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Common Maternal Genetic Syndromes VI: 22q11.2 Deletion Syndrome 常见母亲遗传综合征VI: 22q11.2缺失综合征
Pub Date : 2020-02-27 DOI: 10.2310/OBG.19147
Megan Boothe, N. Robin
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion syndrome with an incidence of 1/3,000-1/4,000 live births. Common manifestations of 22q11.2DS include congenital heart defects, hypocalcemia, immune deficiency, cleft palate, cognitive deficits, and psychiatric disturbances. As childhood management of 22q11.2DS has improved, these individuals are living into adulthood and may have children of their own. Thus, it is imperative for the clinician to have an understanding of both the physical and psychiatric complications that may be seen in the adult with 22q11.2DS and how this may affect a pregnancy. Here we review the common features of 22q11.2DS in the adult and pregnancy management recommendations for the obstetrician. This review contains 4 figures, 1 tables, and 27 references.Keywords: 22q11.2 Deletion Syndrome; DiGeorge Syndrome; Velocardiofacial Syndrome; 22q11.2 Deletion Syndrome Adult; 22q11.2 Deletion Syndrome pregnancy; DiGeorge Syndrome pregnancy; DiGeorge Syndrome adult.
22q11.2缺失综合征(22q11.2 ds)是最常见的染色体微缺失综合征,发生率为活产婴儿的1/ 3000 -1/ 4000。22q11.2DS的常见表现包括先天性心脏缺陷、低钙血症、免疫缺陷、腭裂、认知缺陷和精神障碍。随着22q11.2DS的儿童管理得到改善,这些人可以活到成年,并可能有自己的孩子。因此,临床医生必须了解22q11.2DS成人可能出现的生理和精神并发症,以及这些并发症如何影响妊娠。在这里,我们回顾22q11.2DS在成人和妊娠管理建议产科医生的共同特点。本综述包含4张图,1张表,27篇参考文献。关键词:22q11.2缺失综合征;迪格奥尔格综合征;Velocardiofacial综合症;22q11.2缺失综合征成人;22q11.2缺失综合征妊娠;迪乔治综合征妊娠;迪乔治综合症成人。
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引用次数: 0
Obesity in Pregnancy 孕期肥胖
Pub Date : 2020-02-20 DOI: 10.2310/OBG.19043
A. Peterson, A. Edlow
The prevalence of maternal obesity has increased significantly in the United States and throughout the world over the last several decades.  In the United States, where obesity has reached epidemic proportions, it is estimated that more than two-thirds of reproductive aged women are overweight or obese. Obesity poses a challenge for the obstetrician, given its association with significant increases in maternal morbidity before, during, and after pregnancy. Obesity is associated with an increased risk for diabetes, preeclampsia, cesarean delivery, and venous thromboembolic disease, among other complications. Poor pregnancy outcomes, including miscarriage and stillbirth, are more common in the setting of maternal obesity.  Maternal obesity also appears to impact both fetal brain and metabolic development, in ways that may have critical implications for long-term health outcomes of future generations.This review contains 5 figures, 1 table, and 127 references.Keywords: Pregnancy, obesity, congenital anomaly, cesarean delivery, wound complications, stillbirth, hypertensive disorders, bariatric surgery, diabetes, neurodevelopment
在过去的几十年里,在美国和世界各地,孕产妇肥胖的患病率显著上升。在美国,肥胖已达到流行病的程度,据估计,超过三分之二的育龄妇女超重或肥胖。肥胖对产科医生来说是一个挑战,因为它与怀孕前、怀孕期间和怀孕后孕产妇发病率的显著增加有关。肥胖与糖尿病、先兆子痫、剖宫产、静脉血栓栓塞性疾病及其他并发症的风险增加有关。妊娠结局不佳,包括流产和死胎,在产妇肥胖的情况下更为常见。产妇肥胖似乎还会影响胎儿的大脑和代谢发育,这可能对后代的长期健康结果产生关键影响。本综述包含5个图,1个表,127篇参考文献。关键词:妊娠,肥胖,先天性异常,剖宫产,伤口并发症,死产,高血压疾病,减肥手术,糖尿病,神经发育
