胎儿先天性肺囊性腺瘤样畸形35例临床分析

目的探讨胎儿先天性肺囊性腺瘤样畸形(CCAM)的临床特点和预后。方法回顾性分析2004年2月至2009年7月在复旦大学附属妇产科医院经产前超声诊断为CCAM的35例胎儿的临床资料。超声监测CCAM病灶大小及并发症的变化。结果超声检查提示:Ⅰ型15例,Ⅱ型11例,Ⅲ型8例,Ⅰ型合并Ⅲ型1例。14例合并纵隔或心脏移位,3例合并羊水过多,3例合并颈部透明带增厚,1例合并脑积水,2例合并胎儿生长受限,1例合并胎儿腹水和水肿,1例合并羊水过多和消化道畸形。7例行羊水穿刺染色体检查,未发现异常核型。8例诊断后失访。27例随访病例中,1例伴有水肿和腹水的胎儿孕29周胎死宫内,11例孕妇终止妊娠,15例胎儿分娩。15例婴儿中,6例妊娠期间病灶消失,4例产后病灶消失,2例未消失,3例暂未随访。产后15例婴幼儿身体健康。结论胎儿水肿和腹水是胎儿预后不良的因素。如果胎儿未出现水肿、腹水,未合并其他畸形,胎儿CCAM预后良好,可继续妊娠。     

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.     

Prenatal diagnosis and management of congenital heart disease

Thirty-two fetuses were diagnosed as having congenital heart disease (CHD). The major indications for level II echocardiography other than suspected cardiac abnormalities were fetal malformations, nonimmune hydrops and cardiac arrhythmia. Only three patients had a previous history of fetal CHD. No false-abnormal diagnosis of severe CHD was made. Aortic arch anomalies represented the major diagnostic problem among the six correct but incomplete diagnoses. Sixty-one percent of the fetuses were growth retarded, thus confirming the severity of their CHD. Chromosomal anomalies and extracardiac malformations were associated in 19% and 44% of the fetuses, respectively. Obstetric management and fetal prognosis in cases of extracardiac malformations were greatly influenced by the diagnosis of CHD. The poorest perinatal outcome was associated with heart failure. The only intrauterine deaths occurred in that group, and only one neonate survived. The outcome was more favorable in neonates without other malformations or heart failure. Four of ten (40%) of those neonates survived, while the overall perinatal survival rate was 24%.     

Características prenatales del síndrome de Turner

AimThe presentation of Turner's syndrome in the fetus is very different from that observed postnatally. The aim of this study was to compare the pre and postnatal features of this syndrome, mainly the nature of the karyotype and the incidence and type of heart defects, and to examine outcome after prenatal diagnosis.Subjects and methodsThirty-nine fetuses with Turner's syndrome were examined echocardiographically between 1990 and 2003. Of these, 34 had a complete monosomy X (87%). In 36/39 fetuses extracardiac abnormalities were observed on ultrasound scan (92%).ResultsThe mean gestational age at echocardiographic examination was 14 weeks. A cardiac defect was detected in 15/39 (39%) fetuses. The most common diagnosis was coarctation of the aorta in 8/39 (21%) fetuses, followed by hypoplastic left heart syndrome in 5/39 (13%) fetuses. The incidence of heart defects was higher in fetuses with an abnormal ductus venosus waveform. Echocardiography was normal in the four fetuses with mosaic karyotype. The pregnancy was terminated in 33/39 (85%) cases and intrauterine death occurred in five cases (13%). There was one survivor with complete monosomy X and without gross structural abnormalities.ConclusionsMost fetuses with prenatally diagnosed Turner's syndrome have a complete monosomy X and in almost all there are abnormalities on ultrasound scan that lead to diagnosis. Compared with postnatal series, heart defects are more frequent and severe in these fetuses. All these features explain the poor prognosis associated with prenatal diagnosis of this chromosomal disorder. Fetal echocardiography allows accurate diagnosis of most heart defects. The probability of cardiac disease increases when an abnormal ductus venosus waveform is found.     

