母源性平衡易位致反复胎儿异常一例

25岁,孕3产1。2017年7月早孕期自然流产1次,未查流产物染色体。2018年10月在当地医院因"孕38 +周胎儿发育迟缓"剖宫产一男婴,体重2220 g。后者因肺炎被转至外院儿科,发现患有先天性心脏病、脑积水、智力运动发育滞后,4个月时死亡。诉患儿通过染色体检查被诊断为猫叫综合征,夫妻双方染色体正常。夫妻...     

染色体平衡易位四例

例 1　女 ,2 4岁 ,孕 4次 ,第 1胎孕 4 0 + 天人工流产 ,此后 3次妊娠 ,均在孕 4 0 + 天自然流产 ,孕期无接触化学药物、放射线及服药史 ,月经正常。妇科检查 :子宫及双附件无异常。细胞遗传学检查 :患者核型为 4 6 ,XX,t( 7;11) ( q11;q2 3) ;丈夫核型正常。例 2　女 ,30岁 ,孕 3次 ,均在孕 4 0 +天自然流产。孕期无患病及服药史。临床检查 :无异常发现。细胞遗传学检查 :患者核型为 4 6 ,XX,t( 17;2 2 ) ( q2 5 q11) ;丈夫核型正常。例 3　男 ,30岁 ,婚后 5年其妻孕 4次 ,均在 1～ 3个月自然流产。抽烟 ,无酗酒史 ,母亲无流产史。两个姐…     

母染色体平衡易位致胎儿21三体综合征一例

患者　女 ,2 6岁 ,孕 3产 0 ,曾分别于 2 0 0 1年及 2 0 0 2年停经 6周内行药物流产。停经 16 5周行产前筛查人甲胎蛋白(human fetal protein,h AFP) 16 .9U/ml(中位数 2 7.3) ,游离β-人绒毛膜促性腺激素 (free-β- human chorionic gonadotropin,f-β- HCG) 5 7.0 ng/ml(中位数 16 .8) ,产前筛查唐氏综合征风险率为 1∶ 90 ,为高风险 (高于 1∶ 2 5 0 ) ;B超示“孕周符合 ,颈后透明带厚度 (nuchal translucency,NT)为 0 .5 cm”。停经 18 1 周再次产前筛查 ,h AFP 19.7U/ml(中位数 4 2 .7) ,f-β- HCG35 .5 ng/ml(中位数 8.8) ,…     

早孕期超声异常胎儿的染色体核型分析北大核心CSCD

目的探讨早孕期（孕11～14周）不同的超声异常指标对于筛查胎儿染色体异常的价值。方法对159例孕11～14周超声发现异常的胎儿进行绒毛或羊水核型分析,比较不同的超声异常指标所对应的胎儿染色体异常的检出率。结果最常见的早孕期超声异常指标依次为颈部透明层（nuchal translucency,NT）增厚、全身皮肤水肿、颈部淋巴水囊瘤、鼻骨缺失或显示不清、心脏畸形和静脉导管a波倒置。NT增厚的染色体异常检出率为34．5％（39／113）,主要为21三体、18三体和45,x。全身皮肤水肿的染色体异常检出率为76．7％（23／30）,以45,X、18三体和21三体为主。颈部淋巴水囊瘤的染色体异常检出率为62．5％（10／16）,以45,x和21三体为主。鼻骨缺失或显示不清的染色体异常检出率为71．4％（10／14）,以21三体和18三体为主。心脏畸形的染色体异常检出率为72．7％（8／11）,以21三体和18三体为主。静脉导管a波倒置的染色体异常检出率为50．0％（4／8）,其中21三体2例、18三体和45,X各1例。结论NT增厚、全身皮肤水肿、颈部淋巴水囊瘤、鼻骨缺失或显示不清、心脏畸形、静脉导管a波倒置是最常见的与染色体异常相关的早孕期超声异常指征。全身皮肤水肿、心脏畸形、鼻骨缺失或显示不清、颈部淋巴水囊瘤是染色体异常检出率最高的4种指征。这些指征同时出现得越多,染色体异常检出率越高。     

