胎儿腹水的产前诊断与预后

目的 探讨胎儿腹水的病因、诊断和预后.方法 对79例超声诊断为单胎胎儿腹水的产前诊断结果及妊娠结局进行回顾性分析.结果 79例中,超声提示56例(70.9%)为胎儿水肿综合征表现,23例(29.1%)为单纯性腹水.56例胎儿水肿综合征中29例(51.8%)伴心脏扩大.病因诊断显示79例中,30例为α-重型地中海贫血,9例宫内感染,3例母胎Rh血型不合,Turner综合征和13一三体各1例,胎儿脏器畸形引起的腹水19例,16例病因不明,病因的诊断率79.7%.随访中64例孕妇选择终止妊娠(5例胎死宫内),13例足月分娩(10例健存,包括7例胎粪性腹膜炎和3例特发性腹水),2例失访.结论 胎儿腹水病因复杂,α-重型地中海贫血、胎儿脏器结构畸形和宫内感染为主要病因.建议通过系统方案进行产前诊断并对预后作出评估.     

Meconium peritonitis and pseudo-cyst formation: prenatal diagnosis and post-natal course

OBJECTIVES: Intra-uterine bowel perforation can occur secondary to a variety of abnormalities and cause sterile peritonitis in the fetus (generalised = type I). If sealing of the perforation does not take place, a thick-walled pseudo-cyst can form (type II). METHODS: Over a 12-year period, 21 616 pregnancies were screened for gastro-intestinal malformations using prenatal ultrasound. We identified 1077 cases suspicious of surgically correctable malformations. Post-natal diagnoses and outcome were worked up retrospectively. RESULT: We found 96 fetuses with suspected gastro-intestinal malformations. Prenatal bowel perforation with meconium peritonitis was confirmed in 11 cases. In 5 of these 11, the correct diagnosis had been predicted prenatally. One child presented as a fetal and neonatal emergency (case report). Ten of the eleven infants were operated on during their first day of life. Intra-operative findings were atresia (n = 4), meconium ileus (n = 6) and no obvious cause (n = 1). Two children suffered fatal complications. CONCLUSION: Meconium peritonitis and meconium pseudo-cysts as its special manifestation are assessable by prenatal diagnosis but present in different ways. They can present as fetal ascites or echogenic bowel and cause fetal or neonatal distress, requiring close observation and highly specialised care.     

Investigation of nonimmune hydrops fetalis

Fifty pregnancies complicated by fetal ascites and generalized edema are reviewed and their prenatal findings, obstetric management, and fetal outcome are discussed. From the myriad of maternal, fetal, and placental problems which are known to cause nonimmune hydrops fetalis, many different causes of the disorder could be identified in 84% of all patients studied by extensive prenatal and postnatal workup. Therefore, in only 16% of the cases was the nonimmune hydrops fetalis labeled "idiopathic." The most common demonstrable causes of the disorder in this series were cardiac anomalies, followed by chromosomal disorders, congenital malformations, alpha-thalassemia, and the twin-twin transfusion syndrome. A systematic approach to the prenatal diagnostic workup of nonimmune hydrops fetalis is outlined, starting with the least invasive techniques (ultrasound, echocardiography, complete blood count, Kleihauer-Betke analysis, TORCH testing, and so forth) followed by more invasive techniques (amniocentesis and fetoscopy). Although the detection and prognostic evaluation of nonimmune hydrops fetalis are greatly improved by applying these techniques, the overall prognosis for most fetuses with nonimmune hydrops fetalis is still very poor, and only a few conditions causing the disorder, such as prenatally detected cardiac arrhythmias or selected cases of urinary tract obstruction, are amenable to treatment in utero.     

Postnatal management and outcome of prenatally diagnosed lung lesions

Advancements in fetal diagnostic imaging have increased prenatal diagnosis of many fetal anomalies. The purpose of this chapter is to review the etiology and natural history of prenatally diagnosed cystic lung lesions, including congenital cystic adenomatoid malformations (CCAM), pulmonary sequestrations (PSs), hybrid lesions, and bronchogenic cysts, and then discuss current concepts in the management and outcome of these lesions.     

