产前诊断体蒂异常一例并文献复习

目的探讨体蒂异常的产前诊断及临床特征。方法对1例体蒂异常病例进行分析，结合文献讨论该畸形的产前超声、临床特点。结果本例主要表现头颅异常，羊膜带，重度面裂，脊柱侧弯，腹壁缺损，短脐带等畸形。结论体蒂异常的特点为多发畸形，通常在孕早期可以通过超声诊断。     

羊膜带综合征并发肢体-体腔壁综合畸形尸检及文献复习

目的探讨羊膜带综合征(amnioticbandsyndrome,ABS)的发病机制、临床病理特点与诊断。方法对1例在孕26周经超声检查被诊断为ABS的胎儿病例进行尸检,结合文献讨论其发病机制、临床病理特点及诊断方法。结果本例主要表现为唇裂、腭裂、腹裂、肢体缺陷、脑积水、室间隔肌部缺损、脐带过短等畸形。结论ABS的发病机制存在争议,临床特点呈多样性,肢体-体腔壁综合畸形是其中的严重类型。产科超声检查是诊断胎儿ABS的有效方法。     

羊膜带综合征相关畸形与胚胎发育异常关系的案例分析

目的:报告18例羊膜带综合征(ABS),对其伴有的复杂畸形进行病理解剖学观察,从胚胎发生学的角度探讨其与羊膜带粘连致畸的关系.方法:对18例ABS进行尸体解剖,并对13例羊膜粘连带及受累组织和胎盘进行组织学观察.结果:本组多为严重的不对称的复合性畸形,包括头面部、腹壁及肢体等异常,所有病例均找到明确的羊膜带粘连证据.胎盘显示羊膜与绒毛膜分离,绒毛膜裸露.15例脐带明显短于正常值或无真性脐带.粘连带为纤维结缔组织,局部有胚外中胚层特征,可见羊膜上皮.皮肤或头皮-羊膜粘连处为羊膜的中胚层面粘合于表皮下的结缔组织,腹壁缺损缘为羊膜逐渐向皮肤鳞状上皮移行(羊膜-外胚层过渡带).结论:ABS主要表现为外表面组织器官缺陷;受累组织器官由于其在发生的关键时期,因羊膜囊破裂及羊膜带粘连受到干扰而致畸;畸形的严重程度及范围取决于羊膜囊破裂的时间和部位.     

三维超声对产前胎儿畸形的诊断价值

目的探讨三维超声产前诊断胎儿畸形的临床应用价值。方法对2003年1月至2006年12月应用三维超声进行产前检查发现的29例24~40周胎儿畸形超声影像与临床资料进行回顾性分析。结果唇裂11例、无脑儿7例、四肢短小4例、脐膨出3例、颈部淋巴囊肿3例、羊膜带综合征1例,与临床产出胎儿所见畸形特征完全一致。结论三维超声对胎儿畸形的检出率高,是有效的产前筛查方法。     

1例新的心-手-足综合征报告与探讨

心—手—足综合征(Heart-hand-toe syndrome)是先天性骨骼系统异常与心脏畸形合并存在的临床综合征。临床表现以心房间隔缺损为主,同时伴上肢手的畸形,下肢胫、腓骨与趾的畸形。鉴于经文献检索尚未有同类报告,现将我们遇到的1例报告如下。     

羊膜带综合征3例报告

羊膜带综合征３例报告白求恩医科大学三院中研遗传室（１３００２１）姜官凤，贾润英，王维忠白求恩医科大学基础部生物教研室王忠山羊膜带综合征（ａｍｎｉｏｔｉｃｂａｎｄｓｙｎｄｒｏｍｅ／ｓｅｑｕｅｎｃｅ，简称ＡＢＳ），是羊膜在羊水形成的一种片状或带状的纤维带...     

系统产前超声诊断双胎妊娠绒毛膜性和羊膜囊数并胎儿畸形的价值

目的探讨系统产前超声在诊断双胎妊娠绒毛膜性和羊膜囊数并胎儿畸形方面的临床价值。方法对在我院2011年1月至2013年12月共388例双胎妊娠的系统产前超声资料进行整理分析,并与产后随访结果对照。结果 388例双胎妊娠中,双绒毛膜双羊膜囊双胎胎儿畸形11例,发生率6.17%;单绒毛膜双羊膜囊双胎胎儿畸形27例,发生率19.14%;单绒毛膜单羊膜囊双胎胎儿畸形6例,发生率8.69%。单绒毛膜双羊膜囊双胎胎儿畸形发生率最高。结论系统产前超声诊断双胎妊娠绒毛膜性和羊膜囊数与胎儿畸形的发生有密切关系,对临床及时干预与优生优育有重要的指导作用。     

