胎儿颜面部畸形高频超声尸体解剖学研究

目的研究胎儿尸体颜面部畸形产后高频超声检查的准确性。方法对产前超声检查诊断为严重畸形或染色体检查为异常而引产、且其父母同意尸体解剖的71例引产胎儿颜面部行产后高频超声检查，并将结果与尸体解剖对比。结果产后超声发现71例中共有24例胎儿存在颜面部畸形，共有颜面部畸形51处，经尸体解剖证实，PMFU灵敏度、准确率均达100％。从不破坏尸体完整性、操作的简便性、获得结果的快捷性方面进行评估，51处颜面部畸形中，PM—FU在22处优于尸体解剖。结论产后超声检查为胎儿尸体解剖学检查开辟了新领域，可以作为尸体检查的选择方法之一，在胎儿尸体解剖遇到障碍时代替运用，或在尸体解剖前运用作为尸体解剖思路、步骤、方法等的指导。     

超声在诊断胎儿颜面畸形中的应用价值及颜面部畸形与染色体异常的关系研究

目的:探究超声在诊断胎儿颜面畸形中的临床价值,进一步分析颜面部畸形与染色体异常的关系。方法:回顾性分析2018年12月-2019年7月在笔者医院超声科行产前筛查的1533例孕妇的资料,以超声筛查胎儿颜面部异常者(超声异常组,n=30)和超声筛查胎儿颜面部正常但具有高危因素者(超声正常高危组,n=66)作为研究对象。记录超声及染色体检查结果,分析颜面部畸形与染色体异常的关系。结果:30例超声筛查颜面部异常胎儿中,8例单纯颜面部异常,22例颜面部异常合并其他异常。超声异常合并其他异常组NT厚度显著高于超声单纯异常组和超声正常高危组,差异有统计学意义(P<0.05)。超声异常组胎儿染色体异变率为20.00%,显著高于超声正常高危组的4.55%,差异有统计学意义(P<0.05)。结论:产前筛查中应用超声诊断可以明显提高染色体异常胎儿的检出率,值得临床推广应用。     

二维、三维超声联合应用在胎儿唇腭裂畸形中的诊断价值

目的探讨二维、实时三维超声成像相结合对胎儿唇腭裂的诊断价值。方法采用全数字彩色多普勒超声诊断仪,对3752例21～27周的胎儿鼻唇部进行二维探测及实时三维重建。结果发现唇（腭）裂14例,漏诊2例。二维、实时三维超声成像相结合率达100%,诊断率达99.95%。结论二维、实时三维超声成像相结合可明显提高诊断率。     

超声诊断胎儿脐带绕颈的应用分析

目的探讨分析超声检查在诊断胎儿脐带绕颈的中的应用价值。方法对1082例在本院分娩的、妊娠晚期36-41周的孕妇进行二维和彩色多普勒超声检查,观察胎儿颈部压迹深度、脐带绕颈周数,检测脐动脉S/D比值,并将产前超声诊断为脐带绕颈与产后临床诊断为脐带绕颈的病例进行对比分析。结果本组病例产前经超声检查诊断为胎儿脐带绕颈307例,产后临床诊断为脐带绕颈者311例,诊断符合率为97.7%,误诊3例,漏诊7例。47例脐动脉S/D比值〉3,存在不同程度宫内窘迫现象。结论二维超声与彩色多普勒相结合检查胎儿脐带绕颈特异性强、准确率高,且能够实时观察胎动及胎心搏动情况,是目前产前诊断胎儿脐带绕颈的最佳方法,为临床选择正确的分娩方式提供了可靠的依据。     

超声检查在诊断胎儿畸形中的应用价值探讨

目的:探讨超声检查在产前筛查胎儿畸形中的临床应用价值.方法:回顾性分析我院2009年1月～2011年1月妇产科常规超声检查6226例,其中检出胎儿畸形181例,漏诊3例.结果:通过常规超声检查,胎儿畸形检出率为2.9％(181/6226),多数经引产,手术或追踪随访证实.结论:产前超声检查能及早确定胎儿有无发育畸形,且诊断率高,无创,操作简便,重复操作性强,具有十分重要的临床诊断价值.     

