INTRODUCTION: Prenatal diagnosis of bladder exstrophy is extremley rare and difficult. BACKGROUND: Due to abnormal development of the cloacal membrane there is an incomplete closure of the lower abdominal wall, absence of the anterior wall of the bladder and external exposition of the posterior wall. The pubic bones are usually separated, the umbilical cord low inserted and there is abnormal external genitalia development. CASE REPORT: At 21st week of gestation of 39-year-old multigravida multipara referred by a primary care obstetrician to high-specialised centre for a detailed ultrasound examination with a suspicion of bladder absence and inferior umbilical localisation. At 29 weeks of gestation presence of bulging mass of 2 cm, between the umbilical outlet and labia was detected. At 31 weeks of gestation previously detected structure among thighs had 3 cm diameter with lateral umbilical outlet. Major labia were prominent and minor labia were within normal limits. Between two umbilical arteries with an appropriate intraabdominal course there were no transsonic area corresponding to the urinary bladder. The newborn baby was born at term in a good condition, but with an exposed bladder of 4 cm in diameter. The urethral outlet was not visualised and the female genitals were abnormal. After a month the girl underwent primary bladder exstrophy closure. Although she suffers from recurring urinary tract infections, she is in a good general condition. CONCLUSIONS: Due to prenatal diagnostics it was possible to detect and make an initial diagnosis of severe malformation. Early diagnosis allowed to prepare parents for a newborn with a defect and teach them how to take care of the baby.
This case report presents a prenatal diagnosis with postnatal confirmation (by angio CT and computer reconstruction) of an isolated double aortic arch, with no blood disturbances and with no clinical symptoms after birth. Literature review was focusing on the possible symptoms in the future. Prenatal findings should be forwarded to neonatologist and pediatrician despite clinical silence.
Prenatal diagnosis of total anomolous pulmonary venous connection (intracardiac) was diagnosed in fetus with dextrocardia and complex heart defect, which allowed fetal echocardiography monitoring, planning the time and place for delivery as well as early cardiac surgery. The differences between prenatal and postnatal evaluations were underlined. Despite life treathening condition neonate was asymptomatic without any heart murmur for the first 3 days after delivery.
Nijmengen breakage syndrome is a rare autosomal condition mainly characterized by microcephaly. Patients are predisposed to malignancies due to combined immunodeficiency. The presented patient had prenatally diagnosed microcephaly with atypical ventriculomegaly of occipital horns. Fetal echocardiography showed a normal fetal heart anatomy. Diagnosis of Nijmengen syndrome was confirmed postnatally. The differential diagnosis of fetal microcephaly should take into account intrauterine infections, perinatal brain injury, congenital malformations or biological variants.
Introduction: The aim of this study was to evaluate the following parameters of fetuses and neonates with omphalocele: the prevalence of coexisting congenital heart defects (CHD), abnormalities in heart function and the impact of coexisting CHD on fetal and neonatal survival. Material and methods: The study group consisted of 69 fetuses with omphalocele diagnosed and monitored at the Department of Prenatal Cardiology in our Institute in the years 2007-2017. The retrospective analisis of patients' data was performed. For statistical analysis we used Chi-square test, t-Student test and U Mann-Whitney test.. Results: In the studied group omphalocele was an isolated defect in 31.9% of the cases (22/69), in 68.1% (47/69) coexisting defects were present, in 49.3% (34/69) the coexisting defect was CHD. The most common CHD coexisting with omphalocele were ventricular septal defect (VSD), double outlet right ventricle (DORV) and atrio-ventricular septal defect (AVSD). Abnormalities of heart function were present in 43.5% (30/69) of fetuses with omphalocele: 23.5% (8/34) with normal heart anatomy and in 62.9% (22/35) with CHD. Statistically significant differences between the group with normal heart anatomy and the group with CHD regarded: Cardiovascular Profile Score (CVPS) (median 10 points vs median 9 points, U Mann-Whitney test p=0.034), neonatal birth weight(mean 3253 g vs median 2700 g, U Mann-Whitney test p=0.003), Apgar score (median 8 vs median 7, U Mann-Whitney test p=0.038) and survival rate until discharge from hospital (85% vs 52.9%, Chi-square test p=0.034). The comparison of data from 2007-2017 with data obtained from similar analysis performed in our center in 1999-2006, revealed significant improvement in the early detection of omphalocele (median 14.5 weeks of gestation vs mean 25.4 weeks of gestation), gestational age of delivery (mean 38 weeks of gestation vs mean 34 weeks of gestation) and survival rate until discharge both in neonates with normal heart anatomy and coexisting CHD (85% and 52.9% vs 70% and 23% respectively) . Conclusions: 1. The presence of coexisting CHD is an important prognostic factor in fetuses and neonates with omphalocele, so early fetal echocardiography should be performed in every case of omphalocele. 2. During the last decade (2007-2017), in contrast to years 1999-2006, we observed significant improvement in early and complete prenatal diagnosis of omphalocele. 3. We observed improvement in strategy of obstetrical management resulting in delivering neonates in a more advanced gestational age both in the group with normal heart anatomy and the group with coexisting CHD.
