Prenatal Cardiac Ultrasound Markers of Outcomes in Ebstein's Anomaly: An International Multicenter Case Series.

This study aimed to analyze prenatal cardiac ultrasound markers of outcome in fetuses with Ebstein's anomaly (EA). From a retrospective database, 35 fetuses diagnosed with EA at fetal medicine centers in Brazil, Italy, and Poland were retrieved. The primary outcome was perinatal mortality. We analyzed prenatal cardiac ultrasound markers of outcomes and perinatal follow-up. Gestational age at diagnosis, extracardiac fetal anomalies, spontaneous fetal demise, and gestational age at each event were recorded. In postnatal survivors, data on cardiac surgery and short-term postoperative outcomes were collected. Our study included a cohort of 35 fetuses with EA (mean gestational age of 29.4 weeks), in which 6 fetuses were excluded due to termination of pregnancy (3), pregnancy still ongoing (2), and missed follow-up (1). Of the remaining 29 cases, severe tricuspid regurgitation and absence of anterograde pulmonary flow (pulmonary atresia) were observed in 88%. Significant cardiomegaly accounts for 58% of these data with a mean cardiothoracic ratio of 0.59. The cardiovascular profile (CVS) score ≤ 6 in six patients with one survival (4 fetal deaths, one stillbirth, and one survival). All fetuses with CVS score of 5 had intrauterine demise. Seventeen fetuses were born alive (53.1% of 29 cases). Of the remaining fetuses, one (1%) fetal was a stillbirth, six (20%) fetuses were neonatal deaths, and five (17%) fetuses were fetal deaths. Of the nineteen patients who underwent surgery to correct the cardiac defect, 17 survived after surgery. Among the survivors, biventricular cardiac repair was performed using the cone technique (da Silva's approach) in the majority of cases. We observed 2 abnormal karyotypes among in the remaining 29 fetuses. One of the patients with abnormal karyotype was a fetus with ascites and large for gestational age. The other patient with abnormal karyotype underwent cardiac surgery and progressed to neonatal death. Nine patients (25%) had extracardiac anomalies (genitourinary anomalies and single umbilical artery), being that 2 of them are alive and 4 died (2 had fetal and 2 neonatal death). Fetal EA is associated with high mortality. The most common prenatal marker associated with non-survival was CVP score ≤ 6. Fetuses that survived and underwent postnatal corrective surgery are significantly favorable outcomes.

Maternal hyperoxygenation during pregnancy as a tool in fetal disease diagnosis and treatment.

Maternal hyperoxygenation (MHO) consists of giving pregnant women (60% to 100%) oxygen through a facemask and using ultrasound assess or monitor the influence on fetal cardiovascular circulation. This review discusses the findings and the utility of acute and chronic MHO in various fetal diseases.

Fetal echocardiography and early neonatal balloon valvuloplasty improved overall survival in prenatally detected aortic stenosis over 25 years of tertiary center experience.

PURPOSE: This article aimed to present the factors determining survival and prognosis in fetuses and newborns with critical prenatal aortic stenosis (AS) and to present 26 years of tertiary center experience. METHODS: Study included 87 fetuses with critical AS requiring surgical intervention during neonatal period. All results were expressed as means ± SD, in numbers and percentages. The statistically significant results were those with p < 0.05. RESULTS: An increase in the number of cases of AS was observed in our center along with a decrease in gestational age of our patients during the first echocardiographic exam. The survival rate of newborns was considerably higher when born in due time (p < 0.05) with body weight > 2500 g (p < 0.05). Balloon valvuloplasty performed in the first days after birth occurred to be an optimal solution in these cases. CONCLUSIONS: Fetal echocardiography and special perinatal care with transplacental maternal pharmacotherapy in selected cases and an early neonatal aortic balloon valvuloplasty have shown improvement in survival rate. The most dangerous for the newborn with AS was the first week of postnatal life. It is vital to refer the fetuses with AS to the reference centers which offer the possibility of invasive cardiac intervention on the first day after birth, and it might be an optimal solution.

