D-Transposition of the great arteries with restrictive foramen ovale in the fetus: the dilemma of predicting the need for postnatal urgent balloon atrial septostomy.

OBJECTIVE: Restrictive foramen ovale (FO) in dextro-transposition of the great arteries (d-TGA) with intact ventricular septum may lead to severe life-threatening hypoxia within the first hours of life, making urgent balloon atrial septostomy (BAS) inevitable. Reliable prenatal prediction of restrictive FO is crucial in these cases. However, current prenatal echocardiographic markers show low predictive value, and prenatal prediction often fails with fatal consequences for a subset of newborns. In this study, we described our experience and aimed to identify reliable predictive markers for BAS. METHODS: We included 45 fetuses with isolated d-TGA that were diagnosed and delivered between 2010 and 2022 in two large German tertiary referral centers. Inclusion criteria were the availability of former prenatal ultrasound reports, of stored echocardiographic videos and still images, which had to be obtained within the last 14 days prior to delivery and that were of sufficient quality for retrospective re-analysis. Cardiac parameters were retrospectively assessed and their predictive value was evaluated. RESULTS: Among the 45 included fetuses with d-TGA, 22 neonates had restrictive FO postnatally and required urgent BAS within the first 24 h of life. In contrast, 23 neonates had normal FO anatomy, but 4 of them unexpectedly showed inadequate interatrial mixing despite their normal FO anatomy, rapidly developed hypoxia and also required urgent BAS ('bad mixer'). Overall, 26 (58%) neonates required urgent BAS, whereas 19 (42%) achieved good O2 saturation and did not undergo urgent BAS. In the former prenatal ultrasound reports, restrictive FO with subsequent urgent BAS was correctly predicted in 11 of 22 cases (50% sensitivity), whereas a normal FO anatomy was correctly predicted in 19 of 23 cases (83% specificity). After current re-analysis of the stored videos and images, we identified three highly significant markers for restrictive FO: a FO diameter < 7 mm (p < 0.01), a fixed (p = 0.035) and a hypermobile (p = 0.014) FO flap. The maximum systolic flow velocities in the pulmonary veins were also significantly increased in restrictive FO (p = 0.021), but no cut-off value to reliably predict restrictive FO could be identified. If the above markers are applied, all 22 cases with restrictive FO and all 23 cases with normal FO anatomy could correctly be predicted (100% positive predictive value). Correct prediction of urgent BAS also succeeded in all 22 cases with restrictive FO (100% PPV), but naturally failed in 4 of the 23 cases with correctly predicted normal FO ('bad mixer') (82.6% negative predictive value). CONCLUSION: Precise assessment of FO size and FO flap motility allows a reliable prenatal prediction of both restrictive and normal FO anatomy postnatally. Prediction of likelihood of urgent BAS also succeeds reliably in all fetuses with restrictive FO, but identification of the small subset of fetuses that also requires urgent BAS despite their normal FO anatomy fails, because the ability of sufficient postnatal interatrial mixing cannot be predicted prenatally. Therefore, all fetuses with prenatally diagnosed d-TGA should always be delivered in a tertiary center with cardiac catheter stand-by, allowing BAS within the first 24 h after birth, regardless of their predicted FO anatomy.

Prenatal diagnosis, associated findings and postnatal outcome in fetuses with congenitally corrected transposition of the great arteries.

PURPOSE: To analyze anatomic features and associated malformations in 37 prenatally detected cases of congenitally corrected transposition of the great arteries (ccTGA) and to evaluate the prenatal course, neonatal outcome and mid-term follow-up. METHODS: Retrospective analysis of prenatal ultrasound of 37 patients with ccTGA in two tertiary centers between 1999 and 2019. All fetuses received fetal echocardiography and a detailed anomaly scan. Postnatal outcome and follow-up data were retrieved from pediatric reports. RESULTS: Isolated ccTGA without associated cardiac anomalies was found in 13.5% (5/37), in all other fetuses additional defects such as VSD (73.0%), pulmonary obstruction (35.1%), tricuspid valve anomalies (18.9%), aortic arch anomalies (13.5%), ventricular hypoplasia (5.4%) or atrioventricular block (5.4%) were present. The rate of extracardiac malformations or chromosomal aberrations was low. There were 91.9% (34/37) live births and postnatal survival rates reached 91.2% in a mean follow-up time of 4.98 years. The prenatal diagnosis of ccTGA was confirmed postnatally in all but one documented live birth and the prenatal counselling regarding the expected treatment after birth (uni- versus biventricular repair) was reassured in the majority of cases. The postnatal intervention rate was high, 64.7% (22/34) received surgery, the intervention-free survival was 36.7%, 35.0% and 25.0% at 1 month, 1 year and 10 years, respectively. CONCLUSIONS: ccTGA is a rare heart defect often associated with additional heterogeneous cardiac anomalies that can be diagnosed prenatally. The presented study demonstrates a favorable outcome in most cases but the majority of patients require surgical treatment early in life.

