胎儿及新生儿先天性膈疝的超声检查探讨

目的探讨胎儿、新生儿先天性膈疝(CDH)的超声诊断价值。方法对10例CDH胎儿及1例CDH新生儿超声表现进行回顾分析。结果 10例CDH胎儿及1例CDH新生儿全部行超声检查诊断,超声主要表现为纵隔移位,胎儿心脏移位及上腹部正常解剖消失,同时检出其它多处畸形。结论胎儿及新生儿超声检查为早期发现CDH提供确切的依据,有利于适时诊断和处理。     

贵阳地区1388例遗传咨询患者的细胞遗传学分析

目的探讨染色体异常与智力低下、原发闭经及不孕、男性不育、不良孕产史等疾病的关系。方法对1388例遗传咨询患者进行外周血染色体核型分析。结果检出染色体异常核型74例,检出率5.33%（74/1388）。其中：智力低下患儿中21号染色体异常者31例,占异常核型的41.89%（31/74）,不孕不育患者中性染色体异常者29例,占异常核型的39.19%（29/74）,习惯性流产中染色体结构或数目异常的11例,占异常核型的14.86%（11/74）,其他异常核型3例,占4.05%（3/74）.结论优生遗传咨询是检测遗传性疾病的一种有效手段,细胞遗传学方法是诊断染色体病、检出携带者以及进行产前诊断的重要方法,提供诊断依据和生育指导具有非常重要的意义。     

胎儿及新生儿先天性膈疝的诊断及病理解剖分析

目的探讨胎儿、新生儿先天性膈疝（CDH）的早期诊断。方法对8例CDH胎儿及1例CDH新生儿临床资料及病理解剖资料进行回顾分析。结果8例CDH胎儿全部行超声检查诊断，1例CDH新生儿行超声反X线检查诊断，并经病理解剖确诊。结论胎儿及新生儿超声检查及X线检查为早期发现CDH提供确切的依据，有利于适时诊断和治疗。病理解剖可以最后确诊，有利于检出合并其它畸形。     

丽水地区403例遗传咨询者的染色体核型分析

目的探讨有不良孕产史患者与染色体异常的关系。方法采用外周血淋巴细胞培养法,G显带分析染色体核型。结果403例有不孕？畸形、死胎、习惯性流产患者染色体检查出异常核型31例（7.7%）,其中,男18例（58%）,女13例（42%）;性染色体异常16例（51.6%）,常染色体异常15例（48.4%）。结论不孕？畸形、死胎、习惯性流产不仅与染色体异常有关而且与染色体多态性变化也有一定关联,夫妇任何一方染色体核型异常是不良孕产史的重要原因之一。     

先天性膈疝的产前诊断及临床探讨

目的：探讨先天性膈疝产前诊断方法及其预后，方法：回顾分析限我院1993年5－2000年5月8年间收治的7例先天性膈疝病例B超产前诊断的特点及临床表现和病检情况。结果：先天性膈疝病发病率0．47‰，7例围产儿均死亡，死亡率为100％，其中6例合并其它畸形，3例行脐染色体及致畸四项检查示见异常，5例伴羊水过多；7例中1例孕19周引产，2例孕40 2及32＋1周死产，余4例中1例34＋2周早产，3例孕足月顺产活婴，新生儿3例放弃治疗，1例急诊膈疝修补，患儿的均死亡，7例产前B超声像的发现羊水过多，纵隔移位,上腹部政党解剖消失，结论：先天性膈疝发病率低，产前诊断方法主要靠B超，获得产前诊断的先天性膈疝预后不良。     

先天性膈疝的宫内诊治进展

先天性胎儿膈疝(CDH)是胎儿时期膈的发育缺陷导致腹腔内容物疝入胸腔的一种先天畸形,是较严重的先天畸形之一。由于腹腔内容物疝入胸腔压迫肺和心脏,可导致心肺功能不全而致围生儿死亡率增加,围生期死亡率≥75%[1]。影响先天性膈疝(CDH)预后的主要因素是肺发育不良和肺动脉高压,目前各种出生后治疗手段均不能直接、立即改变已经存在的肺发育不良状态,故无法从根本上改善严重CDH的预后。宫内诊断并适时进行干预可能成为CDH有效的一种治疗手段。文章介绍了超声及MRI检查在CDH宫内诊断与肺发育程度评估方面的应用、以胎儿镜下胎儿气管球囊封堵术为重点的宫内干预的应用。     

