Astrid Hellmund

Prenatal Diagnosis and Evaluation of Sonographic Predictors for Intervention and Adverse Outcome in Congenital Pulmonary Airway Malformation

Objective To describe antenatal findings and evaluate prenatal risk parameters for adverse outcome or need for intervention in fetuses with congenital pulmonary airway malformation (CPAM). Methods In our retrospective study all fetuses with a prenatal diagnosis of CPAM detected in our tertiary referral center between 2002 and 2013 were analyzed. Sonographic findings were noted and measurements of mass-to-thorax-ratio (MTR), congenital pulmonary airway malformation volume-ratio (CVR) and observed to expected lung-to head-ratio (o/e LHR) were conducted and correlated to fetal or neonatal morbidity and mortality and/or need for prenatal intervention. Results 67 fetuses with CPAM were included in the study. Hydropic fetuses were observed in 16.4% (11/67) of cases, prenatal intervention was undertaken in 9 cases; 7 pregnancies were terminated. The survival rate of non-hydropic fetuses with conservatively managed CPAM was 98.0% (50/51), the survival rate for hydropic fetuses with intention to treat was 42.9% (3/7). 10 (18.2%) children needed respiratory assistance. Fetuses with a CVR of <0.91 were significantly less likely to experience adverse outcome or need for prenatal intervention with sensitivity, specificity and positive/negative predictive value of 0.89, 0.71, 0.62 and 0.93, respectively. A MTR (mass-to-thorax-ratio) of < 0.51 had a positive predictive value of 0.54 and a negative predictive value of 0.96 of adverse events with a sensitivity of 0.95 and a specificity of 0.63. The negative predictive value for o/e LHR of 45% was 0.84 with sensitivity, specificity and positive predictive value of 0.73, 0.68 and 0.52, respectively. Conclusions The majority of cases with CPAM have a favorable outcome. MTR and CVR are able to identify fetuses at risk, the o/e LHR is less sensitive.

Large Fetal Pulmonary Arteriovenous Malformation Detected at Midtrimester Scan with Subsequent High Cardiac Output Syndrome and Favorable Postnatal Outcome

Prenatal diagnosis of pulmonary arteriovenous malformations (PAVM), caused by abnormal communications between pulmonary arteries and pulmonary veins, is rarely described. We report a case of a PAVM between the right pulmonary artery and the left atrium, referred to our prenatal unit at 22 + 1 weeks of gestation, with severe cardiomegaly, dilation of the right pulmonary artery and a right pulmonary vein and retrograde flow in the ductus arteriosus. The fistula was located in the right lung and showed a broad, disturbed flow at color Doppler with high velocity and low pulsatility. The fetus was monitored weekly and cardiac function remained sufficient until 36 + 1 weeks of gestation, when increasing cardiomegaly prompted delivery by cesarean section. The newborn was transferred to the neonatal intensive care unit, intubated and the fistula was surgically removed. The boy could be discharged at the 43rd day of life and showed an uneventful course until the last follow-up at the age of 4 years, with no residual mental or physical handicaps and a normal cardiac function. Despite adverse outcomes described in previously reported cases of large PAVM complicated by severe cardiomegaly at midtrimester scan, our case had a good outcome.

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

To assess the spectrum of associated anomalies, intrauterine course and outcome in fetuses with absent pulmonary valve syndrome (APVS).

Levoatrial Cardinal Vein in a Series of Five Prenatal Cases with Hypoplastic Left Heart Syndrome and Intact Atrial Septum.

Purpose The rare finding of a levoatrial cardinal vein (LACV) represents a pulmonary-systemic connection providing an alternative egress from the left atrium for pulmonary venous blood in fetal cardiac malformations with severe left heart obstruction and intact atrial septum (IAS). The purpose of the study was the description of the various sonographic and Doppler findings, the peripartal management and neonatal outcome of this rare cardiovascular anomaly. Materials and Methods Retrospective review of 53 967 echocardiograms in our fetal database between 2002 and 2013 for cases with an LACV. The various sonographic findings of the LACV, the associated cardiac findings and the perinatal management were assessed. Results The presence of a decompressing LACV was documented in 5/27 (18.5 %) of all fetuses with hypoplastic left heart syndrome and intact atrial septum. All five fetuses were diagnosed with an LACV originating from the left atrium and draining either into the innominate vein (two cases), the azygos vein (one case), or directly into the vena cava superior (two cases). Elevated pressure in the pulmonary veins was present in the three cases with obstruction of the LACV. Two pregnancies were terminated, two neonates received compassionate care and one neonate died despite atrioseptectomy. Conclusion LACV in the presence of HLHS and IAS is a rare condition with various forms of pathway and degree of obstruction and generally has an unfavorable prognosis. The presence of obstruction can be diagnosed by spectral Doppler of the LACV. Therefore, in cases of HLHS and IAS, careful sonographic evaluation for aberrant vessels is mandatory.

