产前超声诊断单脐动脉与胎儿异常的相关性研究

目的探讨超声检测胎儿脐带血管数目预测胎儿先天异常的价值。方法2000年1月至2006年10月在中山大学附属第一医院采用超声检测胎儿脐血管数目，对单脐动脉胎儿行产前超声系统筛查及胎儿染色体检查；分析单脐动脉合并畸形类型，与染色体异常的关系及胎儿结局。结果产前超声诊断胎儿单脐动脉119例，包括左侧72例（60．5％），右侧47例（39．5％）。单纯性单脐动脉59例（49.6％）；合并其他结构畸形60例（50．4％），其中泌尿系统畸形25例（41．7％），心血管系统畸形17例（28.3％），中枢神经系统畸形15例（25.0％），下肢畸形9例（15．0％），前腹壁和消化道畸形各5例（各占8．3％），唇裂或唇腭裂畸形3例（5．0％），其他畸形3例（5．0％）。行胎儿染色体检查41例，发现染色体异常8例，包括18-三体综合征3例、13-三体综合征1例、21．三体综合征1例、染色体片段异常3例，均合并其他畸形。结论胎儿单脐动脉左侧发生率高于右侧，约50％合并其他畸形；合并畸形时，染色体异常发生率较高；大部分单纯性单脐动脉胎儿结局良好。     

单胎产前超声诊断单脐动脉352例临床分析

目的:探讨单胎产前超声诊断单脐动脉的妊娠结局,为产前咨询和临床处理提供依据。方法:对2012年5月至2018年4月住院并分娩的352例单胎产前超声诊断为单脐动脉的病例进行回顾性分析。结果:同期单胎妊娠83238例,单胎单脐动脉发生率为0.42%。352例单脐动脉中孤立性单脐动脉(iSUA)308例,占87.5%,其中27例行染色体检查,1例染色体异常(3.7%)。308例中活产296例,死胎10例,流产1例,引产1例。活产儿中合并胎儿畸形14例,畸形率为4.7%(14/296)。非孤立性单脐动脉(niSUA)44例,占12.5%,其中29例行染色体检查,7例染色体异常(24.1%)。44例中活产14例,死胎1例,流产1例,引产28例。44例中合并单一畸形25例,以中枢神经系统及骨骼系统畸形为最常见(各5例);合并多发畸形19例,以心血管畸形及肢体骨骼畸形最常见(各10例)。产后排除单脐动脉病例15例。5例妊娠晚期首次发现单脐动脉,产后病理检查提示脐血管栓塞。结论:iSUA多数结局良好,但产后应注意排查隐匿性畸形。niSUA结局不良,染色体异常风险明显增加,应积极进行产前诊断。对于妊娠晚期首发单脐动脉的病例,应高度警惕脐血管栓塞。     

孕11～14周胎儿脐膨出与染色体核型异常的关系

目的:探讨孕11~14周超声检查发现胎儿脐膨出与胎儿染色体核型异常的关系。方法:回顾性分析2010年1月至2012年12月在四川大学华西第二医院就诊的单胎孕妇于11~14孕周超声筛查发现胎儿脐膨出相关资料,分析孤立性胎儿脐膨出及胎儿脐膨出合并其他异常的患者染色体核型异常情况及妊娠结局。结果:超声检查发现并获得相关资料31例。孤立性胎儿脐膨出5例,合并胎儿其他异常26例(其中合并胎儿NT增厚16例,合并胎儿其他结构异常10例)。胎儿脐膨出合并NT增厚组染色体异常发生率为87.5%(14/16),活产1例,宫内死亡3例,余终止妊娠;胎儿脐膨出合并其他结构异常组染色体异常发生率为80.0%(8/10),终止妊娠7例,宫内死亡3例;孤立性脐膨出组4例染色体均正常,1例未查,其中活产3例,终止妊娠2例。胎儿脐膨出合并NT增厚及合并其他结构异常的染色体异常发生率高于孤立性脐膨出(P=0.023)。结论:孕11~14周超声筛查发现胎儿脐膨出合并NT增厚或其他结构异常时,染色体异常发生风险高,能否作为独立筛查染色体异常指标有待进一步研究。     

