110例胎儿泌尿系统发育异常的门诊多学科会诊结果分析

目的:探讨因胎儿泌尿系统发育异常参加门诊多学科会诊病例的处理及妊娠结局。方法:诊断为胎儿泌尿系统发育异常的孕妇在门诊多学科会诊中心进行预约登记,由胎儿泌尿系统异常会诊专家团队进行会诊,为孕妇制定合适的诊疗计划并定期随访。结果:110例产前发现胎儿泌尿系统发育异常的孕妇接受门诊多学科会诊并分娩,肾脏位置及形态异常52例(47.3%),肾盂扩张34例(30.9%)。引产43例,活产67例。36例行羊水产前诊断,产前诊断率为32.7%,6例发现致病变异,产前诊断阳性率为16.7%。结论:胎儿泌尿系统发育异常的多学科诊治模式优化了孕妇的就诊流程,避免盲目引产,孕期及出生后形成全程管理,提高了团队的整体诊治水平,促进了胎儿医学的发展。     

产前系统超声筛查与胎儿染色体异常的关系

目的:探讨产前系统超声筛查中晚孕期胎儿结构异常对指导进行侵入性产前诊断的价值.方法:2008年1月至2009年6月对我院中晚孕期孕妇行系统超声及超声心动图筛查,发现胎儿异常时经产前咨询及孕妇知情同意后,进行侵入性产前检查即羊水或脐静脉穿刺,进行染色体核型分析,分析各种类型的超声异常表现与染色体异常发病风险的关系.结果:...     

早孕期超声检查诊断胎儿畸形的临床价值

目的：探讨早孕期超声检查诊断胎儿畸形的临床价值。方法：选取我院2011年12月至2013年12月接收的行早孕期超声检查的1085例孕妇为研究对象,检查指标包括颈项透明带厚度、鼻骨长度、三尖瓣血流与静脉导管血流频谱,并观察胎儿心脏、胃泡、四肢与头颅结构,参照孕妇意愿决定是否终止异常妊娠;剩余孕妇均行中孕期超声检查,并对其最终的妊娠结局进行追踪。结果：纳入研究的行早孕期胎儿异常检查的检出率为6．6％（72例）;1045例孕妇行中孕期超声检查,胎儿异常检出率为5．3％（55例）。结论：早孕期行超声检查时,早发性、严重性异常胎儿的检出率较高,但不能取代中孕期超声检查。     

产前超声诊断胎儿小眼畸形的价值

目的:探讨产前超声诊断对胎儿小眼畸形的价值。方法:回顾分析2013年4月30日至2019年4月30日四川大学华西第二医院超声科产前超声检查提示小眼畸形的胎儿超声图像及临床资料。结果:产前超声诊断小眼畸形胎儿12例,孕妇平均年龄27.92±4.50岁(高龄1例);平均孕周26.33±3.50周。12例胎儿中单侧小眼畸形8例,双侧小眼畸形4例;单纯小眼畸形3例,合并其他部位发育畸形9例(颜面部结构异常5例;颅内结构异常6例;胸部发育异常2例;心脏发育异常3例;消化系统发育异常2例;多囊性肾发育不良1例;腹腔积液1例;羊水过多4例);重度小眼畸形8例。12例胎儿中7例行羊水穿刺或引产后胎儿染色体检查,其中4例无明显异常,3例胎儿染色体异常(13-三体综合征2例;21-三体综合征1例)。2例孕妇及配偶行自身染色体检查,其中1例母亲染色体为46,XX,inv(9)(p12q13),父亲染色体未见明显异常(其胎儿染色体未见明显异常);另1例双方染色体均未见明显异常(其胎儿染色体结果为21-三体综合征)。所有产前超声诊断胎儿小眼畸形的孕妇均选择引产,引产后证实与产前诊断结果一致,产前超声诊断小眼畸形符合率为100%。结论:产前超声检查能够直观地观察胎儿眼部发育情况,对产前诊断胎儿小眼畸形具有重要的临床意义。     