Isolated fetal hydrothorax with hydrops: a systematic review of prenatal treatment options

OBJECTIVE: To evaluate the effect of prenatal therapeutic interventions on perinatal outcome in pregnancies complicated by isolated fetal hydrothorax with hydrops. METHODS: A systematic review of the literature from January 1982 to January 2006 of perinatal outcome in pregnancies with isolated fetal hydrothorax with hydrops with any form of prenatal treatment was conducted. RESULTS: Forty-four articles met our selection criteria, reporting a total of 172 fetuses treated prenatally. Reported treatment options were single (n = 13) or serial thoracocentesis (n = 18), thoraco-amniotic shunt placement (n = 100) or a combination of thoracocentesis and shunting (n = 36). Four case-reports described pleurodesis with OK-432, (n = 3) and intrapleural injection of autologous blood (n = 2). Overall survival rate was 63%, ranging from 54% for single thoracocentesis to 80% in the 5 cases treated with pleurodesis, without statistically significant differences between the treatment modalities. Shunt-placement with or without prior thoracocentesis was most often described, with survival rates of 67 and 61% respectively. DISCUSSION: The available literature consists exclusively of case reports and case series. This systematic review suggests that with prenatal intervention, perinatal survival rates around 63% are possible. There is a need for prospective, adequately controlled studies with long-term follow-up to determine the best treatment and more reliable outcome data in pregnancies complicated by fetal hydrothorax with hydrops.     

Diagnosis, etiology, and outcome of fetal ascites in a South African hospital

Objective

To analyze the etiology and outcome of fetal ascites in a hospital in a low-resource country.

Method

Data were reviewed for patients with fetal ascites who attended Groote Schuur Hospital, Cape Town, South Africa, from 1 January, 2006, to 31 December, 2009.

Results

There were 50 cases of fetal ascites. Prenatal investigations included detailed ultrasonography, Doppler studies, TORCH screening and chromosome analysis if amniocentesis was accepted by the patient. The underlying cause was diagnosed prenatally for 41 (82%) cases. The following etiologies were documented: secondary to a genetic cause (n = 10); structural fetal abnormality (n = 20); congenital syphilis (n = 4) or other infection (n = 3); fetal environment (n = 3); placenta (n = 3); and unknown origin (n = 7). The perinatal mortality was 72%. Factors predicting a poor prognosis included multiple abnormalities (100% fetal loss), cardiac anomalies (91% loss), hydrops fetalis (80% loss), and infection (71% loss). Ascites of unknown origin and ascites secondary to renal causes had the best prognosis (perinatal loss of 17% and 25%, respectively).

Conclusion

The cause, and therefore the prognosis, was identified in 82% of cases of fetal ascites. The prognosis for prenatally diagnosed ascites was poor; however, a few patients did well, which has important implications for genetic counseling.     

Antenatal detection and impact on outcome of congenital diaphragmatic hernia: a 12-year experience in Auvergne, France

