Perinatal results following the prenatal ultrasound diagnosis of single umbilical artery

OBJECTIVE. To study the perinatal results in our population, following the prenatal ultrasound diagnosis of a single umbilical artery (SUA), as this alteration is associated with fetal malformations, chromosomal abnormality, and poor perinatal results. MATERIALS AND METHODS. A retrospective review of all obstetric ultrasounds carried out between October 2000 and December 2003 in our service, obtaining the postnatal results of the fetuses diagnosed with an SUA. RESULTS. From a total of 5,987 pregnant patients examined by ultrasound scan at 20th week, an SUA was found in 40 cases, representing an incidence of 0.7%. Of these, 84.6% were normal pregnancies at birth and 15.4% presented other malformations and/or chromosomal abnormalities. No aneuploidy was found in pregnancies where there were no other associated findings in the ultrasound scan at 20 weeks. All cases with serious congenital malformations accompanying the SUA were diagnosed prenatally. There was a 5% of perinatal mortality rate among our fetuses with SUA, which represents a mortality rate 10 times greater than the overall rate among our patients. CONCLUSIONS. The ultrasound discovery of an SUA implies the meticulous search for other associated malformations, and in the absence of these, the risk of a chromosomal abnormality is very low, unless it is a high-risk patient. However, the growth and wellbeing of the fetus must be carefully monitored in the last 3 months, although the ultrasound scan does not show any other associated alterations.     

Perinatal outcome following fetal single umbilical artery diagnosis

OBJECTIVE: We report the frequency of associated congenital abnormalities in fetuses with a single umbilical artery as well as the sensitivity, specificity, positive predictive value and negative predictive value of ultrasound for detecting these abnormalities. We also report the pregnancy outcome of fetuses complicated by single umbilical artery, both isolated and with other congenital anomalies. METHODS: All pregnancies complicated by fetal single umbilical artery from 1995 to 1999 were identified. A retrospective chart review was performed on both the prenatal records and the ultrasound records of these pregnancies, determining the nature and incidence of other congenital abnormalities. Delivery data were collected to include gestational age at delivery, Apgar score, birth weight, mode of delivery, fetal gender and any complications. RESULTS: Ninety-two pregnancies were identified with a fetal single umbilical artery, of which outcome data were available for 65. Forty-eight (74%) cases were identified as isolated single umbilical artery. Seventeen (26%) cases had other congenital abnormalities. High-resolution ultrasound had 100% sensitivity and specificity for identifying single umbilical artery and an 85% sensitivity and 98% specificity for detecting other congenital abnormalities. Compared to isolated single umbilical artery, pregnancies complicated by single umbilical artery with other abnormalities had a statistically significantly increased rate of fetal aneuploidy, lower birth weight, preterm delivery and Cesarean delivery. CONCLUSION: Pregnancies complicated by fetal single umbilical artery, especially when associated with other congenital abnormalities, are at increased risk for adverse pregnancy outcome.     

Single umbilical artery is associated with an increased incidence of structural and chromosomal anomalies and growth restriction

The objective to characterize neonatal outcome associated with ultrasonographic identification of a single umbilical artery. Pregnancies diagnosed with single umbilical artery antenatally were identified. All prenatal/antenatal and pediatric records were reviewed for maternal demographics, associated anomalies, karyotypic analysis, pregnancy complications, and neonatal outcome. Twenty-seven pregnancies complicated by fetal single umbilical artery were identified. Of the 27 pregnancies, 5 (18.5%) underwent pregnancy termination and 1 (3.7%) experienced fetal demise. Of the 21 liveborn infants, 4 (19%) died within the first year of life. Sixty-seven percent of fetuses had an associated structural anomaly. Sixteen of the 27 pregnancies underwent amniocentesis and 7 of these were chromosomally abnormal. All of the karyotypically abnormal fetuses had a structural defect in addition to the single umbilical artery. Of the six fetuses without any associated structural or chromosomal anomalies, three (50%) demonstrated growth restriction. Single umbilical artery is relatively rare finding. When a single umbilical artery is identified, a vigilant search for associated anomalies should be undertaken. Pregnancies identified as having fetuses with associated structural anomalies should be offered amniocentesis. Pregnancies with isolated single umbilical artery should be carefully monitored for evidence of fetal growth restriction.     