重庆地区1726例遗传咨询者的外周血染色体核型分析

目的 通过统计重庆地区遗传咨询者外周血淋巴细胞染色体核型异常和多态的类型和分布，探讨染色体异常和多态与不良孕产史、不孕不育、少弱精等疾病之间的关系。方法 回顾性分析2017—2022年重庆计生医院就诊的1726例遗传咨询者外周血染色体核型结果。结果 1726例遗传咨询者外周血淋巴细胞染色体核型分析，共检出异常120例（6.95%），其中数目异常21例（1.22%），结构异常35例（2.03%）；常染色体异常30例（1.74%），性染色体异常26例（1.51%）；共检出染色体多态67例（3.88%）。结论 染色体核型分析对生殖异常病因诊断，减少出生缺陷患儿的出生均有积极作用。     

4046例染色体检查结果与先天性心脏病关系的回顾性分析

目的探讨染色体异常与先天性心脏病（先心病）的关系。方法回顾性分析复旦大学附属儿科医院1990年1月至2006年12月所进行染色体检查的患儿中染色体异常的核型种类,并统计先心病患儿染色体的核型特点。结果共检测4046例患儿的染色体,染色体异常660例（16．3％）,其中常染色体异常以唐氏综合征最常见（458例,69．4％）;性染色体异常以特纳综合征最常见（105例,15．9％）。接受染色体检查的患儿中先心病391例,其中染色体异常者185／391例（47．3％）,157／185例核型表现为唐氏综合征,4／185例核型表现为特纳综合征。先心病中圆锥动脉干畸形105例,其染色体核型异常发生率较低,仅为16／105例（15．2％）（P〈0．05）。染色体核型正常的先心病患儿中,圆锥动脉于畸形和非圆锥动脉干畸形分别有95和111例。结论染色体核型异常与先心病之间存在密切的相互联系。染色体核型异常易合并先心病;某些先心病患儿的染色体核型异常发生率明显升高。但圆锥动脉干畸形与常见染色体异常间无密切联系。因此,对于染色体异常患儿应常规进行心脏检查,以及早发现先心病。另外,尽管某些先心病患儿的普通染色体核型检查未发现异常,但有必要寻找更合适的检测技术提高染色体异常的检出率。     

染色体微阵列分析在先天性多发性畸形诊断中的应用及临床意义

目的探讨染色体微阵列分析(CMA)在先天性多发性畸形中的诊断效果及临床意义,为临床诊疗提供依据和参考。方法选择2016年1月-2019年12月产前超声检查异常的先天性多发性畸形孕妇104例作为对象,对孕妇进行随访直到分娩或终止妊娠;所有孕妇均给予超声检查,并对胎儿进行染色体G-显带核型分析及CMA分析,分析CMA在先天性多发性畸形中的诊断效果。结果产前超声检查异常的先天性多发性畸形104例均最终得到确诊,畸形数量排在前2位的分别为:2项畸形、3项畸形,分别占:51.92%和32.69%;104例先天性多发性畸形类型相对较多,排在前三位的分别为:泌尿系统畸形、神经系统畸形,泌尿系统畸形、颜面部及附属器官异常、生殖系统异常和骨骼发育异常、脊柱和/或四肢骨骼畸形,分别占:23.08%、11.54%和10.58%;104例先天性多发性畸形胎儿均完成核型分析,结果表明:23例患儿染色体异常,染色体检出率为22.12%。异常的23例患儿中,常染色体数目异常10例,性染色体数目异常2例,常染色体结构异常11例;81例染色体核型未见异常者给予CMA检查,根据检查结果结合国际数据库完成CNVs的致病性,结果表明:5例患儿经CMA分析基因检出CNVs,检出率为6.17%。结论将CMA用于先天性多发性畸形诊断中效果理想,具有分辨率高、覆盖范围广等优点,能从亚微观结构显示染色体畸形与重复情况,能为临床诊疗提供依据,值得推广应用。     

广州地区6229例不良生育史的染色体分析

目的　探讨染色体异常及染色体变异与不良生育史的关系。方法　对广州地区 6 2 2 9例因不良生育史就诊者取外周血 ,常规培养、制片、G显带 ,行染色体核型分析。结果　染色体核型正常 5 85 4人 ,占 94 0 % ;核型变异 2 0 6人 ,占3 3% ;核型异常 16 9人 ,占 2 7%。染色体异常与不良生育史有关系。结论　染色体异常是导致不良生育史的重要的细胞遗传因素。对于明确染色体结构或数目异常者 ,应行产前诊断。避免患儿出生     