OBJECTIVE: To evaluate the detection rate of prenatal diagnosis and its impact on outcome in congenital diaphragmatic hernia (CDH). STUDY DESIGN: We retrospectively studied 51 cases of CDH registered in the Auvergne area from January 1992 to December 2003 (Birth Defect Registry of Auvergne, Institut Européen des Génomutations). Our main outcome measurements were the detection rate of prenatal diagnosis, the incidence and types of associated anomalies and outcome (termination of pregnancy, in utero fetal demise, neonatal death, survival at the time of registration). RESULTS: Twenty-nine cases of isolated CDH were identified of which 13 were detected prenatally (45%) at a mean gestational age of 26.1 weeks and 22 cases of CDH with associated anomalies with prenatal diagnosis of CDH or any associated anomaly in 16 (73%; p=0.03) at a mean gestational age of 23.9 weeks. In the prenatally detected group (29 cases), there was 1 (3%) in utero fetal death (IUFD), 17 (59%) terminations of pregnancy (TOP) and 11 (38%) live births with early neonatal death in 7 (24%) cases despite delivery in a tertiary care centre in 10/11 cases (four survivors=14%). Most of the undetected cases were isolated CDH (16/22=73%) of which 1 (5%) was a stillborn and 21 (95%) live births with 17 survivors (77%) although 15/21 (71%) were not born at the tertiary care centre (p=0.001). The overall survival rate was 41% with a large variability depending on associated anomalies and prenatal diagnosis (p<0.0001) (prenatally detected cases: 3/13 (23%) isolated CDH and 1/16 (6%) CDH with associated anomalies; undetected cases: 13/16 (81%) isolated CDH and 4/6 (67%) CDH with associated anomalies). CONCLUSION: Prenatal diagnosis of CDH leads to the delivery of affected babies in tertiary care centres but it remains a challenge in particular for isolated CDH cases and it is associated with a lower survival rate. Associated anomalies contribute to prenatal detection, are related to a higher TOP rate but do not facilitate the detection of diaphragmatic defect per se.     

Omphalocele and gastroschisis: prenatal diagnosis and peripartal management. A case analysis of the years 1989-1997 at the Department of Obstetrics and Gynecology, University of Homburg/Saar

OBJECTIVE: The article presents a retrospective analysis (1989-1997) of the prenatal diagnosis, the course and completion of pregnancy of 26 fetuses with omphalocele and 18 fetuses with gastroschisis. SUBJECTS: 44 pregnancies with anterior fetal wall defect diagnosed by prenatal ultrasound, clinical or patho-anatomic examination between 1989 and 1997 at the Department of Obstetrics and Gynecology, University of Homburg/Saar. RESULTS: In 40 of 44 pregnancies (91%) the fetal ventral abdominal wall defect could be detected antenatally with ultrasound. Associated malformations in fetuses with omphalocele were seen in 18 cases (69%), whereas only five fetuses with gastroschisis (28%) had an associated malformation. Nineteen of 26 fetuses (73%) with omphalocele had a normal karyotype. Seven of 26 fetuses (27%) with omphalocele had an abnormal karyotype. Eleven fetuses with omphalocele were live born, three of them with minor anomalies. Ten babies with omphalocele survived. No chromosomal anomalies were detected in fetuses with gastroschisis. There were four gastrointestinal malformations and one lethal associated malformation in fetuses with gastroschisis. There were 15 live born babies with gastroschisis, all of whom have survived. In 20 of 44 cases (45%) with ventral abdominal wall defect oligohydramnios could be detected by ultrasound. In 28 of 44 cases (64%) we found fetal growth retardation <10th percentile for gestational age. CONCLUSION: In case of a fetal ventral abdominal wall defect, the detection and appropriate classification of associated fetal anomalies is of great importance for the further course of pregnancy. Fetal karyotyping should be offered in case of a fetal abdominal wall defect. Early and close prenatal consultation of the neonatologist and the pediatric surgeon will favorably influence the perinatal outcome.     