罕见前腹壁缺陷的产前超声诊断及鉴别诊断

目的探讨产前超声对少见的前腹壁缺陷的诊断与鉴别诊断价值。方法回顾性分析2014年1月1日至2014年12月31日1年间我院产前超声诊断的12例罕见的前腹壁缺陷的声象图特点,并对不同类型的少见前腹壁缺陷的声象图特点进行比较与鉴别。结果 12例中:肢体-体壁综合征7例,泻殖腔外翻2例,Cantrell五联征1例,羊膜带综合征1例,梅干腹综合征1例。结论以上几种少见的前腹壁缺陷都是严重胎儿畸形,产前超声是其诊断的可靠方法,对其早期诊断及鉴别诊断有重要价值。     

新生儿歪嘴哭综合征4例分析

目的总结歪嘴哭综合征患儿的临床特征、合并畸形以及发病机理。方法报告4例歪嘴哭综合征患儿的临床表现,并通过有关检查确定其合并的先天畸形情况。结果4例歪嘴哭患儿,2例合并先天性心脏病,1例肛门闭锁。一例附耳畸形。结论对于歪嘴哭综合征患儿应仔细检查,以便及时发现其他畸形并予以必要的医学干预。     

运用分子技术验证染色体平衡易位

本文研究了1例临床上表型正常的妇女,分娩3个猫叫综合征的孩子。该妇女17岁,通过正常妊娠分娩的第一个婴儿患有:“猫叫”,小头畸形,卤门增宽,眼距宽,两耳低位,指畸形,双侧腹股沟疝,室间隔缺损。临床诊断为猫叫综合征(Cri duchat syndrome)。应用胰蛋酶白酶Giemsa显带技术对婴儿血细胞染色体进行细胞遗传学分析,结果显示患儿5号染色体短臂缺失。患儿核型为46,XY,de15(P15→Pter)。     

Case report: The cobweb syndrome: first trimester sonographic diagnosis of multiple amniotic bands confirmed by fetoscopy and pathological examination

Amniotic band syndrome is a well described clinical entity presentingwith deformities of the limbs, thorax, craniofacial skeleton,soft tissues and umbilical cord, but it still lacks a precisedefinition and a coherent hypothesis for its pathogenesis. Wereport on a case of first trimester diagnosis of amniotic bandsyndrome by sonography and fetoscopy. This revealed multipleabnormalities including facial cleft, brain and limb deformities;the appearance of the amniotic cavity was that of a cobweb containingthe fetus. Postmortem examination and histopathological studiesconfirmed the diagnosis of amniotic band syndrome. These resultsmay enhance the knowledge of its natural course. In addition,based on histological and newly identified ultrastructural features,we present a hypothesis which could help to explain the aetiopathogenesisof the amniotic band syndrome.     

Amniotic band syndrome: a case report

Amniotic band syndrome is an uncommon congenital pathological condition that may lead to malformations and foetal-infant death. We report an autoptic case. The patient was a male preterm infant. At 14 weeks of gestation, a routine ultrasonography showed severe craniofacial anomalies and a close contiguity of the foetal head with the amnios. The neonate survived three days, after which an autopsy was carried out. The infant had a frontoparietal meningoencephalocele; a fibrous band was attached to the skin, close to the meningoencephalocele base. Cleft lip and palate, nose deformation and agenesis of the right eye were also present. At the opening of the cranial cavity, occipital hyperostosis was observed. The herniated brain showed anatomical abnormalities that made identification of normal structures difficult. Microscopically, the nervous parenchyma had architectural disorganization and immaturity, and the fibrous band consisted of amniotic membranes. As evident from this case report, amniotic band syndrome may cause severe malformations and foetal-infant death.     

Down syndrome with pure partial trisomy 21q22 due to a paternal insertion (4;21) uncovered by uncultured amniotic fluid interphase FISH

OBJECTIVE: To emphasize the usefulness and reliability of fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells in the prenatal diagnosis of common chromosomal aneuploidies. METHODS: FISH analyses utilizing centromeric, locus-specific or whole chromosome paint DNA probes specific for chromosomes X, Y, 13, 18, 21, and 4 were performed on uncultured amniotic fluid cells or the peripheral blood specimen from the father. Routine chromosome analysis was carried out as well. RESULTS: A prenatal case with partial trisomy 21 due to a paternal cryptic insertion (4;21) was ascertained by a rapid overnight FISH on uncultured amniotic fluid cells. The fetus was delivered at term and had classical features of Down syndrome. CONCLUSION: Our results stress the importance of FISH on uncultured amniotic fluid cells to supplement routine cytogenetics, especially in cases with abnormal ultrasound findings.     