Prenatal diagnosis by transabdominal chorionic villus sampling in the second and third trimesters

From October 1989 through December 1993, 124 pregnant women (114 in the second trimester and 10 in the third trimester) underwent transabdominal chorionic villus sampling (CVS) for prenatal molecular or cytogenetic diagnosis. The mean gestational age was 18.2 weeks. Indications for CVS comprised single gene disease (72%), fetal anomalies detected by ultrasound (17%), advanced maternal age (6%), and previous siblings with chromosomal aberration (5%). Among the 89 fetuses at risk for single gene disease, 20 were diagnosed as affected by DNA analysis. Among the 35 fetuses at risk for chromosomal anomaly, 4 had trisomy, 3 had a 45, XO karyotype and 2 had a structural chromosomal abnormality. The miscarriage rate was 1.8% (2/114) and the spontaneous preterm birth rate was 2.4% (3/124). No maternal or other fetal complications occurred. This study suggested that second- and third trimester CVS is a safe and useful method for prenatal diagnosis.     

Single umbilical artery--consequences of prenatal diagnosis]

The authors report about the prenatal diagnosis of 34 cases of fetuses with a single umbilical artery (SUA) observed at the Perinatal Center of Charité. Between January 1989 and June 1991 the SUA has been associated with some adverse perinatal events, such as low birth weight (35%), congenital malformations (35%), perinatal mortality (11%) and placental alterations (76%). The incidence was not higher in girls than in boys. We did not find any chromosomal anomalies in our cases. An accurate ultrasonographic examination of the SUA in the 16th to 20th week is very important. The prognosis of the newborn could be improved by efficient diagnosis and optimum management of pregnancy and of delivery at a perinatal center.     

Prevalence of fetal left ventricular hyperechogenic foci in a low risk population

Objective To ascertain the prevalence and clinical significance of small hyperechogenic foci detected in the fetal left ventricle in routine ultrasound screening of pregnant women attending our hospital.
Population and methods From April 1994 to April 1995, 1135 consecutive pregnant women examined at the obstetric ultrasound unit of our hospital were studied prospectively. A postnatal cardiologic examination was performed when signs of cardiopathy were observed at the prenatal ultrasound investigation or the neonatal examination.
Results Congenital heart disease was detected in 10/1148 infants born (0.9%); eight diagnoses were made prenatally (detection rate 80%). The prevalence of left ventricular hyperechogenic foci was 3.2% (37/1148 fetuses). In 35 cases (94.6%) the foci were no longer observed at the routine third trimester examination. Only in two cases (5.4%) did foci persist at the postnatal examination but without clinical signs of cardiopathy or karyotype anomalies. No association was observed between foci and major structural abnormalities. The foci were single in 32 cases (86.5%). Four foci (10.8%) were located at the interventricular septum, five (13.5%) bilaterally at the papillary apparatus of the mitral valve, and the others at the ventricular wall. No focus was associated with incompetence of the affected valve, whereas five (13.5%) were associated with a fetal disorder.
Conclusions The prevalence of intracardiac hyperechogenic foci in our general population considered at low risk was more than five times greater than that reported in the literature. Foci were not associated with structural heart defects or chromosomal abnormalities. Persistence during the third trimester and postnatal life was rare and without evident signs of heart disease.     

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.     