母体宫腔结构异常合并晚孕期胎头形状异常2例产前咨询

目的探讨母体宫腔结构异常合并晚孕期胎头形状异常的产前咨询方法。方法回顾性分析2016—2017年深圳市人民医院收治的母体宫腔结构异常合并仅晚孕期超声诊断胎儿小头畸形的产前诊断咨询病例,并随访胎儿出生后的生长发育情况。结果共有2例纳入研究,孕期超声筛查均未见胎儿结构异常。其中1例有较粗的宫腔粘连带,多次中孕期超声提示臀位,下肢活动受限,羊水细胞核型未见异常,晚孕期超声提示胎儿头围低于均值2个标准差(-2SD),头形狭长,上嘴唇外翻,单侧足内翻。另1例孕妇完全纵隔子宫,胎儿臀位,晚孕期超声发现头围-4SD,但颅底距离颅顶88 mm,头皮局部水肿合并羊水偏少;磁共振检查胎儿脑沟回发育未见异常。2例孕妇分别在36周和31+4周早产。新生儿出生时头形均明显异常,1例合并单侧足内翻。2例婴儿出生后半年及1年复查,婴儿神经发育正常,头型以及四肢外形均正常。结论母体宫腔结构有明显异常且仅晚孕期出现胎头形状异常的病例预后较好,但胎位异常及早产风险增加。产前遗传咨询医师应结合胎儿生长、孕妇宫腔结构、胎儿影像学动态变化以及磁共振等给予合理的遗传咨询意见。     

胎儿胆囊发育异常的研究进展

胆囊发育异常虽少见, 但可合并染色体异常和/或并发胆道闭锁和囊性纤维化等严重并发症。常规中孕期胎儿超声筛查时, 胆囊发育异常未被充分重视, 但产前发现对生后及时诊治具有重要意义。现综述胎儿胆囊发育异常的研究进展, 包括胆囊重复、胆囊内回声物质和胆石症、异位胆囊、胆囊增大、囊性纤维化的临床特征及围产儿预后, 总结胆囊未显示的类型、发病率、临床特征、产前诊断和围产儿预后, 以期提高对胆囊发育异常产前筛查的重视。     

孤立性轻度侧脑室增宽胎儿的产前诊断及预后

目的：探讨孤立性轻度侧脑室增宽胎儿的产前诊断结果及临床预后,为临床咨询提供指导。方法：对61例超声诊断为孤立性轻度侧脑室增宽的胎儿,回顾性分析其产前诊断结果;随访其生后情况。结果：①61例产前诊断中,3例（4.92%）染色体核型异常,包括2例21-三体综合征和1例47,XXY;50例行脐血弓形虫、巨细胞病毒及风疹病毒-IgM检测,仅1例脐血风疹病毒-IgM阳性。定期随访的55例中,8例因各种因素终止妊娠,包括3例染色体核型异常和1例脐血风疹病毒-IgM阳性;47例活产儿中,1例生后发现多发畸形,1例新生儿期死亡,2例伴有生长发育障碍,43例（91.49%）生长发育正常。结论：对孤立性轻度侧脑室增宽胎儿,建议行产前诊断及感染项目检测,排除染色体异常和先天感染,绝大多数胎儿预后良好。     

孕早期54例胎儿异常的超声诊断与分析

目的：通过早孕期孕11～13＋6周超声筛查胎儿异常,预防出生缺陷,帮助孕妇在早孕期决定是否终止妊娠,减少中晚期终止妊娠对母体伤害。方法：按照江苏省产前超声规范要求对胎儿顺序逐一扫查,仔细测量胎儿生长参数。结果：2008年至2014年1078例孕11～13＋6周妊娠妇女中,54例胎儿异常,占5％,结论：孕早期标准化超声筛查切面能检出露脑、无脑、脊柱裂、腹裂、脐膨出、胸外心及四肢骨骼异常等大部分胎儿畸形。但是一些孕早期形态学改变不明显的畸形需到中、晚孕期连续筛查才能做出诊断,所以结合中、晚孕期连续超声检查可以有效提高胎儿畸形检出率,预防出生缺陷。     