Typical facial clefting and constriction band anomalies: an unusual association in three unrelated patients

The amniotic band sequence is a rare congenital condition in which it is hypothesized that fibrous band of amniotic tissue result in variable soft tissue derangements. Other terms that have been used to describe this condition are amniotic band syndrome and amnion rupture sequence. Patients may present with craniofacial, thoracic, abdominal, and/or limb involvement. Previous reports have described the association between the amniotic band sequence and unusual patterns of facial clefting, as described by Tessier, that do not follow normal embryonic lines of fusion [Keller et al., 1978; Bagatin et al., 1997]. We describe three successive cases of the amniotic band sequence, which presented with rather typical facial clefts (cleft lip and palate) in unrelated patients.     

The epithelial mesenchymal transition process may contribute to the pathogenesis of amniotic band syndrome

The etiology of the amniotic band syndrome is unknown, and has been subject of debate since the time of Hippocrates. The most accepted theories fail to cover all the abnomalities found in affected children. During organogenesis the epithelial–mesenchymal transition process (EMTP) participates in adequate formation of different organs from three embryo layers. Altered activation of EMTP occurs when the epithelial homeostasis is disturbed, the resulting myofibroblasts are able to secrete extracellular matrix proteins and deposit them on the tissues contributing to a fibrotic phenotype. If injury occurs during organogenesis, wound healing could be exaggerated and fibrotic response could be triggered. The molecule that regulates both of these processes (EMTP and fibrosis) is the transforming growth factor β (TGFβ); indeed null animals for TGFβ isoforms show similar defects than those seen in the amniotic band syndrome. Based on documented evidence this review intends to explain how the epithelial mesenchymal transition process may contribute to the pathogenesis of amniotic band syndrome.     

应用分子生物学技术产前诊断Down综合征

目的 探讨应用PCR分子生物学方法产前诊断Down综合征（Down syndrome,DS)。方法 取产前诊断病例：羊水100例，绒毛16例。提取DNA，PCR扩增21号染色体的6个多态位点，电泳，膜转移，等位基因位点分析，诊断。结果 正常人为两种带型：杂合型显示两条带，纯合型一条带。Down综合征患者为三种带型：完全杂合型显示三条带，半杂合型两条带（信号增强的2：1带），纯合型一条带。100例羊水中2例阳性，16例绒毛标本中1例阳性，3例患者，至少有2个位点检出三个等 基因，患者为2个位点时，表现2：1带型；无一例正常检出三个等位基因。所有结果均与细胞染色体核型检查相符。结论 本分子生物学方法产前诊断DS简便、快速、可行，是一种值得推广的方法。     

桂林地区526例遗传咨询者羊水细胞染色体核型分析

目的探讨羊水细胞培养及染色体核型分析在唐氏综合征等染色体病干预中的价值。方法对526例孕妇行羊膜腔穿刺术,羊水细胞培养、染色体制备及核型分析。结果羊水细胞培养成功率为99.43%,检出异常核型31例,其中21-三体6例,包括嵌合型1例,13-三体1例,性染色体数目异常3例,嵌合体4例,染色体结构异常14例,多态性变异4例。结论采用羊水细胞进行染色体核型分析对唐氏综合征等染色体异常进行产前诊断,是控制和减少出生缺陷的发生地有效措施。     

The Wolf-Hirschhorn syndrome in fetuses

Wolf-Hirschhorn syndrome (WHS) with partial deletion of the short arm of chromosome 4 has been exceptionally diagnosed in fetuses. We report prenatal diagnosis of five cases of monosomy 4p. The fetuses were karyotyped for severe intrauterine growth retardation (IUGR) diagnosed on routine ultrasound (US). In addition, cleft-lip and palate and diaphragmatic hernia respectively were found in two cases. The quantity of amniotic fluid was normal in all cases. At autopsy, the fetuses showed the typical craniofacial dysmorphy but without microcephaly. Major renal hypoplasia was the only constant visceral anomaly. Midline fusion defects were observed in all the fetuses, ranging from minor abnormalities such as scalp defect, hypertelorism, pulmonary isomerism, common mesentery, hypospadias and sacral dimple, to cleft palate, corpus callosum agenesis, ventricular septal defect, and diaphragmatic hernia. On post-mortem X-rays, a delayed bone age was always observed. All the placentae were hypotrophic, and two exhibited vascular lesions, although there was no maternal hypertension. Chromosomal studies showed that the breakpoints were within the 4p16 band in three cases, the 4p15 band in one case, and the 4p14 band in one case. The deletion was de novo in four cases, and resulted from a paternal translocation in one case. This study emphasizes the importance of karyotyping all fetuses with IUGR, especially when the quantity of amniotic fluid is normal, and suggests the possibility of recognizing on US the particular phenotype of WHS in utero.