"胎儿心脏筛查指南"在产前超声筛查胎儿先天性心脏病中的应用价值

目的 探讨2006年国际妇产科超声协会公布的"胎儿心脏筛查指南"在产前超声筛查胎儿先天性心脏病中的应用价值.方法 2006年9月-2007年7月在南京大学医学院附属鼓楼医院母胎医学中心接受胎儿超声筛查的单胎孕妇5000例.平均年龄28岁(18～48岁),平均孕周27周(妊娠18～40周).以"胎儿心脏筛查指南"为标准对胎儿四腔心和左、右心事流出道及三血管切面进行扫查,对疑有心脏异常者进一步行胎儿超声心动图枪查,对确诊先天性心脏病胎儿建议羊水或脐血穿刺行染色体核型分析,终止妊娠者行胎儿尸体心脏解剖;继续妊娠者,于胎儿出生后2～6个月行超声心动图随访.结果 (1)超声筛查各切面获取率:5000例单胎孕妇中,四腔心切面获取率为97.64%(4882/5000),其中左、右心室流出道及三血管切面的获取率分别为87.69%(4281/4882)、82.51%(4028/4882)和96.29%(4701/4882).5000例孕妇中,孕中期筛查2750例,孕晚期筛查2250例,孕晚期各标准切面的获取率明显低于孕中期(P<0.05).(2)胎儿先天性心脏病发病率:4882例胎儿中最终诊断先大性心脏病73例,发病率为1.50%(73/4882),其中产前超声确诊50例(孕中期24例、孕晚期26例).超声漏诊23例,误诊1例,合并其他器官畸形18例.(3)随访结局:产前诊断为先天性心脏病的胎儿中接受尸体心脏解剖19例,均与产前超声诊断结果一致;继续妊娠者胎儿出生后接受超声心动图检查12例,其中与产前诊断符合11例,另1例产前诊断三尖瓣关闭不全,产后超声检查正常.接受染色体检查23例,染色体核型异常7例.(4)产前超声筛查的敏感性与特异性:四腔心切面确诊先天性心脏病胎儿28例,同时加入左、右心室流出道及三血管切面共诊断先天性心脏病50例,诊断的敏感性为69%(50/73)、特异性为99.98%(4808/4809),假阴性率为0.48%(23/4831),假阳性率为2%(1/51).结论 国际妇产科超声协会2006年公布的"胎儿心脏筛查指南"临床实用、易于遵循、便于操作.就最佳超声切面获得来说,孕中期(18～27周)是最佳筛查时间.胎儿四腔心和左、右心窒流出道及三血管切面同时筛查,可产前诊断69%的先天性心脏病胎儿.     

Antenatal detection of cystic hygroma

Ultrasonographic evaluation, as a routine component of prenatal care, has significantly contributed to in utero assessment of pregnancy status. The detection of fetal abnormalities by ultrasound, however, has raised clinical questions and created parental dilemmas concerning the outcomes of such pregnancies. A relatively frequent anomaly observed on routine ultrasonographic examination is the posterior nuchal cystic hygroma. We report the prenatal detection of 16 cases of cystic hygromata and an analysis of a survey of the world's literature including an additional 155 cases. The information available from these 171 cases allows a clearer picture of the prognosis for fetuses in whom posterior cystic hygroma is detected in utero. Regarding outcome, 73.2 per cent of cases were terminated at the parents' request; 37 cases (22.6 per cent) resulted in fetal death in utero prior to any intervention. Only 7 per cent of continuing pregnancies resulted in live-born infants. Of the 142 cases with available cytogenetic findings, 22 per cent had normal karyotypes; 58 per cent had a karyotype associated with Turner syndrome phenotype; while autosomal trisomies and various structural abnormalities made up the remaining 20 per cent. Even among those fetuses with normal chromosomes, various physical anomalies were detected. Fetal hydrops was present in 66 per cent of the 102 cases with pertinent information. For those fetuses demonstrating cystic hygroma and normal karyotypes, Mendelian syndromes must be considered in the differential diagnosis. Alpha-fetoprotein evaluation of both maternal serum and amniotic fluid was not helpful in determining prognosis of these fetuses. The ultrasonographic finding of a posterior nuchal cystic hygroma, with or without accompanying fetal hydrops, is a valid indicator for a poor outcome of such pregnancies.     