胎儿先天性泌尿系统异常的产前诊断及预后

先天性泌尿系统异常是一种常见的胎儿先天性畸形,是引起儿童肾功能不全以及终末期肾病的常见原因.先天性泌尿系统异常的临床表型多样,常常是由于胚胎时期肾发育异常或发育缺陷引起的,因而,胎儿泌尿系统结构异常也成为产前诊断和遗传咨询中常有的类型.泌尿系统异常的预后差异较大,胎儿出生后可能致命也可能轻度影响功能,需要及时做出准确的...     

孕期超声检查的时机以及超声检查的安全性

随着超声诊断技术及超声仪器的不断发展和临床经验的积累,孕期超声检查已成为评价胎儿生长发育、检测胎儿结构异常、筛查胎儿染色体异常高危人群的重要手段.自卫生部<产前诊断技术管理办法>实施以来,产前超声诊断得到了较快发展,同时孕妇的优生优育观念日益增强,对产前胎儿超声检查有了更多的认识和更高的要求.     

Pregnancy after thoracic organ transplantation

A growing number of heart, heart-lung, or lung transplant recipients are women of reproductive age. Fertility and pregnancy are important issues in this group of patients and often pose complex medical, psychosocial, and ethical problems. Many successful pregnancy outcomes have been reported following heart or lung transplantation. Nevertheless, these patients are at risk of certain maternal, fetal, and neonatal complications, including hypertension, preeclampsia, infection, preterm birth, and low birth weight. The physiological changes that occur in pregnancy are generally well tolerated by patients who have undergone thoracic organ transplant(s). The risk of allograft rejection during and after pregnancy is significant, and it is important to maintain an adequate level of immunosuppression. Pregnancies among lung transplant recipients are at higher risk for certain complications. The rate for graft rejection, independent of pregnancy status, is higher in this population. The long-term graft and patient outcomes citing a 50% 5-year mortality will be critical while counseling these patients regarding the impact of pregnancy on survival, and the ability to participate in raising the child. A multi-disciplinary team, involving specialists in maternal fetal medicine, cardiology or pulmonary medicine, transplant medicine, anesthesiology, high-risk nursing, neonatology, psychology, genetics, and social service, is crucial to the care of these patients. This team approach should be initiated at the time of pretransplant and preconception counseling and be continued through the prenatal and postpartum periods. The management plan should be individualized according to the status of the mother, the fetus, and the allograft. For most cases, given the need for close collaboration and frequent monitoring, these patients are best managed at their primary transplant institution in collaboration with local or referring physicians.     

Fetal intra-abdominal tumors: assessment of spectrum,accuracy of prenatal diagnosis,perinatal outcome and therapy at a tertiary referral center

Objective

To describe the varieties and ultrasound characteristics of prenatally diagnosed fetal abdominal tumors and to scrutinize the accuracy of prenatal diagnosis as well as the postnatal outcome and therapy of affected pregnancies.

Study design

Retrospective study of 354 fetuses found to have abdominal tumors on prenatal sonogram, identified from 1993 to 2009 at a tertiary referral center for prenatal medicine. The cohort was classified into subgroups according to the sonographic appearance of the fetal tumor and the affected anatomic structure (urinary, gastrointestinal and genital tracts and other locations). Sensitivity, specificity, positive predictive value and false-positive rate of ultrasonography in identifying the system of origin were calculated. Relationships between relevant outcome domains and the different subgroups were assessed using the chi-square test and Fisher's exact test.

