产前基因诊断预测地中海贫血胎儿的价值分析

目的：探讨产前基因诊断预测地中海贫血胎儿的价值。方法选取本院2010年1月~2013年12月65例父母为地中海贫血基因携带的胎儿为受试对象,均抽取羊水给予产前基因诊断,引产或分娩后留取脐带血检验诊断准确性。结果65例风险胎儿中诊断为地中海贫血者48例,其中--SEA/--SEA型10例,-αSEA/αα和CD41-42/CD41-42各3例,-α3.7/αα、-αα1/αα、CD41-42/-α3.7和-α4.2/αα各检出2例,CD41-42/(-CTTT)型检出19例,-28(A→G)型检出5例。48例产前基因诊断为地中海贫血胎儿中,引产率为26.8%,分娩率为73.2%,其中--SEA/--SEA型的10例胎儿引产8例,分娩2例;-αSEA/αα和CD41-42/CD41-42均引产2例,分娩1例;CD41-42/-α3.7均引产;剩余胎儿均成功分娩;所有胎儿脐带血检测结果与产前羊水基因检测结果一致。结论对地中海贫血携带夫妇孕育的高风险胎儿予以产前基因检测,准确率较高,对优生优育等具有积极意义,值得临床推广。     

福州地区α地中海贫血产前基因诊断分析

目的 对夫妇双方都是α地中海贫血携带者进行产前基因诊断,以杜绝重型α地中海贫血患儿的出生.方法 应用单管多重PCR体系对孕妇夫妇携带α地中海贫血的19例风险胎儿的羊水(或脐血)进行α地中海贫血基因诊断.结果 19例胎儿东南亚缺失型杂合子(--SEA/αα)3例,右缺失型杂合子(-α3.7/αα)2例、左缺失型杂合子(-...     

基因测序在β地中海贫血稀有突变患者产前诊断中的应用

目的：应用直接基因测序为β地中海贫血稀有突变患者进行产前基因诊断。方法：产前行常规血液学筛查,对怀疑β地中海贫血的患者行反向点杂交检测常见的17种突变,对未发现突变的患者采用直接基因测序,确证是否携带β地中海贫血稀有突变,对同时携带稀有β地中海贫血基因突变的夫妇取孕妇脐血或行羊水产前基因诊断。结果：为两对携带稀有β地中海贫血基因突变的夫妇行产前基因诊断,其中一对夫妇的丈夫为CD41-42（-TTCT）杂合突变,孕妇为CD6（GAG→AAG）/N杂合突变,胎儿羊水为CD6（GAG→AAG）/N杂合突变;第二对夫妇的丈夫为CD22（GAA→GCA）/N杂合突变,孕妇为CD56（GGC→GAC）/N杂合突变,胎儿脐血未发现突变。结论：联合反向点杂交和直接基因测序技术可为携带稀有β地中海贫血基因突变的夫妇提供产前基因诊断。     

2506例不孕不育患者地中海贫血基因分型分析

目的 调查某院生殖医学中心就诊的不孕不育患者中地中海贫血基因的携带情况、基因突变类型及构成比,制定有效可行的地中海贫血防治计划,有效降低地中海贫血的发病率,为达到“优孕”的目的提供参考.方法 采用聚合酶链反应(PCR)法、跨越断点PCR方法和导流杂交技术对某院就诊地中海贫血血液学筛查阳性的不孕不育患者进行地中海贫血基因分析.结果 2 506例疑似病例中检出942例地中海贫血基因携带者,检出率为37.59％;其中654例为α地中海贫血基因携带者,占69.43％,检出11种α地中海贫血基因型,以--SEA/αα(72.32％)、-α3.7/α α(15.75％)和-α 4.2/α α(3.67％)三种缺失型α地中海贫血基因最常见;β地中海贫血基因携带者占28.77％,15种β地中海贫血基因突变类型中共检出13种,突变频率较高的前3位依次为IVS-2-654(38.75％)、CD41-42(29.89％)、CD17(10.70％);复合型地中海贫血基因携带者占1.80％,检出12种复合型地中海贫血基因类型,以-α3.7/α α复合CD17/N最多见,占23.53％.结论 安徽医科大学解放军174临床学院生殖医学中心就诊的不孕不育患者地中海贫血发生率较高,α地中海贫血以缺失型-SEA/αα基因型最为常见,β地中海贫血则以IVS-2-654 (C-T)位点的突变最为常见.应加强对不孕不育患者地中海贫血血液学筛查和基因诊断,以预防重型地中海贫血患儿的出生,达到“优孕”的目的.     