Prenatal control of Hb Bart’s hydrops fetalis: a two-year experience at a mainland Chinese hospital

α-Thalassemia is a common inherited disease in southern China. The severest form is Hb Bart’s hydrops fetalis, in which the affected fetuses almost always die in utero or shortly after birth, and the mothers are at high risk for severe morbidity. Therefore, this condition should be controlled, especially prenatally. In this study, we reported on a two-year experience in prenatal control of Hb Bart’s hydrops fetalis at a mainland Chinese hospital. Totally, 573 pregnancies at risk for Hb Bart’s hydrops fetalis were referred and different prenatal procedures were offered depending on the gestational age at presentation. One hundred fifty-two affected fetuses were diagnosed prenatally; among these, only half presented in early gestation, and were terminated in time. Although our prenatal program has successfully prevented the birth of children with severe thalassemia, it does not show a satisfactory outcome, considering the gestational age when an affected pregnancy is terminated.     

Fetal cardiac malposition: incidence and outcome of associated cardiac and extracardiac malformations

Cardiac malposition is a rare but important finding when detected on fetal ultrasound. The purpose of this study was to evaluate the incidence of fetal cardiac malposition, associated abnormalities, and clinical outcome in a tertiary-care medical center. Records of fetuses (1993 to 2006) with dextroposition, dextrocardia, mesocardia, ectopia cordis, or heterotaxy were reviewed. The presence of congenital heart disease (CHD), extracardiac anomalies, and outcome were noted. Cardiac malposition was present in 101 fetuses among a total of 3313 (3%) pregnancies. In 78 (78%) patients, the heart was positioned in the right hemithorax. Of those, 26 (33%) had dextrocardia (CHD = 21), and 52 (67%) had dextroposition (CHD = 14). Sixteen (16%) patients had mesocardia (CHD = 8), and 7 (7%) had ectopia cordis (CHD = 6). The majority (58%) of fetal cardiac malposition was caused by intrathoracic masses. Concomitant CHD occurred in 50%. Outcome was available in 97%. The perinatal and neonatal mortality rate was 30%; the elective termination rate was 4%. Patients with CHD had higher mortality rates. The highest mortality rates occurred in ectopia cordis and combined disease of diaphragmatic hernia and CHD.     

Nuchal translucency measurement and congenital heart defects: modest association in low-risk pregnancies

OBJECTIVE: To assess the performance of nuchal translucency (NT) measurement in the first trimester of pregnancy as a marker for congenital heart defects (CHD) in the fetus in a low-risk obstetric population. METHODS: Nuchal translucency screening was offered over a 3-year period to consecutive pregnant women without known a priori risk factors and attending midwife practices in three different areas in the Netherlands. In chromosomally normal fetuses and infants from the study population the NT measurements were matched with CHD detected either prenatally or postnatally. RESULTS: NT screening was offered to 6132 women with an uptake of 83%. A total of 4876 NT measurements was performed. Pregnancy outcome data were available in 4181 cases (86%). Defects of the heart and great arteries (CHD) were diagnosed in 24 cases (prevalence 5.8/1000). Thirteen of these were classified as major (prevalence 3.1/1000). Two major CHD occurred in fetuses showing an increased NT at the first-trimester scan. The sensitivity of NT measurement > 95th and > 99th percentile for all CHD and for major CHD, was 8% and 15%, respectively. The positive likelihood ratios of NT > 95(th) and > 99th percentile for major CHD were 6, 5 and 33, respectively. CONCLUSION: In pregnancies without known risk factors also, an increased NT is associated with major cardiac defects in the fetus and therefore represents an indication for specialized fetal echocardiography. However, this association is too weak to envisage a role for NT measurement as single screening strategy for the prenatal detection of cardiac defects.     

A cardiovascular profile score in the surveillance of fetal hydrops.