Prenatal diagnosis, associated findings and postnatal outcome of fetuses with truncus arteriosus communis (TAC).

PURPOSE: To assess the spectrum of associated anomalies, the intrauterine course, postnatal outcome and management of fetuses with truncus arteriosus communis (TAC) METHODS: All cases of TAC diagnosed prenatally over a period of 8 years were retrospectively collected in two tertiary referral centers. All additional prenatal findings were assessed and correlated with the outcome. The accuracy of prenatal diagnosis was assessed. RESULTS: 39 cases of TAC were diagnosed prenatally. Mean gestational age at first diagnosis was 22 weeks (range, 13-38). Two cases were lost follow-up. Correct prenatal diagnosis of TAC was made in 21 of 24 (87.5%) cases and of TAC subtype in 19 of 21 (90.5%) cases. Prenatal diagnosis of TAC was incorrect in three cases: one newborn had aortic atresia with ventricular septal defect postnatally, one had hypoplastic right ventricle with dextro Transposition of the Great Arteries with coartation of the aorta and a third newborn had Tetralogy of Fallot with abnormal origin of the left pulmonary artery arising from the ascending aorta postnatally. These three cases were excluded from further analysis. In 9 of 34 (26.5%) cases, TAC was an isolated finding. 13 (38.2%) fetuses had additional chromosomal anomalies. Among them, microdeletion 22q11.2 was most common with a prevalence of 17.6% in our cohort. Another 3 fetuses were highly suspicious for non-chromosomal genetic syndromes due to their additional extra-cardiac anomalies, but molecular diagnosis could not be provided. Major cardiac and extra-cardiac anomalies occurred in 3 (8.8%) and in 20 (58.8%) cases, respectively. Predominantly, extra-cardiac anomalies occurred in association with chromosomal anomalies. Additionally, severe IUGR occurred in 6 (17.6%) cases. There were 14 terminations of pregnancy (41.2%), 1 (2.9%) intrauterine fetal death, 5 postnatal deaths (14.7%) and 14 (41.2%) infants were alive at last follow-up. Intention-to-treat survival rate was 70%. Mean follow-up among survivors was 42 months (range, 6-104). Postoperative health status among survivors was excellent in 11 (78.6%) infants, but 5 (46.2%) of them needed repeated re-interventions due to recurrent pulmonary artery or conduit stenosis. The other 3 (21.4%) survivors were significantly impaired due to non-cardiac problems. CONCLUSION: TAC is a rare and complex cardiac anomaly that can be diagnosed prenatally with high precision. TAC is frequently associated with chromosomal and extra-cardiac anomalies, leading to a high intrauterine and postnatal loss rate due to terminations and perioperative mortality. Without severe extra-cardiac anomalies, postoperative short- and medium-term health status is excellent, independent of the subtype of TAC, but the prevalence of repeated interventions due to recurrent stenosis is high.

Prenatal diagnosis, associated findings and postnatal outcome of fetuses with truncus arteriosus communis (TAC).

