Outcome after second-trimester amniocentesis and first-trimester chorionic villus sampling for prenatal diagnosis in multiple gestations.

PURPOSE: The purpose of this study was to classify pregnancy loss and fetal loss as well as the influence of maternal risk factors in multiple pregnancies. METHODS AND MATERIALS: Details of the procedure and pregnancy outcome of all patients were extracted from the clinical audit database of two tertiary centers. The files were collected in the time from January 1993 to May 2011.  The procedure-related pregnancy and fetal loss rate was classified as all unplanned abortions without important fetal abnormalities or obstetric complications within 14 days after AC and CVS. RESULTS: We had a total number of 288 multiple pregnancies with a total of 637 fetuses. After the exclusion of 112 pregnancies with abnormal karyotype or fetal abnormalities detected by ultrasound as well as cases of selective feticide, repeated invasive procedures and monochorionic-monoamniotic pregnancies, 176 pregnancies and 380 fetuses were left for final analysis. Overall 132 amniocenteses and 44 chorionic villous sampling procedures were performed. The total pregnancy loss rate was 8.0 % (14/176), 6.1 % (n = 8) for amniocentesis and 13.6 % (n = 6) for CVS.  The procedure-related pregnancy loss rate was 3.4 %, 2.3 % after amniocentesis (3 cases) and 6.8 % after CVS (3 cases). There was no statistical significance between the two procedures (p = 0.15). CONCLUSION: The procedure-related loss rate of 3.4 % can be compared to the rates in the literature. The higher loss rates in multiple pregnancies than in singleton pregnancies have to be discussed when counseling parents.

Skin edema in first trimester fetuses.

PURPOSE: The aim of this study was to prove an association between generalized skin edema and nuchal translucency (NT) thickness and its predictive value for aneuploidy and structural anomalies. MATERIALS AND METHODS: In this retrospective study fetuses with and without skin edema in the first trimester with an NT above 2.2 mm were compared. Statistical significance was calculated with the Chi-square test (p < 0.05). RESULTS: 237 fetuses were included in this study (median NT of 3.0; IQR: 2.5 - 3.9 mm, median CRL 68.8; IQR: 58.9 - 74.9 mm). 17.3 % presented with skin edema. The rate of skin edema was 1.3 % in the group with an NT < 95th percentile, 2.7 % in the group with an NT between the 95th and 99th percentile, 17.5 % with an NT of 3.5 - 4.4 mm, 36.4 % with an NT of 4.5 - 5.4 mm, 54.5 % with an NT of 5.5 - 6.4 mm and 95.5 % with an NT above 6.5 mm. 19 % had chromosomal disorders. The rate of aneuploidy was 61.0 % (25/41) in the group with skin edema which was significantly higher than the rate of 10.2 % (20/196) in those without skin edema (p < 0.0001). 12 % had structural anomalies in euploid fetuses. The rate of anomalies was 43.8 % (7/16) in the group with skin edema and significantly higher compared to 9.1 % (16/176) in those without skin edema (p < 0.0005). CONCLUSION: Our data show a clear association between the thickness of NT and the rate of skin edema. Skin edema has a high predictive value for aneuploidy or structural malformations. Therefore, fetuses with skin edema should have early malformation scans in case of normal karyotype.

Upper abdominal cysts in first trimester fetuses.

Cystic abdominal structures in first trimester fetuses are rare. In order to elucidate the clinical significance of first trimester abdominal cysts, we present three cases of the ultrasonographic detection of upper abdominal cysts in first trimester fetuses with spontaneous regression until birth. Cysts with maximum diameters of 20, 15 and 21 mm were diagnosed in the first scan at 12 + 3 weeks of gestation and two times at 13 + 0 weeks of gestation, respectively. They had echogenic walls, a longish shape and were all located in the upper part of the abdomen. Further anomalies, relevant maternal infections, the most frequent cystic fibrosis mutations and fetal chromosomal abnormalities were excluded. In all three cases follow-up scans showed similar characteristics: The relatively large intraabdominal cyst resolved during the early second trimester. A hyperdense structure of up to 24 mm close to the liver capsule was the sole prenatally detectable remnant. During the first months after birth, development of all three children was normal. Pediatric ultrasound examination reported subcapsular liver calcifications. In conclusion, these cases demonstrate that first trimester upper abdominal cysts with spontaneous resolution until birth are associated with a favorable outcome, if infections and additional anatomical or chromosomal anomalies are ruled out. Nevertheless, one should be aware that postnatal gastrointestinal complications have been described in a few cases, even if the cyst had resolved spontaneously in utero.