胎儿单脐动脉超声检出率及临床分析

目的:探讨产前超声筛查胎儿单脐动脉声像图的特征及其临床意义。方法:选择2007年12月—2009年7月于天津市中心妇产科医院进行产前超声检查的38 215例患者,发现单脐动脉366例,其中经分娩或引产证实的40例住院患者获得全部胎儿单脐动脉的临床和超声资料。结果:胎儿单脐动脉检出率约0.96%(366/38 215),40例超声均诊断为胎儿单脐动脉,超声显示在胎儿盆腔膀胱及脐轮斜切面仅见膀胱一侧脐动脉走行。其中,超声发现合并胎儿其他系统发育异常5例而引产,因宫内死胎引产1例;继续妊娠并生产的34例中,有12例在妊娠期间和产程中出现异常,7例胎儿发现异常。结论:彩色多普勒超声检查能准确诊断胎儿单脐动脉,超声检查发现胎儿单脐动脉时需多角度动态观察以明确是否合并其他器官发育畸形,对于继续妊娠者需密切注意胎儿发育情况和产程。     

产前超声诊断胎儿持续性右脐静脉及其合并畸形的临床价值

目的 探讨产前超声诊断胎儿持续性右脐静脉及其合并结构畸形的临床价值.方法 回顾性分析2007年4月至2011年8月在复旦大学附属妇产科医院产前检查的38 827例孕妇中,产前超声检出的109例持续性右脐静脉胎儿及其合并结构畸形情况.结果 胎儿持续性右脐静脉的发生率为0.28％(109/38 827),其中单胎100例,双胎9例.109例产前超声诊断的持续性右脐静脉胎儿中,未合并结构畸形者95例(单胎90例,双胎5例),孕妇均正常妊娠分娩,新生儿预后良好,其中有4例行染色体检查,结果均正常.合并结构畸形者14例,发生率为12.8％(14/109),其中合并心血管系统结构畸形者10例,占71.4％(10/14).胎儿合并的结构畸形大多比较严重,例如心内膜垫缺失、右心室双流出道、单心房和单心室等,9例(64.3％,9/14)引产终止妊娠.14例合并结构畸形者仅有1例行胎儿染色体检查,结果正常.结论 产前超声检查发现胎儿持续性右脐静脉后,应仔细检查胎儿各系统结构,了解有无合并结构畸形,尤其是心血管系统.     

598例妊娠中晚期胎儿超声异常与染色体异常的关系

目的:探讨妊娠中、晚期胎儿超声异常时染色体异常情况,以指导脐血穿刺的选择。方法:对我院胎儿超声异常的598例妊娠中、晚期孕妇取脐血进行染色体检查,分析胎儿超声结构异常及超声软指标异常的异常染色体检出率及异常染色体分类。结果:598例孕妇中,染色体异常61例,检出率10.20%,其中三体儿42例,占染色体异常的68.85%;超声结构异常胎儿染色体异常检出率明显高于超声软指标异常胎儿(P0.05);2项、3项及以上超声软指标异常染色体异常检出率明显高于单项软指标异常胎儿(P0.05);鼻骨缺失染色体异常检出率41.67%,单脐动脉染色体异常检出率12.24%;超声异常合并高龄孕妇组染色体异常检出率明显高于合并低孕龄组(P0.05);超声异常合并羊水过多组异常染色体检出率明显高于合并羊水正常组(P0.05)。结论:当有胎儿超声结构异常、超声软指标鼻骨缺失、两项及以上软指标异常、超声软指标异常合并高龄或羊水过多的情况时,染色体异常发生率明显增加,建议行脐血管穿刺染色体检查。     