PURPOSE: To assess the spectrum of associated anomalies, the intrauterine course, postnatal outcome and management of fetuses with truncus arteriosus communis (TAC) METHODS: All cases of TAC diagnosed prenatally over a period of 8 years were retrospectively collected in two tertiary referral centers. All additional prenatal findings were assessed and correlated with the outcome. The accuracy of prenatal diagnosis was assessed. RESULTS: Thirty nine cases of TAC were diagnosed prenatally. Mean gestational age at first diagnosis was 22 weeks (range 13-38). Two cases were lost follow-up. Correct prenatal diagnosis of TAC was made in 87.5% and of TAC subtype in 90.5%. Prenatal diagnosis was incorrect in three cases: one newborn had aortic atresia with ventricular septal defect (VSD) postnatally, one had hypo-plastic right ventricle with dextro transposition of the great arteries (d-TGA) with coarctation of the aorta and a third newborn had tetralogy of fallot (TOF) with abnormal origin of the left pulmonary artery arising from the ascending aorta postnatally. These 3 cases were excluded from further analysis. In 26.5% of cases, TAC was an isolated finding. 38.2% of fetuses had additional chromosomal anomalies. Among them, microdeletion 22q11.2 was most common with a prevalence of 17.6% in our cohort. Another 3 fetuses were highly suspicious for non-chromosomal genetic syndromes due to their additional extra-cardiac anomalies, but molecular diagnosis could not be provided. Major cardiac and extra-cardiac anomalies occurred in between 8.8% and 58.8%, respectively. Predominantly, extra-cardiac anomalies occurred in association with chromosomal anomalies. Additionally, severe IUGR occurred in 17.6%. There were 14 terminations of pregnancy (41.2%), 1 (2.9%) intrauterine fetal death, 5 postnatal deaths (14.7%) and 14 (41.2%) infants were alive at last follow-up. Intention-to-treat survival rate was 70%. Mean follow-up among survivors was 42 months (range 6-104). Postoperative health status among survivors was excellent in 78.6%, but 46.2% needed repeated re-interventions due to recurrent pulmonary artery or conduit stenosis. The other 21.4% of survivors were significantly impaired due to non-cardiac problems. CONCLUSION: Truncus arteriosus communis is a rare and complex cardiac anomaly that can be diagnosed prenatally with high precision. TAC is frequently associated with chromosomal and extra-cardiac anomalies, leading to a high intrauterine and postnatal loss rate due to terminations and perioperative mortality. Without severe extra-cardiac anomalies, postoperative health status is excellent, independent of the subtype of TAC, but the prevalence of repeated interventions due to recurrent stenosis is high.

Vesicoamniotic shunting for fetal megacystis in the first trimester with a Somatex® intrauterine shunt.

PURPOSE: The objective was to evaluate the feasibility of vesicoamniotic shunting (VAS) in the first trimester with the Somatex® intrauterine shunt and report on complications and neonatal outcome. METHODS: Retrospective cohort study of all VAS before 14 weeks at two tertiary fetal medicine centres from 2015 to 2018 using a Somatex® intrauterine shunt. All patients with a first trimester diagnosis of megacystis in male fetuses with a longitudinal bladder diameter of at least 15 mm were offered VAS. All patients that opted for VAS after counselling by prenatal medicine specialists, neonatologists and pediatric nephrologists were included in the study. Charts were reviewed for complications, obstetric and neonatal outcomes. RESULTS: Ten VAS were performed during the study period in male fetuses at a median GA of 13.3 (12.6-13.9) weeks. There were two terminations of pregnancy (TOP) due to additional malformations and one IUFD. Overall there were four shunt dislocations (40%); three of those between 25-30 weeks GA. Seven neonates were born alive at a median GA of 35.1 weeks (31.0-38.9). There was one neonatal death due to pulmonary hypoplasia. Neonatal kidney function was normal in the six neonates surviving the neonatal period. After exclusion of TOP, perinatal survival was 75%, and 85.7% if only live-born children were considered. CONCLUSION: VAS in the first trimester is feasible with the Somatex® Intrauterine shunt with low fetal and maternal complication rates. Neonatal survival rates are high due to a reduction in pulmonary hypoplasia and the rate of renal failure at birth is very low. VAS can be safely offered from the late first trimester using the Somatex® intrauterine shunt.

First-trimester ductus venosus velocity ratio as a marker of major cardiac defects.

OBJECTIVES: To examine ductus venosus (DV) flow in fetuses with and those without a cardiac defect and to evaluate different phases of DV flow in addition to the standard assessment of DV pulsatility index for veins (PIV) and the a-wave. METHODS: This was a retrospective study of singleton pregnancies that underwent first-trimester ultrasound screening, which included DV flow assessment, at the University of Tübingen (between 2010 and 2017) or the University of Cologne (between 2013 and 2016). The study population comprised normal fetuses and fetuses with major cardiac defects at a ratio of 10:1. For each fetus, the following parameters of the DV waveform were evaluated: qualitative assessment of the a-wave, PIV measurement and ratios of flow velocities during the S-wave (S) or D-wave (D) and the a-wave (a) or v-wave (v). Reproducibility of DV-PIV and DV flow ratios was evaluated in 30 fetuses in which the DV flow was assessed twice. RESULTS: Our study population included 480 anatomically normal fetuses and 48 with a cardiac defect. Median fetal nuchal translucency (NT) in the normal and in the affected group was 1.9 mm and 2.6 mm, respectively. In five (1.0%) of the normal and 18 (37.5%) of the affected cases, fetal NT thickness was above the 99th centile. In the normal group, the DV a-wave was reversed in 15 (3.1%) cases and the DV-PIV was above the 95th centile in 25 (5.2%). In the cases with cardiac defects, the a-wave was reversed and the DV-PIV measurement was above the 95th centile in 26 (54.2%). The reproducibility of measurement of the ratios of DV flow velocities was similar to that of the DV-PIV. Most cardiac defects were associated with an abnormal a/S or a/D ratio. If the cut-off for these two ratios was set at the 5th centile of the normal distribution, the detection rate of fetal cardiac anomalies would be 62.5%. This compares favorably with the DV-PIV, which detects 26 (54.2%) of the affected fetuses for the same threshold. CONCLUSION: In the first trimester, the a/S ratio has the potential to detect approximately 60% of congenital cardiac defects for a false-positive rate of 5%. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

First-trimester intervention in twin reversed arterial perfusion sequence: does size matter?

