Amniotic fluid embolism-associated coagulopathy: a single-center observational study

Introduction Amniotic fluid embolism (AFE) continues to be a rare, enigmatic condition with high maternal mortality. It is characterized by cardiovascular compromise, loss of consciousness or other neurologic symptoms, and coagulopathy. The latter is usually treated according to existing protocols for consumptive coagulopathy. Methods Serial analyses of a panel of hemostaseological parameters were performed in three consecutive cases of AFE that occurred at our institution. Results All mothers and neonates survived without major sequelae. Disproportionately low levels of fibrinogen and factor five, and exorbitantly elevated d-dimers were present in all cases, whereas markers of consumptive coagulopathy, platelets and antithrombin in particular, were only slightly reduced. Discussion Our results support hyperfibrinolysis as contributing factor of AFE-associated coagulopathy. We, therefore, propose a treatment algorithm which includes early use of tranexamic acid and transfusion of red blood cells and fresh frozen plasma, adding fibrinogen if hemostasis is not readily achieved

Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases

Fetal akinesia deformation sequence (FADS) is a clinically and genetically heterogenous disorder. In this study, the different sonographic abnormalities are described in a larger number of affected fetuses. This retrospective study included 79 cases of suspected FADS observed in our tertiary referral center between January 2001 and February 2015. Electronic stored reports and images of the examination were reviewed as well as autopsy reports and pediatric charts. In the study population (mean gestational age 23 + 4 weeks) consanguinity, multiple miscarriages or positive family history were present in 31.6 % of cases. Abnormalities of the facial profile (58.3 %) and ankle joint (83.6 %) were detected in the majority of cases. Contractures variably involved knee-, ankle-, wrist- and elbow joint and fingers with no distinct patterns. Additional malformations, most commonly of the brain, were found in 44.3 % of cases. Diagnosis before 20 weeks was associated with nuchal edema in 62.5 and hydrops in 31.3 %. In fetuses evaluated later than 24 weeks, IUGR, increased amniotic fluid or thorax hypoplasia were diagnosed, in 31, 58.8 and 37.9 %, respectively. Termination of pregnancy was requested in 86.1 %, 11 (13.9 %) children were live born. No underlying genetic cause was established, but in one asymptomatic mother myasthenia gravis was revealed. Fetal akinesia presents with heterogeneous sonographic findings, mostly affecting the profile, elbow-, knee-, ankle joint, wrists and fingers; in most of cases of sporadic nature. Whereas hydrops fetalis and nuchal edema were earlier signs, thorax hypoplasia, polyhydramnios and IUGR were found later in pregnancy

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. (C) 2017 S. Karger AG, Base

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

Prenatal Diagnosis, Associated Findings, and Postnatal Outcome in Fetuses with Double Inlet Ventricle (DIV)

Purpose To assess the spectrum of associated cardiac anomalies, the intrauterine course, and postnatal outcome of fetuses with double inlet ventricle (DIV). Methods Retrospective analysis of prenatal ultrasound of 35 patients with DIV diagnosed between 2003 and 2021 in two tertiary referral centers in Germany. All fetuses underwent fetal echocardiography and a detailed anomaly scan. Postnatal outcome and follow-up data were retrieved from pediatric reports. Results 33 cases of DIV were correctly diagnosed prenatally. 24 fetuses (72.7%) had a double inlet ventricle with dominant left (DILV), 7 (21.2%) with dominant right ventricular morphology (DIRV), and 2 cases (6%) with indeterminate morphology (DIIV). 4 (16.6%) were Holmes hearts. 5 of the 7 fetuses (71.4%) with DIRV had a double outlet right ventricle (DORV). Malposition of the great arteries was present in 84.8%. Chromosomal abnormalities were absent. Termination of pregnancy was performed in 8 cases (24.2%). 24 fetuses (72.7%) were live-born. 5 (20.8%) were female and 19 (79.2%) were male. The median gestational age at birth was 38+2.5 weeks. All but one child received univentricular palliation. The median follow-up time was 5.83 years with an adjusted survival rate of 91.6% (22 of 24 live-born children). There was one case of Fontan failure at 15.7 years. Conclusion DIV remains a major cardiac malformation although both prenatal diagnostics and cardiac surgery have improved over the years. The course of pregnancy is commonly uneventful. All children need univentricular palliation. The children are slightly physically limited, develop a normal intellect, and attend school regularly

Termination of pregnancy following prenatally diagnosed central nervous system malformations