Fetal diagnosis of hypoplastic left heart, associations and outcomes in the current era.

PURPOSE: Hypoplastic left heart (HLH) is one of the most common forms of cardiac abnormality detectable during gestation by fetal echocardiography. Antenatal diagnosis allows for appropriate counseling and time to consider treatment options. We report the actual outcome data after fetal diagnosis of HLH. MATERIALS AND METHODS: Retrospective analysis of the outcome in all cases with HLH from 1994 - 2011 presenting in fetal life at two tertiary referral centers for prenatal diagnosis and pediatric cardiology. RESULTS: 105 cases were included and the overall survival is 40.9 % (43/105) after prenatal diagnosis. There was an 81.1 % survival rate in infants undergoing surgery and a 64.1 % survival rate from an intention-to-treat position. Two neonates died due to tamponade and cardiac arrest following balloon septostomy and one neonate from sepsis before surgery. Extracardiac anomalies occurred in three fetuses, and karyotype anomalies in seven fetuses (18.9 %). In 4 of 5 babies born with additional extracradiac or karyotype anomalies, parents opted for compassionate care. The first had trisomy 13, the second had trisomy 18, the third neonate presented with spina bifida, and the fourth presented with hydronephrosis and pulmonary atresia. Termination of pregnancy took place in 17 cases (16.1 %). CONCLUSION: Thorough antenatal evaluation should include karyotyping, detailed extracardiac and intracardiac assessment to accurately predict the risks of surgery. Prenatal counseling might be modified after the exclusion of additional anomalies. These data provide up-to-date information for parental counseling.

Fetal loss rate and associated risk factors after amniocentesis, chorionic villus sampling and fetal blood sampling.

PURPOSE: To assess the total and procedure-related fetal loss rate and associated risk factors following amniocentesis (AC), chorionic villus sampling (CVS) and fetal blood sampling (FBS). MATERIALS AND METHODS: We performed a retrospective analysis of patients with invasive diagnostics from 1993 to 2011 in two tertiary referral centers. We aimed to classify pregnancy loss after an invasive procedure and included the time after the invasive procedure and the result of targeted ultrasound/karyotype analysis in the analysis. Fetal losses occurring within two weeks after an invasive procedure were classified as procedure-related. RESULTS: After excluding 1553 pregnancies with abnormal karyotype, fetal malformations and multiple insertions, 6256 cases were retrieved for final analysis. The total fetal loss rate was 1.5 %. The procedure-related fetal loss rate was 0.4 % for AC, 1.1 % for CVS and 0.4 % for FBS. Maternal vaginal bleeding in the first trimester was significantly associated with an increased procedure-related fetal loss rate (p= 0.008). The number of invasive procedures declined during the study period with increasing numbers of CVS in the first trimester. CONCLUSION: In our population the procedure-related fetal loss rate was 0.4 % after AC and 1.1 % and 0.4 % after CVS and FBS, respectively. Different gestational ages at the time of invasive procedures might account in part for those differences. Vaginal bleeding during the first trimester is associated with increased procedure-related fetal loss. Overall, declining numbers of invasive procedures are the result of changing attitudes toward invasive procedures and more sophisticated noninvasive prenatal screening programs over the last 20 years.

Persistent right umbilical vein: a prenatal condition worth mentioning?