Prenatal Diagnosis and Outcome of Congenital Corrected Transposition of the Great Arteries - A Multicenter Report of 69 Cases.

OBJECTIVE: Congenital corrected transposition of the great arteries (ccTGA) is a rare congenital cardiac anomaly which remains difficult to diagnose prenatally. We aim to investigate the natural history, associated anomalies and the outcome of patients in prenatally diagnosed ccTGA. METHOD: This was an international multicenter retrospective analysis of fetuses with a diagnosis of ccTGA from 2002 to 2017. We reviewed clinical and echocardiographic databases of seven centers. Anatomic survey and fetal echocardiography were performed according to international guidelines of ISUOG. RESULTS: We considered 69 fetuses with prenatally suspected ccTGA. There was an overall survival rate of 91 % among 54 patients with a confirmed diagnosis. Survival to live birth was 96 % (52/54) and survival on an intention-to-treat basis was 94 % (49/52). The mean gestational age at the time of diagnosis was 25.6 ±â€Š5.9 weeks of gestation. In 7 out of 54 fetuses (13 %), ccTGA was an isolated finding. Dextro/mesocardia was present in 15 cases (27.8 %). Intracardiac anomalies were present in 46/54 cases (85.2 %) with the most frequent anomaly being a ventricular septal defect present in 41 fetuses (75.9 %). Complete heart block was diagnosed in 10 cases (18.5 %). Extracardiac anomalies were observed in 9 out of 54 cases (16.7 %). Prenatal karyotyping of the fetus was available in 30/54 (55.6 %) cases with chromosomal anomalies in 4/30 (13.3 %). CONCLUSION: ccTGA is a rare cardiac anomaly often accompanied by a variable spectrum of further intracardiac abnormalities. Accurate diagnosis of ccTGA, which can be integrated into parental counselling, is feasible with a favorable short-term outcome for affected neonates.

Detection screening and seasonality evaluation of hypoplastic left heart syndrome in the polish national registry for fetal cardiac anomalies from the years 2004 to 2016.

OBJECTIVES: To evaluate the incidence of hypoplastic left heart syndrome (HLHS) and the efficiency of the screening program using data from the Polish National Registry for Fetal Cardiac Anomalies. To investigate whether HLHS incident rates in Poland are seasonally variable. METHODS: Data on 791 cases of HLHS from the Registry collected between 2004 and 2016 was analyzed. RESULTS: The median gestational age for the 734 cases of HLHS detected was 23 weeks. Comparing the age at time of HLHS detection between 2004 and 2016, a decrease from 26 to 20.8 weeks was observed. We noted a rapid increase in HLHS incidence during the initial years of the Registry data, the annual percentage change during that period was 22.0% and this trend lasted until 2010. In the following years, the Registry became representative of the general population which has an estimated incidence of HLHS of 20.93 cases per 100 000 live births. We observed no clear seasonal patterns of HLHS incidence in our population. CONCLUSION: The Registry reached a plateau state in terms of diagnosing new cases of HLHS. No evidence of seasonality has been noted. The average gestational age of patients identified as having HLHS decreased significantly during the study period.

Hemodynamic factors associated with fetal cardiac remodeling in late fetal growth restriction: a prospective study.

