Search

To evaluate the outcome of first trimester intervention by intrafetal laser (IFL) in pregnancies complicated by twin reversed arterial perfusion (TRAP). For a 10-year study period, all patients with TRAP diagnosed 14.0 weeks of gestation were retrospectively analyzed for intrauterine course and outcome. Monoamniotic pregnancies were excluded. Patients were offered either intervention by IFL in the first trimester, expectant management, or termination of pregnancy (TOP). Adverse outcome was defined as either intrauterine death (IUD), neonatal death, or preterm birth. In 45 cases TRAP was diagnosed. 17 monoamniotics were excluded. The cohort was divided into two groups according to management. Group A: 24 cases underwent IFL and group B: 4 cases were managed expectantly. No patient opted for TOP. In group A, 70.8 % of pump twins were born alive, including one preterm delivery, and 29.2 % died within four days after the intervention. All 4 expectantly managed cases in group B had an adverse outcome (1 preterm delivery, 3 IUDs 15.0 weeks). There were no neonatal deaths. In cases treated by IFL, a comparison of survivors and non-survivors identified no significant differences in gestational age at IFL or any of the assessed biometrical and functional parameters. There was a trend towards better outcome in the second half of the study period. IFL in first trimester TRAP sequence is technically feasible but is associated with significant mortality, albeit less than previously reported. No risk stratification is possible using the investigated parameters. However, there seems to be a learning curve.ZIEL: Evaluation des Outcomes von Schwangerschaften mit Twin Reverse Arterial Perfusion (TRAP) nach intrafetaler Laserung (IFL) im 1. Trimester. Innerhalb einer 10-jährigen Studienperiode wurden alle TRAP-Sequenzen, diagnostiziert vor 14 + 0 SSW, hinsichtlich des intrauterinen Verlaufs und Outcomes retrospektiv evaluiert. Monoamniote Schwangerschaften wurden ausgeschlossen. Primäre Endpunkte waren intrauteriner Fruchttod (IUD), perinatale Mortalität und SSW bei Geburt. 45 TRAP-Sequenzen wurden diagnostiziert. 17 Monoamniote wurden ausgeschlossen. Die übrigen 28 Fälle wurden je nach Vorgehen in 2 Gruppen eingeteilt. Gruppe A: 24 Fälle mit IFL im 1. Trimester und Gruppe B: 4 Fälle mit exspektativem Management. Es erfolgte kein Schwangerschaftsabbruch (TOP). In Gruppe A wurden 70,8 % der Zwillinge lebend geboren (eine Frühgeburt), 29,2 % starben innerhalb von 4 Tagen nach Intervention. In Gruppe B hatten alle ein ungünstiges Outcome (1 Frühgeburt, 3 spontane IUD 15 + 0 SSW). Es gab keine neonatalen Todesfälle. Ein Vergleich Überlebender und Verstorbener bezüglich SSW bei Intervention sowie biometrischer und funktioneller Parameter ergab keine signifikanten Unterschiede. Lediglich die Analyse des Überlebens in Gruppe A, stratifiziert nach dem Jahr der Intervention, ergab einen Trend Richtung eines besseren Outcomes in der zweiten Hälfte des Studienzeitraums. IFL bei TRAP-Sequenz im 1. Trimester ist sinnvoll, aber mit einer signifikanten Mortalität behaftet, wenn auch geringer als vorbeschrieben. Eine Risikostratifikation anhand der untersuchten Parameter ist nicht möglich. Allerdings scheint es eine Lernkurve zu geben.