Incidence of fetal chromosomal aberration in prenatal cytogenetic examination

One thousand forty-seven fetal samples were obtained from women who received the prenatal cytogenetic examination for different reasons. In this study, the incidence of fetal chromosomal aberration related to each reason was analyzed. The incidence of de novo chromosomal aberration in the fetuses of the higher maternal age group was 1.5% (8/525: 4 cases of 21-trisomy, 2 cases of 18-trisomy and 2 cases of 47,XXY). The incidence in the group of women who had borne (a) chromosomally abnormal child(ren) was 0.5% (1/202). There was no repeat of 21-trisomy, 18-trisomy or 13-trisomy in this study. The incidence in the group of women who had ultrasonographic abnormalities was 16.9% (26/154). In this study, abnormal amniotic fluid volume, intrauterine growth retardation, malformation, hydrops fetalis, intestinal obstruction, omphalocele, single cord artery and cerebellar hypoplasia were related to chromosomal aberrations. The incidence in the group of women whose husband or herself was cytogenetically abnormal was 40.0% (26/65). This high value indicated that parental translocation and inversion are easily transmitted to their offspring.     

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.     

Prenatally diagnosed balanced chromosome rearrangements: eight years' experience

OBJECTIVE: To investigate the incidence and pregnancy outcome of prenatally diagnosed balanced chromosome rearrangements from amniocentesis. STUDY DESIGN: Between January 1996 and December 2003, we collected cases with balanced chromosome rearrangements from amniocentesis specimens submitted to our cytogenetics laboratory for fetal karyotyping. Data on maternal age, indication for amniocentesis, detailed anatomic sonographic findings, gestational age at delivery, newborn birth weight and infant anomalies, if any, were obtained by chart review. RESULTS: A total of 66 cases of balanced chromosomal translocations or inversions were identified from the 12,468 amniocentesis specimens. Specifically, 0.256% had a reciprocal translocation, 0.080% had a Robertsonian translocation, and 0.192% had an inversion. The incidences of de novo reciprocal translocations, Robertsonian translocations and inversions were 0.080%, 0.016% and 0.024%, respectively. Abnormal prenatal sonographic findings occurred in 2 cases, 1 in an inherited case and 1 in a de novo case. Abnormal postnatal findings occurred in 5 cases, 3 in inherited cases and 2 in de novo cases. Excluding the cases with minor congenital anomalies, the major congenital anomaly rates of inherited and de novo chromosome rearrangements were 1.96% and 6.66%, respectively. CONCLUSION: The incidences of prenatally diagnosed de novo reciprocal translocations, de novo Robertsonian translocations and de novo inversions were higher than those reported in previous, larger series. The major congenital anomaly rates for inherited and de novo chromosome rearrangements were higher than the 1.4% congenital anomaly rate in our general population. Consequently, detailed ultrasound examination and parental karyotyping should be viewed as essential measures in dealing with prenatally diagnosed balanced chromosome rearrangements.     

The role of fetal echocardiography and genetic sonography in prenatal diagnosis of the Edward's syndrome--analysis of the thirty case diagnosed at the Department of the Diagnosis for Fetal Malformations at the Institute "Polish Mother's Memorial Hospital."

OBJECTIVE: Trisomy 18 (Edward's syndrome) is one of the most common chromosomal aberration in fetuses/neonates. The aim of our study was to assess the usefulness of the fetal echocardiography and genetic sonography in prenatal diagnosis trisomy 18 (retrospective analysis). MATERIAL AND METHOD: Between 1994-2000 at the Institute "Polish Mother's Memorial Hospital" 30 cases of trisomy 18 were diagnosed. RESULTS: Every fetus/neonate presented with congenital anomalies. The most common were: intrauterine growth retardation (96%) and congenital heart defects (92%). CONCLUSIONS: Retrospective analysis indicates the great role of "genetic sonography" and fetal echocardiography in prenatal diagnosis of trisomy 18.     

