多胎妊娠减胎术后行遗传性羊膜腔穿刺术

由于不孕症治疗的进步,多胎妊娠率上升,尤其在高龄孕妇中。为降低多胎妊娠的围产儿死亡率及新生儿病率,近年来开展了多胎妊娠减胎术。高龄孕妇合并多胎妊娠时,其胎儿染色体异常风险增加。羊膜腔穿刺术是首选的产前诊断胎儿染色体异常的方法。但减胎术及羊膜腔穿刺术均可引起妊娠胎儿丢失,因此,有时难以决断是否进行这两项操作,尤其对长期治疗后方怀孕的妇女。目前尚无既进行减胎术,又行羊膜腔穿刺术后妊娠胎儿丢失风险的确切资料。为研究高龄孕妇多胎妊娠减胎术后遗传性羊膜穿刺术的妊娠胎儿丢失率,于1986～1997年对294例年龄>30岁的多胎妊娠孕妇进行了减胎术。     

1981例高龄孕妇的产前细胞遗传学诊断

目的通过高龄孕妇产前胎儿染色体核型结果分析,探讨高龄妊娠胎儿染色体异常的风险。方法通过对高龄孕妇羊水穿刺1807例和脐带血穿刺174例染色体核型分析,探讨高龄妊娠胎儿染色体异常的比率,对比35～37岁、38～40岁、≥41岁三组孕妇胎儿染色体异常发生率,分析不同高龄组胎儿染色体异常的风险比率。结果 1981例高龄孕妇共发现胎儿染色体核型异常61例,染色体异常发生率为3.08%,且随孕妇年龄增长,胎儿染色体异常的发生率显著增高(P0.01)。结论随着孕妇年龄增长,胎儿染色体异常风险逐渐增高,高龄孕妇有必要行产前诊断。     

联合细菌人工染色体微珠技术和染色体核型分析在二孩高龄孕妇产前诊断中的应用研究

目的:探讨联合细菌人工染色体微珠技术(BoBs)和染色体核型分析在二孩高龄孕妇产前诊断中的应用。方法:选择2016年8月至2018年8月在本院遗传咨询门诊、胎儿医学门诊及孕产妇保健门诊就诊的1291例二孩高龄孕妇为研究对象,对羊水细胞的染色体进行核型分析和BoBs分析,对胎儿染色体异常及常见微缺失综合征进行诊断。结果:1291例二孩高龄孕妇羊水样本中,染色体核型分析和产前BoBs均检出染色体异常47例。产前BoBs技术共检测出61例染色体异常,包括30例21-三体,14例18-三体,3例13-三体,14例染色体微缺失/微重复,总体检出率为4.73%,漏检13例,检测失败7例;染色体核型分析检测出60例染色体异常,比BoBs额外检出10例胎儿染色体结构异常,2例低比例的嵌合型染色体以及1例标记染色体,染色体核型分析染色体异常检出率为4.65%;经两者联合检出异常81例,联合检出率为6.27%。染色体核型分析和产前BoBs共同检出的47例二孩高龄孕妇选择了终止妊娠;BoBs漏检的13例胎儿染色体结构异常均为平衡易位或倒位,经遗传咨询后均选择了继续妊娠。BoBs检测失败的7例,经遗传咨询后继续妊娠。染色体核型分析漏检的14例经遗传咨询后均选择了终止妊娠。1291例二孩高龄孕妇均获得随访,其中经染色体核型分析和BoBs检测显示正常的1210例二孩高龄孕妇,胎儿分娩后均为正常健康胎儿;BoBs漏检的13例胎儿染色体结构异常在随访中均未见异常。结论:"核型分析+BoBs"产前诊断模式可以应用于二孩高龄孕妇的产前诊断,值得临床推广和应用。     

羊水吸收机制的研究进展

妊娠期正常羊水量对维持胎儿正常生长和发育具有重要作用.羊水量异常致围产儿死亡率和围产儿发病率显著升高.认识羊水量调控机制对改善妊娠结局,有效治疗羊水量异常有重要意义.羊水吸收是羊水量调控的主要方式,膜内吸收和胎儿吞咽是羊水吸收的两个重要途径,就羊水膜内吸收,胎儿吞咽等影响羊水吸收的几方面综述.     