产前四维超声对先天性心脏畸形诊断效果观察

目的探讨产前四维超声在先天性心脏畸形诊断中的应用效果。方法抽取2013-04—2016-02间在漯河医专附院进行产前检查的478例孕妇,均于产前进行二维超声及四维超声检查,并随访至分娩后1个月。对两种检测方法在先天性心脏畸形检出率及诊断准确率进行比较。结果四维超声检出率(3.77%)显著优于二维超声(1.67%),差异有统计学意义(P0.05);引产后确诊先天性心脏畸形19例,其中四维超声18例、二维超声8例(42.11%),差异有统计学意义(P0.05)。结论对孕妇产前实施四维超声检查,有利于早期对先天性心脏畸形作出正确诊断。     

产前超声胎儿畸形筛查及产后超声随访的应用研究

目的研究产前超声畸形筛查及产后超声随访在非产前诊断医院中的应用。方法回顾性分析笔者所在医院2008~2011年诊断为胎儿畸形的资料,对比2006~2008年检出畸形胎儿的资料,对检出的数量及结构进行比较。结果阻止畸形胎儿出生数,检出畸形的种类均明显高于开展产前系统超声检查前,开展产后超声随访有效的避免医疗纠纷的发生。结论在非产前诊断医院,特别是县市级医院合理开展系统超声胎儿畸形筛查能对优生优育起到很大的促进作用。     

前脑无裂颜面部畸形的产前超声诊断(34例分析)

目的探讨前脑无裂畸形颜面部的表现。方法回顾性分析确诊的34例前脑无裂畸形产前超声图像,分析其颜面部超声表现,与生后尸检对照。结果34例前脑无裂畸形中30例有明显颜面部畸形,占30/34（88.24%）,4例颜面部未见畸形,占4/34（11.76%）。30例中颜面部畸形97处,产前超声检出畸形75处,总检出率77.32%（75/97）,前脑无裂颜面部畸形有其特殊的组合方式,以眼、鼻、唇、腭部等中线结构多处受累多见。无人中、小口,耳部畸形产前超声容易漏诊。结论前脑无裂畸形颜面部的特殊表现是以眼、鼻、唇、腭部等中线结构多处受累,产前超声对前脑无裂颜面部畸形发现敏感,是诊断前脑无裂畸形的重要佐证。     

胎儿主动脉弓离断的产前超声诊断现状

主动脉弓离断是一种罕见的严重先天性心脏病,胎儿期死亡率极高,其胚胎学起源复杂,表现形式多样,且多合并其他畸形,产前超声诊断困难。超声心动图作为目前临床常用的胎儿心脏检查手段,在先天性心脏病的筛查中发挥重要作用。本文主要从二维超声、三维超声在诊断中的应用及超声鉴别诊断方面对胎儿主动脉弓离断的产前超声诊断现状进行综述。     

彩色多普勒超声在高龄孕妇中对泌尿系统畸形胎儿的产前诊断价值分析

目的 分析不同类型泌尿系统畸形胎儿的彩色多普勒超声声像图的特征,评价彩色多普勒超声对高龄孕妇在产前诊断泌尿系统畸形胎儿的临床研究和诊断价值.方法 随机选择2014年3月至2016年2月本院接收的1 642例平均年龄为35.2岁且孕周为14~38周的孕妇,进行彩色多普勒常规检查,同时观测孕妇腹中胎儿的健康状况,收集对孕妇以及胎儿的临床资料和彩色多普勒超声声像特征并进行统计分析,并对怀疑为泌尿系统畸形的胎儿进行随访验证.对检测出泌尿系统畸形胎儿、疑似泌尿系统畸形胎儿和漏诊的病例,在分娩后进行彩色多普勒超声诊断和随访,将随访的结果与产前彩色多普勒超声检查的统计结果相对照.结果 通过彩色多普勒超声检测1 642例孕妇,对其超声声像特征的资料进行分析,根据超声声像图特征做出诊断.检测发现有42例泌尿系统畸形的胎儿,包含肾发育不良胎儿4例,占9.5%;多囊性发育不良8例,占19.04%;肾盂扩张15例,占35.7%;肾积水6例,占14.3%;肾缺如7例,占16.7%;巨膀胱1例,占2.4%;尿道下裂1例,占2.4%;进行产前彩色多普勒超声检测的诊断结果与分娩后检查和随访结果一致,其中一例被误诊,产妇分娩后病症消失.结论 产前对高龄孕妇进行彩色多普勒超声检查,诊断出泌尿系统畸形胎儿的准确率较高.利用彩色多普勒超声检测,使得泌尿系统畸形胎儿在产前即可作出诊断,为临床诊断、采取措施和预后评估提供了可靠且重要的依据.     