92例单脐动脉胎儿的结局

目的 探讨与单脐动脉并发的其他胎儿畸形及妊娠结局,为孕期咨询和处理提供依据.方法 对2007年9月至2009年7月之间在本院诊断并分娩的92例单脐动脉胎儿的结局进行回顾分析及随访.结果 25292例分娩的孕妇中确诊单脐动脉共92例,发生率为0.36％,其中53例(57.6％)新生儿无畸形存活,14例(15.2％)带畸形生存,围产儿死亡25例(27.2％).92例单脐动脉胎儿中伴畸形者共36例(39.1％),其中单发畸形29例(占80.6％),多发畸形7例(占19.4％).心脏畸形发生率位居首位,其他畸形依次为中枢神经系统、消化系统、运动系统及泌尿系统的畸形.单脐动脉孕妇同意选择胎儿染色体检查共33例,其中3例有染色体畸形(9.1％).92例中伴发小于胎龄儿者23例(25.0％),其中78.3％(18/23)的小于胎龄儿死亡,明显高于同期非单脐动脉小于胎龄儿的病死率4.0％ (24/597)(x2=181.71,P＜0.01).结论 单脐动脉易伴发其他先天畸形,孕期B超发现单脐动脉后,需要进一步寻查其他畸形,进行胎儿超声心动、胎儿染色体核型分析等检查,伴发严重胎儿生长受限,是胎儿不良结局的重要指标.     

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。     

早孕期胎儿鼻骨缺失与染色体异常关系的研究

目的:探讨早孕期胎儿鼻骨缺失与胎儿染色体异常之间的关系。方法:回顾性分析2016年1月至2017年12月广州医科大学附属第三医院产前诊断及胎儿医学中心和福建医科大学附属第一医院超声影像科早孕期超声检查提示胎儿鼻骨缺失的相关资料,分析胎儿单纯鼻骨缺失及其在合并其他超声异常时对诊断染色体异常的价值。结果:高龄孕妇的胎儿单纯鼻骨缺失及合并其他超声异常时胎儿染色体异常的发生率分别为6.78%和75.00%,同非高龄孕妇的胎儿染色体异常率(分别为0.80%和42.50%)比较,差异均有统计学意义(P<0.05)。胎儿单纯鼻骨缺失的染色体异常率为2.72%,当合并其他异常指标时,胎儿染色体异常率升至58.75%,差异有统计学意义(P<0.01)。胎儿鼻骨缺失在合并颈项透明层(NT)增厚时,胎儿染色体异常的总发生率为60.81%。当NT>3.5 mm时胎儿染色体异常率达77.78%,与NT≤3.5 mm时的染色体异常发生率(34.48%)比较,差异有统计学意义(P<0.05)。结论:早孕期超声检查提示胎儿鼻骨缺失时,需详细的胎儿超声结构筛查评估,当发现合并其他超声异常时,临床医师应向孕妇提供遗传咨询,建议行产前诊断以排除胎儿染色体异常。     

高龄孕妇有创产前诊断胎儿染色体核型结果分析

目的:通过回顾分析4429例高龄孕妇的胎儿染色体核型结果,探讨高龄孕妇的产前诊断和产前筛查方法。方法:选取单纯因高龄、高龄合并血清学筛查高风险和高龄合并超声提示异常于盛京医院产前诊断中心行有创产前诊断的单胎妊娠孕妇共4429例,分析胎儿染色体核型结果。结果:胎儿非多态性染色体异常170例,异常率为3.84%(170/4429),其中数目异常95例,占核型异常的55.88%(95/170);结构异常23例,占核型异常的13.53%(23/170);嵌合体52例,占核型异常的30.59%(52/170)。合并血清学筛查高风险组与单纯高龄组相比,数目异常发生率有升高趋势,但差异无统计学意义(P0.05)。合并超声提示异常组与单纯高龄组相比,数目异常发生率有明显升高趋势,差异有统计学意义(P0.05)。随着年龄段的升高,染色体数目异常发生率明显增高,差异有统计学意义(P0.05)。伴有超声异常的高龄孕妇其胎儿染色体数目异常发生率随年龄升高更加明显,差异有统计学意义(P=0.001)。结论:孕期超声检查对高龄孕妇唐氏儿筛查十分重要,合并超声提示异常的高龄孕妇其胎儿染色体异常发生率明显升高,建议行有创产前诊断。     

