R. Stressig

Right- versus left-sided congenital diaphragmatic hernia: postnatal outcome at a specialized tertiary care center.

Objective: To systematically investigate the impact of the location of the defect in congenital diaphragmatic hernia on neonatal mortality and morbidity with a special focus on survival at discharge, extracorporeal membrane oxygenation requirement, and the development of chronic lung disease. Design: Retrospective tertiary care center study with a matched-pair analysis of all fetuses that were treated for congenital diaphragmatic hernia between 2004 and 2009. Setting: A specialized tertiary care center for fetuses with congenital diaphragmatic hernia. Patients: Complete sets of data were available for 106 patients with congenital diaphragmatic hernia. For 17 of 18 infants with right-sided congenital diaphragmatic hernia we were able to allocate infants with left-sided congenital diaphragmatic hernia with no relevant difference in previously described prognostic factors, such as pulmonary hypoplasia and liver herniation. Interventions: None. Measurements and Main Results: There was a strong trend toward better survival in infants with right-sided congenital diaphragmatic hernia than with left-sided congenital diaphragmatic hernia (94% vs. 70%; p = .07). More neonates with left-sided congenital diaphragmatic hernia died of severe pulmonary hypertension despite extracorporeal membrane oxygenation. Fewer neonates with right-sided congenital diaphragmatic hernia died, yet higher degrees of pulmonary hypoplasia and oxygen requirement were observed despite extracorporeal membrane oxygenation. Conclusions: In congenital diaphragmatic hernia, the location of the defect has a substantial impact on postnatal survival and the development of chronic lung disease. In left-sided congenital diaphragmatic hernia, pulmonary hypertension resistant to therapeutic management, including extracorporeal membrane oxygenation, is more common and is associated with a higher rate of neonatal demise. Right-sided congenital diaphragmatic hernia infants have an increased benefit from extracorporeal membrane oxygenation but the better survival entails a higher rate of chronic lung disease.

Preferential streaming of the ductus venosus and inferior caval vein towards the right heart is associated with left heart underdevelopment in human fetuses with left-sided diaphragmatic hernia

Objective Left heart underdevelopment is commonly observed in fetuses with left diaphragmatic hernia. This finding has been attributed to compression of the left atrium by herniated abdominal organs, redistribution of fetal cardiac output and/or low pulmonary venous return. As preferential right or left heart underdevelopment is usually not a feature of right diaphragmatic hernia, we searched for an alternative mechanism. Since in normal fetuses the major fraction of left heart filling is provided by the ductus venosus via the inferior caval vein and oval foramen, our study focused in particular on the streaming direction of these structures. Patients and methods We prospectively studied 32 fetuses with left diaphragmatic hernia between 19+6 weeks and 38+6 weeks of gestation by echocardiography. The fetuses were divided into two groups: Group I fetuses exhibited abnormal streaming of ductus venosus and inferior caval vein blood flow towards the right side of the heart; group II fetuses did not exhibit this abnormal flow direction. Cardiac inflow and outflow dimensions were compared in the two groups. Results 18 of 19 group I fetuses with left diaphragmatic hernia exhibited disproportionately smaller left than right heart dimensions; 12 of 13 group II fetuses exhibited similar sized left and right cardiac inflow and outflow dimensions (p<0.05). Conclusions Preferential ductus venosus and inferior caval vein streaming towards the fetal right heart offers another haemodynamic mechanism for left heart underdevelopment in fetuses with left diaphragmatic hernia. The pathoanatomical basis of this abnormal flow pattern results from intrathoracic abdominal organ herniation and rightward displacement of the heart.

Percutaneous fetoscopic laser decompression of congenital high airway obstruction syndrome (CHAOS) from laryngeal atresia via a single trocar--current technical constraints and potential solutions for future interventions

Objective: To alleviate congenital high airway obstruction syndrome (CHAOS) from laryngeal atresia by percutaneous minimally-invasive fetoscopic tracheal decompression using laser. Methods: The procedure was performed via one trocar under general maternofetal anesthesia in a human fetus with CHAOS from laryngeal atresia at 21+6 weeks of gestation. Results: Normalization of the lung-heart size relationship was observed within days after the procedure. The fetus was delivered by ex utero intrapartum treatment (EXIT) in order to perform a tracheotomy at 31+1 weeks of gestation and survived hospital treatment to discharge. Conclusions: Percutaneous minimally-invasive fetoscopic decompression of the fetal trachea via a single trocar is feasible in human fetuses with CHAOS from laryngeal atresia.

Maternal haemodynamics and lung water content during percutaneous fetoscopic interventions under general anaesthesia

BACKGROUND The purpose of our study was to evaluate the maternal cardiopulmonary function and lung water content during percutaneous fetoscopic interventions under general maternal-fetal anaesthesia and continuous tocolytic medication. METHODS We prospectively studied 13 women between 19 and 30 weeks of gestation undergoing percutaneous fetoscopic procedures that were performed under general maternal-fetal anaesthesia and tocolysis using indomethacin. Invasive haemodynamic monitoring using pulmonary artery catheters and the transpulmonary indicator dilution technique was applied to determine intrathoracic blood volume (ITBV), cardiac output, and extravascular lung water (EVLW). Pulmonary vascular permeability was estimated as the ratio of EVLW/ITBV. Measurements were performed during and for 24 h after the interventions. RESULTS Respective mean (SD) maternal ITBV and cardiac output were 894 (191) ml min(-1) m(-2) and 3.29 (0.51) litre(-1) min(-1) m(-2) intraoperatively, and 843 (169) ml min(-1) m(-2) and 4.47 (0.55) litre min(-1) m(-2) during the first postoperative day. EVLW was 7.9 (2.7) ml kg(-1) during the interventions and 7.7 (1.8) ml kg(-1) during the first postoperative day. The pulmonary vascular permeability index was calculated as 0.35 (0.06) during the interventions and 0.38 (0.14) for the first postoperative day. Clinically overt pulmonary oedema was not detected in any woman while pulmonary gas exchange remained normal. CONCLUSIONS In mid-gestational women undergoing percutaneous fetoscopic interventions under general maternal-fetal anaesthesia, cardiopulmonary function remained stable. However, a moderate increase in EVLW and pulmonary vascular permeability indicates an increased risk for maternal pulmonary oedema.