Results

Our cohort comprised 222 urinary tract lesions, 37 genital tract lesions, 80 gastrointestinal lesions and 15 tumors of other origins. The mean gestational age at diagnosis was 26 + 0 wks. The prenatally established diagnosis was exactly concordant with postnatal findings in 88.9%. Sensitivity, specificity, positive predictive value and false-positive rate of ultrasonography in identifying the system of origin (urinary, gastrointestinal, genital tracts and other locations) were 98.3%, 97.6%, 92.6% and 2.4%, respectively. The favorable postnatal outcome rate was highest among fetuses with genital tract lesions (95%) and lowest among those with tumors of the urinary tract (62%, p = < 0.001). Twenty per cent of tumors regressed spontaneously, mostly gastrointestinal tumors (36%, p = < 0.001). In 75/354 cases (21%) the parents opted to terminate the pregnancy: intra-uterine fetal demise and neonatal death were each noted in 4%. Prenatal therapy was performed in 24 of 354 cases (7%) and postnatal surgery in 64 cases (18%).

Conclusion

The majority of fetal abdominal anomalies were accurately diagnosed and the vast majority of affected fetuses had a favorable outcome, some tumors even resolved with advancing pregnancy. Pre- and post-natal invasive surgical interventions were mandatory in only a small number of cases.     

胎母输血综合征的诊治

胎母输血综合征是发生于妊娠期的并发症,目前病因不甚清楚,初期胎儿可代偿而无明显表现,失代偿会出现胎动减少或消失、胎心监护出现正弦曲线以及水肿胎等表现,可通过Kleihauer-Betke试验及流式细胞仪诊断。确诊病例需针对胎儿具体情况进行宫内输血或终止妊娠,及时纠正胎儿或新生儿贫血,提高围产儿的存活率,改善预后。     

Ultrasound diagnosis of fetal anomalies: an analysis of perinatal management of 318 consecutive pregnancies in a multidisciplinary setting

OBJECTIVES: The objectives of this study are to analyse the perinatal management decisions made in a multidisciplinary setting following the prenatal diagnosis of fetal anomalies and to evaluate to what extent, in clinical practice, decisions about obstetric management are attuned to those about neonatal management. METHODS: Data on perinatal management of 318 consecutive singleton pregnancies presented to a multidisciplinary perinatal team in a tertiary centre were collected retrospectively. RESULTS: The multidisciplinary perinatal team decided upon non-aggressive obstetric management in 20% of the cases and consented to termination of pregnancy in 10% of the cases. The multidisciplinary perinatal team decided upon neonatal management in 112(36%) of all fetuses. In 100(89%) of these fetuses, standard neonatal management, and in 12(11%), no neonatal life-sustaining treatment was decided upon. Implementation of the decisions of the multidisciplinary perinatal team on the various management modalities ranged from 88 to 100%. CONCLUSION: The multidisciplinary perinatal team worked well in making decisions about obstetric management. In 30% of the cases, this concerned end-of-life decisions. However, for the majority of cases, the perinatal team did not plan neonatal management before birth and thereby did not attune obstetric and neonatal management to each other. This probably reflects the different attitudes towards end-of-life decisions between obstetricians and neonatologists. However, to ensure a consistent perinatal management, a multidisciplinary perinatal team has to make prenatal decisions about both obstetric and neonatal management.     

Endovaginal sonographic diagnosis of the fetal urinary tract anomalies in early pregnancy

Transvaginal sonography has enhanced the ability to follow fetal development and detect pathologies in early gestation. Examination of the fetal urinary tract is an integral part of routine sonographic examinations in the second trimester of pregnancy and one of the major benefits of prenatal sonography is to allow early diagnosis of relatively common urinary tract malformations. Detailed evaluation of the fetal urinary tract and identification of anomalies were considered to be difficult before the 18th week of gestation prior to the use of transvaginal sonography. Using the transvaginal route, a detailed evaluation of the kidneys is possible around 12 weeks and structural anomalies of the urinary tract are being detected at an ever-increasing rate. Transvaginal sonography, owing to its proximity to the maternal pelvic organs, allows an earlier determination of the normal fetal urinary system and more accurate diagnosis and identification of fetal urinary anomalies as compared with transabdominal ultrasound. Received: 22 May 2000 / Accepted: 21 August 2000     