羊水吸收机制的研究进展

妊娠期正常羊水量对维持胎儿正常生长和发育具有重要作用。羊水量异常致围产儿死亡率和围产儿发病率显著升高。认识羊水量调控机制对改善妊娠结局，有效治疗羊水量异常有重要意义。羊水吸收是羊水量调控的主要方式，膜内吸收和胎儿吞咽是羊水吸收的两个重要途径，就羊水膜内吸收，胎儿吞咽等影响羊水吸收的几方面综述。     

经阴道超声检测高龄孕妇轻度胎儿肾盂扩张

妊娠中期经腹超声检查能发现与胎儿染色体核型异常(尤其是唐氏综合征)相关的迹象。易于测出的畸形之一是肾盂扩张,与21三体相关。高频率的阴道探头能对更早期正常及异常的胎儿肾脏系统进行检测。然而,不同的检测时间胎儿畸形发生率与胎儿染色体异常之间的关系仍不明确。为对经阴道超声检测妊娠早期轻度胎儿肾盂扩张进行评价,并对该畸形的发展及其与胎儿染色体核型异常的关系进行研究,检测1093例高龄孕妇(≥37岁),妊娠早期均作经阴道扫描,在羊膜腔穿刺时(妊娠16～18周)又作经腹扫描,不包括经首次扫描后发生自然流产、选择终止妊娠及未作羊膜腔穿刺而继续妊娠的孕妇。每例在妊娠11～16周时作经阴道扫描,妊娠     

羊水量异常的引产

正常妊娠时羊水的产生和吸收处于动态平衡中。羊水量异常与母胎合并症和并发症密切相关,直接危害围产儿安全。明确引起羊水量异常的原因,结合孕周、孕妇自觉症状的严重程度以及胎儿宫内情况,有指征并采用合适的引产方法,对改善围产儿结局具有重要意义。     

产前诊断指征在胎儿染色体异常诊断中的价值探讨

目的:探讨产前诊断指征在胎儿染色体异常诊断中的价值及其对妊娠结局的指导意义.方法:对439例有产前诊断指征的孕妇,在超声引导下经腹羊膜腔穿刺抽取羊水检查染色体核型,比较不同产前诊断指征的胎儿染色体异常检出率,分析各组染色体异常类型与妊娠结局的关系.结果:①胎儿染色体异常检出15例,总的异常检出率3.42%.夫妇平衡易位组胎儿染色体异常检出率最高为66.67%,与高龄组、唐氏高危组、不良孕产史(夫妇染色体检查正常)组比较,差异有统计学意义(P<0.05);而高龄组、唐氏高危组、不良孕产史组和超声检查异常组的胎儿染色体异常检出率分别为5.22%、2.28%、1.54%、16.67%、,组间两两比较差异均无统计学意义(P>0.05).②15例染色体异常中.高龄组占40.00%,唐氏高危组占33.33%.染色体数目异常6例,5例行孕中期引产;结构异常7例,1例行孕中期引产,1例流产;嵌合体2例均行孕中期引产;余6例足月分娩.结论:对具有产前诊断指征的孕妇进行羊水细胞培养及染色体核型分析,不仅能及时发现胎儿染色体异常,为孕妇是否继续妊娠提供科学依据,而且有利于降低出生缺陷发生率.     

胎儿胆囊发育异常的研究进展

胆囊发育异常虽少见, 但可合并染色体异常和/或并发胆道闭锁和囊性纤维化等严重并发症。常规中孕期胎儿超声筛查时, 胆囊发育异常未被充分重视, 但产前发现对生后及时诊治具有重要意义。现综述胎儿胆囊发育异常的研究进展, 包括胆囊重复、胆囊内回声物质和胆石症、异位胆囊、胆囊增大、囊性纤维化的临床特征及围产儿预后, 总结胆囊未显示的类型、发病率、临床特征、产前诊断和围产儿预后, 以期提高对胆囊发育异常产前筛查的重视。     