OBJECTIVES: To investigate the incidence and clinical impact of prenatally diagnosed persistent right umbilical vein (PRUV) in a referral population and to evaluate the findings together with those from previous publications. METHODS: This was a retrospective analysis of 39 cases with PRUV diagnosed in three tertiary referral centers for prenatal medicine between 1996 and 2009. Fetuses with situs inversus, situs ambiguous and heterotaxy (left and right isomerism) were excluded. During the study period 46 653 consecutive high- and low-risk pregnancies were examined. The prenatal sonograms and neonatal outcome data of affected individuals were reviewed. Our findings were analyzed together with findings retrieved from the scientific literature. RESULTS: Twenty-nine fetuses had an isolated PRUV as a single anomaly, whereas 10/39 (25.6%) were found to have PRUV accompanied by additional minor and major abnormalities. These anomalies comprised mainly cardiovascular, genitourinary and gastrointestinal malformations. In common with our series, previously published cases of isolated PRUV (n = 197) displayed an uneventful course of pregnancy and a favorable postnatal outcome. Sixty-six previously reported cases of PRUV with additional anomalies were identified in the literature. Intrahepatic umbilical drainage is the most frequent type of PRUV. Including our cases, there were 16 cases (5.3%) with extrahepatic drainage of PRUV, all of which had additional anomalies. CONCLUSIONS: Consistent with previous reports, in the majority of cases (74.8%) PRUV is an isolated finding. While these cases carry an excellent prognosis, PRUV can be associated with severe congenital anomalies, so this finding should prompt detailed prenatal assessment of the fetus.

[Long-term outcome of children with prenatal diagnosed tachyarrhythmia]. / Langzeit-Outcome von Kindern mit pränatal diagnostizierter Tachyarrhythmie.

PURPOSE: The aim of this study was the follow-up of children with a prenatal diagnosis of tachyarrhythmia up to an age of 5 years in order to assess the long-term outcome of these children. MATERIALS AND METHODS: All fetuses diagnosed with prenatal tachyarrhythmia between April 1993 and June 2004 in the Division of Prenatal Medicine, Department of Obstetrics and Gynecology, University Hospital of Schleswig-Holstein, Campus Lübeck were identified and the children's parents and pediatricians were contacted for retrospective data on the children's health. The data from the compulsory examinations (U1-U9) were used for analysis. RESULTS: 49 cases (93%) were enrolled in this study. 23 fetuses had supraventricular tachycardia (SVT), 10 had an atrial flutter (AF) and 16 had paroxysmal supraventricular tachycardia (pSVT). Intrauterine conversion into sinus rhythm was achieved in 41 of 44 treated fetuses (93%). 17 of 48 cases showed tachyarrhythmia postnatally (35%). 15 of these newborns were treated with antiarrhythmic medication between 4 days and 46 months. The follow-up rate in the 3 subgroups ranged from 78-100%. At the time of the U9 examination, 69-100% of the children were healthy. During the examinations there was an increase in motor activity delay and language development delay with a maximum at U5 and U9, respectively. CONCLUSION: Overall, on the basis of the long-term follow-up of 49 children, we could show that prenatal tachyarrhythmia has a good prognosis. Increased motor activity and language development delay are important for patient counseling. Substantial cardiac and extracardiac anomalies are associated with an unfavorable outcome.

Prevalence, characteristics and perinatal outcome of fetal ventriculomegaly in 29,000 pregnancies followed at a single institution.

OBJECTIVE: Our purpose was to assess the impact of prenatally diagnosed ventriculomegaly (VM) on the course of advancing pregnancy and the postnatal outcome of affected fetuses. METHODS: In this retrospective survey 109/28,935 (3.8 per 1,000) singleton pregnancies with abnormal width of the fetal lateral ventricle system diagnosed by antenatal ultrasound examination at the University Hospital of Schleswig-Holstein, Campus Lübeck, were reviewed between 1993 and 2007. Clinical data and pregnancy outcome information were derived from a standardized parental questionnaire or from hospital records. Postnatal follow-up was obtained in >90%. RESULTS: Forty-seven cases with isolated VM (IVM; 43%) and 62 fetuses (57%) with nonisolated VM were diagnosed. In the IVM group 19 cases had mild and 28 fetuses severe VM. Of 62 cases with non-IVM there were 32 with mildly dilated ventricles and 30 had severe enlargements. Chromosomal aberrations were present in 5 fetuses (4.6%) of the non-IVM group. Thirty-four pregnancies (31%) were terminated on parental request (10 IVM/24 non-IVM). The risk of abnormal neurodevelopmental outcome was highest in the presence of associated anomalies (irrespective of the extent of dilatation) and in cases with severe IVM (91 and 68%, respectively). In contrast, 13/14 children with mild IVM showed an age-related normal psychomotor behavior. Fetuses with severe VM had a 2.2- (IVM) to 3.6-fold (non-IVM) elevated risk of progressive dilatations compared to mild VM. In our study the fetuses with asymmetrical bilateral IVM tended to have severe ventricular enlargements more often. CONCLUSIONS: As reported previously we found a positive association between neurodevelopmental delay and the degree of lateral ventricular dilatation. The presence of additional abnormalities is generally a poor prognostic sign and accompanied by a nonfavorable postnatal outcome.

