小头畸形产前诊断与管理的研究进展

小头畸形是指胎儿头围明显小于同孕龄胎儿正常头围,可能是一种正常变异,也可能是神经系统畸形的标志.目前临床缺乏统一的诊断标准,不同原因以及不同程度的小头畸形预后差别很大,其中环境暴露和遗传因素是小头畸形最常见的原因.近年来,随着影像学及二代测序技术的快速发展,小头畸形的产前诊断水平相应提高.本综述比较了小头畸形不同诊断标...     

小头畸形胎儿的产前超声诊断

目的：探讨小头畸形胎儿的产前超声诊断。方法：分析2例小脑畸形胎儿的超声图像特征。结果：本组胎头双顶径及头围小于相同孕周正常胎儿均数的3个标准差或以上：前额后缩;额叶缩小;双侧脑室扩大。结论：小头畸形胎儿有特征性超声表现,产前超声可作出渗断。     

三维超声在胎儿小头畸形诊断中的应用

目的：探讨三维超声在胎儿小头畸形诊断中的应用价值。方法：应用二维及三维超声对行产前超声筛查的84671例孕妇中5例小头畸形胎儿头颅进行检查及图像分析。结果：二维超声检查显示5例小头畸形胎儿双顶径（ BPD）及头围（ HC）均比实际孕周均值小3个标准差以上,三维重建显示异常胎儿的颅缝变窄及前囟、后囟消失接近闭合。结论：三维超声能在二维超声诊断胎儿小头畸形的基础上提供更多头颅的诊断信息,其能直观、形象地显示小头畸形胎儿颅骨、前囟及后囟的立体形态,对诊断及评价小头畸形的预后,指导临床干预有不可忽视的作用,是二维超声检查的重要补充。     

B超诊断胎儿小头畸形二例

Ｂ超诊断胎儿小头畸形二例第二附属医院妇产科梁雄，王瑞荣，董秀珠关键词超声检查，产前，小头畸形，病例报告随着超声诊断技术的不断提高，超声检查已成为目前诊断胎儿畸形的首选方法。胎儿小头畸形国内报道少，发病率很低。我院通过产前Ｂ超检查发现２例胎儿小头畸形，...     

产前及出生后早期3-磷酸甘油酸脱氢酶缺乏症的治疗

3-磷酸甘油酸脱氢酶(3-PG DH)缺乏症是一种L-丝氨酸生物合成紊乱所致的疾病,以先天性的小头畸形、严重的精神运动性迟滞及顽固的癫痫发作为特征。本研究报道了1例使用D NA突变分析进行产前诊断的3-PG DH胎儿。超声显示胎儿头围从胎龄20周的第75百分位数下降至胎龄26周的第29百分位数。在给予母亲L-丝氨酸治疗后的第31周时,胎儿的头围增大到第76百分位数。出生后,该女婴的头围正常。随访48个月,其精神运动发育基本正常。3-PGD H缺乏症是一种可以在产前被成功治疗的先天性代谢障碍疾病。产前及出生后早期3-磷酸甘油酸脱氢酶缺乏症的治…     

产前超声检查在胎儿心血管畸形诊断中的应用价值

目的 研究产前超声检查在胎儿心血管畸形诊断中的应用价值。方法 选取2019年5月—2021年11月于丰城市人民医院接受产前检查的1 635例孕产妇作为临床观察对象。均接受产前超声检查,并持续随访,正常分娩的胎儿接受产后心脏超声、心血管造影等检查明确诊断,引产者进行病理检查。将产后检查结果视作“金标准”,统计产前超声对胎儿心血管畸形的检出率,对产前超声检查诊断胎儿心血管畸形的诊断效能进行评估,并分析胎儿心血管畸形类型分布情况。结果 1 635例孕产妇中,通过产后检查发现86例胎儿有心血管畸形,心血管畸形检出率是5.26%(86/1 635);产前超声检查确诊77例胎儿有心血管畸形,产前超声诊断胎儿心血管畸形的灵敏度、特异度及准确度分别是89.53%(77/86)、98.52%(1 526/1 549、)98.04%(1 603/1 635);产前超声检查发现胎儿心血管畸形多见为室间隔缺损、法洛四联症、右室双出口及肺动脉狭窄等类型,整体诊断符合率是89.53%(77/86)。结论 产前超声检查在胎儿心血管畸形临床诊断中存在较高的应用价值,能更好地发现和检出胎儿心血管畸形,提升临床诊断准确度...     