Early Intrauterine Transfusion in Fetuses with Severe Anemia Caused by Parvovirus B19 Infection

Objective: To describe procedure-related complications and perinatal survival after intrauterine transfusion (IUT) before 20 weeks of gestation in fetuses with severe anemia due to human parvovirus B19 infection. Materials and Methods: A retrospective study was conducted of all fetuses requiring IUT before 20 weeks of gestation in two tertiary referral centers between January 2002 and July 2015. Gestational age (GA) at first IUT, fetal blood sampling results, and presence of hydrops were related to procedure-related complications, fetal death (FD), and perinatal outcome. Results: A total of 93 IUTs was performed on 55 fetuses. The mean GA at first IUT was 16+6 (13+0-19+6) weeks. FD occurred in 11 (20.0%) of the 55 fetuses. Overall survival was 80.0% (44/55). Hydrops was present in 38.2% (21/55) and was strongly associated with FD (p = 0.001). There was no difference with regard to FD, hydrops, or hemoglobin concentration at first IUT in fetuses with transfusion before or after 16+0 weeks. Conclusion: Severe anemia due to parvovirus B19 infection in the early second trimester can be treated successfully by IUT before 20 weeks of gestation in specialized centers with sufficient expertise.

Prenatal diagnosis of absent pulmonary valve syndrome from the 1(st) trimester onward: novel insights into pathophysiology, associated conditions and outcome of a rare cardiac defect.

To assess the spectrum of associated anomalies, intrauterine course and outcome in fetuses with absent pulmonary valve syndrome (APVS).

OC14.05: Comparison of fetal outcome in lower urinary tract obstruction treated with the Harrison® vs Somatex® vesicoamniotic shunt <17+0 weeks

Objectives: Reports on the effects of CO2 gas on human development are lacking. This information is relevant considering the advantages of fetoscopic NTD repair (Fetosc.) technique. Aims: 1) Assess the incidence of brain abnormalities after prenatal NTD repair; 2) Compare the incidence of brain abnormalities between open vs. fetoscopic repair. Methods: Longitudinal retrospective cohort study of 57 fetuses that underwent prenatal NTD repair (27 Fetosc. and 30 Open). Presurgery MRIs were obtained in all cases and 6 weeks postsurgery in 54 cases (26 Fetosc. vs. 28 Open). At 1 year, MRI scans from 22 open and 16 fetoscopic repaired infants were reviewed. A detailed assessment of all scans was performed. Results: GA at surgery, GA and age at MR scans were similar between groups. Hindbrain herniation (HBH) (all cases), ventricular dilation (Open:11±3 mm vs. Fetosc:11.4±3mm p=0.28), 4th ventricle effacement (Open:93% vs. Fetosc:93% p=0.1), callosal anomalies (Open:50% vs. Fetosc:41% p=0.5) and tectal beaking (Open:67% vs. Fetosc:70% p=0.8) were the most common findings detected prior to surgery. On follow-up scans, increase in ventricular dilation (6 weeks’ post-op: Open:15±6mm vs. Fetosc:16±4mm p=0.5; postnatal: Open:23±8 vs. Fetosc:27±11mm p=0.3), detection of callosal anomalies (6 weeks post-op: Open:57% vs. Fetosc:54% p=0.59; postnatal: Open:82% vs. Fetosc:75% p=0.69) and nodular heterotopia (presurgery: Open:3% vs. Fetosc:0% p=1.0; 6 weeks post-op: Open:11% vs. Fetosc:12% p=1.0; postnatal: Open:32% vs. Fetosc:19% p=0.36) were more common. Reversal of HBH was seen in 71% of the open and 58% of the fetoscopic cases after surgery. No signs of ischemia, parenchymal calcifications or cysts were detected in any scans. No differences in the incidence of brain anomalies were seen between groups. Conclusions: NTD is associated with brain abnormalities that are detected before and after prenatal repair, independently of the repair technique used. These results support the safety of CO2 exposure for prenatal NTD repair as it is not associated with detectable structural changes after surgery.