Single umbilical artery and associated hydronephrosis: a report of 2 cases

BACKGROUND: A single umbilical artery (SUA) in a fetus may be associated with hydronephrosis. CASES: We describe 2 cases of SUA, one of which had severe hydronephrosis with ascites and was stillborn. The other case was born alive with a unilateral hydroureter and is being managed with close monitoring. CONCLUSION: Detection of SUA on antenatal ultrasound should prompt a careful search for urinary tract abnormalities, as associated severe hydronephrosis may lead to a poor outcome.     

Volumetric umbilical artery blood flow: comparison of the normal versus the single umbilical artery cord

Objective : This was a study of the volumetric blood flow in single umbilical artery (SUA) cords as compared to three-vessel cords. Hypothesis: SUA flow will be twice that of an artery in a normal cord. Methods : We studied 276 patients (24 SUA, 252 normal cord) at 18-40 weeks' gestation utilizing gray-scale and color Doppler. Flow, flow/kg, velocity, artery diameter, Doppler velocimetry indices, estimated fetal weight (EFW) and amniotic fluid index (AFI) were compared. All fetuses were anatomically and cytogenetically normal. Results : Blood flow increased with advancing gestation and the SUA volume was twice that in the normal cord artery. Flow/kg decreased for both cords, with the SUA values twice those of normal cords. Arterial diameter and velocity increased, but to a greater degree in SUA. Velocimetry, although in the normal range, decreased progressively with the resistance indices always lower in the SUA cord. EFW and AFI were the same for both groups. Conclusion : Volumetric blood and its components were measured indirectly with ultrasound. The SUA cord artery carried twice the blood volume of an artery in a three-vessel cord. Other flow parameters changed appropriately to explain the increased flow. For the anatomically normal fetus with SUA there was no increase in intrauterine growth restriction.     

Volumetric umbilical artery blood flow: comparison of the normal versus the single umbilical artery cord

OBJECTIVE: This was a study of the volumetric blood flow in single umbilical artery (SUA) cords as compared to three-vessel cords. Hypothesis: SUA flow will be twice that of an artery in a normal cord. METHODS: We studied 276 patients (24 SUA, 252 normal cord) at 18-40 weeks' gestation utilizing gray-scale and color Doppler. Flow, flow/kg, velocity, artery diameter, Doppler velocimetry indices, estimated fetal weight (EFW) and amniotic fluid index (AFI) were compared. All fetuses were anatomically and cytogenetically normal. RESULTS: Blood flow increased with advancing gestation and the SUA volume was twice that in the normal cord artery. Flow/kg decreased for both cords, with the SUA values twice those of normal cords. Arterial diameter and velocity increased, but to a greater degree in SUA. Velocimetry, although in the normal range, decreased progressively with the resistance indices always lower in the SUA cord. EFW and AFI were the same for both groups. CONCLUSION: Volumetric blood and its components were measured indirectly with ultrasound. The SUA cord artery carried twice the blood volume of an artery in a three-vessel cord. Other flow parameters changed appropriately to explain the increased flow. For the anatomically normal fetus with SUA there was no increase in intrauterine growth restriction.     

