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.

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.

Potential Impact of a Pregnant Woman's Microbiota on the Development of Fetal Heart Defects: A Review of the Literature.

Developments in medicine and biology in recent decades have led to a significant increase in our knowledge of the complex interactions between the microbiota and human health. In the context of perinatal medicine and neonatology, particular attention is being paid to the potential impact of the maternal microbiota on fetal development. Among the many aspects of this relationship, the question of the impact of dysbiosis on the development of fetal heart defects is an important one. In this article, we present an analysis of recent research and scientific evidence on the relationship between a pregnant woman's microbiota and the development of fetal heart defects. We also discuss potential intervention strategies, including the role of probiotics and diet in optimising the maternal microbiota.

The Predictive Value of the CSA Index in the Prenatal Diagnosis of Aortic Coarctation in Ultrasound Examination Performed during the Second Trimester.

BACKGROUND: Aortic coarctation (CoA) is the fourth most common congenital heart defect (8-10%) which occurs at a frequency of about 20-60/100,000 births. Only 22.3% of all cases appears to be diagnosed during the second trimester of pregnancy. Since the detection of prenatal aortic coarctations is very low, every effort should be made to change this situation. According to the authors of this study, the CSAi (carotid to subclavian artery index) could serve as a reliable indicator. MATERIAL AND METHODS: Ninety-six fetuses from healthy, single, pregnancies, with good ultrasound visualization between 18 and 27.5 weeks of gestation, and twenty-three fetuses suspected of aortic coarctation (postnatally confirmed) were included in this study. Our first aim was to compare the current most common method of prenatal CoA diagnosis based on the measurement of the aortic z-score in the aortic isthmus using the method suggested by us-CSAi. RESULTS: Logistic regression coefficients for z-score and CSAi were analyzed as predictors of coarctation occurrence. It appears that 39.4% of coarctation occurrence can be predicted on the basis of the z-score, and 93.5% on the basis of the CSAi. The cut-off value for CSAi in the study group was 0.81 (sensitivity: 95.7%, specificity 99%). Based on the ROC curve analysis, the cut-off value for the carotid to subclavian distance (mm) was determined; the risk of coarctation increased above this value. Based on the Gini index (0.867), this value was set at 2.55 (sensitivity 82.6%, specificity 93.7%). CONCLUSIONS: CSAi measurement is currently the most sensitive method for aortic coarctation detection. For the purpose of our study, this method was applied in diagnostics in the second trimester of pregnancy. This method is easy, reproducible and should be widely introduced into everyday echocardiographic diagnostics of coarctation to minimize the risk of error.

Impact of Prenatal and Postnatal Diagnosis on Parents: Psychosocial and Economic Aspects Related to Congenital Heart Defects in Children.

Congenital heart defects (CHD) are defects detected both prenatally and after birth. They are the most common congenital defects. Despite advances in diagnosis and treatment, CHD remain an important cause of morbidity and mortality in newborns, which has a great impact on economic aspects. It is crucial to provide a holistic approach to the care of children with CHD, including regular cardiac check-ups, appropriate drug treatment, surgical or cardiac interventions as needed, rehabilitation, psychological support, and education for patients and their families. Parents experience a variety of psychological problems. This article summarizes the influence of CHD in the psychological and economic areas.

Sonographic imaging and differential diagnosis of fetal perineal masses.

This case series describes our experience with a prenatal diagnosis of fetal perineal masses. We propose a clinical-sonographic approach for prenatal workup in cases presenting perineal findings based on imaging the target sign at the posterior perineal triangle, the fetal genitalia, and sacrum. Targeted, structured prenatal anatomical scan in fetuses presenting with perineal masses may aid in the prenatal differential diagnosis and enable appropriate genetic analysis, prenatal counseling, and postnatal treatment.

Assessment of fetal thymus size and BMI in pregnant women with diabetes.