OBJECTIVE: To evaluate the outcome of first-trimester intervention (12 + 0 to 14 + 0 weeks of gestation) in pregnancies complicated by twin reversed arterial perfusion (TRAP) sequence. METHODS: All monochorionic diamniotic twin pregnancies diagnosed with TRAP sequence that underwent intrafetal laser ablation (IFL) of the feeding vessels before 14 + 0 weeks of gestation at the University of Bonn between 2010 and 2015 were analyzed retrospectively for intrauterine course and outcome. RESULTS: In the study period, 12 pregnancies with TRAP sequence were treated by IFL. Median gestational age at intervention was 13.2 (interquartile range (IQR), 12.6-13.6) weeks. In all cases, one intervention sufficed to disrupt the perfusion of the TRAP twin. There was no case of miscarriage, preterm prelabor rupture of membranes or hemorrhage. In five (41.7%) pregnancies, intrauterine death of the pump twin occurred at a median of 72.0 (IQR, 54.0-90.0; range, 48-96) h after intervention. The remaining seven pregnancies continued uneventfully resulting in birth of a healthy infant at term. A comparison of survivors and non-survivors identified a significant difference in median discordance between crown-rump length (CRL) of the pump twin and upper pole-rump length (URL) of the TRAP twin ((CRL - URL)/CRL ratio, 0.56 vs 0.31; P < 0.05 and URL/CRL ratio, 0.44 vs 0.68; P < 0.05). Survivors were treated at a significantly later gestational age than were non-survivors (median, 13.4 (IQR, 12.9-14.1) vs 12.6 (IQR, 12.5-13.1); P < 0.05). However, none of these parameters independently predicted survival. CONCLUSIONS: Although technically feasible, IFL performed in the first trimester for TRAP sequence is associated with a significant fetal loss rate. Gestational age at intervention, (CRL - URL)/CRL ratio and URL/CRL ratio are potential predictors of pregnancy outcome. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Prenatal diagnosis of absent pulmonary valve syndrome from first trimester onwards: novel insights into pathophysiology, associated conditions and outcome.

OBJECTIVE: To assess the spectrum of associated anomalies, intrauterine course and outcome in fetuses with absent pulmonary valve syndrome (APVS). METHODS: All cases with a prenatal diagnosis of APVS at two centers over a period of 13 years were analyzed retrospectively. APVS was diagnosed in the presence of rudimentary or dysplastic pulmonary valve leaflets with to-and-fro blood flow in the pulmonary trunk on color and pulsed-wave Doppler ultrasound. Data on demographic characteristics, presence of associated conditions, Doppler studies and pregnancy outcome were reviewed. RESULTS: During the study period, 40 cases of APVS were diagnosed prenatally. Thirty-seven (92.5%) cases were associated with tetralogy of Fallot (TOF) and three (7.5%) had an intact ventricular septum. Patency of the ductus arteriosus (DA) was found in 17/37 (45.9%) TOF cases and in all three cases with an intact ventricular septum. Mean gestational age at diagnosis was 19.7 (range, 12-34) weeks with 10 (25.0%) cases (all with TOF) diagnosed in the first trimester. TOF was an isolated finding in 15 (37.5%) cases. Chromosomal anomalies, cardiac defects and extracardiac anomalies were present in 18 (45.0%), four (10.0%) and three (7.5%) cases, respectively. Among the 40 cases, there were 19 (47.5%) terminations of pregnancy, six (15.0%) intrauterine deaths, four (10.0%) neonatal deaths and 11 (27.5%) survivors. Patency of the DA, reversed flow during atrial contraction in the ductus venosus, umbilical artery or fetal middle cerebral artery, and hydrops/increased nuchal translucency thickness were significantly associated with non-survival. All 10 cases diagnosed in the first trimester had a patent DA and abnormal Doppler parameters, eight had hydrops and/or increased nuchal translucency, six were associated with trisomy 13 or 18 and none survived. CONCLUSION: APVS diagnosed in the first trimester is significantly associated with TOF, patency of the DA, abnormal Doppler parameters, lethal trisomies and intrauterine mortality. Cases of APVS with isolated TOF and agenesis of the DA have a better outcome than those with additional anomalies, with > 80% survival. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

[Epidural anesthesia for fetoscopy : Retrospective analysis of a one-year cohort]. / Peridurale Anästhesie zur Fetoskopie : Retrospektive Analyse einer Einjahreskohorte.