胎动的监测及临床意义

<正>胎动包括胎儿在子宫内所有的活动,是胎儿存在生命迹象的表现。胎动异常提示可能存在胎儿宫内状况不良,很多研究已经提示,胎动异常与围产期不良妊娠结局相关[1]。有效的胎动监测是胎儿安危的重要保障,也是产前胎儿监测的关键信号和方法。对于胎动异常的管理和及时干预,有助于识别病理妊娠,降低围产儿死亡率,改善妊娠结局,是产前妊娠管理的重要部分。1 胎动的生理规律目前通常认为正常孕妇自妊娠18～20周开始感到胎动,28～32周胎儿中枢神经系统趋     

Hemoglobin concentration in pregnancy and perinatal mortality: a London-based cohort study

OBJECTIVE: Failure of fetal growth during pregnancy, and preterm birth, are the major causes of stillbirth and early neonatal death. The objective of the study was to determine the association between maternal hemoglobin concentration during pregnancy and perinatal mortality. STUDY DESIGN: The design was prospective, using data on 222,614 first singleton pregnancies in the St Mary's Maternity Information System database in the Northwest Thames region of London. RESULTS: The association of perinatal mortality with maternal hemoglobin at first antenatal check was not statistically significant (P>.10), but a statistically significant (P<.001) U-shaped pattern was found with lowest recorded maternal hemoglobin concentration. Both early neonatal mortality and stillbirth rates were statistically significantly (P<.005) associated with lowest maternal hemoglobin concentration. The relationship of lowest hemoglobin with early neonatal mortality was largely mediated by the effect of preterm birth, and that between lowest hemoglobin and stillbirth by fetal growth restriction. The lowest perinatal mortality was associated with a lowest recorded maternal hemoglobin concentration of between 9-11 g/dL. CONCLUSION: There is an optimal range of lowest hemoglobin concentration in pregnancy, and on either side of this perinatal mortality is increased. The effect of lowest hemoglobin is largely mediated through associations with preterm birth and fetal growth restriction.     

Fetal growth sustained by parenteral nutrition in pregnancy

Severe maternal nutritional deprivation has been associated with intrauterine growth retardation, premature labor, and increased perinatal mortality and morbidity. The authors present four cases in which total parenteral nutrition was used successfully to support fetal growth in such diverse complications as twin pregnancy with maternal jejunoileal bypass, regional enteritis, and acute pancreatitis. Maintenance of fetal growth as evidenced by serial sonographic examination allows achievement of fetal lung maturation before delivery. In all the cases presented there was no perinatal mortality or morbidity. The main clinical implication of the report is the possible application of total parenteral nutrition to maintain adequate growth in fetuses small for gestational age because of maternal nutritional deprivation.     

Prenatal maternal stress, prenatal fetal movements and perinatal temperament factors influence behavior and school marks at the age of 6 years

Niederhofer showed in 1994 that maternal stress during pregnancy seemed to be associated with temperament in early childhood. This study examined the correlation between maternal stress during pregnancy in 227 women, ultrasound observation of intrauterine fetal movements, the child's temperament in early childhood, and the child's school marks at the age of 6 years. Our results show a significant correlation between prenatal maternal stress, perinatal temperament of the child and his/her school marks at the age of 6 years. Only intrauterine fetal movements were associated neither with stress during pregnancy nor with early personality.     

Obesity and diabetes: A recipe for obstetric complications

The prevalence of obesity has been increasing worldwide and has reached epidemic proportions in the United States, where well over 20% of the population have a body mass index (BMI) within the obese range. Obesity is associated with a wide spectrum of obstetric and perinatal complications, including increased risks of fetal mortality and morbidity, congenital malformations, maternal hypertensive disorders, gestational diabetes, excessive fetal growth and cesarean delivery. The odds ratios for these risks increase in direct correlation with the severity of obesity, and are significant even among women who are overweight without meeting criteria for obesity. Although obesity is closely associated with diabetes which, in itself, is associated with similar perinatal complications, diabetes and obesity are independent risk factors for adverse pregnancy outcome. Moreover, improving glycemic control in the pregnant woman with diabetes may mitigate the additive adverse effects of diabetes and obesity on pregnancy outcome.     