Prenatal diagnosis of congenital cytomegalovirus infection

OBJECTIVE: To assess prospectively the diagnostic reliability and prognostic significance of prenatal diagnosis of cytomegalovirus (CMV) infection. METHODS: One hundred ten pregnant women (four with twin pregnancies) with a risk of congenital CMV infection were investigated. Prenatal diagnosis was carried out by amniocentesis and fetal blood sampling (n = 75) or amniocentesis alone (n = 35). Serial ultrasonographic examinations were performed from time of referral until pregnancy end. All infected neonates were given long-term follow-up. Autopsy was performed in all cases of termination of pregnancy. RESULTS: Nearly 23% (26 of 114) of fetuses were infected and prenatal diagnosis was positive in 20 cases. Sensitivity of prenatal diagnosis was 77% and specificity 100%. In eight cases, parents requested termination of pregnancy on the basis of abnormal ultrasonographic findings and/or biologic abnormalities in fetal blood. In 12 cases, parents decided to proceed with the pregnancy. In this group, one intrauterine and one neonatal death were observed. In one case, prenatal diagnosis revealed an abnormal cerebral sonography and the infant had bilateral hearing loss at birth. In 15 cases (nine positive and six false-negative prenatal diagnoses), no apparent lesion was present at birth, nor did it develop during the follow-up period (mean 31 months). In 88 (77.2%) of 114 infants, no evidence of vertical transmission was found during the pre- or postnatal period. CONCLUSION: Prenatal diagnosis provides the optimal means for both diagnosing fetal infection (amniocentesis) and identifying fetuses at risk of severe sequelae (ultrasound examination, fetal blood sampling), thus allowing proper counseling.     

Fetal intra-abdominal calcifications from meconium peritonitis: sonographic predictors of postnatal surgery

OBJECTIVE: To study the relationship between prenatal ultrasound features and postnatal course of meconium peritonitis. STUDY DESIGN: We reviewed our cohort of cases of meconium peritonitis (MP) (n = 13/37, 225 pregnancies or 0.3/1000) as well as those published in the English literature with prenatal ultrasonographic findings and postnatal follow-up (n = 56). The total number of cases (n = 69) was divided into 4 grades of progressive severity based on the number of pertinent sonographic findings: grade 0, isolated intra-abdominal calcifications (n = 18); grade 1, intra-abdominal calcifications and ascites (n = 17) or pseudocyst (n = 2) or bowel dilatation (n = 6); grade 2, two associated findings (n = 20); and grade 3, all sonographic features (n = 6). Presence of polyhydramnios was also recorded. Prenatal predictors of need for neonatal surgery and risk of neonatal death were identified using Chi-square and Fisher exact test, with P < 0.05 considered significant. RESULTS: Neonatal surgical intervention was required in 0% (0/18) of newborns with grade 0 MP; in 52% (13/25) of those with grade 1; in 80% (16/20) with grade 2; and in 100% (6/6) with grade 3 MP (P < 0.001, Chi-square for trend). Moreover, neonatal surgery was more frequent in the presence than absence of polyhydramnios [69% (18/26) vs 37% (16/43); P = 0.007]. Neonatal mortality was 6% (4/69; 3 after surgery and 1 for premature delivery) and it was confined to the subgroup with polyhydramnios (4/26, 15%). CONCLUSIONS: Prenatal sonographic features are related to postnatal outcome. Persistently isolated intra-abdominal calcifications have an excellent outcome. Delivery in a tertiary care center is recommended when calcifications are associated with other sonographic findings.     

Fetal lateral cerebral ventriculomegaly: associated malformations and chromosomal defects

In 267 consecutive cases of fetal lateral cerebral ventriculomegaly, additional fetal malformations were detected by ultrasonography in 209 (78%) of the cases. On the basis of the ultrasound findings, the patients were subdivided into three groups: (i) isolated ventriculomegaly (n = 58), (ii) ventriculomegaly and open spina bifida only (n = 172), and (iii) ventriculomegaly and other malformations (n = 37) with or without spina bifida. Antenatal karyotyping was performed in 64 cases from groups (i) and (iii), and 11 (18%) of the fetuses had chromosomal abnormalities. The incidence of chromosomal abnormalities was strongly related to the presence of multisystem malformations. Thus, only 3% of fetuses with isolated ventriculomegaly as opposed to 36% of those with additional malformations had chromosomal defects. Furthermore, the degree of ventriculomegaly in the chromosomally abnormal fetuses was relatively mild. In the chromosomally normal fetuses, mild, static ventriculomegaly was associated with apparently normal subsequent mental development.     