染色体平衡易位致流产一例

患者 男，24岁。其妻23岁，因早孕期不明原因的重复流产而就诊。夫妇结婚3年。自2003年初至2004年底共怀孕3次，均于孕55天内自然流产。怀孕期间，无感冒史、服药史以及有害物质接触史。夫妇非近亲婚配其表型智力均正常。男方精液分析及相关检查未见异常，女方月经正常，妇科检查子宫、附件正常。细胞遗传学检查：取夫妇外周血淋巴细胞培养，常规制片，G显带核型分析。患者核型为：46，XY，t（5：15）（5pter→5q11∷15q26．3→15qter；15pter→15q26．3∷5q11→5qter）。其妻染色体核型正常。家系调查：双方均否认有类似的家族史。     

胎儿染色体父源性平衡易位的一例家系分析

病例:孕妇,女,35岁。本人表型正常,婚后有不良妊娠史。曾流产3次,均在胎儿2个月左右自然流产。本次属第4次怀孕。孕15周时常规做产前筛查,21-三体风险截取值为1∶80,为高危人群。孕18周行羊膜腔穿刺,取羊水培养作     

16例染色体异常核型分析

目的与方法本文对189例自然流产、闭经、发育不全患者进行细胞遗传学检查,结果发现异常核型16例,异常核型涉及1、3、4、5、6、7、8、9、10、 15、X、Y染色体.其中平衡易位10例,性染色体异常3例,大Y染色体3例.结论染色体异常是导致流产、闭经、性发育异常的重要遗传因素,应引起临床医师的高度重视.     

父源性平衡易位致子代猫叫综合征1例

目的 追踪分析发现1例猫叫综合征（CDCS）的患者,为临床医生把握产前诊断指针及选择多种检测技术联合诊断提供参考。方法 对1例高龄、胎儿超声软指标异常的孕妇进行产前诊断,孕妇本人及其丈夫和儿子行外周血染色体核型分析,其儿子行CNVs以明确病因。结果 胎儿染色体核型结果为46,X?,t(5:17)(p15.2;q25.3),CNVs结果未见明显异常。先证者CNVs结果显示chr5p15.33p15.2区域存在13.64Mb的杂合缺失,其外周血染色体结果为46,XY,del(5)(p15.2),提示为猫叫综合征。先证者父亲的外周血染色体结果为46,XY,t(5:17)(p15.2;q25.3),其母亲未见明显异常。结论 临床医生应详细询问病史,严格把握产前诊断指针,应用细胞遗传学与分子遗传学相结合的技术综合分析,实现对猫叫综合征的早发现、早干预。     

妊娠中、晚期300例胎儿脐血染色体核型分析

目的 分析妊娠中、晚期胎儿脐血染色体核型,了解该时期异常核型出现的频率、类型及与各种产前诊断指征的关系。方法 ３００例有产前诊断指征的孕妇,在妊娠１８～３８孕周时穿刺胎儿脐带血管,帛脐箅查染色体核型。结果 发现异常核型２３例（７．７％）,其中２１三体占３９．１％（８／１２６）,Ｐ＝０．７７。三体为主要的染色体异常,占异常核型的６０．９％（１４／２３）。其中２１三体占３９．１％（９／２３）,平衡易位     

t(16;17)平衡易位一例

患者　女 ,39岁 ,孕 2产 1。第 1胎孕 2月时自然流产。第2胎孕 19周时血清筛查检查疑为唐氏综合征 ,孕 2 2周行羊膜腔穿刺术。羊水细胞培养后染色体 G带分析 ,镜下计数 30个分裂相 ,分析 10个核型 ,结果为 4 6 ,XY,t( 16 ;17( 16 qter→ 16 p11∷ 17q2 5→ 17qter;17pter→ 17q2 5∷ 16 p11→ 16 pter)。对患者及其丈夫行外周血染色体检查 ,患者核型为 4 6 ,XX,t( 16 ;17)( 16 qter→ 16 p11∷ 17q2 5→ 17qter;17pter→ 17q2 5∷ 16 p11→16 pter) ,其丈夫核型正常。该患者孕 37+ 6周时经剖宫产分娩一表型正常男婴 ,脐血染色体分析结果与…     