PurposeTo analyze fetal cerebral malformations with late termination of pregnancy (TOP) and to evaluate the rate of cases that could have been detected earlier using international recommended requirements of sonographic examination of the fetal central nervous system (CNS).Materials and methodsCases of singleton pregnancies above 18+0weeks of gestation ending in late TOP due to fetal CNS malformations between 2002 and 2011 were retrospectively reviewed. The cases were divided into isolated and non-isolated cerebral malformations. Prevalence and timing of TOP were assessed relative to the identified malformations.ResultsDuring this 10-year period, 212 (20.8%) out of 1017 late TOPs were performed in pregnancies with fetal cerebral malformations. 59 cases were excluded because of chromosomal anomalies. 86 (56.2%) of the remaining 153 cases were isolated cerebral malformations while 67 (43.8%) were non-isolated. TOP after viability (24+0weeks of gestation) was performed in 61.4% (94/153). Substantial morbidity (n=80; 52.3%) and mental retardation (n=33, 38.4%) made up the leading prognostic groups. In about 80% of detectable anomalies, diagnosis of CNS malformation could have been made earlier by following international guidelines of fetal CNS examination at second trimester scan.ConclusionGeneral implementation of ultrasound screening in maternity care can significantly reduce the number of late TOPs in Germany

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

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

Fetal Cardiac Intervention in Critical Aortic Stenosis with Severe Mitral Regurgitation, Severe Left Atrial Enlargement, and Restrictive Foramen Ovale

Objective: To assess the intrauterine course and outcome of fetal cardiac intervention (FCI) in fetuses with critical aortic stenosis (CAS), severe mitral regurgitation (MR), severe left atrial dilatation (LAD), and restrictive foramen ovale (RFO) or intact atrial septum. Methods: All fetuses with a prenatal diagnosis of CAS, severe MR, severe LAD, and RFO were retrospectively collected in one tertiary center for fetal medicine over a period of 10 years. Video recordings, pre- and postnatal charts were reviewed for cardiac and extracardiac anomalies, intrauterine course, and postnatal outcome. Results: Nineteen fetuses with CAS, severe MR, severe LAD, and RFO were diagnosed in the study period. In 5 cases, FCI was not considered as the parents either opted for expectative management or for termination. In the remaining 14 fetuses, 21 FCI were performed: 14 balloon valvuloplasties, 2 atrioseptostomies, and 5 fetal atrial stent insertions. Seven of 14 fetuses (50%) had fetal hydrops, 5 of 14 fetuses (36%) presented with intact atrial septum. Procedure-related death occurred in 5 fetuses after aortic valvuloplasty or concomitant atrioseptostomy but in none after fetal atrial stenting. Due to progressive hydrops, two terminations of pregnancy were performed. Among the 7 live births, 3 died in the neonatal period. The remaining 4 received single ventricle palliation, 2 following fetal aortic valvuloplasty and 2 after fetal atrial stent insertion. Conclusions: CAS with severe MR, severe LAD, and RFO has a high overall mortality even in cases undergoing intrauterine intervention. Parameters that accurately predict the intrauterine and postnatal outcome have yet to be defined

Prenatal Diagnosis and Postnatal Outcome of Fetuses with Pulmonary Atresia and Ventricular Septal Defect

Purpose To assess the intrauterine course, associated conditions and postnatal outcome of fetuses with pulmonary atresia with ventricular septal defect (PAVSD). Methods All cases of PAVSD diagnosed prenatally over a period of 10 years with a minimum follow-up of 6.5 years were retrospectively collected in 3 tertiary referral centers. Results 50 cases of PAVSD were diagnosed prenatally. 44.0 % of fetuses had isolated PAVSD, 4.0 % had associated cardiac anomalies, 10.0 % had extra-cardiac anomalies, 38.0 % had chromosomal anomalies, 4.0 % had non-chromosomal syndromes. Among the 32 liveborn children, 56.3 % had reverse flow in the patent arterial duct, 25.0 % had major aortopulmonary collateral arteries (MAPCAs) with ductal agenesis and 18.7 % had a double supply. 17 pregnancies were terminated (34.0 %), there was 1 intrauterine fetal death (2.0 %), 1 neonatal death (2.0 %), and 6 deaths (12.0 %) in infancy. 25 of 30 (83.3 %) liveborn children with an intention to treat were alive at the latest follow-up. The mean follow-up among survivors was 10.0 years (range 6.5-15.1). 56.0 % of infants underwent staged repair, 44.0 % had one-stage complete repair. After exclusion of infants with additional chromosomal or syndromal anomalies, 88.9 % were healthy, and 11.1 % had mild limitations. The presence of MAPCAs did not differ significantly between survivors and non-survivors (p = 0.360), between one-stage or staged repair (p = 0.656) and healthy and impaired infants (p = 0.319). Conclusion The prognosis in cases without chromosomal or syndromal anomalies is good. MAPCAs did not influence prognosis or postoperative health. The incidence of repeat interventions due to recurrent stenoses is significantly higher after staged compared with single-stage repair