OBJECTIVE: To assess the value of a cardiovascular profile score in the surveillance of fetal hydrops. METHODS: In a retrospective study, 102 hydropic fetuses were examined between 15 and 37 completed weeks of gestation with ultrasonographic assessment of hydrops, heart size, and cardiac function, and arterial umbilical and venous Doppler sonography of the ductus venosus (DV) and the umbilical vein (UV). A cardiovascular profile score (CVPS) was constructed by attributing 2 points for normal and taking away 1 or 2 points for abnormal findings in each category. The score of the final examination prior to treatment, delivery, or fetal demise was compared to the fetal outcome in these 102 fetuses after exclusion of terminated pregnancies. The scores of the first and last examinations were compared in 40 fetuses and the relationship between these scores and the evolution of fetal hydrops and fetal outcome was assessed. RESULTS: Twenty-one pregnancies were terminated (21%). Fifty-four of the remaining 81 hydropic fetuses survived (67%) and perinatal death (PNM) occurred in 27 fetuses (33%). The median CVPS was 6.0 (IQR 4.75-8.00) for all fetuses, with a median of 6.0 (IQR 5.00-6.00) in fetuses who died in the perinatal period compared to a median of 7.0 (IQR 4.00-8.00) in those who survived (p < 0.035). All fetuses in this study had a 'severe' form of hydrops with skin edema. The best predictor for adverse outcome was the venous Doppler sonography of UV and DV, in particular umbilical venous pulsations. Among fetuses included in the longitudinal arm of the study, the survival rate was 40% and the PNM was 60%, after exclusion of terminated pregnancies. CVPS increased by a median of 1 (IQR 0.00-2.00) point in the last exam for those fetuses that lived, whereas among those fetuses that died, the CVPS decreased by a median 1.5 (IQR 0.25-2.75) points (p < 0.001). CONCLUSIONS: The fetal cardiovascular profile score can be used in the surveillance of hydropic fetuses for prediction of the presence of congestive heart failure and as an aid for predicting fetal outcome.     

Perinatal management and outcome of prenatally diagnosed congenital diaphragmatic hernia: a 1995-2000 series in Rennes University Hospital

OBJECTIVES: To assess the prognosis of prenatally diagnosed congenital diaphragmatic hernia (CDH) during the years 1995-2000 in order to improve prenatal counselling. METHODS: Retrospective study of all 31 cases of women with prenatally diagnosed CDH. RESULTS: Nine pregnancies (29%) were terminated and two fetuses (6%) were stillborn. Ten fetuses (32%) had associated anomalies (four Fryns' syndrome) and four (13%) had underlying chromosomal anomalies. Twenty pregnancies were continued. Seven babies died before surgery either immediately in the delivery room (five between 1 and 45 min), or during the 'stabilisation period' (two babies, 7 and 21 h). Three babies presented with trisomy 18, Fryns' syndrome or transposition of the great arteries with microdeletion 22q11. Thirteen babies had the defect repaired (median 18 h, range 4-72 h) and 12 survived. Mechanical ventilation was required for a median of 12 days. One survivor has cerebral palsy. CONCLUSION: Of 31 prenatally diagnosed CDH cases 38% are alive, of 20 ongoing pregnancies 60% are alive, and of 13 babies who underwent surgery 92% are alive. No baby with associated malformations survived. These numbers need to be known by each member of the counselling team in order to give parents adequate information to make their decision.     

First-trimester prenatal diagnosis of severe alpha-thalassemia

By means of chorion biopsy together with restriction endonuclease analysis of fetal DNA, first trimester diagnoses were successfully made in 33 fetuses at risk for Bart's hydrops fetalis. Seven pregnancies with Hb H or hydrops fetalis were therapeutically terminated before 4 1/2 months of gestation. Of the 26 pregnancies intended to continue, 18 have come to term with normal deliveries; one with threatened abortion was terminated at the end of the first trimester and, seven are progressing normally.     

Prenatal persistent left superior vena cava in low population: Not a benign vascular anomaly

ObjectiveThe aim of this study is to identify prenatally diagnosed cases of persistent left superior vena cava (PLSVC) in our clinic, to evaluate the associated structural and chromosomal results, and to review their outcome.Materials and MethodsDuring a four-year period, patients with fetal PLSVC were detected by echocardiography. We reviewed medical records of these affected pregnancies, including maternal demographics, sonographic findings, chromosomal microarray results and pregnancy outcomes.ResultsThere were a total of 140 cases of fetal PLSVC. Eighty-nine fetuses (63.6%) had associated structural anomalies, while the remaining 51 fetuses (36.3%) had PLSVC as an isolated finding. In the non-isolated cases, cardiac anomalies were present in 72 fetuses (80.9%), and extracardiac abnormalities in 45 fetuses (50.6%). Among the 89 cases with non-isolated PLSVC, 12 cases had chromosomal abnormalities including 5 cases of aneuploidies. Among the 51 cases with isolated PLSVC, one pregnancy of chromosomal microduplication was detected.ConclusionIsolated PLSVC is a benign vascular anomaly in low risk population. However, the information about background risk of identifying an abnormal clinically significant CMA result should be conveyed to all pregnant women when they consults this vascular variation.     