双胎之一胎死宫内的诊治

随着促排卵技术和辅助生殖技术的发展，多胎妊娠发生率逐年增多。与单胎妊娠相比，多胎妊娠围产儿病死率更高。双胎之一胎死宫内属于双胎妊娠的严重并发症，一胎死亡后会对存活胎儿有潜在、长期的影响，可引起存活胎儿死亡、神经系统损伤、早产及相关后遗症等，因此，孕期应加强母儿监护。及时诊断和处理是改善围产儿结局的关键。     

Obesity and diabetes: A recipe for obstetric complications.

The prevalence of obesity has been increasing worldwide and has reached epidemic proportions in the United States, where well over 20% of the population have a body mass index (BMI) within the obese range. Obesity is associated with a wide spectrum of obstetric and perinatal complications, including increased risks of fetal mortality and morbidity, congenital malformations, maternal hypertensive disorders, gestational diabetes, excessive fetal growth and cesarean delivery. The odds ratios for these risks increase in direct correlation with the severity of obesity, and are significant even among women who are overweight without meeting criteria for obesity. Although obesity is closely associated with diabetes which, in itself, is associated with similar perinatal complications, diabetes and obesity are independent risk factors for adverse pregnancy outcome. Moreover, improving glycemic control in the pregnant woman with diabetes may mitigate the additive adverse effects of diabetes and obesity on pregnancy outcome.     

The challenges of diagnosis and treatment of malaria in pregnancy in low resource settings

Malarial infestation in pregnancy is a major public health concern in endemic countries and ranks high amongst the commonest complications of pregnancy, especially in large areas of Africa and Asia. It is an important preventable cause of significant maternal morbidity and mortality with associated fetal as well as perinatal wastage. The burden of malaria is greatest in sub-Saharan Africa where it contributes directly or indirectly to maternal and perinatal morbidity and mortality. The need for prompt and accurate diagnosis as well as prevention and treatment of malaria during pregnancy cannot, therefore, be overemphasized. This commentary focuses on the challenges of diagnosis and treatment of malaria in pregnancy.     

Maternal smoking, pregnancy complications, and perinatal mortality

Analysis of data from the Ontario Perinatal Mortality Study has shown that perinatal mortality increases directly with the level of maternal smoking during pregnancy. Increases in smoking level are associated with increases in the frequency of early fetal deaths and of neonatal deaths due to premature delivery. These deaths in turn are associated with smoking-related increases in the incidence of bleeding during pregnancy, abruptio placentae, placenta previa, and premature and prolonged rupture of the membranes.     

The perinatal management of pregnancy complicated by massive intracerebral hemorrhage

A pregnancy complicated by massive intracerebral hemorrhage with resultant maternal and fetal problems is presented. Aggressive maternal care, fetal surveillance, and perinatal management resulted in a successful outcome.     

Pregnancy outcome in women with pre-existing lupus nephritis.

The aim of the present study was to assess the fetal and maternal outcome in a cohort of patients with lupus nephritis. Twenty-four pregnancies in 22 women with lupus nephritis occurring between 1991 and 2000 were analysed retrospectively. Lupus nephritis was biopsy proven before pregnancy in all cases. Women were followed from the beginning of pregnancy up to 6 months postpartum. Close fetal-maternal monitoring and frequent laboratory investigations were applied routinely to all patients. All women were prescribed steroid therapy from the beginning of the pregnancy. There were 18 live births, four spontaneous abortions and two stillbirths. Of the 18 live births, 14 were premature and four were term deliveries, representing a 25% fetal loss rate and 58% prematurity rate. There were two fetuses with congenital heart block. We recorded hypertension in 42%, proteinuria in 50% and pre-eclampsia in 25% of our patients. Proteinuria was irreversible in four cases. No maternal deaths or postpartum exacerbation of the disease were recorded in the study period. All renal flares were reversed postpartum. Patients positive for antiphospholipid antibodies had a worse perinatal outcome. Hypertension, proteinuria and antiphospholipid antibodies appear to be associated with adverse perinatal outcome and pregnancy complications. Pregnancy is not contraindicated in women with lupus nephritis, but is associated with significant fetal and maternal risks.