Biometry of the pubovisceral muscle and levator hiatus assessed by three-dimensional ultrasound in females with bladder exstrophy-epispadias complex after functional reconstruction.

OBJECTIVE: The congenital bony and musculoskeletal defect of the pelvis in bladder exstrophy-epispadias complex (BEEC) highly predisposes females to uterine prolapse. There is a paucity of knowledge on the anatomy of the pelvic soft tissue structures following surgery. The aim of this study was to investigate with transperineal three-dimensional (3D) ultrasound the pubovisceral muscle in females with BEEC who had undergone surgical reconstruction in childhood. METHODS: In a cross-sectional observational study we examined 12 Caucasian female BEEC patients, mean age 19.9 (range, 15.5-27.4) years, from a single center after a single-stage functional reconstruction with closure of the anterior pelvic ring. As a control group we used 13 Caucasian nulligravidae. 3D transperineal ultrasound volumes were acquired with the patient at rest in the supine position and with an empty bladder, and established pelvic floor parameters were measured. Analysis was conducted offline by two independent investigators. RESULTS: No statistical difference between the BEEC patients and the control group was observed in the anteroposterior diameter or the area of the levator hiatus, or in the maximal thickness of the levator muscle. However, significantly greater values were observed in BEEC patients in the transverse diameter of the levator hiatus (mean, 4.31 vs. 3.81 cm, P = 0.046) and in the levator angle (mean, 80.1 vs. 70.0 degrees, P = 0.040). The measurements obtained in the control group were consistent with those previously reported in the literature. CONCLUSIONS: This is the first study showing that transperineal 3D ultrasound can be used for the assessment of BEEC patients after functional reconstruction. Biometric pelvic floor parameters may be useful in the long-term follow-up of BEEC patients.

Long-term outcome for children born after a first-trimester measurement of increased nuchal translucency with a normal karyotype: a retrospective analysis.

PURPOSE: To study the outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency with respect to fetal loss, structural defects genetic syndromes, and neurological outcome. MATERIALS AND METHODS: Retrospective analysis and telephone interview. All included pregnancies underwent a mid-trimester anomaly scan. RESULTS: 279 pregnancies were included. The overall live birth rate was 81.4 %, and decreased as the NT measurement increased. The most common structural defect was cardiac anomalies (7 %). If the second-trimester anomaly scan was uneventful, the chance of a healthy live birth was 92 %. The number of unexpected neurodevelopmental delays after a normal scan during mid-trimester was 1.1 %. CONCLUSION: Counseling should emphasize that if the karyotype is normal and no fetal structural malformations were missed prenatally after resolution of nuchal thickening, the prognosis is positive.

Course and outcome of fetuses suspected of having coarctation of the aorta during gestation.

PURPOSE: To report the course and outcome of a group of fetuses with prenatal suspicion of coarctation of the aorta. MATERIALS AND METHODS: Retrospective observational study in two tertiary fetal cardiology centers between 1993 - 2005. RESULTS: 96 fetuses of whom 52 infants were born alive were studied. Of the 52 liveborn infants, 34 had coarctation of the aorta (65.4 %), thirteen had prenatally diagnosed additional cardiac anomalies (VSD, ASD, aortic and pulmonary stenosis, persistent left superior vena cava) and three were managed as having hypoplastic left heart syndrome. Three neonates had additional extracardiac malformations diagnosed prenatally. 22 neonates underwent surgery, nineteen within the first ten days of life. One neonate only developed clinical signs of coarctation on the fourteenth day of life. The early surgical mortality was three of 22 (13.6 %). The mortality was influenced by prematurity. The survival rate on the basis of intention-to-treat was twenty-nine of 34 neonates with confirmed coarctation (85.3 %). CONCLUSION: Coarctation of aorta during fetal life continues to be a difficult diagnosis. The potential of progressive hypoplasia of left heart structures during gestation in the case of fetal aortic isthmus stenosis with the development of a hypoplastic left heart should be kept in mind and therefore sequential echo-cardiography is recommended during gestation.

