no significant differences in serum levels of free β-human chorionic gonadotropin and fetal nuchal translucency. However, women who developed gestational diabetes mellitus had significantly lower pregnancy-associated plasma protein-A. And also, the combined risks and double test risks calculated by PRISCA software were statistically higher in gestational diabetic women than normal pregnant women. These results suggest that differences can be seen between diabetic and healthy pregnant women in first-trimester maternal serum biochemical markers of aneuploidy. [ABSTRACT FROM AUTHOR]

We report a case of a 40-year-old primipara Caucasian woman with Turner syndrome (TS) and Hashimoto thyroiditis who had underwent a successful IVF-ET cycle with oocyte donation and single embryo transfer. All pregnancies in women with TS are considered as high risk, with cardiovascular complications being the most dangerous. Our case represents a typical case of fetal growth restriction with gradual slowing down of fetal growth after 28 weeks. At 37 + 3 gestational weeks, a healthy male newborn weighing 2240 g, with artery pH of 7.32 was delivered by cesarean section. The neonate was small for gestational age. Women with TS who become pregnant need close surveillance from a multidisciplinary team of cardiologists, obstetricians and endocrinologists. The primary goal is to prevent maternal complications and to improve perinatal outcome. In doing so, a thorough evaluation of fetal growth and uteroplacental and fetal circulation should by no means be omitted, after 26-28 weeks of gestation. The examinations should be at monthly or even shorter intervals to find early signs of growth restriction and act accordingly. [ABSTRACT FROM AUTHOR]

A correction to the article "Does Adding Endometrial Scratching to Diagnostic Hysteroscopy Improve Pregnancy Rates in Women with Recurrent In-Vitro Fertilization Failure?" that was published online in the 2016 issue is presented.