Diagnosis and prognosis in double-outlet right ventricle

The aim of this study was to examine prenatal diagnosis of double-outlet right ventricle (DORV)-associated anomalies and prognosis of each case. Medical records were reviewed of fetuses with DORV who had fetal echocardiography at our institution from 2002 to 2006. Pre- and postnatal diagnosis and outcome were compared and evaluated. Twenty-one fetuses were diagnosed with DORV. The pregnancy was terminated in seven cases. Three cases had chromosomal abnormalities; three cases, hypoplastic left ventricle; and one case, encephalocele. Accurate prenatal diagnosis of the ventricular septal defect, outflow obstruction, and great artery relationship was achieved in 14 of 16 cases (87.5%). Only 2 of 13 live-born cases survived beyond 6 months. The overall prognosis for fetuses with DORV is poor. DORV is found in fetuses with a huge spectrum of associated cardiac and extracardiac anomalies. Careful assessment by fetal echocardiography can determine important anatomic details with adequate correctness for precise counseling.     

血管前置的产前超声诊断

目的探讨血管前置的高危因素和产前超声诊断的价值。 方法回顾性分析2012年1月至2014年6月就诊于广东省妇幼保健院行产前超声检查和(或)临床诊断为妊娠合并血管前置患者的超声声像图资料,并追踪妊娠结局。 结果产前超声共检出血管前置18例,其中1例脐带先露误诊为血管前置;漏诊1例。确诊为血管前置病例共计18例,其中16例(88.9%,16/18)为单胎妊娠,2例(11.1%,2/18)为三胎妊娠;合并低置胎盘9例(50.0%,9/18),帆状胎盘8例(44.4%,8/18),副胎盘2例(11.1%,2/18),球拍状胎盘2例(11.1%,2/18),单脐动脉3例(16.8%,3/18)。18例胎儿中,早产9例(50.0%,9/18),足月产8例(44.4%,8/18),1例(5.6%,1/18)因胎儿结构异常引产。产前超声检查漏诊的1例患者,足月妊娠经阴道分娩时大出血,胎儿死亡。 结论胎盘异常是血管前置的高危因素,需重视产前超声检查,及时诊断和处理,可有效避免不良妊娠结局的发生。     

Ultrasonographic diagnosis and perinatal management of fetal abdominal wall defects.

Thirty-four fetuses with ultrasonographically diagnosed abdominal wall defects are described. In 20 out of the 25 (80%) cases with omphalocele, there were associated abnormalities, mainly chromosomal defects (48%), cardiac (28%), genitourinary (20%), craniofacial (20%) and diaphragmatic anomalies (12%). In gastroschisis, associated structural anomalies occurred in 2 out of 5. The 4 cases of abdominal wall defects as a part of amniotic band syndrome were associated with multiple severe defects. No chromosomal defects were found in the group with gastroschisis and amniotic band syndrome. Intrauterine fetal death occurred in 8 cases. Sixteen pregnancies were electively aborted because of an association with an anomaly incompatible with postnatal life; 3 pregnancies were electively terminated on their parents' own request. Two infants died shortly after birth. Seven infants were successfully treated. When level I ultrasound examination demonstrates a fetal abdominal wall defect, a detailed level II ultrasound examination is recommended to exclude associated malformations. In case of omphalocele, prenatal chromosome analysis is indicated. Delivery in a tertiary care center is recommended. A randomized prospective trial is needed to see whether cesarean section or vaginal delivery is the preferred mode of delivery for these infants.     

Clinical significance of the umbilical cord twist

OBJECTIVE: The objective of this study was to determine the clinical significance of the umbilical cord twist direction. STUDY DESIGN: Two hundred singleton third-trimester placentas with a right umbilical cord twist and 200 placentas with a left umbilical cord twist, which was determined by pathologic examination, were included. Maternal and neonatal outcomes were compared with the use of Fisher's exact and Mann Whitney U tests; a probability value of <.05 considered statistically significant. RESULTS: Placenta previa was more common in patients with a right umbilical cord twist compared with a left umbilical cord twist (6.0% vs 1.5%; P<.05). There was a trend towards an increased incidence of single umbilical artery in patients with a right umbilical cord twist (2.5% vs 0%; P=.06). The incidence of fetal demise, intrauterine growth restriction, chromosomal abnormalities, congenital anomalies, preterm delivery, infant gender, birth weight, maternal age, and parity were similar between the 2 groups. CONCLUSION: Placenta previa is associated with a right umbilical cord twist.     