BACKGROUND: The introduction of routine prenatal screening using ultrasound has led to a substantial increase in diagnoses of fetal disorders that are amenable to intrauterine treatment. While an ultrasound guided insertion of small bore cannulas can be performed under local anesthesia, insertion of a fetoscope usually requires anesthetic management for the mother and the fetus. Additionally, the fetus' intrauterine position may have to be manipulated in order to enable access. Such manoeuvres depend on relaxation of the mother's abdominal wall. General anesthesia has been the preferred method, but it involves substantial risks both to the mother and possibly the fetus, especially when combined with aggressive uterine relaxation. Epidural anesthesia (EA) may provide an alternative. Only little systematic data on the efficacy, requirements or untoward effects of epidural anesthesia for fetoscopy exists in the literature, yet a high rate of arterial hypotension following EA has been reported. We therefore aimed to assess the hemodynamic reaction to EA in a mixed population of pregnant women undergoing fetoscopy for a variety of fetal conditions and performed a retrospective analysis of a one-year cohort in a single university hospital. METHODS: The local ethics committee approved this retrospective analysis and waived patient consent (local study identifier 304/14). We extracted anesthesiologic and hemodynamic data from the anesthesia charts of 23 consecutive cases of elective fetoscopic procedures requiring anesthesia between May 2011 and 2012 at a German university medical centre. RESULTS: Twenty-three cases of fetoscopy were included in this study. Indications for fetoscopy were congenital diaphragmatic hernia (n = 9), aortic valve stenosis (n = 8), and feto-fetal transfusion syndrome (n = 6). Median gestational age was 26 (8, interquartile range) weeks. Lumbar epidural catheters were injected with a median dose of 0.09 (0.02, interquartile range) ml ropivacaine 0.75% per cm maternal height. In 11 patients, EA was titrated to a sufficient height whereas 12 patients received a single dose with a median volume of 0.08 (0.02) ml/cm maternal height. After injection, systolic arterial pressure did not change significantly, mean arterial pressure dropped from 93 (14) mm Hg to 88 (15) mm Hg (p = 0.03). Heart rate fell from 96 (29) to 89 (20) beats per minute (p = 0.02). At incision, neither blood pressure nor heart rate changed significantly. For hemodynamic support during the procedure, cafedrine/theodrenaline (Akrinor™) was injected in five patients (median dose in these patients 0.5 (1.5) ml). One patient carrying a fetus with a poor prognosis and who underwent two separate procedures demanded additional sedation, for which we chose remifentanil. Another patient was hypotensive after intravenous administration of the tocolytic drug atosiban. A stable hemodynamic condition was quickly restored in this patient with administration of cafedrine/theodrenaline and i. v. fluids. All procedures were performed without conversion to general anaesthesia. CONCLUSION: This retrospective study demonstrates that fetoscopic procedures under EA in the range of indications treated in our institution can be performed safely. EA was associated with stable hemodynamic conditions in this mixed cohort of pregnant women. EA appears thus to be a suitable technique for fetoscopy, avoiding the risks inherent to general anesthesia in pregnant women.

Extracardiac anomalies in prenatally diagnosed heterotaxy syndrome.

OBJECTIVE: To assess the incidence and impact of extracardiac anomalies on the prognosis of fetuses with heterotaxy syndrome. METHODS: All fetuses diagnosed with heterotaxy syndrome by three experienced examiners over a period of 14 years (1999-2013) were reviewed retrospectively. RESULTS: In total, 165 fetuses with heterotaxy syndrome were diagnosed in the study period. One hundred and fifty (90.9%) had cardiac defects; extracardiac anomalies that did not involve the spleen were present in 26/165 (15.8%) cases. Of the total study cohort, termination of pregnancy was performed in 49 (29.7%) cases, intrauterine death occurred in 11 (6.7%), postnatal death occurred in 38 (23.0%) and 67 (40.6%) were alive at the latest follow-up, resulting in a total perinatal and pediatric mortality of 59.4%. Among the 105 liveborn neonates, 15 (14.3%) had extracardiac anomalies with significant impact on the postnatal course: one neonate died following repair of an encephalocele, six had successful treatment for various types of intestinal malrotation and/or atresia and one underwent hiatal hernia repair; the remaining seven had biliary atresia, of which five died and the two survivors are awaiting liver transplantation. The status of the spleen was assessed in 93/105 liveborn children and was found to be abnormal in 84/93 (90.3%). There were three cases of lethal sepsis, all associated with asplenia. Of the 38 postnatal deaths, 29 (76.3%) had a cardiac cause, seven (18.4%) had an extracardiac cause and in two (5.2%) the reason was uncertain. CONCLUSIONS: Although the leading causes of death in fetuses and children with heterotaxy syndrome are cardiac, a small subset of fetuses have extracardiac anomalies with significant impact on outcome. These anomalies often escape prenatal detection, and therefore neonates at risk should be monitored for bowel obstruction, biliary atresia and immune dysfunction in order to allow timely intervention through a multidisciplinary approach. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Evaluation of right ventricular function in fetal hypoplastic left heart syndrome by color tissue Doppler imaging.