Prenatal ultrasound detection of cleft lip, or cleft palate, or both, in southern Sweden, 2006-2010

It has been possible to detect cleft lip (CL), with or without cleft palate (CLP), using ultrasound (US) since the beginning of the 1980s. The aim of this study was to assess the accuracy of prenatal diagnosis of cleft lip with or without cleft palate, and isolated cleft palate (ICP), in our catchment area. Screening protocols in the different US clinics in southern Sweden were also compared, as regards evaluation of the fetal face and prenatal diagnosis of CLP. Forty-four (31%) of the patients were diagnosed by prenatal US and 97/144 (67%) were diagnosed at birth. The detection rate was 44/102 (43%) if the ICP are excluded. The specificity was 100%. Among the prenatally diagnosed clefts, 25/44 (57%) were diagnosed before the gestational age of 20 weeks. In 19/44 (43%) of the cases the US diagnosis of cleft was accurate in the light of the postnatal outcome. All US departments in our catchment area follow the Swedish guidelines and offer one routine US examination during the second trimester between 18 and 20 weeks of pregnancy. In addition, many of the clinics offer an additional US examination during the third trimester. Our detection rate is similar to previous findings. The detection rates and the accuracy of the prenatal diagnosis can be improved. To achieve this, an increased focus on detecting clefts, standardising scanning plans, and rescans in case of incomplete facial views, are essential.     

唇腭裂1386例发病特点回顾性分析

目的：通过对唇腭裂患者临床资料进行回顾性统计分析,研究该病的发病特点,为唇腭裂的预防及治疗提供临床参考。方法：统计分析2007年1月～2010年1月手术治疗的1386例唇腭裂患者,分别从患者诊断、性别、年龄、出生地,唇腭裂裂型分布情况等方面进行回顾性调查。结果：本组病例中,单纯唇裂356例（25．69％）,唇裂合并腭裂580例（41．84％）,单纯腭裂450例（32．47％）;男809例,女577例,男：女=1．40：1;单侧唇裂伴或不伴腭裂明显多于双侧者,两者之比为5．67：1,其中左侧多于右侧（1．82：1）。结论：唇腭裂发病以唇裂合并腭裂居多,男性发病多于女性,在腭裂患者中女性发病高于男性;单侧发病多于双侧,左侧多于右侧。     

The impact of antenatal diagnosis on the effectiveness and timing of counselling for cleft lip and palate.

Birth of a cleft child is emotionally distressing to the parents. The opportunity for forewarning the parents is now possible with antenatal ultrasound diagnosis of the cleft. This has opened up a new chapter of antenatal counselling. We present a retrospective postal study of 124 primary cleft lip and/or palate repairs operated over the last 5 years. In our study, 30% were diagnosed antenatally and received antenatal counselling. The rest received postnatal counselling. Of those who had an antenatal diagnosis 85% felt that the diagnosis prepared them psychologically for the birth of the cleft child. A total of 92% (n = 23) of parents who had antenatal as well as postnatal counselling, as compared with 71% (n = 46) of those counselled only postnatally, said the information given to them by the counselling cleft team was detailed and satisfactory. The majority of those who felt counselling was confusing had only postnatal counselling. Of those who had antenatal diagnosis 92% said that they had never contemplated termination of pregnancy. Only one parent had actually terminated her pregnancy due solely to the antenatal diagnosis of a bilateral cleft lip and palate. Our study has highlighted the importance of antenatal diagnosis of cleft and the importance of antenatal counselling for the delivery of a cleft child to be a positive experience.     

T4K矫治器矫治唇腭裂患者面中份发育不全的临床疗效观察

目的 探讨T4K矫治器矫治唇腭裂患者面中份发育不全的临床疗效.方法 选择6~12岁面中份发育不全的唇腭裂患儿12例,采用T4K矫治器进行矫治.结果 临床治疗12例唇腭裂患者,面中份骨骼均前移,面容大部分得到很大改善,其中6例患者咬合关系基本恢复正常,2例患者咬合关系为对刃关系,2例患者咬合关系为反(牙合)关系.结论 T...     

Prenatal diagnosis of cleft lip and palate.

A prospective study was conducted over a period of 8 years to compare the severity of the cleft lip and palate detected by ultrasound scanning of the foetus with the severity at birth. In the UK all pregnant women undergo a routine perabdominal ultrasound scan at 20 weeks' gestation. There were approximately 250000 scans performed in our catchment area during the study period. A total of 270 children were born with cleft lip and/or palate, of which 130 had cleft lip with or without cleft palate. Out of these, 23 were positively diagnosed by the ultrasound scan. The specificity was 100% and the sensitivity was 17.5%. Only two diagnoses led to termination of the pregnancy.     