Antenatal Diagnosis of Dizygotic, Monochorionic Twins Following IVF/ICSI.

Monochorionic twins are usually monozygotic and thus usually have the same sex. A case of monochorionic diamniotic twins following IVF/ICSI and laser treatment of the zona pellucida ("assisted hatching") is presented in which partial embryo amalgamation appears to have occurred. Discordant sex between the twins was suspected on detailed antenatal ultrasound at 13 + 3 weeks gestation and was confirmed on subsequent examinations. The sexual phenotype at birth was female for one twin and male for the other. Placental histology confirmed the monochorionic, diamniotic situation. Cytogenetic analysis of both twins was carried out postpartum on various tissues. On karyotyping of blood lymphocytes the male and female twins each had one mosaic of male and female cells. Oral mucosal cells showed normal male and female karyotypes respectively. Analysis of urothelium showed a normal result for the male infant, and a weak gonosomal mosaic with an XX and XY constellation for the female infant. At least for blood lymphocytes, a diagnosis of chimerism was proven.

Venous Doppler in the sonographic surveillance of fetuses with supraventricular tachycardia.

OBJECTIVE: In animals and adult humans sustained supraventricular tachycardia leads to myocardial remodelling and dysfunction, persisting even after drug-induced cardioversion to sinus rhythm. This study was undertaken, to evaluate cardiac function in the human fetus by noninvasive determination of the degree of AV valve incompetence and venous blood flow, in order to enhance understanding of the pathophysiology of fetal supraventricular tachycardia. Furthermore, we wanted to determine the usefulness of these methods in the surveillance of these fetuses before and after drug-induced cardioversion. STUDY DESIGN: Eleven fetuses with supraventricular tachycardia between 24 and 35 weeks of gestation were studied. AV valve regurgitation and venous Doppler waveforms of the inferior vena cava and ductus venosus were evaluated before and after conversion to sinus rhythm. RESULTS: Three different groups of fetuses could be distinguished. The first group consisted of four fetuses with neither signs of hydrops nor AV valve incompetence. Venous indices normalized within one to four days (median 2.5 days) after conversion to sinus rhythm. The second group contained two fetuses with hydrops, but without AV valve incompetence. Their venous indices normalized at the day of conversion and 3 days later, respectively (median 1.5 days). The last group of five fetuses consisted of four fetuses with hydrops and AV valve regurgitation during supraventricular tachycardia. In one fetus with hydrops and supraventricular tachycardia the fetal heart rate was continuously decreased to a level of 160-190 beats/min under drug treatment, but no conversion to sinus rhythm occurred. The venous indices of these fetuses normalized within 12-42 days (median 27 days) after conversion. CONCLUSION: Our data suggest that in sustained fetal supraventricular tachycardia alterations of myocardial function similar to tachycardia-induced 'cardiomyopathy' occur. The severity of tachycardia-induced changes of cardiac function is reflected by the degree and persistence of AV valve incompetence, as well as by alterations of the venous blood flow pattern. Under clinical conditions, the latter can readily and well reproducibly be demonstrated by calculating the venous blood flow indices of the inferior vena cava and ductus venosus.

Reversed end-diastolic flow in the umbilical artery at 10-14 weeks of gestation is associated with absent pulmonary valve syndrome.

OBJECTIVE: To determine the incidence of reversed end-diastolic flow (REDF) in the umbilical artery in high-risk first-trimester pregnancies and evaluate associated conditions. METHODS: This was a prospective evaluation of the umbilical artery Doppler waveforms of 614 consecutive high-risk pregnancies between 10 and 14 weeks of gestation, to determine those with REDF. The associated anomalies and characteristics of these fetuses were then investigated. RESULTS: In 278/614 (45.3%) fetuses, there was positive end-diastolic flow in the umbilical artery; in 331/614 (53.9%) end-diastolic flow was absent and in 5/614 (0.8%) there was REDF. Three of the five fetuses with REDF had tetralogy of Fallot (TOF) with absent pulmonary valve syndrome (APVS) and a patent ductus arteriosus, and all three showed signs of cardiac failure, with reversed blood flow in the ductus venosus during atrial systole and generalized skin edema. Another fetus had a large ventricular septal defect and the remaining fetus had agenesis of the ductus venosus. Three fetuses had trisomy 18 and one had trisomy 13. CONCLUSIONS: REDF in the umbilical artery is very rare in early pregnancy and mostly occurs in association with major fetal vascular anomalies and cardiac defects, particularly TOF with APVS and patent arterial duct. We propose that the patency of the arterial duct in TOF with APVS leads to heart failure with subsequent demise early in pregnancy. Therefore, the frequent absence of the arterial duct observed in APVS in later pregnancy is more likely to be a result of early selection than a prerequisite for the development of this lesion as has been proposed previously.