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引用次数: 0
Conventional Karyotype and Fluorescence in situ Hybridization (FISH) Technology 常规核型和荧光原位杂交(FISH)技术
Pub Date : 2019-12-16 DOI: 10.2310/obg.19136
J. Cowan
Karyotype analysis of cells has been in use for many years and has led to the causative genetic change in numerous clinical syndromes, including trisomy 21, Klinefelter, Turner, Prader-Willi and Angelman syndromes. The resolution of the test depends on the degree of condensation of the chromosomes in the karyotype, but even at high resolution (> 800 bands per haploid set) the changes identified are in the order of 5 Mb of DNA.  Fluorescence in situ hybridization (FISH) bridges the gap between the relatively low resolution of karyotype analysis and the very high resolution of DNA analysis. With FISH it is possible to identify smaller changes in individual cells. The size of the change identified correlates with the size of the probe, which vary from 120 kb to 600 kb in size. FISH is widely used to confirm deletions or duplications identified by newer methods, such as array analysis.  This review contains 8 figures, 3 tables, and 25 references.Keywords: Cytogenetics, chromosome, karyotype, chromosomal resolution, tissue culture, fluorescence, hybridization, probe
细胞核型分析已经使用多年,并导致了许多临床综合征的致病遗传改变,包括21三体综合征、Klinefelter综合征、Turner综合征、Prader-Willi综合征和Angelman综合征。测试的分辨率取决于核型中染色体的凝聚程度,但即使在高分辨率下(> 800条带/单倍体组),所鉴定的变化也在5 Mb的DNA序列中。荧光原位杂交(FISH)弥补了相对低分辨率的核型分析和非常高分辨率的DNA分析之间的差距。使用FISH可以识别单个细胞中较小的变化。所识别的变化的大小与探针的大小相关,探针的大小从120 kb到600 kb不等。FISH被广泛用于确认由数组分析等新方法发现的缺失或重复。本综述包含8个图,3个表,25篇参考文献。关键词:细胞遗传学,染色体,核型,染色体分辨,组织培养,荧光,杂交,探针
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引用次数: 0
Achondroplasia and Hypochondroplasia
Pub Date : 2019-12-04 DOI: 10.2310/obg.19145
C. Gooch, A. Subramaniam, N. Robin
Many women with skeletal dysplasias, such as achondroplasia and hypochondroplasia, choose to become pregnant. These women and their partners should receive pre-conception genetic counseling. Once the woman becomes pregnant, a multidisciplinary team at a tertiary care hospital should mange her antepartum care and birth process. An anesthesia plan should be in place that addressed kyphosis, weight based medications and the possibility of a Cesarean Section. Patients should be monitored for respiratory compromise from the gravid uterus on a smaller body frame.  Neonatology must be available to help care for the infant. With a supportive antepartum and postpartum care plan, most women with skeletal dysplasia do well and resume routine OBGYN care after birth.This review contains 5 figures, and 21 references.Keywords: Maternal Achondroplasia, Maternal Hypochondroplasia, Inheritance patterns, short limb dwarfism, high risk pregnancy, autosomal dominant inheritance 
许多患有软骨发育不全和软骨发育不全等骨骼发育不良的女性选择怀孕。这些妇女和她们的伴侣应该接受孕前遗传咨询。一旦妇女怀孕,三级保健医院的多学科小组应管理她的产前护理和分娩过程。应制定麻醉计划,以解决后凸,体重为基础的药物和剖腹产的可能性。应监测患者的呼吸损害从妊娠子宫在一个较小的身体框架。新生儿学必须能够帮助照顾婴儿。通过支持性的产前和产后护理计划,大多数患有骨骼发育不良的妇女表现良好,并在出生后恢复常规的妇产科护理。本综述包含5张图,21篇参考文献。关键词:母体软骨发育不全,母体软骨发育不全,遗传模式,短肢侏儒症,高危妊娠,常染色体显性遗传
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引用次数: 3
Inborn Errors of Metabolism 先天代谢错误