Prenatal diagnosis of congenital heart disease in the Naples area during the years 1994-1999 -- the experience of a joint fetal-pediatric cardiology unit

OBJECTIVES: To analyse the spectrum and frequencies of observed malformations; to evaluate associated extracardiac and chromosomal anomalies and outcomes in each diagnostic category; to demonstrate the need for a multidisciplinary approach to the diagnosis of CHD in the fetus. METHODS: From January 1994 to December 1999, 450 cases of CHD were detected among 4052 pregnancies at risk of fetal CHD seen at our combined unit. Confirmation of the diagnosis was not available in 50 cases, leaving 400 cases for analysis. From our computerized database, the following variables were retrieved and analysed: indication, gestational age at diagnosis, associated extracardiac anomalies, karyotype, natural history, pregnancy and feto-neonatal outcome. RESULTS: CHDs most commonly detected were VSD (75 cases), AVSD (40 cases) and HLH (37 cases). The aneuploidy rate was 29.3% in the 355 cases submitted for karyotyping (25.9% in the whole series), with a prevalence of trisomy 21 and 18 (48 and 30 cases, respectively). The aneuploidy rate was highest for AVSD (80%), coarctation (49%), tetralogy of Fallot and VSD (45%). Associated extracardiac anomalies were present in 29.5% of the cases (118/400). As for pregnancy outcome, there were 150 (37.5%) terminations of pregnancy, 16 (4%) intrauterine fetal deaths and 85 (21.3%) neonatal deaths. The remaining 149 neonates are alive (37.3% survival rate). The termination rate for pregnancies in which CHD was detected at a gestational age <25 weeks was 65.2%. Evolutive changes determined progressive prognostic deterioration in 21 cases (5%), consisting of semilunar valve obstructions and development of ventricular hypoplasia. CONCLUSIONS: The high association rate with extracardiac and chromosomal anomalies (29.3% and 25.9%) and the possible progressive prognostic deterioration require a multidisciplinary team for correct management and follow-up. Survival of fetuses with certain CHD is severely reduced, in comparison with postnatal figures, for the common association with aneuploidies.     

Conduction system disease in fetuses evaluated for irregular cardiac rhythm

OBJECTIVES: To determine the prevalence of 1st and 2nd degree AV block in fetuses with an irregular cardiac rhythm, and to summarize outcome of these pregnancies. Background: The diagnosis of irregular cardiac rhythm or 'skipped beats' includes isolated ectopy that resolves spontaneously. Recently, Doppler measurements of the 'mechanical' PR interval have been shown to identify AV conduction disease prenatally. Prenatal therapy of these conduction abnormalities may limit the progression to more advanced disease either in utero or after birth. METHODS: A retrospective review was performed of fetuses evaluated between 1996 and 2004 with the findings of irregular cardiac rhythm. 1st or 2nd degree AV block was diagnosed on Doppler and M-mode recordings, and confirmed using either fetal magnetocardiography (fMCG) or postnatal 12-lead ECG. Dexamethasone was administered to 4 mothers with abnormal fetal AV conduction in the setting of anti-Ro/anti-La antibodies. RESULTS: Of 702 fetuses initially referred for arrhythmia, 306 had an irregular rhythm. Eight (2.6%) had intermittent 1st or 2nd degree AV block confirmed by fMCG and/or postnatal 12-lead ECG. AV block was presumed idiopathic in 2, associated with congenital long QT syndrome in 2 or with clinically unsuspected maternal anti-Ro or anti-La antibodies in 4. During the intrauterine period there was no progression to complete AV block and all were born alive at 34-40 weeks of gestation. CONCLUSION: A small but clinically significant population of fetuses with irregular rhythm will have 1st or 2nd degree AV block. Transplacental therapy may limit the intrauterine progression to more advanced disease.     

A cardiovascular profile score in the surveillance of fetal hydrops

Objective.?To assess the value of a cardiovascular profile score in the surveillance of fetal hydrops.

Methods.?In a retrospective study, 102 hydropic fetuses were examined between 15 and 37 completed weeks of gestation with ultrasonographic assessment of hydrops, heart size, and cardiac function, and arterial umbilical and venous Doppler sonography of the ductus venosus (DV) and the umbilical vein (UV). A cardiovascular profile score (CVPS) was constructed by attributing 2 points for normal and taking away 1 or 2 points for abnormal findings in each category. The score of the final examination prior to treatment, delivery, or fetal demise was compared to the fetal outcome in these 102 fetuses after exclusion of terminated pregnancies. The scores of the first and last examinations were compared in 40 fetuses and the relationship between these scores and the evolution of fetal hydrops and fetal outcome was assessed.