OBJECTIVES: Our objectives were two-fold: 1) to determine the frequency of discordant umbilical artery Doppler systolic to diastolic (S/D) ratios in the individual umbilical arteries of growth-restricted fetuses and 2) to examine the impact of the frequency of discordance on clinical outcomes. METHODS: This was a prospective, observational study of growth-restricted fetuses. Doppler velocimetry was performed weekly and two S/D ratios were obtained for each fetal umbilical artery. Inter-artery discordance was defined as a difference in measurement categories (i.e., normal, elevated, absent, reversed) between the arteries. The number of abnormal measurements per visit was summed to 0-4 out of 4 values. A composite average number of abnormal Doppler measurements was calculated and fetuses were stratified based on degree of average number of abnormalities in increments of 25%: 0-<25%, 25-<50%, 50-<75%, and 75-100% abnormality. RESULTS: Of a total 241 fetuses (1762 visits), 110 (45.6%) had abnormal UAD flow and 189 (66%) demonstrated discordance. Abnormal values were noted in only one artery in 53% (n=151) of visits. Fetuses with any abnormal Doppler testing had smaller birthweights compared to fetuses with consistently normal testing (2485g vs 2623g, p <0.01); birthweight decreased as composite average of abnormal measurements increased (p = 0.03). CONCLUSION: The majority (66%) of fetuses with abnormal testing demonstrated UAD discordance. Up to 53% of fetuses could have been misdiagnosed if only one artery was tested. Fetuses with a higher frequency of Doppler abnormalities had lower birthweights. We propose obtaining two measurements from each umbilical artery in growth-restricted fetuses.
The prenatal detection of congenital anomalies of heart walls is very rare. We present a unique series of 8 cases with prenatal echocardiographic monitoring, treatment and postnatal follow-up, providing new insight into this “mysterious” heart problem
Introduction: Ultrasound assessment of fetal heart size (FHS) is widely used and recommended in many guidelines of fetal echocardiography due to its clinical value. The aim of this study was an analysis of some fetal heart measurements: ratio of heart area to chest area (HA/ CA) and transversal diameter of heart (AP) and their correlation to gestational age.
Material and methods: This retrospective study was based on database of records of ultrasound and echocardiographic examinations performed in our unit and included fetuses between 15th and 39th week of gestation with no evidence of heart defect or any abnormality.
Results: 609 ultrasound examinations were analyzed. The mean HA/CA was 0,30 ± 0,015, with no statistical difference between female and male (p>0,05), and seemed to be relatively constant with slight increase with advancing gestational age. The AP diameter in whole group correlated with gestational age (r=0,94) and there was no difference related to the fetuses gender.
Conclusion: The correlation of AP diameter and relative constancy of HA/CA ratio with gestational age presented in our normograms could be used for monitoring fetal development, but also for fetal cardiomegaly assessment.
INTRODUCTION: The aim of this study was to present our current practice of counseling patients and families with the most severe congenital malformations in the 3rd trimester of pregnancy and to develop practical guidelines for our team and involved healthcare/ socialcare professionals. MATERIAL & METHODS: It was a retrospective evaluation of a series of fetal cases in 2017 from single tertiary center. Maternal obstetrical medical history, time of prenatal detection of the anomaly (1st, 2nd or 3rd trimester), time between last fetal echocardiography and delivery, type of delivery, neonatal birth weight and time of neonatal demise. The total study group was subdived into early demise (during the 1st day after delivery) or late demise > 1st day after delivery. RESULTS: Mean maternal age was 30,4 +/- 5,6 years, and varied between 26 and 38 years. No chronic maternal diseases were found in medical history and no congenital malformations were present in previous children. All women had 1st trimester ultrasound, in 9 cases, it was reported as normal (with NT measurement < 2 mm), in 2 cases extracardiac abnormalities were detected: diaphragmatic hernia and omphalocele ( in both fetal karyotype 46,XY). In nine cases, the abnormalities were detected in midgestation and with maternal wish to continue the pregnancies. There were 8 neonatal deaths within 60 minutes after delivery, including one intrapartum death and 3 “late” neonatal deaths in the intensive care unit (on 12th, 21st and 22nd day). We stress upon the prenatal team approach and counseling of future parents, in order to prepare them for poor neonatal outcome. CONCLUSIONS: 1. In the most severe cases when fetal or neonatal demise was suspected, the two different opinions of specialists might not be enough and a third opinion should be recommended before final decision. 2. A Fetal Team of specialists is necessary in cases of expected fetal/neonatal demise in order to prepare a written report of recommended perinatal management for all sides involved in this difficult problem.
On 27.10.2017, in the course of the CARDIO-PRENATAL Conference at the Polish Mother’s Memorial Institute and Health Centre in Lodz, we presented, among others, the following problems:
classification of prenatal heart defects, fetal hemodynamic status evaluation in the third trimester, expected neonate’s clinical condition, planned procedures to be conducted just after birth and also planned medical staff to be present in the delivery room. Here are our main recommendations following the meeting and discussion.