Background Altered cardiac geometry affects a proportion of fetuses with growth restriction (FGR). The aim of this study was to explore the hemodynamic factors associated with cardiac remodeling in late FGR. Methods This was a prospective study of singleton pregnancies complicated by late-onset FGR undergoing assessment of left (LV) and right (RV) ventricular sphericity-index (SI). The study population was divided in two groups according to the presence of cardiac remodelling, defined as LVSI <5th centile. The following outcomes were explored: gestational age at birth, birthweight, caesarean section (CS) for fetal distress, umbilical artery (UA) pH and neonatal admission to special care unit. The differences between the 2 groups in UA pulsatility index (PI), middle cerebral artery (MCA) PI, uterine artery PI, cerebroplacental ratio (CPR) and umbilical vein (UV) flow corrected for fetal abdominal circumference (UVBF/AC) were tested. Results In total, 212 pregnancies with late FGR were enrolled in the study. An abnormal LV SI was detected in 119 fetuses (56.1%). Late FGR fetuses with cardiac remodeling had a lower birthweight (2390 g vs. 2490; P = 0.04) and umbilical artery pH (7.21 vs. 7.24; P = 0.04) and were more likely to have emergency CS (42.8% vs. 26.9%; P = 0.023) and admission to special care unit (13.4% vs. 4.3%; P = 0.03) compared to those with normal LVSI. No difference in either UA PI (p = 0.904), MCA PI (P = 0.575), CPR (P = 0.607) and mean uterine artery PI (P = 0.756) were present between fetuses with or without an abnormal LV SI. Conversely, UVBF/AC z-score was lower (-1.84 vs. -0.99; P ≤ 0.001) in fetuses with cardiac remodeling and correlated with LV (P ≤ 0.01) and RV SI (P ≤ 0.02). Conclusion Fetal cardiac remodelling occurs in a significant proportion of pregnancies complicated by late FGR and is affected by a high burden of short-term perinatal compromise. The occurrence of LV SI is independent from fetal arterial Dopplers while it is positively associated with umbilical vein blood flow.

Prenatally diagnosed foramen ovale restriction in fetuses with hypoplastic left heart syndrome may be a predictor of longer hospitalization, but not of a need for an urgent rashkind procedure.

OBJECTIVES: This prospective study aimed to assess the effectiveness of foramen ovale examination in classifying prenatal hypoplastic left heart syndrome (HLHS) in accordance with the new classification groupings for congenital heart defects. MATERIAL AND METHODS: The analysis included 145 fetuses with HLHS, diagnosed and monitored between 2008 and 2015 in Prenatal Cardiology Department at Polish Mother's Memorial Hospital Research Institute in Lodz. The main criteria for classifying our study population into three sub-groups was was the presence of a foramen ovale restriction, which we diagnosed by evaluating the diameter and blood flow through the foramen ovale. Of the total group, 73.8% (n = 107) were classified as severe planned, 24.1% (n = 35) as severe urgent, and 2.1% (n = 3) as the severest group. RESULTS: Comparing the severe planned and the severe urgent HLHS groups showed: gestational age of delivery 38 vs 38 weeks respectively (p = 0.45); cesarean delivery 62% vs 79.2% (p = 0.15); neonatal birth weight 3110 g vs 2985 g (p = 0.2); Apgar score 9 vs 9 points; survival rate 65.8% vs 61.9% (p = 0.8); and hospitalization 38 vs 46.5 days (p = 0.059). Prenatal qualification for the group of severe urgent HLHS was characterized by 100% sensitivity, 80.6% specificity and a low posi- tive predictive value of 9.5%. CONCLUSIONS: 1. Prenatal qualification into the group of severe urgent CHD based on the features of foramen ovale was characterized by high sensitivity, a satisfying specificity and a low positive predictive value. 2. Prenatally diagnosed foramen ovale restriction may be a predictor of longer hospitalization, but not of a need for an urgent Rashkind procedure. 3. New classifications of CHDs allowed clinicians to determine prognoses and to plan optimal multi-specialized care which resulted in similar outcomes between the severe planned and severe urgent HLHS groups.

The significance of a prenatal diagnosis of right aortic arch.