Aorto-left ventricular tunnel (ALVT) is an extremely rare, albeit prenatally detectable, extracardiac channel that connects the ascending aorta to the cavity of the left ventricle. All ALVTs diagnosed prenatally (2006-2020) in five tertiary referral centers were retrospectively assessed for prenatal ultrasound findings, intrauterine course, postnatal outcome, and surgical treatment. We focused on the size of the tunnel and alterations of perfusion of the left ventricular outflow tract and aortic arch. 11 fetuses were diagnosed with ALVT at a mean gestational age of 24.8 weeks. All cases were associated with severe dilatation of the left ventricle and a to-and-fro flow in the left outflow tract. Signs of congestive heart failure were present in five fetuses, four of which were terminated and one of which died in the neonatal period. One fetus died in utero at 34 weeks without prior signs of cardiac failure. Of the five survivors, two underwent the Ross procedure. In both cases the prenatal left ventricular outflow was exclusively via a large tunnel. The remaining three neonates underwent patch closure of the tunnel. In these cases, the prenatal outflow of the left ventricle was via the aortic valve and simultaneously over the tunnel. Prenatal diagnosis of ALVT should be considered in the presence of left ventricular hypertrophy, dilatation of the aortic root, and to-and-fro flow in the aortic outflow tract. Signs of heart failure are associated with an unfavorable outcome. Large tunnels, particularly in combination with the absence of flow over the aortic valve, may be an unfavorable predictor of surgical repair.ZIEL: Der aorto-links ventrikuläre Tunnel (ALVT) ist ein sehr seltener, aber pränatal diagnostizierbarer, extrakardialer Tunnel, der die Aorta ascendens mit dem linken Ventrikel verbindet. Retrospektive Analyse aller ALVT aus 5 Referenzzentren für Pränataldiagnostik (2006–2020) hinsichtlich pränataler Ultraschallbefunde, intrauterinem Verlauf, postnatalem Outcome und operativer Versorgung. Als potenziell prognostische Marker wurden die Größe des Tunnels und die Perfusionsparameter des Aortenbogens untersucht. Bei 11 Feten wurde ein ALVT diagnostiziert (Median 24,8 SSW). Alle Fälle zeigten eine linksventrikuläre Hypertrophie und einen Pendelfluss im linksventrikulären Ausflusstrakt. Fünf Feten hatten Zeichen einer Herzinsuffizienz; 4 dieser Schwangerschaften wurden abgebrochen und ein Neugeborenes verstarb nach Palliativtherapie. Ein Fet ohne Herzinsuffizienz-Zeichen verstarb intrauterin mit 34. SSW. Zwei der 5 überlebenden Kinder wurden mit einer Ross-Operation versorgt. In beiden Fällen erfolgte der pränatale linksventrikuläre Auswurf ausschließlich über einen großen Tunnel. Die anderen 3 Überlebenden erhielten einen Patch-Verschluss des ALVT. In diesen Fällen war der pränatale linksventrikuläre Ausfluss nicht nur über den Tunnel, sondern auch über die Aortenklappe vorhanden. Die pränatale Diagnose eines ALVT sollte bei linksventrikulärer Hypertrophie und Pendelfluss im linksventrikulären Ausflusstrakt vermutet werden. Herzinsuffizienz-Zeichen sind mit einem ungünstigen Outcome assoziiert. Große ALVT, insbesondere in Kombination mit fehlendem Auswurf über die Aortenklappe, verschlechtern die Korrekturoptionen.

To establish the prevalence of chromosomal aberrations in fetuses with an apparently isolated agenesis of the corpus callosum (ACC) on prenatal ultrasound. This was a retrospective study of complete isolated ACC at the time of ultrasound evaluation with respect to karyotype information. Within this group, a subgroup with non-malformation minor abnormalities, such as a single umbilical artery (SUA), polyhydramnios or fetal growth restriction (FGR), was investigated. Complete ACC was diagnosed in 343 cases. Of them, 143 (41.6 %) were isolated, with 16 fetuses showing additional minor findings. In 76.2 % (109/143) karyotyping was performed. Additional array CGH analysis was performed in 7.7 % (11/143). Chromosomal aberrations were found in 4.6 % (5/109) overall, in 3.1 % (3/98) of those without any additional sonographic findings (all represented mosaic trisomy 8) and in 18.2 % (2/11) of those with minor abnormalities. The prevalence of pathogenic submicroscopic copy number variant (CNV) was 9 % (1/11). Fetal karyotyping is recommended in ACC, as trisomy 8 mosaicism should be considered despite otherwise unremarkable ultrasound. The role of novel techniques such as array CGH and its implication has to be explored in prospective studies.ZIEL: Untersuchung der Prävalenz chromosomaler Aberrationen bei Feten mit pränatal sonographisch isolierter Agenesie des Corpus callosums (ACC). Retrospektive Analyse der Daten zur Karyotypisierung bei Feten mit Verdacht auf sonografisch isolierte komplette CCA. Als Untergruppe wurden die Daten von Feten mit milden (,minor’) Auffälligkeiten, wie singuläre Nabelschnurarterie, Polyhydramnion oder Wachstumsretardierung ausgewertet. Eine vollständige ACC wurde in 343 Fällen diagnostiziert. Hiervon waren 143 (41,6 %) isoliert, 16 dieser Feten zeigten milde Auffälligkeiten, jedoch keine Fehlbildungen. Informationen zum Karyotyp waren in 76,2 % (109/143) verfügbar. Eine zusätzliche Array CGH Analyse wurde in 7,7 % (11/143) durchgeführt. Insgesamt zeigten 4,6 % (5/109) der Feten chromosomale Auffälligkeiten, davon 3,1 % (3/98; alle mit Mosaik Trisomie 8) in der Gruppe der isolierten ACC und 18,2 % (2/11) in der Untergruppe mit „minor“ Anomalien. Die Prävalenz von pathogenen submikroskopischen Copy Number Variationen (CNV) lag bei 9 % (1/11). Eine Karyotypisierung ist auch bei Verdacht auf sonografisch isolierte ACC empfohlen, da trotzdem eine Mosaik-Trisomie 8 vorliegen kann. Der Einsatz neuerer genetischer Methoden wie Array CGH und deren Wertigkeit muss in weiteren prospektiven Studien untersucht werden.