Genetics of diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a life-threatening malformation characterised by failure of diaphragmatic development with lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). The incidence is 1:2000 corresponding to 8% of all major congenital malformations. Morbidity and mortality in affected newborns are very high and at present, there is no precise prenatal or early postnatal prognostication parameter to predict clinical outcome in CDH patients. Most cases occur sporadically, however, genetic causes have long been discussed to explain a proportion of cases. These range from aneuploidy to complex chromosomal aberrations and specific mutations often causing a complex phenotype exhibiting multiple malformations along with CDH. This review summarises the genetic variations which have been observed in syndromic and isolated cases of congenital diaphragmatic hernia.Subject terms: Respiratory tract diseases, Mutation, Genetics research     

Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH

Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations.     

Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia

We present a retrospective study of the frequency and type of associated malformations and chromosomal anomalies in 42 consecutive cases of congenital diaphragmatic hernia (CDH) diagnosed in utero during the period from 1985 to 1999. In 26% (11/42) of the cases, associated malformations were detected. Chromosomal anomalies were present in 9.5% (4/42). In this group of 15 cases (15/42 = 36%) with associated malformations or chromosomal anomalies, all cases, except one, had prenatal sonographic evidence of additional problems. The survival rate of fetuses with CDH and associated malformations or chromosomal anomalies was poor (1/15). Therefore, the overall survival rate of in utero‐diagnosed CDH was only 31% (13/42), while isolated left CDH had a survival rate of 52% (12/23). The in utero diagnosis of CDH implies a detailed echographic examination to exclude additional anomalies. The risk for a syndromal or chromosomal malformation becomes small when no additional anomalies are seen on ultrasound.     

Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia.

We present a retrospective study of the frequency and type of associated malformations and chromosomal anomalies in 42 consecutive cases of congenital diaphragmatic hernia (CDH) diagnosed in utero during the period from 1985 to 1999. In 26% (11/42) of the cases, associated malformations were detected. Chromosomal anomalies were present in 9.5% (4/42). In this group of 15 cases (15/42 = 36%) with associated malformations or chromosomal anomalies, all cases, except one, had prenatal sonographic evidence of additional problems. The survival rate of fetuses with CDH and associated malformations or chromosomal anomalies was poor (1/15). Therefore, the overall survival rate of in utero-diagnosed CDH was only 31% (13/42), while isolated left CDH had a survival rate of 52% (12/23). The in utero diagnosis of CDH implies a detailed echographic examination to exclude additional anomalies. The risk for a syndromal or chromosomal malformation becomes small when no additional anomalies are seen on ultrasound.     

Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature

Congenital diaphragmatic hernia (CDH) is a severe birth defect characterized by a defect in the diaphragm with pulmonary hypoplasia and postnatal pulmonary hypertension. Approximately 50% of CDH cases are associated with other non-pulmonary congenital anomalies (so called non-isolated CDH) and in 5-10% of cases there is a chromosomal etiology. The majority of CDH cases are detected prenatally. In some cases prenatal chromosome analysis reveals a causative chromosomal anomaly, most often aneuploidy. Deletion of 15q26 is the most frequently described structural chromosomal aberration in patients with non-isolated CDH. In this paper we report on two patients with a deletion of 15q26 and phenotypes similar to other patients with CDH caused by 15q26 deletions. This phenotype consists of intra-uterine growth retardation, left-sided CDH, cardiac anomalies and characteristic facial features, similar to those seen in Fryns syndrome. We propose that when this combination of birth defects is identified, either pre- or postnatally, further investigations to confirm or exclude a deletion of 15q26 are indicated, since the diagnosis of this deletion will have major consequences for the prognosis and, therefore, can affect decision making.     

Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program

Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect. In order to learn more about possible genetic causes, we reviewed and classified 203 cases of the Bochdalek hernia type identified through the Brigham and Women's Hospital (BWH) Active Malformation Surveillance Program over a 28-year period. Phenotypically, 55% of the cases had isolated CDH, and 45% had complex CDH defined as CDH in association with additional major malformations or as part of a syndrome. When classified according to likely etiology, 17% had a Recognized Genetic etiology for their CDH, while the remaining 83% had No Apparent Genetic etiology. Detailed analysis using this largest cohort of consecutively collected cases of CDH showed low precurrence among siblings. Additionally, there was no concordance for CDH among five monozygotic twin pairs. These findings, in conjunction with previous reports of de novo dominant mutations in patients with CDH, suggest that new mutations may be an important mechanism responsible for CDH. The twin data also raise the possibility that epigenetic abnormalities contribute to the development of CDH.     