地中海贫血产前筛查及基因诊断的研究

目的调查分析本地区孕妇地中海贫血发病率、基因类型,探寻地中海贫血产前可靠的诊断证据。方法对2009年3月至2013年2月4250例在我院所有进行产前检查的孕妇中开展广泛的血液学检查,对检测阳性的患者进行基因检查,并对孕妇的配偶进行筛查。对夫妻双方都患有同种类型地中海贫血的进行产前诊断,怀疑为β地中海贫血的夫妻进行β基因突变测序、比对,探究未知的突变基因。结果4250例孕妇中确诊地中海贫血有248例,发病率为5.8%,其中α地中海贫血有130例,发病率3.05%;β地中海贫血患者有118例,发病率2.73%。产前诊断重型地中海贫血患儿8例。血液学检测RBC、Hb、MCV、RDW、HbA2在α、β、α/β和β/β间差异有统计学意义(P<0.05)。结论本地区α地中海贫血发病率比α地中海贫血高,血液学指标中的红细胞参数以及血红蛋白定量检测是筛查本病的重要指标。通过对孕妇进行地中海贫血的产前筛查,可以确诊重症患儿来及时终止妊娠,避免重症患儿的出生。     

某省户籍孕妇地中海贫血的产前筛查及产前诊断的实验研究

目的探讨贵州省户籍孕妇地贫的分子缺陷情况,探索可用于临床一线的地贫产前筛查指标和产前诊断技术,并将其应用于贵州省地贫孕妇的产前筛查和产前诊断中,以降低我省重症地贫患儿出生率,提高人口质量。方法选择在贵州省人民医院进行产前检查孕18周以前的贵州省户籍孕妇1089例,分析红细胞指标(RBC、Hb、MCV、MCH)和血红蛋白电泳(Hb A2)值,异常者纳入疑似病例;筛查出双方均有地贫表型阳性的夫妇,提取基因组DNA,gap-PCR法同时检测-α3.7、-α4.2和--SEA/αα3种最常见的α-地贫缺失突变类型,RDB法检查中国最常见的17种β-地贫突变基因和3种α-地贫突变基因,确定基因型;双方确定为同型地贫的夫妇,经知情同意后,孕妇于16~24周行羊膜穿刺抽取羊水20 m L,常规提取胎儿基因组DNA,用上述基因检测方法检测胎儿是否地贫。如胎儿为轻型地贫,可向孕妇提出合理化建议。如胎儿为中重型地贫,建议孕妇终止妊娠;分娩后取胎儿组织提基因组DNA,检测地贫基因型以进一步证实产前诊断的结果。结果 1红细胞指标和血红蛋白电泳初步筛查地贫孕妇78例,初筛阳性率7.16%(78/1089);基因诊断确诊53例,筛查阳性确诊率67.9%(53/78)。2两种地贫孕妇的RBC均高于正常孕妇(P<0.01)。3两种地贫的Hb、MCV、MCH均低于正常孕妇(P<0.01)。4α-地贫孕妇的Hb高于β-地贫孕妇(P<0.01),而Hb A2低于β-地贫孕妇(P<0.01)。5α-地贫20例,发生率1.84%(20/1089),β-地贫33例,发生率3.03%(33/1089)。6本实验中贵州户籍孕妇α-地贫最常见的基因型是--SEA/αα,β-地贫最常见的基因型是17/N。7 7例孕妇羊水穿刺检测胎儿地贫基因,6例与胎儿脐血检测结果一致(1例仍在妊娠)。结论 1孕早中期的孕妇进行红细胞指标和血红蛋白电泳检查可以初步筛查地贫并初步区分地贫类型。2贵州省户籍孕妇β-地贫发生率较α-地贫发生率高,β-地贫最常见的基因型是17/N,α-地贫最常见的基因型是--SEA/αα。3地贫羊水基因诊断符合率高,我省孕妇可以将地中海贫血的筛查作为常规产前检查。     