Clinical application of grey scale and colour Doppler sonography during abnormal third stage of labour.

AIM: The purpose of the study was to investigate whether colour Doppler sonography is helpful in the surveillance of abnormal third stage of labour. MATERIALS AND METHODS: 20 patients were enrolled in the prospective study. Inclusion criteria were third stage of labour > 15 min and/or clinical suspicion of retained placenta. By means of grey scale and colour Doppler sonography the length of distinct phases of third stage of labour and length of visualisation of blood flow between myometrium and placenta were measured. These data were compared with previously published normal values. RESULTS: The patients were allocated into four groups: 1. Patients with prolonged third stage of labour, but normal vaginal delivery of the placenta (Group 1, 8 cases). 2. Patients with clinically suspected retained placental parts (Group 2, 4 cases). 3. Patients with manual removal of the placenta without confirmation of placenta accreta (Group 3, 4 cases). 4. Patients with manual removal of the placenta with confirmation of placenta accreta (Group 4, 4 cases). A significant longer latent phase was responsible for the prolonged third stage of labour in Group 1 (p < 0.05). Blood flow between myometrium and placenta was significantly longer visible in Group 4 than in the normal cohort (p < 0.0001). CONCLUSION: Grey scale sonography can help to distinguish between uncomplicated and complicated prolonged third stage of labour. Colour Doppler sonography can detect persistent blood flow between myometrium and placenta during third stage of labour in cases of placenta accreta. In these instances, the patient may benefit from colour Doppler sonography-guided curettage.

Changing attitudes towards non-invasive aneuploidy screening at advanced maternal age in a German tertiary care center.

OBJECTIVE: To evaluate attitudes towards non-invasive aneuploidy screening at advanced maternal age in a German tertiary care centre and to compare the rate of invasive testing over a period of four years. METHODS: A retrospective analysis of 2657 singleton pregnancies with targeted first and second trimester ultrasound examination at 11-14, 15-18 and 19-23 weeks' gestation. RESULTS: The number of patients at or beyond 35 years increased by 36 % over this period. Concomitant with an increasing proportion of first trimester examinations (+ 13 %), a decrease in 15-18 weeks' examinations (- 14 %), but no changes regarding the 19-23 weeks' examination were observed. A total of 78 (2.9 %) abnormal karyotypes were found and 92 % (56/61) of the cases with autosomal trisomy had sonographic markers suggestive of foetal aneuploidy. The proportion of diagnosed chromosomal abnormalities at 11-14 weeks increased from 14 % in the first half to 49 % in the second half of the study period (p < 0.01). We observed a significant decrease in the rate of invasive procedures, especially in women reassured by a normal ultrasound examination (54 % versus 37 %, p < 0.01). CONCLUSION: There is an increasing acceptance of first trimester targeted ultrasound examination with the potential advantage of an earlier diagnosis of foetal aneuploidy. Furthermore, we observed annually increasing numbers of women who used the results of the ultrasound examination to guide their final decision about invasive testing, rather than undergo genetic testing as a primary option.

Isolated ventricular septal defects detected by color Doppler imaging: evolution during fetal and first year of postnatal life.