Associated anomalies with neural tube defects in fetal autopsies

Neural tube defects (NTD), the consequences of aberrant neural tube closure during embryogenesis, have been mostly investigated in terms of their high prevalence, rate of mortalities and serious morbidities. A proper prenatal outcome counseling of couples coming across a fetal anomaly necessitates the detection and categorization of the primer abnormality, all the co-existing malformations. The aim of this work is to study the incidence and relevance of associated malformations in order to offer a complete pathology report with a true diagnosis. In this study, among 542 fetal autopsy 62 (%11.4) cases with NTD was recorded by the Akdeniz University Pathology Department between January 2006 and June 2012. Twenty (32.4%) NTD cases were associated with anomaly. Twelve cases of associated groups consisted of a congenital syndrome/association, spondylothoracic dysplasia, amniotic band syndrome, Meckel–Gruber syndrome, schisis association. The frequency of associated NTD was 32%, this result was higher than previous reports. NTDs have a significant genetic component to their etiology that interacts with environmental risk factors, which might pose Turkey to be a country with high prevalence of NTD. We want to emphasize that intensive screening, documentation of co-existent abnormalities of NTD, should be conducted in order to exhibit certain diagnosis, to perform proper prenatal genetic counseling of parents for on-going/future pregnancies.     

连续顺序追踪超声法检测胎儿肢体畸形

目的 探讨连续顺序追踪超声法(SCSA)在诊断胎儿肢体畸形中的价值。方法 应用彩色多普勒超声仪,对2000年8月-2002年9月在我院产前检查的4932例孕妇,行胎儿肢体SCSA检测,观察胎儿肢体形态、结构、姿势、运动等异常。结果 4932例中,4750例(96．3％)完整显示胎儿四肢骨性结构的长轴与短轴切面。SCSA检出34例,19种98处(87．2％)胎儿肢体畸形,经产后证实的各种肢体畸形39例,100条肢体受累,涉及畸形28种114处。SCSA诊断胎儿肢体畸形的敏感性、特异性、准确性、阳性预测值、阴性预测值分别为87．2％,99．8％,99．2％,81．0％,99．9％。结论 SCSA是显示胎儿肢体结构与诊断胎儿肢体畸形的重要影像学诊断方法。     

Prenatal isolated mild ventriculomegaly: outcome in 167 cases

OBJECTIVE: To define the contribution of prenatal investigation and evaluate the prognosis of isolated mild ventriculomegaly (IMV). DESIGN: Retrospective study. SETTING: University hospital between January 1992 and December 2002. POPULATION: One hundred and sixty-seven cases of prenatal unilateral or bilateral IMV without any associated anomaly at the time of initial diagnosis. METHODS: Complementary investigations were performed: amniocentesis with karyotyping, screening for viruses and acetylcholinesterase electrophoresis, magnetic resonance imaging (MRI), and ultrasonography every 3-4 weeks. MAIN OUTCOME MEASURES: Results of prenatal investigations, pregnancy outcome, and postnatal psychomotor development. RESULTS: IMV was diagnosed around 26.5 weeks. Amniocentesis revealed four chromosomal anomalies and two cytomegalovirus infections. MRI diagnosed brain-associated anomalies in 15 cases and ultrasonographic monitoring highlighted malformations not initially diagnosed in 28 cases. Termination of pregnancy (TOP) was considered in 21 pregnancies (12.6%). Indications were aneuploidy, fetal infectious disease or associated malformations. In women for whom a TOP was considered, consanguinity, fetus of female sex and frontal horn enlargement were statistically more frequent, ventriculomegaly was more often bilateral and asymmetrical, atrial width, and the rate of progressive ventricular enlargement were significantly higher. One hundred and one children with prenatal IMV were assessed between 19 and 127 months (mean age 54.68 +/- 2.87 months). Twelve children had neurological disease or psychomotor delay and 89 children had a normal psychomotor development. Poor neurological outcome was more often associated with atrial width greater than or equal to 12 mm, asymmetrical bilateral enlargement, and progression of the ventriculomegaly. CONCLUSION: The detection of IMV raises the question of the child's psychomotor development and justifies meticulous prenatal investigation. In addition to associated anomalies, three criteria are often associated with an unfavourable outcome: atrial width greater than 12 mm, progression of the enlargement, and asymmetrical and bilateral ventriculomegaly.     