地中海贫血筛查在产前检查中的临床应用研究〔1〕

目的:探讨地中海贫血筛查在产前检查中的临床运用效果。方法:选取2015年7月—2015年12月320例孕妇作为研究对象,所有孕妇进行产前地中海贫血筛查,对地中海贫血阳性标本进行基因诊断,基因诊断的孕妇,再对其丈夫进行地中海贫血筛查诊断,对于夫妇为同型地中海贫血者行产前诊断。统计地中海贫血筛查结果、基因诊断结果及产前诊断结果。结果:320例孕妇进行地中海贫血筛查,共筛查出阳性患者39例,占12.2%。采用基因诊断共确诊地中海贫血患者36例,占11.3%。采用地中海贫血筛查α地中海贫血的阳性率、β地中海贫血阳性率与基因诊断的确诊率比较,差异无统计学意义(P>0.05)。夫妇为同型地中海贫血的共7例,经产前基因诊断,重症地中海贫血2例,占28.6%。结论:地中海贫血筛查能有效辅助地中海贫血的诊断,及时发现重症胎儿,可在产前检查中推广运用。     

河南省8个家系β地中海贫血基因突变类型检验

目的　探讨河南省β地中海贫血 (β地贫 )基因突变类型及其基因诊断方法。方法　综合应用MOEA及巢式PCR等新技术 ,设计了针对中国人β地贫最常见的 5种基因突变的检测方法。 结果　完成了河南籍 8个家系成员的基因筛查诊断 ,14条β地贫阳性染色体的检测结果为IVS -Ⅱ -65 4(C→T) 5条 ,CD41-4 2 (-TTCT) 3条 ,TATAbox -2 8/-2 92条 ,CD17(A→T) 2条 ,另 2条染色体突变性质不清。检出率达 85 7%。对 2例高危胎儿作了产前诊断 ,基因型分别为IVS -Ⅱ -65 4/A和CD41-4 2 /A ,建议继续妊娠 ,经产后取材验证 ,结果与产前诊断一致。结论　提示河南省β地贫基因突变的种类与频率和我国南方诸省基本相同 ;应用本文设计的方法可对 90 %以上中国人 β地贫快速作出基因诊断和产前诊断     

利用计划生育三级服务网络对某区地中海贫血群体干预的实践探索

目的依托完善的计划生育三级服务网络建立地中海贫血干预网络,以达到显著减少番禺区重症地中海贫血患儿出生的目的。方法利用计划生育服务网络的广覆盖性,动员组织番禺区符合计划生育政策的新婚和待孕夫妇参加地中海贫血筛查,通过红细胞体积(MCV)和平均血红蛋白浓度(MCH)初筛,阳性对象用高效液相色谱法(HPLC)进行血红蛋白分析和地中海贫血基因诊断,对地中海贫血基因携带者和高风险家庭进行遗传咨询,高风险胎儿知情选择产前基因诊断。对新生儿情况进行随访,评价干预的准确性。结果全番禺区共筛查28 024个家庭,地中海贫血高风险家庭108个,其中95个家庭进行了产前诊断,确诊重症地中海贫血18例,均终止妊娠。随访显示出生的21 900例新生儿中,无1例重症地中海贫血患婴出生。结论依托于完善的计划生育三级服务网络进行地中海贫血预防和监控模式,建立大人群筛查基础上的前瞻性诊断方式,可以取得良好的成效,是降低本地区重症地中海贫血患儿出生率的有效途径。     

