Selective growth of mosaic cells in chromosomal analysis of chorionic villi by conventional karyotyping.
- 作者列表："Zhang Y","Lei Q","Liu J","Lin M","Luo L","Li T","Wang Q","Zhou C
:The major cause of first-trimester pregnancy loss is chromosomal abnormality, which could be detected by many methods. Conventional karyotyping based on chorionic villi (CV) culture is frequently used but may have limitations due to culture failure and selective growth of cells. In this study, we aimed to investigate the degree of mosaicism present in villi by a combination of three different methods, namely conventional karyotyping following culture, multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH), with a view to exploring the incidence of selective growth of mosaic CV cells during the process of culture for conventional karyotyping. CV samples were obtained from 207 patients with early spontaneous miscarriage (ESM). There were 56 (56/207, 27.1%) samples with mosaic chromosome detected by FISH based on four or five types of probes in this study. The incidence of selective growth of mosaic cells during the process of conventional karyotyping was 6.0% (11/183). In addition, we found that mosaic cell lines as low as 2% could grow and completely dominate the outcome of karyotyping results. The selective growth of a particular cell line during culture, whether euploidy or aneuploidy, could supress the diagnosis of mosaicism.
染色体异常是妊娠早期丢失的主要原因，多种方法均可检出。基于绒毛膜绒毛 (CV) 培养的常规核型分析经常使用，但由于培养失败和细胞的选择性生长，可能存在局限性。在本研究中，我们旨在通过三种不同方法的组合来研究绒毛中存在的嵌合程度，即培养后的常规核型分析、多重连接依赖性探针扩增 (MLPA) 和荧光原位杂交 (FISH),以期探索常规核型分析培养过程中镶嵌 CV 细胞选择性生长的发生率。CV 样本来自 207 例早期自然流产 (ESM) 患者。在本研究中，基于四种或五种探针，FISH 检测到嵌合染色体的样本有 56 份 (56/207，27.1%)。在常规核型分析过程中，镶嵌细胞选择性生长的发生率为 6.0% (11/183)。此外，我们发现低至 2% 的镶嵌细胞系可以生长并完全主导核型分析结果的结局。特定细胞系在培养过程中的选择性生长，无论是整倍体还是非整倍体，都可以抑制嵌合体的诊断。
METHODS::Maternal lifestyle affects both mother health and pregnancy outcome in humans. Several studies have demonstrated that interventions oriented towards reducing stress and anxiety have positive effects on pregnancy complications such as preeclampsia, excessive gestational weight, gestational diabetes and preterm birth. In this work, we showed that the environmental enrichment (EE), defined as a noninvasive and biological significant stimulus of the sensory pathway combined with voluntary physical activity, prevented preterm birth (PTB) rate in a 41% in an inflammatory mouse model induced by the systemic administration of bacterial lipopolysaccharide (LPS). Furthermore, we found that EE modulates maternal metabolism and produces an anti-inflammatory environment that contributes to pregnancy maintenance. In pregnant mice uterus, EE reduces the expression of TLR4 and CD14 (the LPS receptor and its coactivator protein), preventing the LPS-induced increase in PGE2 and PGF2α release and nitric oxide synthase (NOS) activity. In cervical tissue, EE inhibits cervical ripening events, such as PGE2 release, matrix metalloproteinase (MMP)-9 increased activity and neutrophil recruitment, therefore conserving cervical function. It seems that EE exposure could mimic the stress and anxiety-reducing techniques mentioned above, explaining, at least partially, the beneficial effects of having a healthy lifestyle before and during gestation. Furthermore, we propose that designing an EE protocol for humans could be a noninvasive and preventive therapy for pregnancy complications, averting pre-term birth occurrence and dreaded sequelae that are present in the offspring born to soon.
METHODS:PROBLEM:We aimed to investigate the main causes of recurrent miscarriage (RM) in patients with losses after spontaneous gestation (SG) and after in vitro fertilization (IVF). METHOD OF STUDY:A prospective case-control study was conducted. The eligible patients were women who had experienced two or more consecutive abortions after less than 12 weeks gestation, two consecutive losses after SG or two consecutive losses after IVF. All patients were subjected to the following evaluations: karyotyping of the aborted material, alloimmune and autoimmune marker testing, and acquired and hereditary thrombophilia marker testing. RESULTS:In total, 58 patients were eligible: 32 patients with RM after SG and 26 patients with RM after IVF. The factors associated with RM were genetic (29%), immune (14%), thrombophilic (21%), and thrombophilic and immune (24%), and only 12% of the cases were idiopathic. Comparing the two study groups (SG and IVF), all studied factors were similar, except for a higher ANA positivity observed in the SG group (SG 30.4% versus IVF 5.3%, OR 8.6 (CI 1.1 - 21.1, P 0.048). CONCLUSIONS:Our study identified the possibly factors associated with recurrent miscarriage in 86% of the cases, and these factors appear to be similar in patients with recurrent miscarriage after spontaneous gestation and IVF. This study demonstrates that IVF with PGT-A with euploid embryo transfer could reduce abortions by up to 29%, but other factors needs to be investigated even in patients undergoing in vitro fertilization.
METHODS:OBJECTIVES:To evaluate the impact of pre-operative Music Therapy (MT) on pain in first-trimester abortion under local anaesthesia (ALA). DESIGN:Randomised controlled trial comparing patients undergoing a first-trimester ALA with or without a pre-operative MT session. SETTING:University hospital of Angers from November 2016 to August 2017. POPULATION:Patients who underwent first-trimester abortion under ALA. METHODS:Patients allocated to MT group underwent a pre-operative 20 minutes session of MT. MAIN OUTCOME MEASURES:Pain was assessed using a visual analogue scale (VAS) just before the procedure, during the procedure, at the end of the procedure and upon returning to the ward. RESULTS:159 patients were randomised (80 in MT group, and 79 in the control group). 2 patients were excluded from the control group and 6 from the MT group. Therefore, 77 patients were analysed in the control group and 74 in the MT group. The intensity of pain were similar in both the MT group and the Control group just before the procedure (VAS: 4.0±2.9 vs. 3.6±2.5, p=0.78), during the procedure (VAS: 5.3±2.5 vs. 4.9±2.9, p=0.78), at the end of the procedure (VAS: 2.7±2.4 vs. 2.6±2.4, p=0.43) and upon returning to the ward (VAS:1.8±2.0 vs. 1.5±2.0, p=0.84). The difference in pain between entering the department and returning to the room after the procedure was similar between the MT and Control groups (0.3±2.5 vs. 0.3±2.4 VAS levels difference; p=0.92). CONCLUSION:Music therapy session before an ALA procedure resulted in no improvement in patient perception of pain during a first-trimester abortion.