OBJECTIVE: Postnatal outcome of fetuses with hypoplastic left heart syndrome (HLHS) is determined mainly by right ventricular function. Our study examines whether there are differences in right ventricular function during gestation of fetuses with HLHS compared with healthy fetuses. METHODS: A prospective study was conducted including 20 fetuses with HLHS and 20 gestational age-matched controls. Peak systolic and diastolic right ventricular free wall velocities were assessed using color tissue Doppler imaging (c-TDI). Subsequently, isovolumic time intervals, ejection time (ET'), E'/A' ratio and tissue Doppler-derived myocardial performance index (MPI') were calculated. Possible changes to c-TDI indices during the course of pregnancy in both the HLHS group and the control group were investigated. RESULTS: Examination of right ventricular function revealed significantly lower E' velocities (13.6 vs 21.0 cm/s; P = 0.017) and E'/A' ratios (0.55 vs 0.76; P = 0.012) and prolonged isovolumic contraction time (ICT') (57.0 vs 45.7 ms; P = 0.008) in the HLHS group compared with healthy fetuses. Furthermore, isovolumic relaxation time and MPI' increased significantly with gestational age in HLHS fetuses but not in controls. Values for systolic and diastolic peak velocities (E', A', S'), ET' and ICT' did not change significantly during gestation in either group. CONCLUSION: Right ventricular function in HLHS is altered as early as in fetal life, well before palliative surgery is performed. Future research should provide further insight into ventricular remodeling during gestation in cases of HLHS. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Intrauterine vesicoamniotic shunting for fetal megacystis.

OBJECTIVE: To examine the outcome of fetuses with megacystis treated with vesicoamniotic shunting (VAS) from 14 weeks onward. METHODS: Retrospective review of all fetuses that received VAS at two centres from 2004 to 2012. RESULTS: 53 fetuses with megacystis were included in the study. Mean gestational age at diagnosis was 16.4 weeks. Mean gestational age at first shunt placement was 17.8 weeks. The first shunt placement was performed before 16 weeks in 18 (34 %) cases. The mean number of shunts was 1.38. Dislocation occurred in 35 (66 %). TOP was performed in 21 (39.6 %), intrauterine death occurred in two (3.8 %) and spontaneous abortion in three cases (5.7 %). Of the 27 (50.9 %) live births, 17 (32.1 %) infants survived. Normal renal function was present in 10 cases, 4 have compensated renal failure and 3 infants had renal transplantation. Oligohydramnios was significantly associated with non-survival and renal insufficiency. The gestational age at VAS was neither correlated with renal function after birth nor with the survival in our cohort. Conversely, the interval between first shunt placement and delivery was positively correlated with survival and normal renal function. The gestational age at delivery was significantly higher in survivors and those born with normal renal function. CONCLUSION: Despite intervention, the morbidity and mortality of megacystis is still high. We failed to demonstrate that early intervention is associated with an improved rate of normal renal function after birth. Oligohydramnios was the only parameter identifying fetuses with unfavourable outcome, while all other parameters were inconclusive.

Morgagni hernia presenting with massive pericardial effusion and ascites: prenatal management by thoraco-amniotic shunting and fetal endoscopic tracheal occlusion (FETO) and review of the literature.

