Accuracy of prenatal diagnosis of renal agenesis with color flow imaging in severe second-trimester oligohydramnios

OBJECTIVE: Our purpose was to examine the potential of color flow imaging to assess the presence of renal arteries in second-trimester pregnancies complicated by severe oligohydramnios.STUDY DESIGN: Thirty-three consecutive second-trimester pregnancies referred with severe oligohydramnios were prospectively studied with high-resolution color Doppler ultrasonography to establish the presence or absence of renal arteries. Prenatal findings were correlated with the presence or absence of fetal kidneys at postmortem or postnatal examination.RESULTS: Neither renal artery was visualized in eight fetuses; postmortem examination confirmed bilateral renal agenesis in seven and unilateral renal agenesis with a contralateral atrophic multicystic kidney in the other. Only one renal artery was seen in three; postmortem examination demonstrated unilateral renal agenesis in two fetuses and bilateral multicystic dysplastic kidneys in the other. Postmortem or postnatal evaluation confirmed the presence of both kidneys in all 22 fetuses in which both renal arteries were identified prenatally.CONCLUSIONS: Color Doppler ultrasonography is useful in the prenatal evaluation of fetuses with severe second-trimester oligohydramnios to demonstrate the presence or absence of renal arteries. This technique should be added to the armamentarium of prenatal tests to evaluate second-trimester fetuses with severe oligohydramnios.     

Situs ambiguo asociado a cardiopatía e interrupción de la vena cava inferior con continuidad de la ácigos

There is a spectrum of heterotaxic syndromes between normal organ distribution (situs solitus) and congenital conditions in which major organs are mirrored from their normal position (situs inversus). The two main modalities are left isomerism (with polysplenia) and right isomerism (with asplenia). Heterotaxic defects involve ciliary dyskinesia, hampering migration of embryonic organs and leading to malposition of thoracic and abdominal organs, complex cardiac defects, and other malformations. We present a case of prenatal echographic diagnosis of levocardia, with left-sided liver, asplenia, congenital heart disease, and interruption of the inferior vena cava with azygos continuation. Because of the malformations frequently associated with heterotaxy, the position of fetal organs should form part of routine ultrasonographic examination.     

Right aortic arch with aberrant left subclavian artery--prenatal diagnosis and evaluation of postnatal outcomes: report of three cases

ObjectiveTo present prenatal diagnosis of a right aortic arch (RAA) with an aberrant left subclavian artery (LSCA) by the three vessels and trachea (3VT) view using routine ultrasound and the newer technique of three-dimensional power Doppler ultrasound (3D-PDU) together with a discussion of the postnatal outcome.Case ReportsThree fetuses having an RAA with an aberrant LSCA were diagnosed prenatally between January 2004 and June 2009. They were all detected at between 20 and 24 weeks by routine ultrasound examination at our hospital. All of them were diagnosed via the 3VT view of the fetal upper mediastinum using ultrasound, which revealed an abnormal U-shaped pattern instead of a normal V-shaped confluence; furthermore, 3D-PDU showed an abnormal RAA and an aberrant LSCA with a vascular ring. These abnormalities were not combined with any other congenital cardiac defects in our three cases. A normal chromosome complement was present without microdeletion of chromosome 22q11.2 in all three cases. Two of the cases were genetically assessed prenatally and the other was assessed postnatally. After delivery, diagnosis was confirmed by echocardiography and three-dimensional 64-slices helical computed tomography angiography. Two of the three fetuses were asymptomatic postnatally, whereas one fetus presented with symptoms of tracheoesophageal compression caused by the vascular ring, but this had improved by 8 months of age.ConclusionThe 3VT view in routine prenatal ultrasound examination is important and essential for the prenatal diagnosis of an RAA with an aberrant LSCA. Moreover, 3D-PDU is able to provide a more clear-cut cardiovascular structure, which helps with the diagnosis.     

Color Doppler flow mapping of fetal heart

Color Doppler flow mapping of fetal heart was performed in 582 fetuses between 16 and 38 weeks of gestation. Congenital heart diseases were excluded in 522 fetuses correctly. In 59 fetuses structural and/or functional cardiac abnormalities were diagnosed. In one fetus small multiple ventricular septal defects were missed. The most important additional information obtained by color Doppler flow mapping was: (1) Diagnosis of insufficiencies of atrioventricular valves; (2) Demonstration of turbulent high velocity jet in stenosis of semilunar valve; (3) Reverse flow in ascending aorta in atresia of aortic valves and on ductus arteriosus and main pulmonary artery in atresia of pulmonary valves; (4) Reverse perfusion of ductus arteriosus and main pulmonary artery as well as an antegrade turbulent high velocity jet in severe pulmonary stenosis as part of tetralogy of Fallot; (5) Bidirectional interventricular shunting of blood in ventricular septal defect. Color Doppler flow mapping allows rapid screening for flow abnormalities of the fetal heart. Exact localisation of sample volume by pulsed wave Doppler in area of abnormal flow pattern is possible, thus significantly reducing the Doppler examination time. The accuracy of prenatal diagnosis of congenital heart diseases is improved by application of color Doppler flow mapping, in particular in presence of complex cardiac defects.     

DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1).

Eleven fetuses at risk for the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1) were studied using DNA markers and the results were compared with the results of electron microscopy (EM) of chorionic villus specimens from pregnancies in the first or early second trimester of pregnancy. In four cases, the prenatal diagnosis was made independently with both methods, and in seven cases, the EM diagnosis was confirmed postnatally or from autopsy material using RFLP analysis. The two methods gave concordant results in all cases. The DNA analysis based on RFLP haplotypes also for the first time facilitates reliable carrier diagnostics. RFLP analysis based on polymorphic markers closely linked to the INCL locus is now available for prenatal diagnosis of this fatal brain disease, whose biochemical background is totally unknown and for which no treatment is available.     

Middle cerebral artery Doppler study in fetuses with homozygous alpha-thalassaemia-1 at 12-13 weeks of gestation.

OBJECTIVE: Fetuses affected by homozygous alpha-thalassaemia-1 are anaemic from the first trimester of pregnancy. We investigated middle cerebral artery Doppler velocimetry in these affected fetuses at 12-13 weeks of gestation to assess its use in predicting fetal anaemia. METHODS: Women referred for the prenatal diagnosis of homozygous alpha-thalassaemia-1 before 14 weeks of gestation were recruited. All fetuses underwent pulsed Doppler examinations following colour flow mapping at 12 or 13 weeks of gestation. Homozygous alpha-thalassaemia-1 was diagnosed by DNA or haemoglobin study. The middle cerebral artery Doppler indices were compared between the affected fetuses and fetuses unaffected by homozygous alpha-thalassaemia-1. RESULTS: Between 1998 and 2000, 80 eligible women were recruited. Of these, 19 fetuses were affected by homozygous alpha-thalassaemia-1. Two of them showed hydropic changes at the time of Doppler study. The affected fetuses had significantly higher middle cerebral artery peak systolic velocity (V(max)) (36% increase) and time-averaged maximum velocity (V(tamx)) (33% increase). CONCLUSION: The increase of cerebral blood flow in affected fetuses is consistent with our previous finding of an increased forward flow in the ductus venosus, cardiac dilatation and an increase of cardiac output to preferentially shunt more oxygenated blood to the brain as a compensatory mechanism. However, extensive overlap of the middle cerebral artery flow velocity values between affected and unaffected fetuses precludes its use in predicting anaemia at 12-13 weeks' gestation.     

产前超声诊断双胎反向动脉灌注综合征

目的 探讨多普勒超声在产前诊断双胎反向动脉灌注综合征(TRAP)中的临床价值,提高对此类罕见畸形的认识. 方法 我院1995年1月至2008年9月产前超声诊断及疑似诊断19例TRAP,比较超声与生后随访或引产后病理结果. 结果 19例TRAP中,无心畸胎(受血儿)均有严重结构畸形,产前超声对胎儿皮肤水肿、脊柱、腹腔结构及下肢显示准确性高;但对头颅发育不良及特别短小的上肢显示困难,颜面部畸形基本上显示不清.泵血儿(供血胎)中死胎及死产16例,存活3例;心功能不全9例.胎儿附属结构特征:(1)存活的无心畸胎均为脐动脉供血,血流方向朝向胎儿体内,与正常胎儿脐动脉血流方向相反;(2)两胎儿脐带胎盘附着处可见大的血管相交通;(3)无心畸胎多为单脐动脉;(4)羊水过多为预后不良征象;(5)单羊膜囊双胎常发生脐带缠绕及打结. 结论 多普勒超声可为评价TRAP血流动力学特征、评估泵血儿心功能、附属物异常及预后提供重要信息,为产前诊断TRAP的首选和重要的诊断方法.     