孤立性的胎儿胸腔及腹腔积液的临床咨询及处理

孤立性的胎儿胸腔积液及腹腔积液均为产前罕见的胎儿疾病,一般分为原发性及继发性两种。原发性胎儿胸腔积液及腹腔积液的发生多与淋巴管发育异常相关,而继发性的病因复杂,预后也更为多样。文章针对孤立性的胎儿胸腔积液及腹腔积液的病因、产前诊断、胎儿医学咨询及处理进行了论述。     

Etiology and outcome of fetuses with functional heart disease

BACKGROUND: The aim of this study was to assess the etiology and outcome of fetuses with functional heart disease as detected by echocardiography. METHODS: In total, 51 fetuses (median gestation age of 28.6 weeks) were included. The inclusion criteria were hydrops (n = 14), pericardial effusion (PE; n = 9), tricuspid valve regurgitation (TR; n = 8), hypertrophic cardiomyopathy (HCM; n = 7) and dilated cardiomyopathy (DCM; n = 7). Antenatal management was performed for 17 of 51 fetuses (33%): two abortions, nine digoxin administrations, three thoracocenteses, one pericardial puncture, one blood transfusion and one ascites centesis. RESULTS: The etiology of functional heart disease was twin pregnancy in 18, fetal lung lesions in five, maternal diabetes in five, fetal anemia in four, extracardiac or chromosomal abnormalities in three, infection in three, teratoma or arteriovenous malformation in four, indomethacin administration in two, endocardial fibroelastosis in two, maternal anaphylaxia in one, idiopathic arterial calcification of infancy (IACI) in one, pregnancy-induced hypertension (PIH) in one, and unknown in two fetuses. There was no significant difference between fetuses with and without treatment (53% vs. 79%; p = 0.06). There were two stillbirths and 12 postnatal deaths (29%). Among 35 surviving infants, 85% were free of symptoms in the follow-up (mean 3.9 years). CONCLUSIONS: These findings indicate that a functional heart disease in utero is associated with very varying etiology and high mortality. Improved understanding of the hemodynamic findings may lead to treatment that is more successful.     

Spontaneous resolution of severe fetal ascites in the second trimester: a case report

BACKGROUND: Fetal ascites is an infrequent anomaly. The prognosis for fetal and neonatal survival is poor, especially with the development of ascites before 24 weeks' gestation. The spontaneous remission of severe fetal ascites without intrauterine treatment, especially with an uncomplicated neonatal outcome, is extremely rare. CASE: A woman had sonographically documented fetal ascites at 19 weeks' gestation. The workup for immunologic and nonimmunologic causes was negative. Serial ultrasound examination showed ascites from 19 to 28 weeks' gestation. A complete resolution of the ascites was noted at 33 weeks' gestation. A normal male infant was vaginally delivered at 39 weeks' gestation. CONCLUSION: Spontaneous resolution of fetal ascites, with a good prognosis, can occur in cases with an idiopathic etiology.     