Pub Date : 2019-10-04 DOI: 10.2310/obg.19140
S. J. Dean
Inborn errors of metabolism are a group of inherited disorders that are generally due to a block in an enzymatic pathway. In the past, individuals with inborn errors of metabolism were mainly isolated to the pediatric population. However, with the advent of newborn screening and improved treatment strategies, these patients are now reaching childbearing age. Many successful pregnancies in females with various inborn errors of metabolism have been reported. It is pertinent that obstetrician gynecologists are aware of these conditions and their management guidelines. This review will discuss three main categories of inborn errors of metabolism including protein metabolism disorders, carbohydrate metabolism disorders, and lipid metabolism disorders.This review contains 5 tables, and 30 references.Keywords: Inborn errors of metabolism, phenylketonuria, maternal PKU syndrome, ornithine transcarbamylase deficiency, galactosemia, fatty acid oxidation disorders
先天性代谢错误是一组遗传性疾病,通常是由于酶途径的阻断。过去,患有先天性代谢错误的个体主要局限于儿科人群。然而,随着新生儿筛查的出现和治疗策略的改进,这些患者现在已达到生育年龄。据报道,许多有各种先天性代谢缺陷的女性成功怀孕。这是相关的,妇产科医生都知道这些条件和他们的管理指南。本文将讨论蛋白质代谢障碍、碳水化合物代谢障碍和脂质代谢障碍三大类先天性代谢障碍。本综述包含5个表格,30篇参考文献。关键词:先天性代谢错误,苯丙酮尿,母体PKU综合征,鸟氨酸转氨基甲酰基酶缺乏症,半乳糖血症,脂肪酸氧化障碍
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引用次数: 0
Non-invasive Prenatal Testing (NIPT) 无创产前检查(NIPT)
Pub Date : 2019-10-04 DOI: 10.2310/obg.19129
Courtney Manning, M. Abbott
Non-invasive prenatal testing (NIPT) is a screening test that can determine if a pregnancy is at high risk for the common aneuploidies by analyzing cell-free fetal DNA in the maternal bloodstream. The screening includes trisomy 21, trisomy 18, and trisomy 13, with the option of screening for sex chromosome aneuploidy and fetal sex. Traditionally this testing is offered to women that are at high risk for these aneuploidies, most commonly women of advanced maternal age. Individuals that receive a high risk result on NIPT should be offered diagnostic testing to confirm the result. New forms of NIPT have recently emerged, however the use of this technology as a screening test for other genetic conditions is not currently recommended by national professional society guidelines. Patients should be counseled and consented for NIPT, as this is an optional screening test.This review contains 2 tables, and 39 references.Keywords: NIPT, non-invasive prenatal testing, aneuploidy, Down syndrome, trisomy 18, trisomy 13, Turner syndrome, microdeletions, diagnostic testing
非侵入性产前检测(NIPT)是一种筛选试验,可以通过分析母体血液中的无细胞胎儿DNA来确定妊娠是否处于常见非整倍体的高风险。筛查包括21三体、18三体和13三体,可选择筛查性染色体非整倍体和胎儿性别。传统上,这种检测是提供给这些非整倍体高风险的妇女,最常见的是高龄产妇。在NIPT上获得高风险结果的个体应提供诊断测试以确认结果。最近出现了新形式的NIPT,然而,目前国家专业协会指南并未推荐使用该技术作为其他遗传条件的筛查试验。患者应咨询并同意NIPT,因为这是一个可选的筛选试验。本综述包含2个表格,39篇参考文献。关键词:NIPT,无创产前检测,非整倍体,唐氏综合征,18三体,13三体,特纳综合征,微缺失,诊断检测
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引用次数: 3
Abnormalities of the Fetal Head and Neck 胎儿头颈异常
Pub Date : 2019-10-02 DOI: 10.2310/obg.19084
A. McHugh, F. Malone