产前超声对胎儿畸形的诊断价值

目的探讨产前超声对胎儿畸形的临床诊断价值及对可能存在的畸形漏诊情况进行分析,为临床有效诊断提供重要参考依据。方法选取2016年5月至2016年11月期间在我院经产前超声诊断并有完整记录的4875例胎儿中经分娩引产证实为先天性畸形的260例胎儿作为研究对象,结合产后胎儿畸形病理情况,回顾性分析其产前超声检查情况。结果 260例先天性畸形胎儿产前超声符合率为96.9%(252/260),漏诊8例。结论产前超声检查确实可以实时监测胎儿各器官的发育情况,对于胎儿畸形的早期诊断具有重要意义,值得推广应用。但是产前B超筛查畸形也具有一定的局限性,其检查结果受很多因素的干扰。所以,如何提高产前超声胎儿畸形的检出率值得研究。     

产前B超检查对胎儿骨骼肢体畸形的诊断分析

目的探讨产前B超检查对胎儿骨骼肢体畸形的诊断应用价值。方法选择2007年1月至2017年1月本院收治的68例胎儿骨骼肢体畸形的妊娠妇女,回顾性分析其临床资料及影像学资料,分析产前B超检查,观察产后胎儿临床表现及X线片诊断结果,并进行比较。结果产前B超检查胎儿骨骼肢体畸形检出率97%,与X线或病理证实结果比较差异无统计学意义(P>0.05);观察到35例胎儿头围超过2s,46例合并羊水过多,52例羊水指数超过18 cm,且有30例合并胸腔狭小、心脏结构异常;20~24周检出33例,25~36周检出31例,37~40周检出4例。结论加强产前B超检查利于诊断胎儿骨骼肢体畸形,实现尽早预防和处理,降低畸形胎儿出生率,值得推广应用。     

超声实时显象诊断胎儿畸形(附125例分析)

产前应用B型超声诊断胎儿畸形125例,经临床观察,诊断符合率为97.6%,本文介绍了各种胎儿畸形的超声声象图的特点,认为精通胎儿解剖学,熟悉正常形态,超声检查全面、仔细观察,部分畸形产前多能做出诊断。     

系统超声对11～13~(+6)周胎儿进行畸形筛查的应用现状

以往胎儿的结构畸形主要在18～24周进行系统筛查检出,随着中孕期胎儿系统筛查的诊断水平不断提高,仪器设备的越来越先进,使检出11～13~(+6)周胎儿多数严重的胎儿结构畸形成为可能。本文就该时期对胎儿进行规范化筛查,对该时期的胎儿染色体异常软指标的检出、严重的胎儿结构畸形有较高的诊断价值,明显地提早了胎儿畸形的检出时间,有效地减少了孕妇心理和生理的伤害。本文通过对11～13~(+6)周胎儿进行规范化的标准切面筛查对胎儿畸形的诊断价值做一综述,为临床上及时治疗与处理及孕妇的产前咨询提供科学的临床依据,使孕妇更早的决定妊娠结局,保障母亲和胎儿尽可能最好的妊娠结果。     

Early prenatal diagnosis of Meckel syndrome--a case report

Meckel syndrome is a rare autosomal recessive disorder. The triad of the syndrome consists of occipital encephalocele, polycystic kidneys and postaxial polydactyly. At least two of these features are essential for the diagnosis, but other malformations such as microcephaly, cleft palate and ambiguous genitalia may also be present. The condition is considered invariably fatal. This report demonstrates that the prenatal diagnosis can in principle be established by ultrasound examination alone, and as early as 13 weeks' gestation.     

无创胎儿DNA检测假阳性对产前诊断的影响分析

无创胎儿DNA检测(non-invasive prenatal testing, NIPT)假阳性是导致增加额外的产前诊断和孕妇依从性降低的重要原因,还可能带来非必要的引产。本文就无创胎儿DNA检测假阳性对产前诊断的影响分析进行综述,通过分析NIPT假阳性的原因,在临床应用中结合不同孕妇的个体情况,为个体化、规范化的产前诊断提供指导和理论依据。     

Second-trimester diagnosis of osteogenesis imperfecta associated with schizencephaly by sonography

Osteogenesis imperfecta is a congenital connective tissue disorder characterized with multiple bone fractures, short limbs, membranous calvarium with wormian bones, and sometimes blue sclerae. Osteogenesis imperfecta is rarely accompanied by other major malformations. Although associations with microcephaly, congenital heart defects or anencephaly have been reported previously, association with schizencephaly was not found on literature review. We report a case of osteogenesis imperfecta associated with schizencephaly diagnosed at 21 weeks of gestation using 2-dimensional ultrasound. The present case shows that prenatal ultrasonographic examination is a very important tool to detect such intrauterine abnormalities in which, management of pregnancy would be changed significantly compared to normal pregnancies.     