OBJECTIVES: The purpose of this study is to demonstrate whether diabetes during pregnancy affects the development of the fetal immune system. The background: evaluation of potential complications in diabetic pregnancy. The objective is evaluation of the significance of a new ultrasound method of thymus size in pregnancies complicated by diabetes. MATERIAL AND METHODS: The analysis was performed with the use of IBM SPSS Statistics 25.0 software. The Mann-Whitney U test was used for comparison of two groups, i.e., diabetic pregnancies and non-diabetic pregnancies, whereas Kruskal-Wallis H test was used to compare multiple groups. A linear regression model was used to determine the correlation between the type of diabetes and fetal thymus size as well as between maternal body mass index (BMI) and fetal thymus size. The significance level α was set at 0.05. RESULTS: A comparison between diabetic and non-diabetic pregnancies was made with the use of Kruskal-Wallis H test. The compared groups included women without gestational diabetes, with pre-gestational diabetes, gestational diabetes managed by diet and gestational diabetes treated with insulin and diet. The analysis revealed significant differences between the compared groups, H (3) = 23.06; p < 0.001; ƞ2 = 0.04. The additional post hoc Dunn's test with Bonferroni correction of the significance level was used to explore specific differences between group means. The results of this detailed analysis indicated that foetuses of diabetic mothers treated with diet had smaller thymus than foetuses of non-diabetic mothers (p = 0.001). Linear regression analysis was used to establish whether maternal BMI (defined as the body mass divided by the square of the body height and expressed in units of kg/m²) affects fetal thymus size. The analysis found no correlation between maternal BMI divided into the following categories: 18.5-24.99 normal weight, 25-29.99 overweight, 30.00-34.99 obese class I, 35.00-39.99 obese class II and ≥ 40.00 very severely obese, and fetal thymus size, b = -1.82; SE = 2.17; t = -0.84; p = 0.405; R2 < 0.01. CONCLUSIONS: Thymus size is statistically smaller in foetuses of diabetic mothers when compared to healthy controls. Overweighted and obese pregnancy is not a factor affecting fetal thymus size.

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.

Sonographic measurement of the fetal pancreas in women with gestational diabetes.

Introduction: Maternal glycemic state is positively correlated with fetal insulin secretion. Randomized control studies have shown that treatment during pregnancy inhibits to some degree this glycemic effect. Our study aimed to assess fetal pancreas size in a population of treated mothers with gestational diabetes. Material and methods: A cross-sectional, prospective observational study was conducted. Pregnant women at 19-36 weeks of gestation with pre-gestational diabetes receiving insulin therapy or with gestational diabetes receiving either insulin or oral hypoglycemic therapy were recruited. The fetal pancreas circumference was measured and compared to the normal reference range. The Z score of the difference between measured and normal predicted mean pancreas circumference, the regression analysis throughout pregnancy, and the correlation between estimated fetal weight centile and pancreas circumference were calculated. Results: Ninety-one women who had gestational diabetes and thirty-four women who had pre-gestational diabetes were included in the study. For both groups, fetal pancreas circumference correlated significantly with abdominal circumference, estimated fetal weight and gestational age. The mean Z score between the predicted pancreas circumference in the group of women diagnosed with gestational diabetes and the predicted pancreas circumference in a normal population peaked at around 24 weeks of gestation (1.1) and decreased gradually afterward to a value of zero at 37 weeks. The mean Z score between the predicted pancreas circumference in the group of women with pre-gestational diabetes and the predicted pancreas circumference in a normal population constantly decreased with duration of pregnancy. It was positive until the 25th week of gestation and then presented negative values towards the term. Conclusions: The presented preliminary data suggest a possible correlation between glycemic control treatment, pancreas size, and gestational age.

Nomograms of the fetal thymus for clinical practice.