河源市地中海贫血防控计划的实施效果分析

目的通过对婚前期、孕期夫妇地中海贫血(以下简称"地贫")检测数据回顾性分析评价河源市妇幼保健院地贫防控计划的实施效果。方法回顾性分析2016年1月~2018年12月在我院参加婚前检查、产前检查的夫妇关于地贫表型筛查的临床资料及数据,共2686例,了解其地贫筛查、基因诊断、产前诊断及妊娠结局情况。结果本组有1914例地贫血液学表型阳性者,其中同型基因309对、非同型基因89对、地贫高危夫妇307对。307例高风险胎儿中259例进行产前诊断,48例拒绝产前诊断。地贫产前诊断结果显示正常胎儿77例、静止型α地贫23例、标准型α地贫73例、标准型β地贫31例、中间型α地贫13例、中间型β地贫5例、重型α地贫32例、重型β地贫5例,其中37例重度地贫均选择终止妊娠,中间型地贫11例选择终止妊娠。结论广东省河源市妇幼保健院地贫防控计划有效减少中重度地贫新生儿出生,提高了本地区出生人口素质,为进一步制订人群地贫防控计划提供了依据。     

Evaluation of prenatal vitamin-mineral supplements

Nutritional requirements of pregnancy are reviewed, and guidelines for evaluating prenatal vitamin-mineral supplements are provided. Daily antepartum supplementation of 0.4-0.8 mg of folic acid and 30-60 mg of elemental iron is currently recommended, although the lower ends of these ranges may be most appropriate. Dietary intake of these nutrients is likely to be inadequate without supplementation, and their importance is well established. Requirements for other minerals and vitamins are not well established, and there is no consensus on the need for supplementation. However, available data suggest that prenatal supplements should probably contain other nutrients; pyridoxine hydrochloride, cholecalciferol, vitamin E, pantothenic acid, calcium, magnesium, zinc, copper, and possibly selenium should be considered. Interactions among the minerals and vitamins commonly found in prenatal supplements may affect the absorption of various nutrient components. Thus, very high or low levels of certain nutrients should be avoided. The chemical form of minerals should also be considered. Products should have demonstrated bioavailability for iron, zinc, and other components that are subject to bioavailability problems. Use of low-potency product that contains a wide range of vitamins and minerals appears to be the most prudent approach to prenatal vitamin and mineral supplementation.     

Neurochemical effects of prenatal haloperidol exposure

The neurochemical effects of prenatal exposure to dopamine receptor antagonists are as yet poorly characterized. To further examine this problem, pregnant rats were given daily subcutaneous injections of vehicle, 2.5 or 5.0 mg/kg haloperidol over gestational days 6 through 20. Membrane binding of [3H]SCH-23390 (D1-specific) and [3H]spiroperidol (D2-specific in most brain areas) was measured in four regions of the cerebral dopamine system at postnatal day (PND) 30. Dopamine (DA) and 3,4-dihydroxyphenylacetic acid (DOPAC) levels were measured in caudate on PND 30 following a d-amphetamine challenge. Prenatal haloperidol exposure reduced [3H]SCH-23390 and [3H]spiroperidol binding in caudate in a dose-dependent manner. [3H]Spiroperidol binding was similarly reduced in nucleus accumbens, but only the low dose (2.5 mg/kg) group showed decreased [3H]SCH-23390 binding in this region. Binding of neither compound was significantly altered in amygdala or frontal cortex. Basal or drug-stimulated levels of caudate DA and DOPAC were unaltered. It is concluded that prenatal haloperidol exposure reduces D1 and D2 binding in some, but not all regions of the forebrain dopamine system.     