Chief teratogenic factors in facial abnormalities

Congenital anomalies of the face mainly originate in chromosomal and teratogenic factors. Cleft lip and cleft palate are common anomalies of the face and palate. Cleft lip, with or without cleft palate, occurs about once in 1000 births. Cleft palate occurs about once in 2500 births. Most cases of cleft lip and palate are determined by multiple factors, genetic and nongenetic, each causing only a minor developmental disturbance. This is called multifactorial inheritance. The purpose of this study is a review on teratogenic factors with action on the newborn face.     

Embryonic development of the head and neck: Part 3, the face

The embryology of the face is presented with respect to changes affecting the mandible, maxilla, upper and lower lips, palate, nose, and oral cavity. The embryonic development of the teeth and salivary glands is also included. Various facial clefts, including cleft lip and cleft palate, are discussed, in addition to some congenital anomalies affecting the nose and oral cavity.     

Clinical and epidemiologic studies of nonsyndromic cleft lip and palate in china: analysis of 4268 cases

The aim of our study was to review clinical and epidemiologic characteristic of the nonsyndromic cleft lip and cleft palate over a period of 10 years at West China Stomatological Hospital, Sichuan University. Four thousand two hundred sixty-eight nonsyndromic cleft lip and cleft palate cases were retrospectively analyzed according to the following variables: general information, cleft type, maternal age, familial history, as well as associated malformations, et al. In these cases, 1075 of which were cleft lip, 1985 were cleft lip with cleft palate; 1208 were isolated cleft palate. There were more men than women in the cleft lip and cleft lip with cleft palate group, while there were more women than men in the isolated cleft palate group. There were significantly more unilateral cleft lip cases than cleft lip on both sides; the cases of cleft lip on the left side were more than that of cleft lip on the right side. The cases with inherited history accounted for 6.68% of all the cases. Most infection cases occurred among the deleterious factors and the complications experienced during the first 3 months after the pregnancy. In all of the 14 twin cases, only 1 of the babies was affected. There were totally 152 cases with other associated malformations. Patients with cleft lip born in November to January were less than those born in the other three quarters of the year. Patients of A blood group composed a higher proportion than the control group. Our data may provide references for appropriate resource use, cleft lip and cleft palate prevention programs, and counseling programs with China-specific data.     

Pearls for aesthetic reconstruction of cleft lip and nose defects

Mastery of the anatomy and embryology of the normal and cleft upper lip, primary palate, and secondary palate is an essential foundation for grasping techniques in aesthetic reconstruction of cleft lip defects. The surgical goals in repairing cleft lip deformities are to address the deficiencies of the cleft lip defect, restore static and dynamic anatomy, reshape the cleft nasal deformity, and leave a natural-appearing scar that mimics the contours of the philtral components. An additional goal is to improve skeletal alignment and retention of teeth in the vicinity of the alveolar cleft. There are advantages and disadvantages inherit in all repair techniques. However, there are principles that can be universally applied and that will improve the success of most approaches. Certain steps deserve special attention to detail, which provide for enhanced results in lip repair. In addition, the pearls for aesthetic reconstruction of cleft lip and nose defects outlined within this article--attention to scars and surface detail, utilizing the orthopedic forces of the orbicularis pull to achieve improved alveolar alignment, the importance of mucosal detail, and attention to the cleft nasal defect--will help to improve results and reduce secondary defects.     

Cleft lip and palate repair: the experience from two West African sub-regional centres.

Compliance with primary surgical treatment in people with cleft lip and palate is a well-known problem, especially in developing countries fraught with poverty and ignorance. Different protocols of treatment exist. In this paper, we retrospectively review a cohort from two centres, with a discussion on the outcome and its implications. The records of all patients with cleft lip and palate seen in the National Orthopaedic Hospital, Enugu, Nigeria, from January 1993 to December 1999, were sought, and all available case notes reviewed retrospectively. This included new cases seen in the period, and also cases operated during this period. Follow up took place until January 2005, when the data were collated. The records of all such patients seen at Ladoke Akintola University Teaching Hospital Osogbo, Nigeria, from September 2004 to June 2006 were also collated and analysed. During this period, 102 patients were seen (93 at Enugu and nine at Osogbo). Fifteen had isolated cleft palate, 42 had isolated cleft lip and 45 had combined cleft lip and palate. Presentation time ranged from 1 day to 43 years. The palate was not repaired in 20 people after lip repair; two patients with cleft lip and palate completely defaulted; and only one person with isolated cleft palate failed to undergo surgery in this period. Two patients in Osogbo absconded. The West African sub-region has a high drop out rate after lip repair.