Outcome of cystic hygroma in fetuses with normal karyotypes depends on associated findings

OBJECTIVE: To determine the associated diagnostic findings which are linked with adverse fetal outcome in nuchal cystic hygroma. STUDY DESIGN: Based on a series of 32 cases, we determined the sonographic morphology of the hygroma, associated structural anomalies, karyotypes and autopsy findings. Intrauterine fetal death, spontaneous abortion and abnormal karyotypes were assigned as adverse outcome parameters. RESULTS: The mean gestational age at diagnosis was 14.4 weeks (range 10-21). There were 18 nonseptated and 14 septated hygromas. Besides hygroma, associated sonographic detectable structural anomalies were observed in 17 cases (53.1%). The greatest number of associated sonographic anomalies were hydrops (31.3%), generalised skin oedema (6.3%) and pterygium colli (6.3%). Cytogenetic analysis revealed an abnormal karyotype in 13 of 26 (50%) invasive procedures. Turner syndrome and Trisomy 18 (both 15.4%) were the most frequent cytogenetic abnormalities. Autopsy was performed in 24 cases and 16 cases (66.7%) had an associated autopsy finding to hygroma colli. The most frequent associated autopsy findings were limb and craniofacial anomalies (both 25%). Only 3 (9.4%) mothers gave birth to healthy newborns. The overall fetal adverse outcome rate was 68.8% (22 cases). CONCLUSIONS: Fetuses with NCH are at high risk for adverse outcome and detailed prenatal diagnosis including invasive procedures should be offered. According to the presented autopsy findings, to determine fetal outcome in NCH cases with normal karyotypes, detailed sonography should be concentrated beside the exclusion of fetal heart defects and existence of hydrops fetalis, on the skeletal, urogenital and craniofacial anomalies, as these might cause severe morbidity.     

Prenatally diagnosed fetal lung lesions with associated conotruncal heart defects: is there a genetic association?

Congenital lung malformation can easily be diagnosed by prenatal ultrasound. Associated extrapulmonary malformations such as heart defects and chromosomal aberrations are rare.OBJECTIVE: The objective of this study was to describe the natural history, outcome and other associated malformations in fetuses with lung lesions and an associated heart defect. METHODS: Retrospective analysis of 4 cases of prenatally diagnosed fetal CCAMs and hybrid lesions with an associated heart defect and review of 8 cases in the literature. RESULTS: At a single referral center 1.9% of the fetuses with Congenital cystic adenomatoid malformation (CCAM) were diagnosed with an associated heart defect. Seven of the total 12 cases (58%) reviewed had a conotruncal heart abnormality. Chromosomal abnormalities were found in 5 (42%) of the cases. CONCLUSION: This retrospective review shows that karyotyping in fetal lung lesions with an associated heart defect or isolated large lung lesions is indicated. It also suggests that there is a subpopulation of fetuses with CCAMs who have conotruncal heart defects. This finding may suggest a common genetic background.     

Perinatal outcome after ultrasound prenatal diagnosis of persistent right umbilical vein

Objective

Our aim was to describe ultrasound findings and perinatal outcome after prenatal diagnosis of persistent right umbilical vein (PRUV).

Study design

We performed a retrospective analysis of fetuses with an ultrasound-based prenatal diagnosis of PRUV on record at 2 tertiary centers in Madrid, Spain. We describe clinical, maternal, fetal and perinatal variables for all cases.

Results

A total of 20,426 fetuses were delivered between the study centers. We detected 22 cases (0.1%) of PRUV. The male-to-female ratio was 1:1. All cases were intrahepatic type and diagnosed during the second and third trimesters (median, 21 weeks; IQR, 20–29 weeks). Doppler ultrasound revealed normal flow in the ductus venosus in all cases. Nine fetuses (40.9%) had additional ultrasound anomalies but no chromosomal abnormalities. Cardiovascular malformations were the most frequently associated congenital anomalies (4/9), followed by neurological malformations (2/9). In 5 of the cases with no concomitant anomalies, the weight of the newborn was below the tenth percentile for gestational age. Gestational development was normal for the remaining newborns. Delivery was unremarkable, and post-natal evolution was favorable.

Conclusion

Our results point to a potential association between PRUV and other fetal malformations and a very low rate of chromosomal abnormalities. Prenatal diagnosis of PRUV should be followed by detailed anatomical evaluation and echocardiography in order to rule out other structural malformations. The indication for a fetal karyotype study must be made on an individual basis considering PRUV type and other ultrasound findings.