产前超声诊断双胎反向动脉灌注综合征

目的 探讨多普勒超声在产前诊断双胎反向动脉灌注综合征(TRAP)中的临床价值,提高对此类罕见畸形的认识. 方法 我院1995年1月至2008年9月产前超声诊断及疑似诊断19例TRAP,比较超声与生后随访或引产后病理结果. 结果 19例TRAP中,无心畸胎(受血儿)均有严重结构畸形,产前超声对胎儿皮肤水肿、脊柱、腹腔结构及下肢显示准确性高;但对头颅发育不良及特别短小的上肢显示困难,颜面部畸形基本上显示不清.泵血儿(供血胎)中死胎及死产16例,存活3例;心功能不全9例.胎儿附属结构特征:(1)存活的无心畸胎均为脐动脉供血,血流方向朝向胎儿体内,与正常胎儿脐动脉血流方向相反;(2)两胎儿脐带胎盘附着处可见大的血管相交通;(3)无心畸胎多为单脐动脉;(4)羊水过多为预后不良征象;(5)单羊膜囊双胎常发生脐带缠绕及打结. 结论 多普勒超声可为评价TRAP血流动力学特征、评估泵血儿心功能、附属物异常及预后提供重要信息,为产前诊断TRAP的首选和重要的诊断方法.     

Prenatal diagnosis and outcome of lymphangiomas and its relationship with fetal chromosomal abnormalities

Objectives: Our aim was to evaluate ultrasound findings and perinatal outcome after prenatal diagnosis of lymphangioma.

Methods: This was a retrospective case series study. We searched the archives of our ultrasound database at our center for cases with the prenatal diagnosis of the lymphangioma in the period between January 2008 and November 2014. We described maternal, fetal and perinatal variables for all cases.

Results: Nine fetuses with lymphangioma were identified. All cases were diagnosed during the second and third trimesters with the average gestational age of 22.6?±?3.9 weeks. The average diameter of lymphangioma was 55.4?±?20.1?mm at the time of diagnosis. Five fetuses (55.6%) had lymphangioma on the neck, and four fetuses (44.4%) had lymphangioma on other localizations. Normal fetal karyotype was detected in all cases. There were a total of six live births, one intrauterine death and two medical terminations of pregnancy following the diagnosis of lymphangioma. No abnormal Doppler finding or hydrops were detected in the antenatal follow-up of remaining six cases.

Conclusion: The risk of chromosomal abnormalities is very low in pregnancies with isolated lymphangioma. The outcome of pregnancies with lymphangioma is generally favorable and prognosis depends on their locations and size.     

Ranged-gated pulsed Doppler of the umbilical artery in human fetuses during normal pregnancies.

Range-gated pulsed Doppler has permitted the study of umbilical artery flow velocity waveforms (FVWs) in human fetuses and is becoming part of the antepartum fetal evaluation. No uniform method of describing such velocity waveforms and no significant body of normal values using pulsed Doppler can be found in the literature. The present study reports on a cohort of 268 patients who had pulsed Doppler umbilical artery FVWs performed during their pregnancy. The gestational age at the time of the study ranged between 16th and 42nd weeks of gestation in normal pregnancies. The systolic to diastolic (S/D) ratio was found progressively to decrease as gestation advanced; however, the range of normal values in this study was found to be quite large at all gestational ages. The present data represent normative data of the umbilical artery FVWs S/D ratio in a large number of normal pregnancies as shown by the follow-up of all the patients to delivery. Before umbilical artery waveform becomes part of the antenatal armamentarium, we advise caution before adopting rigid values that are derived from small groups. Lack of standard values for the 95th percentile may result in a premature delivery of an otherwise normal fetus.     

Investigation of placental circulations by color Doppler ultrasonography

The placental circulations of 25 normal and five complicated pregnancies were studied by color Doppler ultrasonography. Flow velocity waveforms were obtained in all 30 pregnancies and could discriminate between fetal and maternal intraplacental blood flow. We believe that color Doppler ultrasonography will improve our understanding of the pathophysiology of various pregnancy disorders that alter the placental circulations and that color ultrasonography is useful for the prenatal differential diagnosis of intrauterine masses.     

Doppler assessment of umbilical artery blood flow for the prediction of outcome in fetal cardiac abnormality

In a series of 244 pregnancies referred for fetal echocardiography, the umbilical artery waveform was also studied by pulsed Doppler ultrasound. In 152 normal pregnancies diastolic flow in the umbilical artery was always detectable after 20 weeks gestation. In 4 of 58 normal patients examined before 20 weeks, diastolic flow was absent in some part of the recording. In 34 fetuses with congenital heart disease detected at between 18 and 37 weeks gestation, 10 were found consistently to have associated absent diastolic flow. Five of these fetuses died in utero between 5 and 21 days after the recording; three were aborted and the remaining two died in the neonatal period at 4 and 7 days after the examination. Fetal congenital heart disease with normal umbilical blood flow also had a poor prognosis in general, but the adverse outcome was much less immediate than in fetuses with absent diastolic flow. No correlation was found between the type of congenital heart disease and the characteristics of the umbilical artery waveform. Absent diastolic flow in the umbilical artery indicates a poor short-term prognosis for fetuses with congenital heart disease, particularly after 20 weeks, when fetal death is predictable.     