Fetal head and neck abnormalities can be reliably assessed using a combination of 2D and 3D ultrasound. The accuracy of imaging depends to a large extent on gestational age. Magnetic resonance imaging (MRI) has evolved as a useful adjunct to ultrasound particularly for prenatal diagnosis of fetal head and neck anomalies. Intrauterine MRI improves diagnostic accuracy for fetal brain abnormalities and often leads to changes in management. MRI can be used to refine diagnoses in complex cases where ultrasound imaging is unclear or cannot determine the precise diagnosis. Some fetal neck masses can result in neonatal respiratory compromise. An ex utero intrapartum treatment (EXIT) procedure may be required if a neck mass is causing tracheal occlusion. Polyhydramnios can occur if there is oesophageal compression. When a fetal head and neck abnormality is detected, appropriate counselling regarding diagnosis, prognosis, and treatment options is crucial in allowing the patient to make an informed and timely decision in relation to pregnancy management.This review contains 14 figures, 3 tables, and 68 references.Key words: Intracranial abnormality, anencephaly, encephalocele, cystic hygroma, fetal neck mass, ventriculomegaly, fetal goiter, Craniosynostosis, Agenesis of the corpus callosum, Holoprosencephaly, EXIT
胎儿头颈部异常可以使用二维和三维超声的组合进行可靠的评估。成像的准确性在很大程度上取决于胎龄。磁共振成像(MRI)已经发展成为一种有用的辅助超声,特别是产前诊断胎儿头颈部异常。宫内MRI提高了胎儿脑异常的诊断准确性,并经常导致处理方法的改变。在超声成像不清楚或不能确定精确诊断的复杂病例中,MRI可用于改进诊断。一些胎儿颈部肿块可导致新生儿呼吸损害。如果颈部肿块导致气管闭塞,可能需要进行子宫外产时治疗(EXIT)。如果有食管压迫,可发生羊水过多。当检测到胎儿头颈部异常时,有关诊断、预后和治疗方案的适当咨询对于使患者及时做出与妊娠管理有关的知情决定至关重要。本综述包含14张图,3张表,68篇参考文献。关键词:颅内异常,无脑畸形,脑膨出,囊性水肿,胎儿颈部肿块,脑室肿大,胎儿甲状腺肿,颅缝闭锁,胼胝体发育不全,前脑全裂,EXIT
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引用次数: 0
Vaginal Birth After Cesarean: Contemporary Update and Ongoing Controversies for the Clinician in the Trenches 剖宫产后阴道分娩:当代更新和持续争议的临床医生在战壕
Pub Date : 2019-09-30 DOI: 10.2310/obg.19059
M. Rosner, C. Zelop
Mounting evidence underscoring serious maternal complications such as hemorrhage, emergent hysterectomy, thromboembolic disease and even death from multiple cesarean deliveries has refocused attention upon trial of labor after cesarean birth.  Research over the last thirty years has provided insight into some of the clinical and demographic factors associated with uterine rupture and successful trial of labor after cesarean delivery. Clinical application of these strategies has the potential to mitigate the dilemma for physicians in the trenches caused by fear of uterine rupture during a trial of labor after cesarean.  Individual risk stratification of candidates that optimizes success and minimizes uterine rupture during a trial of labor after cesarean shows promise for implementation of best practices leading to favorable maternal and neonatal outcomes.This review contains 4 figures, 6 tables, and 97 references.Key Words: Vaginal birth after cesarean (VBAC), Trial of labor after cesarean (TOLAC), uterine rupture, uterine scar, lower uterine segment, repeat cesarean, placenta accreta, uterine dehiscence
越来越多的证据强调了严重的产妇并发症,如出血、紧急子宫切除术、血栓栓塞性疾病甚至多次剖宫产死亡,这使人们重新关注剖宫产后的分娩试验。过去三十年的研究提供了一些与剖宫产后子宫破裂和成功分娩相关的临床和人口因素的见解。这些策略的临床应用有可能缓解医生在剖宫产后分娩试验中因担心子宫破裂而造成的困境。个体风险分层的候选人,优化成功和最大限度地减少子宫破裂在剖宫产后的分娩试验中显示了实施最佳实践的希望,导致有利的孕产妇和新生儿的结果。本综述包含4图6表97篇参考文献。关键词:剖宫产后阴道分娩(VBAC),剖宫产后试产(TOLAC),子宫破裂,子宫瘢痕,子宫下段,重复剖宫产,胎盘增生,子宫裂