Alobar holoprosencephaly: report of two cases with unusual findings

Holoprosencephaly, a disorder resulting from failure of cleavage or incomplete differentiation of the forebrain structures at various levels or to various degrees, is related to hereditary factors, chromosomal anomalies, cytogenetic abnormalities, and environmental teratogenic factors. We report on 2 cases of alobar holoprosencephaly, with similar physical findings, including microcephaly, microphthalmia, cebocephalus, choanal atresia, pseudo cleft palate, distended abdomen, and acrocyanosis. The brain echogram of these 2 patients demonstrated fused thalami and a single large U-shaped ventricular cavity. Chromosome studies of these 2 patients were normal. The findings of the autopsies confirmed the clinical presentations. One of our cases had a clinical picture similar to that of holoprosencephaly-polydactyly syndrome. The other had the rare anatomical finding of a polylobuated spleen. Because of the poor prognosis of alobar holoprosencephaly, early prenatal diagnosis is recommended.     

Prenatal cytogenetic diagnosis: medical and social implications. Indications, acceptance by doctors and patients, impact and cost: a 10-year review

Prenatal cytogenetic diagnosis has been in widespread use for a decade, and access to it has been determined by medical attitudes towards what constitutes "high risk", and by pragmatic questions about the logistics of delivering a new diagnostic test to as many couples as costs will allow. The most common indication - advanced maternal age - has led to different access criteria in various parts of Australia. Factors such as socioeconomic status, education, and religion affect the acceptance of prenatal cytogenetic diagnosis from the point of view both of patients and of the doctors who care for them. Cost-benefit analyses conducted elsewhere indicate that, in purely monetary terms, it is probable that prenatal cytogenetic diagnosis is cost-effective if offered to all couples in which the woman is over the age of 32 years. An assessment of the impact of prenatal cytogenetic diagnosis on the birth incidence of major chromosomal abnormalities, particularly Down's syndrome, indicates that the maximum reduction which might be achieved in current practice is 30%.     

B超诊断胎儿畸形的临床价值分析

目的探讨B超诊断胎儿畸形的临床价值。方法以该院分娩的12899例产妇中154例畸形胎儿产妇为研究对象,对其产前B超诊断过程进行回顾性分析,总结诊断的准确率,并对造成误诊的原因进行分析。结果 B超诊断在严重畸形胎儿的产前诊断的检出率为82.2%。在趾、指、口、耳等部位的小畸形胎儿诊断的检出率仅有7.4%,经比较差异有统计学意义(P<0.05)。对导致胎儿畸形的原因进行分析,羊水量、孕妇合并癫痫、梅毒等与胎儿畸形有显著的相关性。结论 B超在产前胎儿畸形的诊断中具有安全性好,准确率高等优势,在诊断中具有重要价值。     

First trimester prenatal diagnosis: earlier is not necessarily better.

In the past few years considerable attention has been given to a relatively new method of prenatal diagnosis known as chorionic villus sampling (CVS). Because CVS can be performed in the first trimester it is hailed by many as a significant advance over amniocentesis. What has not been as publicized, however, are the disadvantages of CVS and earlier prenatal diagnosis. The emotional costs of CVS in terms of the greater number of both spontaneous and selective abortions following CVS, the use of CVS for sex selection and, because of the greater social acceptability of first trimester abortion, the possibility of increased pressure on women to undergo prenatal diagnosis by health insurance companies, medical professionals and government agencies, all need to be weighed against the advantages of early prenatal diagnosis.     

New trends in prenatal screening for chromosomal abnormalities

In the recent years, the scope of prenatal genetic diagnosis has expanded greatly with the development of a number of new methods, such as maternal serum screening and ultrasound screening for detection of fetal abnormalities. These methods have the advantage of providing earlier diagnosis in addition to being non-invasive and of less psychological traumas. Pre-implantation genetic diagnosis is another new growing field offering the genetic diagnosis prior to implantation. The most promising of all is the first trimester biochemical screening in conjunction with ultrasound nuchal translucency screening.     

介入性产前诊断技术实施中的心理护理体会

目的对介入性产前诊断技术实施中孕妇心理进行初步探讨，为做好产前诊断心理护理提供依据。方法采用焦虑自评量表（SAS），在来本院产前诊断中心行介入性产前诊断技术的孕妇中进行调查，给孕妇讲明调查表的填写方法，由孕妇本人填写。结果行介入性产前诊断的孕妇皆有高危指征，其心理较健康孕妇复杂，针对其心理分析表明，50％的孕妇恐惧自身损伤，77．6％的孕妇焦虑胎儿损伤，97．8％的孕妇对胎儿健康的焦虑，3．2％的孕妇担心隐私泄露。结论对进行介入性产前诊断技术的孕妇进行心理护理，疏导这些孕妇的心理压力，有利于介入性产前诊断技术的顺利开展。