Doppler assessment of umbilical artery blood flow for the prediction of outcome in fetal cardiac abnormality

Summary. In a series of 244 pregnancies referred for fetal echocar-diography, the umbilical artery waveform was also studied by pulsed Doppler ultrasound. In 152 normal pregnancies diastolic flow in the umbilical artery was always detectable after 20 weeks gestation. In 4 of 58 normal patients examined before 20 weeks, diastolic flow was absent in some part of the recording. In 34 fetuses with congenital heart disease detected at between 18 and 37 weeks gestation, 10 were found consistently to have associated absent diastolic flow. Five of these fetuses died in utero between 5 and 21 days after the recording; three were aborted and the remaining two died in the neonatal period at 4 and 7 days after the examination. Fetal congenital heart disease with normal umbilical blood flow also had a poor prognosis in general, but the adverse outcome was much less immediate than in fetuses with absent diastolic flow. No correlation was found between the type of congenital heart disease and the characteristics of the umbilical artery waveform. Absent diastolic flow in the umbilical artery indicates a poor short-term prognosis for fetuses with congenital heart disease, particularly after 20 weeks, when fetal death is predictable.     

Umbilical artery pulsatility index in early pregnancies with chromosome anomalies

Objective The aim of our study was to obtain measurements of the umbilical artery pulsatility index in pregnancies before invasive procedures for prenatal diagnosis, to investigate its potential prognostic value in predicting chromosomal abnormalities.
Design A prospective study.
Participants Nine hundred and twenty-four consecutive women with singleton pregnancies between 10 and 18 weeks of gestation who underwent chorionic villus sampling (   n = 385  ) or genetic amniocentesis (   n = 539  ). All Doppler measurements were obtained by a single investigator before the invasive procedure. Pregnancies where structural malformations were detected by ultrasound were excluded.
Results Twenty-six fetuses with chromosomal anomaly, including 12 with trisomy 21, were diagnosed. Using the 90th centile in umbilical artery pulsatility index values as a cut-off for trisomy 21 the detection rate was 66.6%, with a specificity of 90.4% and a positive predictive value (defined as the proportion of unaffected individuals with positive results, 1-specificity) of 8.8%. However, with this cut-off the false positive rate was 9.6%. All 19 chromosomally normal pregnancies in which a fetal loss occurred after the procedure had a normal umbilical artery pulsatility index before it was carried out.
Conclusions These preliminary data suggest that trisomic fetuses have an abnormally increased umbilical artery pulsatility index in early pregnancy. Because the number of cases is too small to draw any firm conclusions, the use of a single measurement for screening purposes needs to be confirmed by further investigation and the clinical significance of reference curves of normal values in the detection of pathological conditions has still to be determined. The potential of umbilical artery pulsatility index as an additional parameter along with others previously established for Down's syndrome screening, such as nuchal oedema, needs to be explored further.     

Disorders of laterality and heterotaxy in the foetus

Disorders of laterality and heterotaxy syndromes are rare diseases with an incidence of 1-1.5/10,000 live births. They are associated with numerous viscerocardiac anomalies and malformations. In particular, heterotaxy syndromes are associated with complex cardiac and extracardiac malformations that have an important impact on the prenatal and postnatal course. A prenatal differentiation between the 2 main variants of heterotaxy--left and right isomerism--is possible by assessment of cardiac rhythm, anomalies of caval veins and descending aorta and concomittant cardiac and extracardiac anomalies. An exact diagnosis is mandatory for adequate counselling of the parents and planning of postnatal care. Left isomerism has a high intrauterine mortality, caused by early atrioventricular block with subsequent cardiac failure and hydrops. In contrast, right isomerism has a high postnatal mortality due to the more complex type of cardiac defects and splenic disorders. The type of associated cardiac and extracardiac anomalies determines the postnatal morbidity and mortality. Polysplenia and asplenia may be associated with immunological disorders, that cannot be ruled out in the prenatal period, and further complicate the postnatal course.     