Results.?Twenty-one pregnancies were terminated (21%). Fifty-four of the remaining 81 hydropic fetuses survived (67%) and perinatal death (PNM) occurred in 27 fetuses (33%). The median CVPS was 6.0 (IQR 4.75–8.00) for all fetuses, with a median of 6.0 (IQR 5.00–6.00) in fetuses who died in the perinatal period compared to a median of 7.0 (IQR 4.00–8.00) in those who survived (p < 0.035). All fetuses in this study had a ‘severe’ form of hydrops with skin edema. The best predictor for adverse outcome was the venous Doppler sonography of UV and DV, in particular umbilical venous pulsations. Among fetuses included in the longitudinal arm of the study, the survival rate was 40% and the PNM was 60%, after exclusion of terminated pregnancies. CVPS increased by a median of 1 (IQR 0.00–2.00) point in the last exam for those fetuses that lived, whereas among those fetuses that died, the CVPS decreased by a median 1.5 (IQR 0.25–2.75) points (p < 0.001).

Conclusions.?The fetal cardiovascular profile score can be used in the surveillance of hydropic fetuses for prediction of the presence of congestive heart failure and as an aid for predicting fetal outcome.     

Aberrant right subclavian artery as a new cardiac sign in second- and third-trimester fetuses with Down syndrome

OBJECTIVE: The right subclavian artery arises normally as the first vessel from the brachiocephalic artery of the aortic arch. An aberrant right subclavian artery arises as a separate vessel from the aortic isthmus and crosses to the right, behind the trachea. This variant is present in <1% of the normal population; however, in subjects with Down syndrome, an incidence between 19% and 36% was reported. The purpose of this study was to assess the possibility of the detection of an aberrant right subclavian artery in fetuses with Down syndrome. STUDY DESIGN: Fourteen consecutive fetuses with prenatally detected Down syndrome were examined between 18 and 33 weeks of gestation. The presence of an aberrant right subclavian artery was determined by visualization of the transverse 3-vessel trachea view of the upper thorax with color Doppler ultrasonography. RESULTS: The right subclavian artery was visualized in 100% of fetuses (14/14) with Down syndrome. An aberrant right subclavian artery was identified in 35.7% of trisomy 21 fetuses (5/14). In 1 fetus, the aberrant right subclavian artery was the only abnormal ultrasound finding. In 3 fetuses, an aberrant right subclavian artery was associated with an intracardiac echogenic focus plus additional extracardiac markers. In the fourth fetus, an aberrant right subclavian artery was associated with an atrioventricular septal defect. All 9 fetuses with Down syndrome with a normal origin of the right subclavian artery had additional cardiac and/or extracardiac abnormalities. In 12 cases, pregnancy was terminated; 2 fetuses were live born. CONCLUSION: This preliminary study suggests that the in utero identification of an aberrant right subclavian artery may be a new ultrasound marker to be found in fetuses with Down syndrome. Further studies are required to assess the incidence of aberrant right subclavian artery in normal fetuses.     

Ductus venosus blood flow velocity waveforms as a predictor for fetal outcome in isolated congenital heart disease