Allergen IgE-isotype-specific suppression by maternally derived monoclonal anti-IgG-idiotype

Background: The dramatic increase of IgE‐mediated allergic diseases in western countries demonstrates the urgent need for new therapeutic or prophylactic approaches. In mice, a prophylactic long‐lasting allergen‐specific suppression of IgE responsiveness is induced by maternal IgG antibodies to allergens like ovalbumin, phospholipase A₂ (bvPLA₂) or ovomucoid. As neonatal application or maternally derived pathogen‐reactive antibodies (idiotypes) as well as corresponding anti‐idiotypes can induce anti‐microbial protection, we probed the transgenerational IgE‐suppressive mechanism with a syngeneic monoclonal anti‐idiotypic antibody. Methods: The monoclonal bee‐venom‐phospholipase A₂ (bvPLA₂)‐reactive IgG antibody MS613 (idiotype) or the corresponding syngeneic anti‐idiotype II/2‐19 were injected during the first 2 days postpartum to the dams. Immunization of offspring with minute doses of IgE‐inducing bvPLA₂ was started at an adult age of 3½ months. Results: The postnatal transfer of the anti‐bvPLA₂ idiotype MS613 or the corresponding anti‐idiotype II/2‐19 induced long‐lasting allergen‐specific IgE suppression in a dose‐dependent manner, while the IgG response to the allergen developed normally. Quantitatively, the anti‐idiotype was more effective than idiotype. Molecular modeling of the idiotype‐anti‐idiotype complex and its comparison with the bvPLA₂ structure revealed that the anti‐idiotype does not mimic bvPLA₂ epitopes and thus can not be regarded as an internal image antibody and, consequently, does not function as a surrogate antigen. Conclusions: Idiotypic network reactivity is at least one major factor for induction of transgenerational IgE suppression by maternal IgG antibodies. If applicable to humans, these data suggest the possibility of a prophylactic and possibly therapeutic treatment of IgE‐mediated allergic diseases with anti‐idiotypic antibodies.     

Spontaneous recurrent fetal wastage and autoimmune abnormalities: a study of fourteen cases

Case records of 14 women with spontaneous recurrent fetal wastage were analyzed. Venous and/or arterial thrombosis developed in nine patients and vasospastic symptoms in eight. Every patient had some kind of autoantibodies: prothrombin activation inhibitor was present in seven cases, anticardiolipin in five, and, antimitochondrial antibodies in two. Antinuclear antibodies were present in seven cases, and significant titer of antibodies to single-stranded DNA in nine cases. With a mean follow up of 6.5 years no patient developed systemic lupus erythematosus. It is suggested that such women have a peculiar form of vasculitis.     

Vaccination of newborns against hepatitis A in the presence of maternally derived antibodies

Infection by hepatitis A virus (HAV) is a significant cause of childhood disease but effective vaccines are available. Naturally acquired anti-HAV antibodies ensure transfer of protective immunity which persists for up to 6 months in the newborn. Such maternal anti-HAV antibodies are able to inhibit the antibody responses in infants vaccinated with inactivated hepatitis A vaccines, although no clinically significant consequences of this are observed. By increasing the number of doses, for example by using a three dose primary vaccination schedule, and by increasing the amount of vaccinal antigen, this interfering effect may be partially overcome.     