OBJECTIVE: To evaluate the development during gestation and up to 1 year postnatally of isolated small ventricular septal defects (VSDs) not visible by gray-scale imaging and detected only on color Doppler fetal echocardiography. METHODS: This was a retrospective analysis of 146 fetuses with isolated VSDs detectable only on color Doppler echocardiography. Complete sequential gray-scale, color Doppler and spectral Doppler examination of the fetal heart were performed. The following variables were documented: site of the VSD, presence of extracardiac or chromosomal anomalies, outcome of the pregnancy and evolution of the defect up to 1 year postnatally. RESULTS: A total of 113 fetuses reached their first year of postnatal life, 23 pregnancies were terminated, there were three stillbirths/neonatal deaths, and seven were lost to follow-up. It was observed that 32.7% (n = 37) of all defects in neonates alive after 1 year closed in utero, 44.3% (n = 50) of defects closed spontaneously within the first postnatal year, and 23.0% (n = 26) of defects did not close. In all, a comparable number of perimembranous and muscular septal defects closed spontaneously in utero and during the first year of postnatal life. Among 35 fetuses with extracardiac anomalies 51.4% (n = 18) were euploid. CONCLUSION: Small VSDs, detectable only by color Doppler echocardiography, show a high spontaneous intrauterine and postnatal closure rate. These findings might be of value for prenatal parental counseling.

Ductus venosus blood flow alterations in fetuses with obstructive lesions of the right heart.

OBJECTIVE: To assess the impact of isolated lesions of the fetal right heart on ductus venosus (DV) blood flow profiles. METHODS: Retrospective evaluation of DV blood flow profiles in 83 fetuses with isolated right-sided cardiac lesions. Cases were divided into two groups. Group A had right-sided cardiac lesions associated with a large ventricular septal defect that equalized interventricular pressures (double outlet right ventricle (n = 12), tetralogy of Fallot (n = 19), pulmonary atresia (n = 5)). Group B had right-sided cardiac lesions with obstruction of the inflow (tricuspid atresia with ventricular septal defect (n = 14)) or obstruction of the outflow with intact ventricular septum (Ebstein's anomaly (n = 13), pulmonary stenosis (n = 13) and pulmonary atresia (n = 7)). Comparisons were made with 585 uneventful singleton pregnancies and previously published normative values. RESULTS: Fetuses in Group B had significantly higher rates of abnormal DV flow profiles compared to Group A and controls (P < 0.01). Conversely, there were no significant differences concerning DV parameters between fetuses in Group A and controls. Despite these different DV flow characteristics, there were no significant differences concerning signs of cardiac failure and/or survival to the perinatal period between the two groups. CONCLUSIONS: Right-sided cardiac lesions with obstruction of the inflow or outflow with intact ventricular septum are significantly associated with abnormally high pulsatilities in the DV and may even cause a reversal of flow during atrial contraction. These changes do not necessarily indicate cardiac failure, as they are primarily attributable to the special hemodynamics of the cardiac defect.

Prenatal diagnosis of persistent left superior vena cava and its associated congenital anomalies.

OBJECTIVE: To evaluate the associated conditions and the outcome of persistent left superior vena cava (PLSVC) detected in fetal life. METHODS: This was a retrospective review of all cases of PLSVC detected prenatally between 1998 and 2004 in two tertiary referral centers in Germany. Patient charts, ultrasound video recordings and still frames of all cases were reviewed for associated conditions and outcome. RESULTS: Eighty-two cases of PLSVC were detected in the study period. Thirty-seven cases (45%) were associated with heterotaxy syndromes, 19 (23%) with isolated cardiac malformations, seven (9%) with aneuploidy, six (7%) with complex malformation syndromes and six (7%) with isolated extracardiac malformations. Seven cases (9%) had no associated condition. Eighty-three percent of the fetuses in this series had associated cardiac malformations; the most frequent cardiac malformations in those with heterotaxy syndromes were complete atrioventricular septal defect (75%) and right outflow tract obstruction (58%). After exclusion of cases with heterotaxy, most congenital heart defects were ventricular septal defects (41%) and coarctation (34%). The outcome of PLSVC was determined solely by the associated conditions. After exclusion of terminated cases, heterotaxy syndromes as well as complete atrioventricular septal defects were associated significantly with perinatal and infant death. In contrast, all cases with isolated PLSVC or associated correctable extracardiac malformations survived and were doing well at the time of writing. CONCLUSIONS: PLSVC detected in fetal life has to be followed by a meticulous inspection of the fetal anatomy as it is frequently associated with heterotaxy syndromes, other cardiac/non-cardiac malformations and aneuploidy that determine the outcome. Isolated PLSVC is a benign vascular anomaly and may not affect the outcome.