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引用次数: 0
Vulvar Cancer 会阴部的癌症
Pub Date : 2019-09-27 DOI: 10.2310/obg.19172
K. Hicks-Courant, D. Roque
Vulvar cancer is one of the least common gynecologic cancers. In 2018, vulvar cancer accounted for approximately 6,190 (0.4%) of new cancer diagnoses and approximately 1,200 (0.2%) of cancer deaths in the United States.1 The median age at diagnosis is 68.1 At time of diagnosis, 59% of patients have local disease, 30% have regional disease, and 6% present with metastatic disease.1 The incidence of vulvar cancer per 100,000 women is 1.8 in white women, 1.3 in black women, and 1.3 in Hispanic women.2 Vulvar cancer typically presents as a pruritic lesion, noted by the patient or a provider on exam. Ninety percent of vulvar cancers are of squamous cell histopathology,3 and have risk factors similar to cervical squamous cell carcinoma. Vulvar cancer is staged surgically. The mainstay of vulvar cancer treatment is surgery, however later stages may be treated with chemotherapy and/or radiation.This review contains 2 figures, 2 tables, and 40 references.Keywords: vulvar cancer, chemoradiation, sentinel lymph nodes, inguinal lymphadenectomy, chemotherapy, lymphedema
外阴癌是最不常见的妇科癌症之一。2018年,在美国,外阴癌约占新癌症诊断的6190例(0.4%),约占癌症死亡的1200例(0.2%)。1诊断时的中位年龄为68.1岁,诊断时59%的患者为局部疾病,30%为区域性疾病,6%为转移性疾病每10万名女性中外阴癌的发病率在白人女性中为1.8,在黑人女性中为1.3,在西班牙裔女性中为1.3外阴癌通常表现为瘙痒性病变,由患者或医生在检查时注意到。90%的外阴癌为鳞状细胞组织病理学3,其危险因素与宫颈鳞状细胞癌相似。外阴癌是手术分期。外阴癌的主要治疗方法是手术,但晚期可能采用化疗和/或放疗。本综述包含2张图,2张表,40篇参考文献。关键词:外阴癌,放化疗,前哨淋巴结,腹股沟淋巴结切除术,化疗,淋巴水肿
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引用次数: 0
Intrapartum Care 产时保健
Pub Date : 2019-09-25 DOI: 10.2310/obg.19022
J. M. Hart, B. Young
Intrapartum care encompasses the treatment of pregnancy during labor and delivery. Knowledge of the normal labor process is essential to effectively recognize and treat abnormalities, and thus optimize maternal and fetal health. This review aims to outline the physiology of labor and discuss contemporary features of spontaneous labor, prolonged labor, and arrest of labor. It addresses management of group B streptoccocous colonization and electronic fetal monitoring practices. Additionally, issues associated with term labor such as prelabor rupture of membranes, abruption, intrapartum intraamniotic infection, and persistent occiput posterior position are discussed. The review concludes with a brief overview of delivery methods. This review contains 7 figures, 14 tables, and 49 references.Keywords: term labor, intrapartum monitoring, induction of labor, Group B Streptococcous prophylaxis, prelabor rupture of membranes, intraamniotic infection, mode of delivery
产中护理包括在分娩和分娩期间对妊娠的治疗。了解正常的分娩过程对于有效地识别和治疗异常至关重要,从而优化母婴健康。这篇综述旨在概述分娩的生理学,并讨论自然分娩、延长分娩和分娩骤停的当代特征。它涉及B群链球菌定植和电子胎儿监测实践的管理。此外,与足月分娩相关的问题,如产前胎膜破裂、早剥、产时羊膜内感染和持续枕后位也进行了讨论。该审查以交付方法的简要概述结束。本综述包含7张图,14张表,49篇参考文献。关键词:足月分娩,产时监护,引产,B群链球菌预防,产前膜破裂,羊膜内感染,分娩方式
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引用次数: 0
期刊
DeckerMed Obstetrics and Gynecology
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