INTRODUCTION: The fetal thymus may be visualized using ultrasonography (USG) and is typically located in the mediastinum. In the past years, the size of the fetal thymus has served not only as a marker of genetic or heart defects but also as a predictive factor for intrauterine growth restriction, premature birth, preeclampsia, chorioamnionitis or even neonatal sepsis. MATERIAL AND METHODS: A total of 410 fetuses were qualified for the study. Fetuses with heart defects were excluded from the study. The fetal thymus was evaluated with ultrasonography between the 14th and 40th week of gestation. After obtaining a standard transverse view encompassing the three great vessels, thymus measurements were attempted, i.e. maximal transverse diameter, circumference and surface area. Linear regression was used for statistical analysis, yielding 3 models, each with a different dependent variable. The confidence interval for each model was set at 80% to aid the comparison with centile grid growth charts for neonates and children. The test was regarded as statistically significant when p < 0.05. RESULTS: From a total of 410 fetuses the thymus transverse diameter, circumference and area were successfully measured in 410, 320 and 330 cases, respectively. The probabilities are lower than 0.0005 for each model, which means that each model is quite statistically significant. CONCLUSIONS: The coverage of healthy thymus nomograms in the fetal population may be the basis for the identification of fetuses at risk of hypoplasia or thymic hyperplasia, which seems particularly important from the point of view of the detection of potential inborn immunological disorders.

Retrospective cohort study of prenatally and postnatally diagnosed coarctation of the aorta (CoA): prenatal diagnosis improve neonatal outcome in severe CoA.

Introduction: Prenatal diagnosis of congenital heart disease (CHD) leads to improved outcome but not mortality rate. This may not be the case for coarctation of the aorta (CoA). The objective of this study is to estimate the effect of a prenatal diagnosis of CoA by comparing neonates with CoA by the time of diagnosis.Materials and methods: The study included 38 neonates with CoA diagnosed prenatally and 102 neonates diagnosed postnatally. The postnatal group was divided into two subgroups: (1) severe CoA: symptoms of CoA within the first 7 days (n = 43) and (2) mild CoA: symptoms within the 8-28th day (n = 34). The neonates diagnosed more than 28 days after delivery were excluded from the study (n = 25). Severe CoA was defined as CHD diagnosed postnatally with clinical symptoms that presented in the first week after birth. Mild CoA was defined as CHD that presented clinical symptoms later than 7 days of life.Results: Prostaglandins were initiated at lower doses (p < .001) in the prenatal group. Severe postnatal CoA was associated with more frequent Neonatal Intensive Care Unit (NICU) visits than mild postnatal CoA (p = .005). The length of hospitalization of neonates with severe postnatal CoA was 10 days longer than compared to the prenatal group, but the difference was not statistically significant. The highest mortality rate was in the severe postnatal CoA group (18.6%) which was significantly higher than the mortality rate in the prenatal group (p = .005).Conclusion: 1. Prenatal identification of fetuses at increased risk of developing CoA may reduce mortality and improve outcome only in neonates with severe CoA (symptoms of CoA within the first 7 days after birth); 2. Prenatal diagnosis of severe CoA was associated with lower prostaglandin doses and lower mortality rate.

Difficulties in prenatal diagnosis of tumour in the fetal sacrococcygeal area.

Prenatal ultrasound at the 20th week of gestation revealed a 3-cm tumour in the sacrococcygeal area. Initially, a sacrococcygeal teratoma was suspected on the basis of fetal ultrasonography, which revealed normal heart anatomy and an increasing tumour mass. The diagnosis was then changed to fetus in fetu or teratoma. Prenatal magnetic resonance imaging at the 34th week of pregnancy confirmed the ultrasound diagnosis. No other anomalies were found. Elective caesarean section was performed at term. The care team included a paediatric surgeon, obstetricians, neonatologists, midwives, and an anesthesiologist. A female newborn was delivered in good condition. The tumour was resected in the operating room and mature teratoma was established by histopathological evaluation. Surprisingly, agenesis of the right forearm was revealed which had not been detected prenatally, despite many examinations (both in our hospital and earlier at a primary care obstetrician office).