OBJECTIVE: To investigate whether pulsatility of ductus venosus (DV) flow velocity waveforms is of diagnostic value in predicting survival in fetuses with congenital heart disease (CHD). METHODS: In a cross-sectional study, Doppler investigation of DV and umbilical artery blood flow was performed in 58 fetuses with isolated structural CHD, without other sonographically detectable structural or chromosomal abnormalities or tachyarrhythmia. The pulsatility index for veins of DV (DV-PIV) waveforms was expressed as multiples of the 95th centile (Mo95th) of the reference ranges for gestational age. The PIV was related to intrauterine and neonatal mortality within the first 6 months of life. Terminations of pregnancies and neonates with additional abnormalities detected after birth were excluded from statistical analysis. For statistical analysis, the different types of heart defects were separated into atrial and/or ventricular (AV) septal defects, right or left ventricular in- and outflow tract abnormalities and others. RESULTS: After exclusion of 9 pregnancies (2 cases with failure of measurements of DV-PIV, 2 neonates with additional malformations, and 5 terminations of pregnancies), 49 cases were available for statistical analysis. The umbilical artery pulsatility index was within normal ranges in all but 1 case with AV canal and hydrops. In 7 pregnancies intrauterine fetal deaths occurred and 6 of them were hydropic. The median gestational age at birth for liveborn neonates was 39.0 weeks (range 27.8-41). There were 6 postnatal deaths, all but 1 within 28 days of delivery. The remaining fetuses survived for at least 6 months. The overall mortality rate was 27% (13/49). The DV-PIV was significantly higher in non-survivors than in survivors (median of Mo95th and interquartile ranges 1.48 (1.04-1.95) vs. 0.81 (0.70-1.15); p = 0.01). Analysis of subgroups showed significant differences for AV septal defects and abnormalities affecting predominantly the right ventricle (p = 0.046 and 0.043, respectively). Ten out of 13 non-survivors showed an abnormal DV-PIV (sensitivity 77%) as compared to 12 out of 36 survivors (specificity 67%). All hydropic fetuses (n = 6) showed an abnormal DV-PIV and ended in intrauterine deaths. CONCLUSIONS: Evaluation of the DV pulsatility is a useful additional variable for predicting the risk for mortality in fetuses with isolated structural CHD, in particular in fetuses with defects of the AV septum and with defects affecting predominantly right ventricular function. As there is no fetal hydrops without abnormal DV, this is another sign for the association of DV and cardiac failure.     

Congenital abnormalities at a tertiary center in Jamaica: An 18-month maternal–fetal medicine experience

Objective: The objective of this study was to compare outcomes of patients with prenatally versus postnatally diagnosed congenital abnormalities seen during the first 18 months of a recently established MFM unit. Methods: Hospital charts of all congenital abnormalities diagnosed between July 2008 and December 2009 were reviewed. Data collected included: maternal demographics, perinatal outcome, neonatal mortality and morbidity as defined in the Radius trial. Results: Fifty-five pregnancies with 57 anomalous fetuses were identified: 13 (23%) postnatally and 44 (77%) prenatally. Most frequent postnatally diagnosed anomalies were gastrointestinal (33%), central nervous system (CNS) (16%) and cardiac (16%); whereas prenatally diagnosed were CNS (29%) and genitourinary (23%). Mothers postnatally diagnosed had a 12?kg (17%) greater mean weight; 12 (92%) had anomaly scans reported as normal; birth weight and moderate neonatal morbidity were statistically greater (2.8 vs. 2.13?kg, p?<?0.02) and (9/12 vs. 11/29, p?<?0.03), respectively. Neonatal morbidity was 6.2 times more likely in the postnatally diagnosed group adjusting for birth weight, gestational age and route of delivery [OR (95% CI) 6.2, (1.2–32.4), p?=?0.03]. Conclusions: Most abnormalities were diagnosed prenatally; however, the majority of postnatally diagnosed had false negative anomaly scans and experienced significantly more moderate neonatal morbidity.     

Congenital heart disease and fetal thoracoabdominal anomalies: associations in utero and the importance of cytogenetic analysis.

We examined the frequency with which congenital heart disease (CHD) and cytogenetic abnormalities were found associated with omphalocele, gastroschisis, duodenal atresia and posterior diaphragmatic hernias. We performed fetal echocardiograms on 80 patients with these diagnoses and found congenital heart disease in 13 of 37 with omphalocele (35%), 2 of 17 with gastroschisis (12%), 4 of 15 with duodenal atresia (27%), and 2 of 11 with posterior diaphragmatic hernia (18%). Karyotypes were obtained in 74 and were abnormal in 24 (32%). Although most fetuses with these extracardiac malformations and abnormal karyotypes had associated CHD, many did not. Normal karyotypes were found in 69% of fetuses with CHD and omphalocele, and 50% of fetuses with CHD and duodenal atresia. We conclude that CHD may be present in fetuses with extracardiac malformations whether or not the karyotype is normal and that the prenatal evaluation of fetuses with these lesions should include both karyotype and fetal echocardiography. Although karyotypes play an important role in prenatal diagnosis, they are not predictive of normal cardiac structure when normal in the abnormalities studied. Even when the karyotype is normal in the presence of these abnormalities, fetal echocardiography is indicated.