The genetics of common disorders – Congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a common birth defect with a high mortality and morbidity. Although numerous chromosomal aberrations and gene mutations have been associated with CDH, the etiology of the diaphragmatic defect is identified in less than 50% of patients. This review discusses the some of the more frequent, recurrent karyotypic abnormalities in which CDH is a feature, including 15q26, 8p23.1 and 4p16.3 deletions and tetrasomy 12p (Pallister–Killian syndrome), together with some of the syndromes in which CDH is a relatively common feature, including Fryns syndrome, Matthew-Wood syndrome, overgrowth syndromes and Donnai–Barrow syndrome. In the era of genomic technologies, our knowledge of the genes and chromosome regions involved in pathogenesis of CDH is likely to advance significantly.     

Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2

We report on a 7-month-old girl with Smith-Magenis syndrome (SMS) due to a 4.76-Mb deletion of 17p12-17p11.2 detected by array comparative genomic hybridization. She was also affected with a left-sided congenital diaphragmatic hernia (CDH) and cardiac anomalies including an atypical atrioventricular canal defect and a cleft mitral valve. To our knowledge, this is the first reported case of a patient with both SMS and CDH. There are numerous chromosomal regions in which duplications, deletions, inversions, or translocations have been associated with CDH, but none have previously been reported at or close to 17p11.2. We discuss candidate genes for the diaphragmatic defect in this patient. Our case demonstrates that it is important to consider the possibility of SMS in non-isolated cases of diaphragmatic hernia.     

Diaphragmatic hernia in the south-west of England.

A retrospective anatomical, family, and epidemiological study was made of 143 patients (81 female and 62 male) with diaphragmatic hernia who were born in the south-west of England between 1943 and 1974. Thirty-nine cases were stillborn. Seventy-five per cent of patients had a left-sided diaphragmatic defect, 22% had a right-sided defect, and 3% had a bilateral defect. Fifty per cent of the patients had other congenital malformations, most frequently of the nervous system. No maternal age or birth order effect was noted. Cases of diaphragmatic hernia without other malformations had in general a normal fetal growth rate. Eight per cent of the cases were illegitimate. There were two pairs of twins discordant for diaphragmatic hernia, one pair being dizygotic and the other monozygotic. In no case of diaphragmatic hernia was there a relative affected with a diaphragmatic hernia. The most common type of diaphragmatic defect was a posterolateral hernia (92%), followed in frequency by an eventration of the diaphragm (5%), the least common defect being a retrocostosternal hernia (2%). Diaphragmatic hernia appears to be aetiologically as well as anatomically heterogeneous. In this series there were two cases of trisomy 18, one case of trisomy 21, one case trisomic for a small part of chromosome 20, and two cases with the Pierre Robin syndrome. It seems likely that diaphragmatic hernia is a non-specific consequence of several teratological processes.     

Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia

Wolf-Hirschhorn syndrome (WHS, OMIM 194190) is a chromosomal disorder characterized by retarded mental and physical growth, microcephaly, Greek helmet appearance of the facies, seizures/epilepsy. Closure defects of lip or palate, and cardiac septum defects occur in 30-50% of cases. Its cause is a deletion in the short arm of chromosome 4. We present a male patient, born after 37 weeks gestation, as the fourth pregnancy of non-consanguineous healthy parents, with unilateral cleft lip and palate, hypertelorism, a right-sided ear tag, and mild epispadias. At age 10 weeks he developed acute respiratory distress and acute bowel obstruction requiring emergency laparotomy. This revealed a left-sided posterolateral diaphragmatic defect, type Bochdalek, with incarceration of the small intestines necessitating major bowel resection. Clinical genetic investigation suggested a chromosome anomaly, but regular karyotyping was normal. However, FISH analysis showed a microdeletion in the short arm of chromosome 4 (4p-), consistent with WHS. A combination of this syndrome with congenital diaphragmatic hernia (CDH) has been rarely described. CDH can present either as an isolated defect at birth, or with multiple congenital abnormalities, or as part of a defined syndrome or chromosomal disorder. Therefore CDH, although not common in WHS, can lead to its diagnosis relatively early in life. We strongly recommend a clinical genetic evaluation of each CDH patient with facial anomalies taking into consideration 4p- deletion syndrome.