OBJECTIVES: To analyze a population of fetuses with prenatally diagnosed right aortic arch (RAA). METHODS: Retrospective study of fetuses with RAA diagnosed prenatally between 2011 and 2015 in two referral centers. RESULTS: Right aortic arch was found in 4.4% (46/1036) of fetuses with cardiovascular abnormalities (CVA). As an isolated anomaly, RAA was present in 30.4% of cases; in 32.6%, other CVA were detected; in 23.9%, CVA and extracardiac anomalies; and in 13.1%, only extracardiac malformations. The most common noncardiac abnormalities were thymus hypoplasia/aplasia (7/17), of which six had deletion 22q.11.2. In another three fetuses, trisomy 21 was present. One intrauterine fetal death occurred at 41 weeks of pregnancy, and two fetuses died after birth. In six of 18 infants with known follow-up, symptoms of dysphagia were reported, of which four infants underwent surgical intervention. In 12 infants, an isolated RAA was clinically silent. CONCLUSIONS: The diagnosis of RAA is an indication for a detailed examination of cardiac and noncardiac structures, including the thymus. It is advisable to consider genetic testing, together with the assessment of deletion 22q11.2, especially in the case of accompanying defects. The prognosis depends on underlying cardiac and extracardiac anomalies and possibly coexisting genetic defects. Isolated anomalies are asymptomatic. © 2017 John Wiley & Sons, Ltd.

Absent pulmonary valve syndrome - diagnosis, associations, and outcome in 71 prenatally diagnosed cases.

OBJECTIVE: The objective of this study was to analyze the spectrum of prenatally diagnosed absent pulmonary valve syndrome (APVS) and the outcome from diagnosis onwards. Fetuses with APVS and tetralogy of Fallot (TOF/APVS) and with APVS and intact ventricular septum (APVS/IVS) were included. METHOD: Multicenter retrospective study of the International Prenatal Cardiology Collaboration Group. Clinical and echocardiographic databases of nine referral centers were reviewed from 2012-2016. RESULTS: The cohort included 71 cases, 59 with TOF/APVS and 12 with APVS/IVS. In 18.3% of cases, diagnosis was achieved within first trimester. Association with hydrops fetalis was high within first trimester (69%). No fetus with known outcome survived after first trimester diagnosis. Karyotype anomalies occurred in 45% of cases with known karyotype. Intrauterine fetal demise occurred in 14.3%. Overall survival after initial diagnosis in the total cohort was 28.1% (28.8% TOF/APVS and 25.0% APVS/IVS). Survival to birth was 50% in TOF/APVS and 44.4% in APVS/IVS. Survival of subjects born alive beyond neonatal period was 84.6% in TOF/APVS and 100% in APVS/IVS. CONCLUSION: Diagnosis of APVS is feasible within first trimester. Outcomes remain guarded, especially if first trimester diagnosis is included into the analysis because of associated karyotypic anomalies, the presence of hydrops fetalis, and patent ductus arteriosus. © 2017 John Wiley & Sons, Ltd.

Fetal echocardiography for planning perinatal and delivery room care of neonates with congenital heart disease.

Fetal echocardiography facilitates the prenatal diagnosis of infants with congenital heart disease (CHD) and through sequential examinations, allows assessment of fetal hemodynamics and cardiovascular status from the time of diagnosis to delivery. Fetal cardiologists have created diagnostic protocols aimed at risk stratifying severity and potential postnatal compromise in fetuses with CHD, and identifying those who may require special intervention at birth or within the first days of life. In this article, we review fetal cardiovascular physiology, the progression of CHD in utero and fetal echocardiographic findings used for risk stratification of newborns with CHD, as well as some of the basic principles of planning for the neonatal resuscitation and initial transitional care of these complex newborns.

The course of pregnancy and delivery in a patient with malaria.

Malaria is one of the most common lethal parasitic diseases. Infection is transmitted when an infected female mosquito bites a human introducing the sporozoites into human blood. The article presents the course of pregnancy and delivery in a patient complicated by Plasmodium infection. The patient had repetitive several trips to Tanzania over a short time period before she developed the condition. She had been taking antimalarial medication (proguanil-atovaquone) in a prophylactic dose during and after her first travel to Tanzania. Following her first return to Poland she experienced infection-related symptoms.

Prenatal Echo-Sonographic Parameters in Fetuses Wrapped with the Umbilical Cord in the Third Trimester of Pregnancy.