Fetal genital anomalies: an aid to diagnosis

OBJECTIVE: To report our experience with the prenatal diagnosis of fetal genital anomalies and suggest a protocol for management. METHODS: A retrospective review of all the cases with fetal genital anomalies or phenotype and genotype discrepancy identified by prenatal ultrasound. RESULTS: Twenty cases with abnormal fetal genitalia and four with a phenotype and genotype discrepancy were diagnosed prenatally. Genital anomalies were rarely found in isolation, most were found in combination with renal or multiple structural anomalies. The etiology of abnormal genitalia was broad and included metabolic, chromosomal and genetic syndromes. CONCLUSION: Prenatal detection of genital anomalies should stimulate a detailed ultrasound examination and determination of genotypic sex. Measurement of 17-OHP and Delta(4)-androstenedione or metabolites of the cholesterol pathway in the amniotic fluid and/or maternal urine may be helpful in making a definitive diagnosis. Identification of genital anomalies in fetuses with renal or multiple abnormalities can aid prenatal diagnosis, thereby facilitating accurate counseling of parents who are then in a better position to make informed choices.     

产前胎儿超声异常标记作为侵入性产前诊断指征的临床应用

目的:探讨产前胎儿超声异常标记作为侵入性产前诊断指征的临床应用。方法:选择由于产前超声检查见胎儿异常标记而行产前胎儿染色体核型分析的孕妇750例,检测胎儿的染色体异常率。对孕妇年龄<35岁(A组,n=658)与≥35岁(B组,n=92)、超声检查到胎儿有单项异常标记(C组,n=496)与胎儿有≥2项异常标记(D组,n=254),分别比较染色体异常率。结果:750例孕妇中检出胎儿染色体数目异常44例,胎儿染色体异常率为5.9%。A组检出染色体异常率为4.6%(30/658),显著低于B组的15.2%(14/92)(P<0.01)。C组检出染色体异常率为2.8%(14/496),显著低于D组的11.8%(30/254)(P<0.01)。结论:胎儿超声异常标记作为侵入性产前诊断指征,会有较多的胎儿染色体异常被检出,但须合理和谨慎选择。     

Cytogenetic investigation of fetuses and infants conceived through intracytoplasmic sperm injection

Objective: To determine the incidence of aneuploidy among fetuses and infants conceived through intracytoplasmic sperm injection (ICSI) in our clinic using umbilical cord blood samples.

Design: Follow-up study of the cytogenetic outcome of ICSI pregnancies.

Setting: University-based IVF clinic.

Patient(s): Forty-six couples who underwent ICSI and conceived.

Intervention(s): Umbilical cord blood was taken after delivery of the infant for analysis. Samples of chorionic villi and chorion were taken for studies on the spontaneous abortuses. Amniocentesis was performed for couples that chose prenatal diagnosis.

Main Outcome Measure(s): The cytogenetic chromosomal status of the pregnancy outcome.

Result(s): Fifty pregnancies and 55 live births were recorded, with nine spontaneous abortions. Of 43 separate umbilical cord blood samples analyzed, 1 abnormality (2%) was found, 45, XX,+21. Nine births went through prenatal diagnosis alone, with four accepting both forms of analysis—no abnormalities were found. Origin of abnormality was established in two spontaneous abortion cases (45, XO and 45, XY,−21), and the maternal chromosome was lost in both cases.

Conclusion(s): Using umbilical cord blood obtained after birth, we obtained karyotype results from 78% of the ICSI population in our clinic. Combined with results from five additional cases that underwent prenatal diagnosis but not umbilical cord blood sampling, a chromosomal result was obtained in 87% of our ICSI population. The use of umbilical cord blood for cytogenetic analysis substantially improves the ability to determine rates of chromosomal abnormalities in newborns produced via ICSI clinics.     

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.     

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.