Autism and maternally derived aberrations of chromosome 15q

Of the chronic mental disabilities of childhood, autism is causally least well understood. The former view that autism was rooted in exposure to humorless and perfectionistic parenting has given way to the notion that genetic influences are dominant underlying factors. Still, identification of specific heritable factors has been slow with causes identified in only a few cases in unselected series. A broad search for genetic and environmental influences that cause or predispose to autism is the major thrust of the South Carolina Autism Project. Among the first 100 cases enrolled in the project, abnormalities of chromosome 15 have emerged as the single most common cause. The four abnormalities identified include deletions and duplications of proximal 15q. Other chromosome aberrations seen in single cases include a balanced 13;16 translocation, a pericentric inversion 12, a deletion of 20p, and a ring 7. Candidate genes involved in the 15q region affected by duplication and deletion include the ubiquitin-protein ligase (UBE3A) gene responsible for Angelman syndrome and genes for three GABA_A receptor subunits. In all cases, the deletions or duplications occurred on the chromosome inherited from the mother. Am. J. Med. Genet. 76:327–336, 1998. © 1998 Wiley-Liss, Inc.     

胎儿心肺异常MRI诊断

目的探讨MRI在胎儿心肺异常诊断中的应用价值。方法30例孕妇,年龄21～43岁．平均年龄28岁：孕龄16～36周,平均孕龄27周。产前常规行超声（US）检查后24～48h内行MRI检查,采用二维快速平衡稳态采集（2D FIESTA）序列、单次激发快速自旋回波（SSFSE）序列,非门控实时稳态采集序列,行胎儿颅脑胸腹部常规及心肺重点冠状面、矢状面及横断面扫描,将产前MRI、US表现与出生后影像表现或手术（16例胎儿）、引产后尸体解剖结果或尸体影像表现（14例胎儿）对照。结果30例胎儿心肺异常。其中肺部异常20例．心脏异常10例。全部病例产前MRI均诊断正确．产前US漏诊2例、误诊3例。结论MRI在胎儿肺异常诊断方面具有较高的应用价值,能发挥US的补充作用,在心脏畸形诊断方面目前不如US．但能提供一定的信息。MRI联合US能提高胎儿心肺异常的产前诊断准确率。     

Antigen-independent suppression of the IgE immune response to bee venom phospholipase A2 by maternally derived monoclonal IgG antibodies

The IgE immune response to ovalbumin in rats can be suppressed by prior immunization of the dams. The results reported in this paper extend this observation to include a different antigen and another species, namely the IgE immune response to bee venom phospholipase A₂ (PLA₂ ) in CBA/J mice. The degree of suppression seemed to depend on the amount of IgG antibodies transferred to the offspring. Moreover, we found that the maternally mediated suppression of the IgE response could be achieved in a completely antigen-free system in which exogenous monoclonal anti-PLA₂ IgG antibodies were transferred from the dams to the offspring. The following results were obtained: (i) The IgE suppression by monoclonal IgG antibodies was induced as efficiently with one single anti-PLA₂ IgG1 antibody as with a mixture of ten antibodies (nine IgG1, one IgG2b). (ii) Even after several immunizations up to an age of 6 months with a dose of PLA₂ that normally induces IgE production, none of the F1 mice developed an IgE response. (iii) This long-lasting suppression was observed in mice which were first immunized at an age of 4 weeks ( i.e. when low amounts of maternally derived monoclonal IgG were still present), as well as in mice which were first immunized at an age of 8 weeks, when no such maternal antibodies could be detected in their sera. The corresponding IgG responses showed, compared to normal mice, a transient enhancement in the maternally influenced mice. It is concluded that the immunological experience of the mother is of particular importance for the isotype regulation in the newborns, especially with respect to the ability to elicit an IgE response. The possible implications for the development of allergic diseases in humans are discussed.     

A case of sudden death caused by fibromuscular dysplasia

After sudden unexpected death in a previously healthy 42 year old woman, necropsy examination showed myocardial infarction caused by occlusion of a vital coronary artery by fibromuscular dysplasia. This is a rare arterial disease with a clinical onset usually in the third or fourth decades of life. The aetiology is not fully understood but since it affects vital (cerebral and coronary) blood vessels it often has fatal consequences.