This study constitutes a description of prenatal echo-sonographic parameters in fetuses wrapped with the umbilical cord in the third trimester of pregnancy and demonstrates the practical importance of the umbilical cord collision. Echocardiographic examinations were performed within 6 months, and a group of patients in the third trimester with a mean age of 28.1 ± 0.79 weeks of gestation (p = 0.075) was distinguished. The group included 46 fetuses from single pregnancies with the umbilical cord around the fetal neck and 70 fetuses without the umbilical cord around the fetal neck. The course of the umbilical cord coiling around the fetal neck was recorded by color Doppler. We also conducted a follow-up with the newborns. In the study group, there was an elevated peak systolic velocity of the umbilical artery (UMB PSV) at a level of 44.17 cm/s vs. 38.90 cm/s in the control group (p = 0.004), and caesarean sections were significantly more frequent (54.5% vs. 31.4%). The persistence of the nuchal cord during delivery was observed in 37% of newborns in the study group, while the occurrence of umbilical wrapping during delivery was found in 18.6% of newborns in the control group (p = 0.027). In the studied cases, caesarean sections were 2.62 times more frequent (OR = 2.62), whereas nuchal cords during delivery were 2.57 times more often observed (OR = 2.57). Fetal umbilical cord wrapping in the third trimester of pregnancy does not have a significant hemodynamic impact; however, the UMB PSV might be slightly elevated in this group, and the frequency of umbilical cord collision during delivery and the need to perform a caesarean section at term seem to be more common.

Cardiac Adaptation and Preferential Streaming in Fetuses with Multiple Nuchal Cords.

The echocardiographic monitoring of a fetus with multiple nuchal cords around the fetal neck is important as it may result in cardiac remodeling and preferential streaming, thus affecting the condition of the fetus. The main aim of our study was to assess whether the collision of the umbilical cord around the fetal neck can lead to discrepancies in the size of the pulmonary artery and the aorta in the three-vessel view and to an increase in the size of the heart, which may result from the compression of the carotid arteries caused by the umbilical cord wrapping around the fetal neck. A total number of 854 patients were included in this study and divided into three groups. Group A (control group) included 716 fetuses (84%) without the umbilical cord around the fetal neck. Group B (study group B) included 102 fetuses (12%) with one coil of the umbilical cord around the fetal neck. Group C (study group C) included 32 fetuses (4%) with two coils of the umbilical cord around the fetal neck. The range of the gestational age of the patients considered for this study was 27-40.2 weeks based on the ultrasound biometry and was not statistically different between the analyzed groups A, B and C (p > 0.05). The Pa/Ao index was calculated by dividing the value of the width of the pulmonary artery (in mm) to the width of the aorta (in mm) measured in the ultrasound three-vessel view. We found that fetuses that the fetuses with one and two coils of the umbilical cord around the neck showed significantly higher values of the width of the pulmonary trunk with the unchanged value of the aorta width. Therefore, we also observed significantly higher values of the ratio of the pulmonary trunk to the aorta for the fetuses wrapped with the umbilical cord around the neck compared with the control group without the umbilical cord around the neck (. Moreover, in the fetuses with one and two coils of the umbilical cord around the fetal neck, an increased amount of amniotic fluid was observed, whereas larger dimensions of CTAR in the fetuses with two coils of the umbilical cord around the neck were present (p < 0.05). The wrapping of the fetus with the umbilical cord around the fetal neck may induce the redistribution of blood flow, leading to fetal heart enlargement and disproportion and may be the cause of polyhydramnios.

Small prenatal diameter of the ascending aorta is associated with increased mortality risk in neonates with congenital diaphragmatic hernia.