妊娠合并急性白血病一例临床分析

目的：探讨妊娠合并急性白血病的临床特点,以提高对该疾病的诊治水平,改善母婴不良结局。方法：回顾性分析南方医科大学深圳医院收治的1 例妊娠晚期合并急性髓系白血病患者的诊治过程,并结合相关文献对该疾病进行分析。结果：本例患者于妊娠晚期发现急性髓系白血病,给予纠正贫血、促胎肺成熟、保护脑神经细胞等对症处理,于妊娠32＋1周行子宫下段剖宫产术娩出一活女婴。术后行白血病常规化疗。文献显示妊娠早期发现白血病应立即终止妊娠后进行常规白血病治疗;妊娠中晚期暴露于化疗药物会增加胎儿生长受限和早产的风险,但并不增加胎儿畸形的风险,可根据孕周大小制定治疗方案。结论：妊娠合并白血病的治疗应兼顾疾病本身、母体、胎儿及患者意愿等多方面因素,需要多学科团队合作,选择最佳的治疗方案以降低孕产妇不良妊娠结局的发生风险。     

妊娠早期胎儿颈部透明层厚度与胎儿预后的前瞻性队列研究

目的探讨妊娠早期胎儿颈部透明层(NT)厚度与胎儿预后的关系。方法收集2015年12月至2018年12月于南京大学医学院附属鼓楼医院行妊娠早期胎儿NT厚度测量的单胎孕妇,共4958例建立前瞻性研究队列,进行妊娠早期胎儿结构超声筛查、妊娠早期血清学筛查、妊娠中期超声筛查及对新生儿出生后28 d的体格检查。根据妊娠早期超声筛查的结果,分为胎儿NT增厚(≥3.0 mm)者167例与NT厚度正常者4791例;将胎儿NT增厚的孕妇,分为胎儿单纯NT增厚者86例与NT增厚合并结构异常者81例。分析不同NT厚度胎儿的预后,并重点对单纯NT增厚与NT增厚合并结构异常胎儿的妊娠结局进行分析。妊娠早期超声筛查发现胎儿结构异常或血清学筛查结果为高风险的孕妇,经绒毛穿刺取样术行染色体微阵列分析(CMA)检测以明确产前诊断。结果(1)胎儿NT厚度正常孕妇的妊娠结局:共4791例孕妇,包括胎儿NT厚度正常且无结构异常者4726例,其中妊娠中期及产后新诊断结构异常83例,4688例活产;胎儿NT厚度正常但结构异常的孕妇65例,其中61例孕妇终止妊娠,4例活产。(2)胎儿单纯NT增厚孕妇的妊娠结局:86例孕妇中,66例(76.7%,66/86)行CMA检测,3例胎儿诊断为21三体综合征;除7例孕妇选择终止妊娠外,余79例行妊娠中期超声检查、新生儿出生后28 d体格检查、新生儿电话随访至6~21个月均未发现发育异常。(3)胎儿NT增厚合并结构异常孕妇的妊娠结局:81例孕妇中,73例(90.1%,73/81)行CMA检测,其中32例的胎儿为染色体非整倍体异常。70例选择终止妊娠,2例妊娠中期自然流产,9例活产。(4)NT增厚是否合并结构异常胎儿的产前诊断结果及预后比较:单纯NT增厚的胎儿染色体非整倍体的发生率为3.5%(3/86),合并结构异常者为39.5%(32/81),两者比较,差异有统计学意义(χ2=32.7,P<0.01);胎儿单纯NT增厚孕妇的健康新生儿存活率为91.9%(79/86),合并结构异常者为9.9%(8/81),两者比较,差异有统计学意义(χ2=112.3,P<0.01)。结论妊娠早期,超声筛查胎儿NT及结构,能提高出生缺陷的产前筛查率。单纯NT增厚胎儿的染色体非整倍体的发生率较低,新生儿健康存活率较高。     