To assess the anatomic variants, associated anomalies and postnatal outcome of fetuses with a prenatally diagnosed agenesis of ductus venosus (ADV). Retrospective study of 119 cases with agenesis of ductus venosus diagnosed by prenatal ultrasound in two tertiary referral centers from 2006 to 2014. The type and location of the umbilical venous drainage site was noted. Charts were reviewed for associated structural or chromosomal anomalies, pregnancy outcome and postnatal course. In 24 cases (20.2 %) ADV was an isolated finding, while 95 cases (79.8 %) had associated anomalies. We identified 84 cases (70.6 %) with intrahepatic and 35 cases (29.4 %) with extrahepatic drainage of the umbilical vein. 58.8 % of neonates were alive at follow-up. There was no statistical association between drainage site and associated anomalies or outcome. Postnatal outcome was determined by the presence and severity of associated anomalies. There was no adverse outcome in the isolated group related to ADV. Overall, there were 6 persistent portosystemic shunts, 3 of them with a spontaneous closure, and one total agenesis of the portal venous system with lethal outcome. Postnatal outcome in cases with ADV mainly depends on the presence of associated anomalies. In isolated cases the prognosis is generally good, but neonates with a prenatally diagnosed portosystemic shunt should be followed until its occlusion. Portal venous system agenesis is rare but should be ruled out on prenatal ultrasound.ZIEL: Beschreibung der anatomischen Varianten, Begleitfehlbildungen und des postnatalen Outcomes von Feten mit einer pränatal diagnostizierten Ductus venosus-Agenesie (ADV). Retrospektive Analyse von 119 Fällen mit pränataler sonografischer Diagnose einer Ductus venosus-Agenesie an zwei tertiären Pränatalzentren zwischen 2006 und 2014. Beschreibung von Art und Lokalisation der Drainage der Vena umbilicalis sowie begleitender struktureller oder chromosomaler Anomalien, Schwangerschaftsausgang und postnatalem Verlauf. In 24 Fällen (20,2 %) war die ADV isoliert und in 95 Fällen (79,8 %) zeigten sich weitere Auffälligkeiten. 84 Fälle (70,6 %) wiesen einen intrahepatischen und 35 Fälle (29,4 %) einen extrahepatischen Shunt der Vena umbilicalis auf. 58,8 % der Kinder lebten zum Zeitpunkt der Datenerhebung. Es zeigte sich kein statistisch signifikanter Zusammenhang zwischen Typ der Drainage, Begleitfehlbildungen und Outcome. Der postnatale Verlauf wurde von Vorhandensein und Schwere der Begleitfehlbildungen bestimmt, in der Gruppe mit isolierter ADV gab es keine direkten Todesfälle. Insgesamt gab es 6 persistierende portosystemische Shunts, 3 davon verschlossen sich spontan. Ein Kind verstarb an den Folgen einer totalen portalen Agenesie. Der postnatale Verlauf wird bei ADV überwiegend vom Vorhandensein von assoziierten Anomalien bestimmt. In isolierten Fällen ist die Prognose gut, Neonaten mit pränatal diagnostiziertem portosystemischem Shunt sollten allerdings bis zu dessen Verschluss nachbeobachtet werden. Eine portale Agenesie ist selten, sollte aber beim pränatalen Ultraschall ausgeschlossen werden.

Purpose To assess the spectrum of associated anomalies, the intrauterine course, the outcome and possible prognostic markers in prenatally diagnosed Ebstein’s anomaly (EA). Materials and Methods All cases of EA diagnosed over a period of 13 years with a minimum follow-up of 1 year were retrospectively collected in 4 tertiary referral centers in Germany. Results In the study period 76 cases of EA were prenatally diagnosed. The mean gestational age at diagnosis was 25.0 weeks (range: 13 – 35). 41 (53.9 %) cases were isolated and 35 (46.1 %) had other cardiac and/or extracardiac anomalies. 19 (25.0 %) pregnant women opted for termination of pregnancy, intrauterine fetal death occurred in 7 cases (9.2 %), neonatal death in 14 cases (18.4 %), death in infancy or childhood in 9 cases (11.8 %) and 27 children (35.5 %) were alive at the last follow-up. After exclusion of terminations, the only parameter inversely correlated with intrauterine survival was hydrops fetalis. Prognostic parameters significantly associated with postnatal non-survival were an abnormal Celermajer index (right atrium/heart ratio > 0.7), cardiomegaly (cardiothoracic circumference ratio > 0.5), absence of antegrade flow over the pulmonary valve and earlier diagnosis in pregnancy. Conclusion Prenatally diagnosed EA has a high morbidity and mortality with the highest loss rate in the intrauterine and neonatal period. In our study, hydrops fetalis was the only parameter significantly associated with intrauterine demise, while other prenatal markers were only significantly associated with postnatal mortality.