Intrathoracic herniation of the liver (‘liver‐up’) is associated with predominant left heart hypoplasia in human fetuses with left diaphragmatic hernia

Left heart hypoplasia is commonly observed in fetuses with left diaphragmatic hernia. Because in this condition intrathoracic herniation of the liver serves as an important predictor for postnatal disease severity, we studied its potential association with left heart hypoplasia.

Prenatal Sonographic Findings in Trisomy 22 Five Case Reports and Review of the Literature

The purpose of this study was to survey prenatal sonographic findings and their frequencies in fetuses with complete trisomy 22 and to identify potential sonographic markers of this aneuploidy.

Screening for chromosomal abnormalities by first trimester combined screening and noninvasive prenatal testing.

PURPOSE To examine combined first trimester screening (FTS), noninvasive prenatal testing (NIPT) and a two-step policy that combines FTS and NIPT in screening for aneuploidy. MATERIALS AND METHODS Retrospective study involving 21,052 pregnancies where FTS was performed at the Praxis Praenatal.de in Duesseldorf, Germany. In each case, the sum risk of trisomy 21, 18 and 13 was computed. We assumed that NIPT detects 99 %, 98 %, 90 % and 99 % of cases with trisomy 21, 18, 13 and sex chromosomal abnormalities and that the false-positive rate is 0.5 %. The following screening policies were examined: NIPT or FTS with sum risk cut-offs of 1 in 50 and 1 in 250 in all patients or a two-step-policy with FTS in all patients followed by NIPT in the intermediate sum risk group. For the intermediate risk group, sum risk cut-offs of 1 in 50 and 1 in 1000 and 1 in 150 and 1 in 500 were used. RESULTS There were 127, 34, 13 and 15 pregnancies with trisomy 21, 18, 13 and sex chromosomal abnormalities. 23 fetuses had other chromosomal abnormalities with an increased risk for adverse outcome that are not detectable by NIPT. 20,840 pregnancies were classified as normal as ante- and postnatal examinations did not show any signs of clinically significant chromosomal abnormalities. FTS with a sum risk cut-off of 1 in 50 and 1 in 250 detects 81 % and 91 % for all aneuploidies. NIPT detects 88 % of the respective pregnancies. The 2-step approach with sum risk cut-offs of 1 in 50 and 1 in 1000 detects 94 % of all aneuploidies. With sum risk cut-offs of 1 in 150 and 1 in 500, the detection rate is 93 %. CONCLUSION A 2-step policy with FTS for all patients and NIPT in the intermediate risk group results in the highest detection rate of all aneuploidies.

Fetal Renal Insufficiency Following Trastuzumab Treatment for Breast Cancer in Pregnancy: Case Report und Review of the Current Literature

Some drugs are known for their fetal nephrotoxicity and should be avoided during pregnancy. We report on a pregnant woman suffering from breast cancer who received a weekly neoadjuvant trastuzumab (Herceptin®) therapy from 15 weeks of gestation onward, in addition to a 3-weekly carboplatin/docetaxel chemotherapy. Fetal renal insufficiency with anhydramnios and missing visualization of the fetal bladder developed at 21 weeks. After discontinuation of trastuzumab and repeated instillation of amniotic fluid, the amount of amniotic fluid remained stable after 24 weeks of gestation. After caesarean section at 34 weeks because of fetal growth restriction, the renal function of the neonate was normal postnatally. In accordance with the current literature, our case shows a reversible adverse effect of trastuzumab on the fetal renal function and confirms the current recommendation that trastuzumab in pregnancy should be avoided. In pregnancies exposed to trastuzumab, treatment should be discontinued and the fetus should be closely monitored, with particular attention to the amniotic fluid and the fetal bladder volume, as these reflect fetal renal function.

Prenatal diagnosis of tricuspid atresia: intrauterine course and outcome

To evaluate the intrauterine course and outcome of tricuspid atresia detected in the fetus.

Life-saving effects of fetal tracheal occlusion on pulmonary hypoplasia from preterm premature rupture of membranes.

BACKGROUND: Preterm premature rupture of membranes before 22 weeks of gestation may result in severe fetal pulmonary hypoplasia. Fetoscopic tracheal balloon occlusion might result in catch-up pulmonary growth. CASE: After preterm premature rupture of membranes at 16 weeks of gestation, magnetic resonance imaging at 26 0/7 weeks showed a fetal lung volume of 13 mL and pulmonary blood flow hardly could be detected. Fetoscopic tracheal balloon occlusion was performed at 27 6/7 weeks; within 6 days, fetal lung volume increased to 70 mL and lung blood flow normalized. The fetus was delivered electively at 28 6/7 weeks. Six hours after delivery, the neonate required only 21% oxygen and was extubated after 55 hours. CONCLUSION: Short-term fetoscopic tracheal balloon occlusion may result in rapid normalization of fetal lung volume and blood flow in fetuses with life-threatening pulmonary hypoplasia from preterm premature rupture of membranes before 22 weeks of gestation.