Brain damage to the survivor within 30 min of co-twin demise in monochorionic twins

Single fetal death in a twin pregnancy in the late second or early third trimester is associated with significant morbidity and mortality rate in the surviving co-twin, especially in monochorionic twin pregnancies. The common causes are twin-to-twin transfusion syndrome, chromosomal abnormalities, and congenital anomalies of the fetus or anomalies of the umbilical cord-placenta. Here we report a case of monochorionic twin pregnancy in which one fetus had a single umbilical artery (SUA) while the co-twin had two umbilical arteries. The twin with SUA died in utero at the 30th week of gestation and the other fetus was delivered by cesarean section immediately due to fetal distress diagnosed by cardiotocography. Disseminated intravascular coagulation and multicystic encephalomalacia have been observed in the surviving neonate. This case and review of the literature suggest that neurologic complication rates are also increased in monochorionic twin pregnancies with single fetal demise despite the immediate delivery as in our case.     

Single umbilical artery: what does it mean for the fetus?

Single umbilical artery (SUA) is the most common anomaly of the umbilical cord which affects between 0.5 and 2.5% of all pregnancies. AIM: Our purpose was to determine whether there was a significant relationship between SUA and other anatomical anomalies. MATERIAL AND METHODS: All cases of fetal single umbilical artery identified in our hospital between 2002-2005 were reviewed for other ultrasound detected abnormalities. RESULTS: 18 cases of single umbilical artery were diagnosed on the basis of initial sonograms. 17 cases formed the study population (in 10 cases the left artery and in 7 the right artery was absent). In one case we diagnosed an umbilical cord tumor. 33.3% had other anatomical anomalies. The mean of women in the study was 30.5 years, the mean gestational age at examination was 28 weeks. CONCLUSIONS: In most cases the SUA occurs to be an isolated anomaly. In cases of SUA, the detailed ultrasound examination should be performed. Left artery absence is more common and also in these cases other anatomical anomalies are more likely to be observed as well. In our study we did not find a correlation between SUA and IUGR.     

Single umbilical artery and its siding in the second trimester of pregnancy: relation to chromosomal defects

OBJECTIVES: To determine the possible association between single umbilical artery (SUA) in the second trimester of pregnancy and the incidence of chromosomal abnormalities. To determine whether the presence of chromosomal defects in fetuses with SUA is related to the side of the missing artery. METHODS: Color flow imaging of the fetal pelvis was used to determine the number of umbilical arteries in 2147 fetuses immediately before amniocentesis for karyotyping in the second trimester of pregnancy. RESULTS: SUA was diagnosed in 102/2147 (4.8%) cases. The left umbilical artery was absent in 60/102 (58.8%) fetuses, compared with the 42/102 (41.2%) for the right artery. The rate of chromosome abnormalities was significantly higher among fetuses with SUA than among those with 2 umbilical arteries (19/102 or 18.6% versus 109/2045 or 5.3%; OR = 4.1, 95% CI 2.3-7.1, p < 0.0001). Among fetuses with SUA, there was no significant difference in the rate of chromosome abnormalities between those with absence of the left versus the right artery (11/60 or 18.3% versus 8/42 or 19.0%, p = 0.93). There was an SUA in 5/39 (12.8%) cases with trisomy 21, 8/16 (50%) with trisomy 18, 1/4 (25%) with trisomy 13 and 5/69 (7.2%) with other chromosomal defects. There were no chromosome abnormalities in fetuses where a single umbilical artery was an isolated sonographic finding. All fetuses with SUA and chromosomal defects had associated abnormalities detected by ultrasound. CONCLUSION: A single umbilical artery (SUA) in the second trimester of pregnancy has a high association with trisomy 18, 13, 21 and other chromosomal defects, but all chromosomally abnormal fetuses had associated malformations detected by ultrasound. The absence of the left artery is more frequent than the absence of the right artery. The association with chromosomal abnormalities seems to be equal on each side.     

Umbilical artery blood flows among pregnancies with single umbilical artery: a prospective case-control study

Objectives: To evaluate peak systolic velocity (PSV) in the umbilical artery (UA) among patients with single umbilical artery (SUA) as compared with patients with three vessel cords.