Behavioral effects of prenatal haloperidol exposure

Pregnant albino rats were exposed to vehicle (CON), 2.5 mg/kg (LOW) or 5.0 mg/kg (HIGH) haloperidol (HAL) from the sixth through the twentieth day of gestation. The effect of prenatal HAL exposure on offspring was assessed with the following five behavioral measures: 1) milk-induced behavioral activation on the sixth postnatal day (PND 6), 2) shock-precipitated wall climbing (PNDs 9, 11, 13, 15 and 17), 3) amphetamine-induced stereotypies (PND 30), 4) apomorphine-induced stereotypies (PND 30) and 5) duration of barbiturate anesthesia (PNDs 34 and 62). Measures taken very early in life indicated that prenatal HAL reduced arousal. Inactivity scores were elevated in HAL-exposed pups on PND 6 during milk-induced behavioral activation. Shock-precipitated wall climbing was reduced in the HAL animals on PNDs 9 and 11, but not thereafter. At PND 30, no prenatal treatment effect was detectable on stimulant-induced stereotypies or on duration of barbiturate anesthesia. On PND 62, barbiturate anesthesia duration was significantly reduced in both sexes of HIGH HAL animals. These findings suggest that prenatal HAL effects follow a dynamic, changing course as the exposed rat pup matures. Early reductions in arousal (milk-induced behavior and shock-precipitated wall climbing) wane with age, perhaps to be replaced by an actual increase in arousal as HAL pups approach adulthood.     

The effects of prenatal alcohol exposure

Exposure to alcohol during gestation can cause persistent abnormalities in physical and cognitive development. Children who meet the clinical definition of fetal alcohol syndrome (FAS) are small for their age, exhibit characteristic facial anomalies, and demonstrate deficits in central nervous system development. Alcohol effects in children with prenatal exposure, but not FAS, are similar, although of smaller magnitude and not necessarily present in all three systems. The degree to which a person is affected by prenatal alcohol exposure depends on the amount, timing, and duration of the mother's alcohol consumption during pregnancy as well as maternal characteristics (e.g., age and comorbid psychiatric disorders) and environmental factors (e.g., socioeconomic status and family problems). Some exposure-related effects, such as growth deficits, are directly related to the amount of alcohol consumed, however, so that even a small amount of alcohol may affect child development. Therefore, the best policy continues to be abstinence during pregnancy.     

不同方法预测巨大儿的相关分析

目的探讨常用巨大儿预测公式的临床价值,寻找预测巨大儿的最佳方法。方法回顾性分析121例巨大胎儿的临床病案,选择同期体重正常胎儿102例作为对照组。用统计学方法计算7种公式的敏感度,特异度,阳性预测值,阴性预测值和约登指数,用以分析较好的预测指标。结果宫高法敏感度24%,特异度99%,阳性预测值96.7%,阴性预测值52.3%,约登指数0.21。宫高加腹围联合法敏感度59.5%,特异度78.4%,阳性预测值76.6%,阴性预测值62%,约登指数0.38。双顶径≥9.5cm法敏感度69.4%,特异度77.5%,阳性预测值78.5%,阴性预测值68.1%,约登指数0.47。双顶径加股骨长≥16.5 cm法敏感度84.3%,特异度48%,阳性预测值65.8%,阴性预测值72.1%,约登指数0.32。股骨长≥7.5 cm法敏感度19%,特异度94.1%,阳性预测值79.3%,阴性预测值49.5%,约登指数0.13。胎儿腹围≥35 cm法敏感度53.7%,特异度87.3%,阳性预测值83.3%,阴性预测值61.4%,约登指数0.41。胎儿腹围加股骨长≥42.5 cm法敏感度44.6%,特异度91.2%,阳性预测值85.7%,阴性预测值58.1%,约登指数0.36。结论双顶径≥9.5 cm法和胎儿腹围≥35 cm法是较好的预测指标,单纯公式预测均有局限性,应综合评估。     

孕期保健对妊娠期糖尿病的影响

目的研究孕期保健在妊娠期糖尿病中的作用。方法以前来医院做孕期保健并住院分娩的20例妊娠合并糖尿病的孕妇(无其它合并症)为实验组,以来该院住院分娩而未做孕期保健的妊娠合并糖尿病(无其它合并症)的20例孕妇为对照组,来分析孕期保健对妊娠期糖尿病的影响。结果两组孕妇的孕期经过顺利情况、难产发生率、新生儿窒息发生率存在明显差异(P<0.05)。结论孕期保健有利于妊娠期糖尿病孕妇顺利度过妊娠,安全分娩,降低围产儿的死亡率。