Objective: To assess predictors for survival and complications among a relatively large cohort of fetuses with hydrothorax treated by thoracoamniotic shunting. Methods: All cases with hydrothorax treated by thoracoamniotic shunting in a 10-year period (2002-2011) in two centers were retrospectively reviewed. Results: A total of 78 fetuses with hydrothorax treated with thoracoamniotic shunting were included in the study. Mean gestational age at diagnosis was 25.6 weeks (12-34 weeks). Initial thoracoamniotic shunting was performed at a mean gestational age of 26.5 weeks (16-33 weeks). A mean of 2.53 shunts (1-7) were inserted per fetus. Of the 78 fetuses, 9 (11.5%) died in utero, 69 (88.5%) were born alive and 46 (59%) survived. Prognostic markers significantly associated with nonsurvival were polyhydramnios, hydrops placentae and mediastinal shift at initial scan, onset of hydrops after first shunt placement, rupture of membranes, a shunt-birth interval Conclusions: Although associated with a significant rate of repeated interventions, thoracoamniotic shunting in fetuses with severe hydrothorax results in an overall survival rate of 59%. Fetuses with hydrothorax and trisomy 21 have a better survival when compared to euploid fetuses.

PURPOSE: To investigate the impact of the a priori attitude, nondirective counselling and targeted second trimester ultrasound examination on the decision process concerning invasive prenatal diagnosis in the second trimester. MATERIAL AND METHODS: A prospective study including 696 high-risk pregnancies at 15 to 18 weeks’ gestation, performed from 2005 - 2007. Attitudes towards invasive prenatal testing were explored before and after genetic counselling and targeted ultrasound examination in a tertiary referral centre. RESULTS: Initially, 311 (44.7 %) women intended to have an invasive testing (group 1), 150 women (21.5 %) were against an invasive procedure (group 2), and 235 women (33.8 %) wanted to make their final decision depending on the sonographic result (group 3). The total rate of amniocentesis was 87.1 %, 5.3 % and 13.6 %, respectively. Overall, the a priori decision was sparsely influenced by the ultrasound examination. Only 12.9 % (40 / 311) and 5.3 % (8 / 150) of the primarily determined women (group 1, 2) changed their opinion. However, in the initially undecided group, 86.7 % declined an amniocentesis after a normal ultrasound scan. CONCLUSION: The referral indication and the a priori opinion are the strongest influencing factors with regard to invasive testing and the ultrasound scan has a low impact in those preselected patients. However, ultrasound has an important reassuring aspect in women willing to use ultrasound as assistance in the process of decision making.

PURPOSE: To evaluate the associated conditions and the outcome of atrioventricular septal defects (AVSD) detected in fetal life. MATERIALS AND METHODS: Retrospective review of all cases of AVSD detected prenatally between 1998 and 2006 in two tertiary referral centers in Germany. RESULTS: 246 cases of AVSD were detected in the study period: 129 (52.4 %) chromosomal anomalies; 72 (29.3 %) heterotaxy syndromes; 17 (6.9 %) non-chromosomal malformation syndromes; 16 (6.5 %) isolated complex cardiac malformations; 5 (2.0 %) singular extracardiac malformations; 7 (2.8 %) isolated AVSD. Chromosomal anomalies were detected significantly earlier in pregnancy (p < 0.01). Associated intracardiac malformations were present in 109 / 246 (44.3 %) cases. Fetuses with trisomy 21 were significantly associated with balanced ventricular morphology and isolated AVSD (p < 0.01). Among the 246 cases, 144 (58.5 %) underwent termination of pregnancy, 18 (7.3 %) died in utero, 17 (6.9 %) in the neonatal period and 19 (7.7 %) in infancy. Forty-eight children (19.5 %) survived with a mean follow-up of 34.94 ± 18.6 months. After exclusion of lethal malformations, the survival rate among live births was 64.9 % (48 / 74). Fetuses with trisomy 21 had significantly better survival rates among continued pregnancies (p < 0.01) and significantly higher rates of successful biventricular repair among survivors who received their final corrective procedure (p < 0.01) than fetuses with normal karyotypes. CONCLUSION: Among fetuses with AVSD, those with trisomy 21 are detected earlier in pregnancy, have less distorted cardiac anatomy, higher rates of biventricular repair and better survival rates. Due to the limited sample size in euploid fetuses, it remains unclear whether this apparent protection afforded to Down syndrome accounts also for cohorts with isolated and balanced AVSD.

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.