胎儿骨骼系统畸形的产前超声诊断分析

目的探讨产前超声诊断胎儿骨骼系统畸形的临床价值。方法回顾性分析2013年1月-2015年6月在广西妇幼保健院经超声诊断为胎儿骨骼系统畸形并经追踪随访证实的患者资料。结果 343例胎儿纳入该研究,超声诊断完全符合332例,符合率为96.79%(332/343),基本符合11例,占3.21%(11/343),完全误诊3例足内翻;343例超声确诊的患者中,早中孕期有313例(91.25%),晚孕期有30例(8.75%);致死性骨骼发育异常19例,非致死性骨骼发育异常324例;骨骼系统畸形主要为肢体姿势异常、肢体缺失、脊柱畸形、指(趾)畸形、短肢畸形等;单纯骨骼系统畸形161例(46.94%),合并其他系统畸形182例(53.06%),以中枢神经系统畸形和心脏畸形多见。结论产前超声是筛查胎儿骨骼系统畸形的主要手段,只有早孕期(孕周11~13+6周)、中孕期(孕周20~24周)、晚孕期(孕周30~34周)联合筛查,才能提高胎儿骨骼系统畸形的检出率,最大限度地减少该类畸形儿的出生。     

Prenatal diagnosis. Amniocentesis

Is amniocentesis safe? Does it still have a place in prenatal diagnosis? These questions continue to be asked, but it remains the cornerstone of diagnosis while other methods are being evaluated.     

Prenatal diagnosis. Fetoscopy

Since its introduction just over a decade ago, fetoscopy has become an effective procedure for the diagnosis of at least 50 congenital abnormalities. It can also be employed as an aid to therapeutic interventions in utero.     

Prenatal diagnosis and caring.

Although the science of prenatal diagnosis is rapidly expanding, the art of caring for these patients is poorly understood and taught. Prenatal diagnosis programs must acknowledge the psychosocial consequences of electing to undergo prenatal testing, receiving either normal or abnormal test results, and choosing to continue or terminate a pregnancy with an identified fetal defect. There are suggestions from the literature of interventions to assist families under these circumstances (Table 3). Prospective studies of patient adaptation are needed; however, on the basis of the retrospective studies and common sense, a reasonable plan for patient support and care can be established. Prenatal diagnosis programs must demand not only excellent medical knowledge and technical expertise but also compassionate and continued care for the patient, her partner, and family.     

胎儿半椎体畸形的产前超声筛查

目的探讨产前超声筛查对胎儿半椎体畸形的诊断价值及临床意义。 方法选择2009年3月至2013年3月在四川大学华西第二医院建卡进行产前检查和外院超声筛查提示胎儿半椎体畸形来本院会诊的孕妇8例为研究对象,其中单胎妊娠为7例,双胎之一为1例。回顾性分析其胎儿半椎体畸形的资料,总结超声声像图表现特征,并对胎儿磁共振成像(MRI)检查、出生后（引产后）随访结果进行分析（本研究遵循的程序符合四川大学华西第二医院人体试验委员会制定的伦理学标准,得到该委员会批准,并与之签署临床研究知情同意书）。 结果8例胎儿半椎体畸形的超声表现包括病变椎体回声模糊、冠状切面可见病变椎体楔形变,脊柱侧弯或成角畸形,三维超声能更清晰、直观的显示椎体病变。8例孕妇中,5例进行了胎儿MRI检查,其中4例在本院足月分娩,产前MRI及产后X射线检查均证实了半椎体畸形的诊断,1例早产（未进一步随访另3例在外院引产,产后婴儿外观可见脊柱畸形。 结论胎儿半椎体畸形的超声声像图具有一定的特征性表现,二维超声联合三维超声检查对其具有较高的诊断准确率,胎儿MRI是重要的验证和补充诊断手段。产前筛查胎儿半椎体畸形对优生优育具有重要的临床意义。     

胎龄为16~18周系统胎儿超声检查联合胎儿全外显子组测序技术的产前诊断价值

目的探讨胎龄为16~18周系统胎儿超声检查联合胎儿全外显子组测序(WES),对颈项透明层(NT)值≥3.5 mm,染色体正常胎儿的产前诊断价值。 方法选择2018年1月至2020年3月,在广州市妇女儿童医疗中心产前诊断中心就诊,于胎龄为11⁺¹~13⁺⁶周时接受胎儿超声检查提示NT值≥3.5 mm,通过绒毛活检术或羊膜腔穿刺术采集绒毛或羊水标本,进行G显带染色体核型分析(KA)及染色体微阵列分析(CMA)结果显示染色体正常的31例单胎妊娠胎儿为研究对象。于胎龄为16~18周时,对其进行系统胎儿超声检查。征得孕母知情同意后,再对上述31例胎儿进行胎儿WES分析。采用回顾性分析方法,收集其临床特点、WES结果、胎龄为16~18周系统胎儿超声检查结果和妊娠结局,并进行分析。本研究遵循的程序符合广州市妇女儿童医疗中心伦理委员会规定,并获得该伦理委员会批准(审批文号：2018110201),所有胎儿孕母均签署临床研究知情同意书。 结果①本组31例NT增厚+染色体正常胎儿中,WES呈阳性者为12例,其中6例发生致病突变,6例发生可能致病突变;最常见单基因病为Noonan综合征(4例),涉及PTPN11、RAF1基因新发突变;胎龄为16~18周系统胎儿超声检查结果显示,10例发现其他超声结构异常,2例未见其他异常;这12例胎儿均引产终止妊娠。WES呈阴性者为19例,其中4例超声发现结构畸形,15例16~18周及中、晚孕期超声检查均未见异常;对2例采取引产终止妊娠,17例继续妊娠至分娩后,1例中、晚孕期发现宫内生长受限,随访至生后6个月时,仍然存在生长发育迟缓,1例生后发现生长发育迟缓,其他15例随访至生后6个月时,生长、发育均正常。②本组31例胎龄为16~18周胎儿超声系统检查结果显示,14例(45.2%)为结构畸形,包括颅内出血(1例)、脑室扩张(3例)、Dandy-Walker综合征(1例)、先天性心脏畸形(2例)、四肢畸形(2例)、骨骼系统畸形(2例)、淋巴瘤(3例)。 结论胎龄为16~18周系统胎儿超声联合胎儿WES技术,可对NT增厚+染色体正常胎儿进行有效产前诊断,减少孕妇焦虑和等待时间。     