Prenatal Diagnosis of Agenesis of Ductus Venosus: A Retrospective Study of Anatomic Variants, Associated Anomalies and Impact on Postnatal Outcome

PURPOSE  To assess the anatomic variants, associated anomalies and postnatal outcome of fetuses with a prenatally diagnosed agenesis of ductus venosus (ADV). MATERIALS AND METHODS  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. RESULTS  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. CONCLUSION  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.

Reply on: Comment on: Hellmund et al. Rupture of renal artery aneurysm during late pregnancy: clinical features and diagnosis. Arch Gynecol Obstet. 2016;293:505–8

We thank Dr. Greco and colleagues for their interest and adding of valuable information to our paper. As the authors stated, there is a considerable lack of evidence for the optimal treatment of ruptured renal artery aneurysms during pregnancy. Available data are based on case reports as included in our study. We agree with Dr. Greco and colleagues that whether identified renal artery aneurysms during pregnancy should be treated by surgery or by careful surveillance remains unclear, for the current management of renal artery aneurysms does not include the higher risk of rupture in pregnant women. Moreover, renal artery aneurysms are rarely detected in pregnant women, and the life-threatening event of sudden rupture occurs unpredictably. We are grateful for adding the results of the large retrospective study of Buck et al., which was published more lately than our paper, illustrating the equal rate for inhospital mortality regarding 1627 cases of open surgery and 1082 elective endovascular repairs. However, the question whether endovascular repair or open surgery, including heterotopic and orthotopic kidney transplant, should be considered the first line in pregnant women and if the risk of losing the kidney after a trial of endovascular repair is much larger cannot be answered yet, and further studies are mandatory. To our opinion, the first line therapy in cases of ruptured renal artery aneurysms in pregnancy should be dependent on the availability of an experienced team of endovascular surgeons/radiologists in the attending unit and can be considered in cardiovascular stable patients.

Re: Horizontal stomach as a new sonographic clue to antenatal diagnosis of right diaphragmatic hernia.

We read with great interest and appreciation the article by Conturso et al. regarding horizontal stomach as a new sonographic clue to the antenatal diagnosis of right-sided congenital diaphragmatic hernia (CDH)1. In order to confirm the position of the stomach as a new marker for right-sided CDH, we retrospectively analyzed the 14 cases among 47 cases of CDH referred to our tertiary fetal medicine center between 2001 and 2012. The position of the stomach was evaluated in the transverse view of the fetal abdomen, in which the abdominal circumference is measured routinely. In all 14 cases, the liver had herniated into the thorax. In three cases, the stomach was herniated into the thorax. Three cases were excluded because of insufficient documentation of the stomach, although the report of gastrointestinal organs was unremarkable. In seven cases, the stomach could be visualized in a normal left-sided and vertical position. In the last case the stomach was observed in a horizontal and, later in the same examination, in a normal left-sided position. None of the cases was referred to us in the first trimester; the mean gestational age at first presentation was 27 (range, 21 + 0 to 31 + 3) weeks. Thus, in our group of 14 fetuses with right-sided CDH we could not confirm a tendency for horizontal position of the stomach. Only one case presented with a transient horizontal stomach, which could be visualized in normal left-sided position a few minutes later. We hypothesize that the horizontal position of the stomach in right-sided CDH might be a transient and dynamic sign due to stretching of the hepatogastric ligaments determined by the rising of viscera through the diaphragm followed by sliding of the connected stomach. By the time of diagnosis of right-sided CDH, later in pregnancy, this sign might have disappeared because of either total herniation of the stomach into the thorax or increasing relaxation of the ligaments, with the stomach remaining in a normal left-sided and vertical position. However, our retrospectively analyzed group of cases of right-sided CDH was small; larger samples should be examined at different points in gestation in order to evaluate this further.