BACKGROUND: Morgagni hernia presents a rare type of congenital diaphragmatic hernia (CDH, about 2-5 %) (Herman, J Perinatol 21:343-344, 2001), which is characterized by an anterior mainly right-sided defect of the diaphragm. Infrequently, this is combined with a herniation of the liver into the pericardial cavity (Aké, Prenat Diagn 11:719-724, 1991; Stevens, Pediatr Radiol 26:791-793, 1996). This may cause massive pericardial effusion and subsequently lung hypoplasia (Pober et al., Congenital diaphragmatic hernia overview, University of Washington, Seattle, 2015; Ikeda, J Perinat Med 30:336-340, 2002; Hara, J Obstet Gynaecol Res 33:561-565, 2007). So far only few cases have been reported in fetal life. CASE: We report a case of Morgagni hernia with pericardiodiaphragmatic aplasia, complicated by two-compartment effusions (massive pericardial effusion and mild ascites), diagnosed in the second trimester. The case was successfully managed in utero with thoraco-amniotic shunting and late tracheal occlusion, followed by corrective surgery after birth. DISCUSSION: A review of the literature was performed, identifying 13 cases of prenatally diagnosed Morgagni hernia. The diagnosis was established by the sonographic findings of pericardial effusion und intrathoracic herniation of the liver. In only two cases a prenatal intervention was carried out. All neonates were operated postnatally with excellent final outcome.

Prenatal Diagnosis of Anomalies of the Corpus Callosum over a 13-Year Period.

Purpose: The clinical use of detailed fetal neurosonography has increased over the past decade. This retrospective study explored the spectrum and frequency of different forms of corpus callosum anomalies (CCAs) in a level III center setting. Materials and Methods: Between 1999 and 2012, 48 907 detailed second and third trimester scans were performed. Among them, 140 (0.29 %) cases of CCA were diagnosed. We differentiated between complete and partial agenesis, hypoplastic corpus callosum (CC) and isolated and non-isolated forms. Results: The 140 cases with CCA included 107 with complete agenesis (76 %), 20 with partial agenesis (14 %) and 13 with a hypoplastic CC (9 %). Of them, 29 % (41/140) were isolated and 71 % (99/140) were non-isolated cases. Analysis of three time periods demonstrated an increase in the diagnosis of all types of CCA (1999 - 2004: n = 26; 2005 - 2008: n = 32; 2009 - 2012: n = 82), whereas the ratio between isolated and non-isolated types remained stable. The median gestational age at diagnosis was 25.0 weeks and did not change over the years. Non-isolated forms were associated with additional non-chromosomal cerebral anomalies in 22.2 % (22/99), extracerebral non-chromosomal malformations in 40.4 % (40/99), aneuploidies in 21.2 % (21/99), and syndromes in 16.2 % (16/99). All aneuploid fetuses except one showed cerebral or extracerebral malformations. Conclusion: The rise in prenatal diagnosis of CCA reflects the increased use of systematic fetal neurosonography over the years. Despite an overall increase in diagnosed cases, the relationship between isolated CCAs and complex forms remained stable. Since the percentage of coexisting anomalies is high, a detailed assessment by a specialist is recommended.

Evaluation of right ventricular function in fetuses with hypoplastic left heart syndrome using tissue Doppler techniques.

OBJECTIVE: The outcome of patients with hypoplastic left heart syndrome (HLHS) is influenced by right ventricular function. This study aimed to investigate whether differences in right ventricular function of fetuses with HLHS are present during gestation. METHODS: This was a prospective study comprising 14 fetuses with HLHS (28 measurements obtained in total) and 28 normal control fetuses (31 measurements obtained in total). The two groups were matched for gestational age. Ultrasound M-mode was used to assess displacement of the tricuspid annulus. Spectral Doppler and myocardial tissue Doppler-derived inflow and outflow velocities were assessed. Tricuspid valve peak early wave to peak active wave (E/A) ratio, the early wave to early diastolic annular relaxation velocity (E/E') ratio and the tissue Doppler-derived myocardial performance index (MPI') were calculated. RESULTS: E-wave velocity was significantly higher in fetuses with HLHS than in control fetuses (mean, 40.14 cm/s vs 35.47 cm/s; P < 0.05, respectively), and A-wave velocity in fetuses with HLHS showed a tendency for higher values in the right ventricle compared with normal control fetuses, but this did not reach statistical significance (61.16 cm/s vs 54.64 cm/s; P = 0.08). The E/A ratio increased during gestation in controls, but this increase was not seen in HLHS fetuses. Peak annular velocity during atrial contraction (A') and the E/E' ratio were significantly lower in controls than in HLHS fetuses: 9.50 cm/s vs 10.39 cm/s (P < 0.05) and 5.77 vs 7.37 (P < 0.05), respectively. There were no differences for right-ventricular MPI' or tricuspid annular plane systolic excursion between HLHS fetuses and controls. CONCLUSION: The results of this study show that altered right ventricular function in HLHS infants may develop antenatally. It is hoped that confirmation of these findings using Doppler-independent techniques will lead to further exploration of ventricular function in HLHS fetuses. Consequently, parental counseling and postnatal management strategies could be influenced.