产前超声对胎儿肾脏畸形的诊断分析

目的探讨产前超声诊断胎儿肾脏畸形的声像图特征和超声诊断思维方法。方法广州市第十二人民医院2006年3月～2011年3月孕期超声检出82例胎儿肾脏畸形,对检出结果进行诊断分析。结果各种胎儿肾脏畸形的声像图特征不同,本组胎儿肾脏畸形82例,其中胎儿先天性肾缺如8例（其中双肾缺如4例,单肾缺如4例）;2例异位肾;多囊肾10例中成人型多囊肾6例,婴儿型多囊肾4例;多囊性肾发育不良6例,重复肾6例,融合肾4例,肾外肾盂4例,肾积液24例,胎儿巨大输尿管并肾发育不良2例;肾囊肿16例中单发性肾囊肿12例,多发性肾囊肿4例。结论产前超声诊断胎儿肾脏畸形,准确率较高,超声依靠其特有的声像图改变及合并羊水量变化,对胎儿的临床诊断、预后判断及尽早采取措施提供声像依据,这对优生优育及新生儿早期治疗具有重要的临床价值。     

Influence of Prenatal Aerobic Exercise on Fetal Morphometry

Maternal and Child Health Journal - The purpose of this study was to determine the effects of supervised prenatal aerobic exercise on fetal morphometrics at 36 weeks of gestation. This...     

超声检查对诊断胎儿畸形的临床价值

目的探讨超声在产前诊断胎儿缺陷的临床价值。方法对9089例18-40周的孕妇采用实时彩色多普勒超声波进行系统检查,对胎儿畸形进行筛查和诊断。结果在9089例孕妇中,经引产或出生后证实的各种畸形133例,彩超筛查诊断胎儿畸形115例,漏诊18例。结论妊娠中晚期进行系统超声检查,可以对胎儿形态结构方面的明显畸形进行产前诊断,对于降低出生缺陷发生率,提高人口素质具有重要意义。     

The Psycological Impact of Prenatal Diagnosis of Fetal Abnormality

Though there are distinct technical advantages to medical advances allowing prenatal diagnosis of fetal abnormalities, the psychological impact of the use of these procedures has been given little consideration. While early detection of impairment may provide parents with an opportunity for emotional preparation, it also may precipitate a long period of distress. Toward the end of clarifying this indetermmate impact of prenatal diagnosis of fetal abnormality, the literature addressing the emotional consequences of giving birth to an impaired infant is examined for its relevance to the prenatal diagnostic situation. The clinical and research implications of this extrapolation of an existing literature to an important new question are considered. It is concluded that health care pro- fessionals must begin to explore systematically the psychological impact of the use of this technology, and must use their increased understanding clinically to promote not only the physical health of the neonate, but also its emotional wellbeing and that of its parents.     

卵巢纤维瘤的超声诊断再探讨

目的:探讨卵巢纤维瘤的声像图特点及声学基础、临床特点,以提高超声诊断准确性。方法:分两个阶段回顾性分析4个医院共216例卵巢纤维瘤的超声诊断、术中所见及病理结果,探讨其声像图特点及临床特点。结果:1997年7月采用新的诊断标准后,超声诊断的准确率显著提高(P<0.001),但对均质强回声、混合性回声型卵巢纤维瘤超声诊断准确率不高,术中见52.3%的病例合并腹水,超声扫查发现1.4%的病例同时伴有胸水。结论:全面掌握卵巢纤维瘤的声像图特点及其声学基础,正确判断临床资料的参考价值,对超声正确诊断卵巢纤维瘤具有重要意义。     

Fetal cystic hygroma antenatal diagnosis. Prognosis and management

Fetal cystic hygroma is a rare congenital malformation. The incidence of this pathology is 1/700 pregnancies. This malformation can be seen at antenatal ultrasonography from the end of the first trimester of pregnancy. The prognosis depends on chromosome analysis, other ultrasound abnormality and the size of the fetal cystic hygroma. Starting from a case diagnosed in the prenatal follow up and from litterature review, the authors discusse the ultrasound diagnosis, prognosis and management of this malformation.     

产前诊断及其困惑

出生缺陷关系到千家万户,也是全球关注的热点之一。对产前诊断的认识不足,加上产前诊断技术的局限,产前诊断的困惑还很多。