Introduction: The aim of this study was to evaluate whether selected prenatal markers obtained from fetal echocardiography can predict postnatal outcome in congenital diaphragmatic hernia (CDH) patients. We also aimed to verify the prognostic value of lung-to-head ratio (LHR). Material and methods: The study group included 29 fetuses with CDH. We analyzed potentially prognostic parameters measured using fetal echocardiography and fetal ultrasound. The assessed parameters were compared between the group of patients with CDH who survived to discharge (n = 21) and the subset of patients who died before discharge from hospital (n = 8). Results: In survivors, mean z-score for ascending aorta (AAo) diameter was 0.23 ±0.98 vs. - 1.82 ±1.04 in patients who died (t-test, p = 0.0015). In survivors, the main pulmonary artery/ascending aorta ratio was 1.22 ±0.17 vs. 1.46 ±0.21 in patients who died (t-test, p = 0.017). In survivors, the LHR was 1.81 ±0.96 vs. 0.95 ±0.6 in patients who died (t-test, p = 0.019). In survivors, the observed to expected LHR was 57 ±30% vs 30 ±18% in patients who died (t-test, p = 0.018). Conclusions: Narrowing of the ascending aorta in CDH fetuses is a poor prognostic factor associated with increased mortality in neonates. Our study also confirmed the prognostic value of LHR.

Ectopia cordis: prenatal diagnosis, perinatal outcomes, and postnatal follow-up of an international multicenter cohort case series.

OBJECTIVE: This study aimed to analyze prenatal diagnosis, perinatal outcomes, and postnatal follow-up in fetuses with ectopia cordis (EC). METHODS: This retrospective analysis accessed 31 patients with EC who were either diagnosed or referred to a tertiary Fetal Medicine centers for EC diagnosis in Brazil, Germany, Italy, and Poland. We analyzed prenatal diagnosis, perinatal outcomes, and follow-up in these patients. RESULTS: Our study included a cohort of 31 fetuses with EC, 4 and 27 of whom had partial and complete protrusion of the heart through a ventral defect in the thoracoabdominal wall, respectively. EC was diagnosed by fetal echocardiography at a mean gestational age of 20.3 ± 8.6 weeks (range, 8-35 weeks). Of the four cases, in which the karyotype was performed, all of them had a normal result (1 - 46,XX and 3 - 46,XY). Five patients showed conotruncal abnormalities and six ventricular septal defects. Termination of pregnancy (TOP) was performed in 15 cases (48%) and seven pregnant women had spontaneous fetal demise (22.5%). Of the seven fetuses that were born alive, four of them died, and three infants underwent surgery. Among these three infants, all of them survived, one was 5 months, 13 years old and 29 years old at the time of study completion. CONCLUSIONS: Ectopia cordis is associated with high mortality rates and intracardiac/extra-cardiac defects. Ventricular septal defects and conotruncal anomalies were the more common intracardiac defects associated with EC. However, in this cohort of fetuses with EC the incidence of PC was lower than reported in the literature.

The Polish National Registry for Fetal Cardiac Pathology: organization, diagnoses, management, educational aspects and telemedicine endeavors.

OBJECTIVE: We describe the National Registry for Fetal Cardiac Pathology, a program under the Polish Ministry of Health aimed at improving the prenatal diagnosis, care, and management of congenital heart disease (CHD). METHODS: An online database was created to prospectively record diagnosis, prenatal care, delivery, follow-up, and still images and video for fetuses with CHD. A certification program in fetal cardiac ultrasound was also implemented. Optimal screening and referral centers were identified by number of fetuses entered in the Registry yearly by each center. RESULTS: From 2004 to 2009, 2910 fetuses with CHD were registered (2473 structural, 437 functional anomalies). The most common reasons for referral for fetal echocardiography were abnormal four-chamber view (56.0%) and extra-cardiac anomalies (8.2% ), while the most common diagnoses were atrioventricular septal defects (10.2%) and hypoplastic left heart syndrome (9.7%). Prenatal diagnosis increased yearly, from 10.0% of neonatal diagnoses in 2003 to 38.0% in 2008. CONCLUSION: From inception of the registry up to 2009 there has been a fourfold increase in the number of neonates referred for cardiac surgery in whom the condition was prenatally diagnosed. Equally important achievements include the establishment of a certification program for fetal echocardiography and the organization of prenatal and neonatal management.