胎儿心律失常的超声心动图检测及其临床意义

目的 探讨超声心动图检测对胎儿心律失常的诊断价值及临床意义。方法 采用超声心动图对725例胎龄16-41周临床疑诊为心律失常或存在其他异常的胎儿进行检测。结果 共检出胎儿心律失常90例。其中,期前收缩72例(房性期前收缩65例,室性期前收缩7例),心动过缓9例,心动过速6例,2:1房室传导阻滞2例,心房扑动1例。4例心动过缓胎儿并发先天性心血管畸形患者,2例在随访过程中死于宫内(尸体解剖证实为单心室伴肺动脉瓣狭窄1例,心脏横纹肌瘤1例),2例终止妊娠(尸体解剖证实为二尖瓣闭锁1例,共同房室通道1例)。1例胎龄38周心房扑动胎儿经吸氧及严密监护24h后,心律失常无缓解,立即行剖宫产术,出生后应用西地兰后心律转为窦性。其余85例胎儿心律失常均为阵发性,不伴有胎儿心脏形态、结构畸形及胎儿水肿,均足月出生,出生后听诊均未闻及心脏杂音及心律失常。结论 胎儿超声心动图是产前检查胎儿心律失常的可靠的无创性影像技术,其应用有助于早期检出并指导心律失常胎儿的处理。     

Placental microcirculation of intrauterine growth retarded fetuses: scanning electron microscopy of placental vascular casts

Aim The aim of this study is to investigate the ultra structural difference of placentas in IUGR fetuses that were all found to have abnormal umbilical artery Doppler waveforms.Methods Nine placentas from 7 IUGR fetuses and 2 from healthy normal fetuses were evaluated by scanning electron microscopy.Results All of the placentas of IUGR fetuses who had abnormal umbilical artery Doppler flow antenatally were found to have a prominent increase in the amount of total blood vessels; these aberrant blood vessels had a very tortuous course and they showed increased branching when compared with placentas from uncomplicated term pregnancies.Conclusions Our study showed that there is a clear difference in vascular ultra structure of the placentas of pregnancies with fetal growth restriction selected by abnormal umbilical artery Doppler flow test. IUGR seems to be a problem due to placental vascular insufficiency.     

Outcome for fetuses with prenatally detected congenital heart disease and cardiac arrhythmias in Taiwan.

BACKGROUND/PURPOSE: Outcome for fetuses with prenatally detected congenital heart disease (CHD) and/or cardiac arrhythmias is important for prenatal counseling and perinatal management; however, there exists little literature regarding the outcome for CHD diagnosed in utero in Taiwan. Therefore, we attempted to investigate the outcome for fetuses with CHD and/or cardiac arrhythmias diagnosed prenatally at a tertiary care medical center in Taiwan. METHODS: Between January 1995 and December 2000, 339 patients referred to the National Taiwan University Hospital for fetal echocardiography were included in this study. Medical records were reviewed retrospectively to determine the salient clinical characteristics for all fetuses. RESULTS: CHD was found in 103 fetuses. Gestational age at diagnosis ranged from 17 to 40 weeks; in 37 cases (35.9%) the diagnosis was made before 24 weeks. Mean gestational age at diagnosis was 27.8 weeks. Of the 103 cases, 15 fetuses (14.6%) had major extra cardiac malformations and 15 fetuses (14.6%) had chromosomal abnormalities (five had both) and 30 pregnancies (29.1%) were terminated. Of the remaining 73 pregnancies, three (4.1%) of the fetuses died in utero and 28 (38.4%) postnatally, with 42 (57.5%) surviving. The mortality rates were both 60% in cases with extracardiac or chromosomal anomalies. Arrhythmias were identified in 25, and two pregnancies involving hydrops fetalis were terminated. Of the remaining 23 continued pregnancies, two (8.7%) with long QT syndrome expired postnatally. CONCLUSION: Outcome for fetuses with prenatally detected CHD remains poor, with the prognosis negatively influenced by the presence of complex heart defects as well as extracardiac and chromosomal anomalies. However, prognosis is good for fetuses with cardiac arrhythmia, except with long QT syndrome or hydrops fetalis.     

Fetal echocardiography. I: Methods, limitations and indications

The prenatal detection of congenital heart disease is rather seldom, compared with other fetal malformations. The paper considers the necessity of the development of fetal echocardiography and presents therefore an introduction for the prenatal sonographer. The fetal cardiac characteristics are first analysed, before considering the possibilities and frontiers of the investigation. The different available sonographic methods like the real-time, M-mode, pulsed Doppler and color Doppler are discussed and the importance of each one is emphasized. The indications for fetal echocardiography are further enumerated, as well as the possible consequences resulting from the diagnosis of a heart abnormality. Because of the sophisticated ultrasound devices needed for a precise diagnosis as well as the optimal postnatal care, suspected fetuses have to be referred to centers specialised in perinatal medicine.