Cranial and cerebral signs in the diagnosis of spina bifida between 18 and 22 weeks of gestation: a German multicentre study.

OBJECTIVE: The aim of this article is to study secondary cranial signs in fetuses with spina bifida in a precisely defined screening period between 18 + 0 and 22 + 0 weeks of gestation. METHOD: On the basis of retrospective analysis of 627 fetuses with spina bifida, the value of indirect cranial and cerebral markers was assessed by well-trained ultrasonographers in 13 different prenatal centres in accordance with the ISUOG (International Society of Ultrasound in Obstetrics and Gynecology) guidelines on fetal neurosonography. RESULTS: Open spina bifida was diagnosed in 98.9% of cases whereas 1.1% was closed spina bifida. Associated chromosomal abnormalities were found in 6.2%. The banana and lemon signs were evident in 97.1% and 88.6% of cases. Obliteration of the cisterna magna was seen in 96.7%. Cerebellar diameter, head circumference and biparietal diameter were below the 5th percentile in chromosomally normal fetuses in 72.5%, 69.7% and 52%, respectively. The width of the posterior horn of the lateral ventricle was above the 95th percentile in 57.7%. The secondary cranial and cerebral signs were dependent on fetal chromosome status and width of the posterior horn. Biparietal diameter was also dependent on the chromosome status with statistical significance p = 0.0068. Pregnancy was terminated in 89.6% of cases. CONCLUSION: In standard measuring planes, lemon sign, banana sign and an inability to image the cistern magna are very reliable indirect ultrasound markers of spina bifida. © 2014 John Wiley & Sons, Ltd.

Uptake of non-invasive prenatal testing (NIPT) and impact on invasive procedures in a tertiary referral center.

PURPOSE: The introduction of non-invasive prenatal testing (NIPT) by isolation of cell-free fetal DNA from maternal blood is a new diagnostic option in prenatal care. The aim of the study was to investigate the algorithm of prenatal testing before and after the introduction of NIPT in a tertiary referral center and to investigate the influence of NIPT on the frequency of invasive procedures. METHODS: Retrospective data analysis was conducted of all singleton pregnancies that presented for first trimester screening 17 months before and after the introduction of NIPT (n = 2271). Women were categorized into three risk groups: low risk for trisomy 21 (<1:1000), intermediate risk (1:101-1:1000) and high risk (≥1:100). The choice of diagnostic testing after FTS was analyzed. RESULTS: 1093 (group 1) presented before and 1178 (group 2) after the introduction of NIPT. The rate of high-risk patients was equal in both groups (14.4 vs. 15.4 %). No differences were found with regard to invasive testing (11.6 vs. 11.3 %). NIPT was chosen by 3.7 % (44/1178) in group 2. Of those with NIPT, 72.7 % had a risk estimate of <1:100, but 90.9 % were ≥35 years old. The rate of NIPT among high-risk patients with a normal ultrasound examination was 25 %. CONCLUSION: At present, NIPT is chosen mainly for reassurance by patients not considered to be at high risk. In the high-risk group, NIPT can be offered if the ultrasound examination is normal and the risk is high due to maternal age or serum screening alone. The rate of invasive testing was not reduced in this selected population.

Conflicting umbilical artery Doppler findings in fetuses with trisomy 21.

OBJECTIVE: To assess differences between fetuses with isolated and non-isolated trisomy 21 in umbilical artery (UA) Doppler findings in the second and third trimester and to correlate those with placental histology. METHODS: Retrospective analysis of UA pulsatility index (PI) in 281 fetuses with trisomy 21. Cases were divided into isolated trisomy 21 (group I, n = 148, 52.7 %) and non-isolated trisomy 21 (group II, n = 133, 47.3 %). UA measurements were evaluated in five different time periods (A-E; <20 + 0 to ≥ 35 + 0 weeks) and were assigned histopathology of the placenta. RESULTS: In 118/281 (42 %) cases, UA measurement was abnormal. The frequency of PI values above the 95th percentile increased significantly with gestational age in both groups (period A 32.9 % vs. period E 63.6 %, p < 0.0001). There was neither a difference in abnormal UA PI values between isolated and non-isolated cases [37.8 % (56/148) vs. 46.6 % (62/133)] nor a correlation to placental findings. CONCLUSIONS: Fetuses with trisomy 21 often present with elevated UA PI in the late second or third trimester, irrespective of small for gestational age growth, malformations or histopathological findings of impaired placentation.