九例射频消融选择性减胎术的疗效及观察

目的: 探讨射频消融减胎术（radio frequency ablation,RFA）对复杂性多胎妊娠的疗效。方法: 回顾性分析2017年4月—2019年5月在武汉大学人民医院行RFA治疗的9例患者的临床资料,总结其临床疗效,包括流产、早产、足月产、活产、分娩方式和新生儿体质量等。结果: 9例患者中有2例是双绒毛膜三羊膜囊妊娠,有5例为单绒毛膜双羊膜囊双胎之一胎儿畸形行减胎术,1例为双胎输血综合征（twin-twin transfusion syndrome,TTTS）Ⅲ期减胎,1例为双胎之一选择性胎儿生长受限（selective fetal growth restriction,sFGR）Ⅱ型行选择性减胎术。9例患者均一次性RFA成功,手术成功率100%,均无手术并发症,仅1例于减胎术后2周流产,其余均获得活产。结论: RFA对复杂性多胎妊娠是一种安全有效且损伤小的宫内治疗方式,在临床上应该根据绒毛膜性及患者的意愿选择合适的减胎方式。     

The prenatal diagnosis of cloacal dysgenesis sequence in six cases: can the termination of pregnancy always be the first choice?

OBJECTIVE: Cloacal dysgenesis sequence is a lethal malformation, which usually requires termination. In this study, our aim was to evaluate the prenatal and postnatal diagnostic features of cloacal dysgenesis sequence and review the management of the patients. MATERIAL AND METHODS: The data of six cases of cloacal dysgenesis sequences were collected from the ultrasonography and neonatal records. The findings were evaluated in prenatal and postnatal periods. Chromosomal analysis was performed in all the cases. The evaluation of primary and secondary malformations was done. Coexisting anomalies were searched for by radiology and histopathology. RESULTS: Malformations in six cases (two females and four males) were described. The absence of anal, genital, and urinary openings with intact perineum covered by smooth skin were common findings. These features were considered as primary malformations for cloacal dysgenesis sequence. Secondary anomalies (urinary and gastrointestinal system malformations, pulmonary hypoplasia, and other coexisting anomalies) were evaluated. CONCLUSION: The prenatal differential diagnosis of cloacal dysgenesis sequence from other urinary obstructive diseases was essential regarding fetal prognosis, prenatal, and neonatal management. The bladder outlet obstruction and pulmonary hypoplasia due to reduced amniotic fluid and/or kidney disease were considered prognostic factors for neonatal death. Termination of pregnancy is almost always recommended instead of intrauterine shunt procedures; but if we take into consideration one of our cases and a few reported cases who survived in the neonatal period, the prenatal management of these pregnancies needs to be reevaluated.     

Percutaneous fetal surgery using epidural catheter: preliminary experience acquired from 24 cases

Objective The objective of the following study is to report the experience acquired from 24 percutaneous fetal surgeries for cavity drainage using epidural catheter instead of the commercially available catheter. Methods Twenty-four percutaneous fetal surgeries for cavity drainage were performed, due to the following anomalies: 13 cases of lower urinary tract obstruction, nine cases of pleural effusion, and two cases of pulmonary cystic adenomatoid malformation type I. In order to verify that catheter adequacy, technical and obstetric complications derived from its use were assessed. Technical complications were difficulty in inserting the catheter and/or its functionality; and obstetric complications were the presence of bleeding, amniotic infection, preterm labor or premature rupture of membranes. Results The technical complications were the following: difficulty in passing the catheter through epidural needle in one case; one case of catheter drawn back with the needle; two cases of catheter dislodgment; and four cases of non-functionality of the catheter. Among the obstetric complications, there was only one case of preterm labor, and except from one fetus with chromosomal pathology, all the other 23 newborns were alive after 1 week. Conclusions The use of the epidural catheter can be seen as a viable alternative to percutaneous surgeries of fetal cavity shunting, due to its low cost and similar complications to the use of the conventional catheter.