Methods: A prospective case-control study was performed. UA blood flow velocimetry was obtained from fetuses with SUA and from a control group with three vessel cord. PSV and pulsatility index (PI) were measured. Patients’ characteristics were compared for statistical differences and a linear regression model was constructed for the different groups.

Results: UA Doppler velocimetry measurements were obtained from 29 patients with SUA and from 29 controls matched for gestational age. The differences between UA PI with and without SUA were significant (F?=?3.471; p?=?0.0379) showing a lower PI in the SUA group. However, no significant statistical difference was found in PSV between these two groups (F?=?0.149; p?=?0.86).

Conclusions: While the impedance in the UA of patients with a SUA was lower compared with patients with a normal umbilical cord, the PSV did not differ.     

Antenatal sonographic detection of single umbilical artery.

The absence of one umbilical artery of single umbilical artery (SUA) is one of the most common congenital malformations in man. This vascular anomaly of the umbilical cord is frequently associated with other congenital malformations as well as some adverse perinatal events such as intrauterine growth retardation (IUGR), premature delivery, and increased perinatal mortality. Five cases of SUA detected prenatally by ultrasound are reported here in detail, including the first reported case in a twin gestation. None of the 5 affected infants had associated anomalies, but 2 cases of intrauterine growth retardation (IUGR) and 1 stillborn infant were noted in this series. An umbilical vein/umbilical artery ratio less than 2 was invariably found in all cases, making this observation another useful sonographic characteristic to use in the antenatal detection of SUA. Since the umbilical cord can be easily seen prenatally by ultrasound, and SUA is recognized as an important index for detecting congenital malformations, examination of the umbilical cord for the absence of one umbilical artery is an extremely valuable tool in prenatal diagnosis. The prenatal detection of SUA demands an extensive search for associated anomalies and a close surveillance of fetal well-being, since these fetuses have a high risk of fetal death or IUGR. Sonologists and sonographers should be aware of the possibility of SUA, especially in those cases associated with congenital malformations or IUGR.     

Common iliac artery flow velocity waveforms in fetuses with a single umbilical artery: a longitudinal study

Objective In fetuses with a single umbilical artery the entire blood flow to the placenta is transported through the common and internal iliac arteries from the side of the single artery, whereas the pelvic vessels from the side of the missing artery do not participate in the fetoplacental circulation. The aim of this study was to investigate the effect of gestational age on pelvic arterial blood flow in fetuses with single umbilical artery.
Design In 15 fetuses with a single umbilical artery (SUA), common iliac artery flow velocity waveforms were studied longitudinally using high resolution colour Doppler ultrasonography at three gestational ages: 18 to 20 weeks, 28 to 30 weeks, and 35 to 37 weeks. The pulsatility index was measured in each common iliac artery and mixed model analysis of variance was used to examine the effect of gestational age and side.
Results There was a highly significant difference in pulsatility index between common iliac arteries at all gestational ages, the values always being higher on the side that did not participate in the fetoplacental circulation (   P < 0.001  ). For increasing gestation, the pulsatility index fell significantly in the SUA side but remained high in the non-SUA side (   P < 0.001  ).
Conclusions This study shows that the asymmetry in the pelvic arterial blood flow in fetuses with SUA increases as pregnancy progresses, consistent with decreasing vascular resistance in the placenta and increasing resistance in the lower extremities.     

Single umbilical artery: review of 12 cases

The umbilical cord normally consists of three vessels, two arteries and one vein. The absence of one umbilical artery or single umbilical artery (SUA) has been associated with some adverse perinatal events, such as low birth weight, prematurity, congenital malformations and perinatal mortality. The authors present 12 cases of SUA confirmed by histologic examination and the principal maternal and perinatal features of these cases are analyzed. In our study there were a prematurity rate of 58%, a low birth weight rate of 66% and a perinatal mortality rate of 580/1000. Among our patients, 42% of the infants with SUA had major congenital malformations. An accurate examination of the umbilical cord at delivery is suggested, mainly because SUA is an important index to detect associated congenital malformations.