Maria Respondek-Liberska

Measurement of the Great Vessels in the Mediastinum Could Help Distinguish True From False-Positive Coarctation of the Aorta in the Third Trimester

Objective. We investigated the utility of analyzing prenatal mediastinal measures of the great arteries in distinguishing true coarctation of the aorta (CoA) from false‐positive CoA. Methods. All fetuses in this study had suspicion of CoA based on the presence of right‐left heart disproportion. We defined 3 study groups: group 1, true fetal CoA; group 2, false‐positive fetal CoA with a narrow aortic arch; and group 3, false‐positive fetal CoA without a narrow aortic arch. Results. In group 1, the mean mediastinal pulmonary artery (PA) to ascending aorta (Ao) diameter ratio ± SD was 2.03 ± 0.48, and in group 2, the ratio was 1.60 ± 0.23. The difference was statistically significant (P = .0018, t test). In group 3, the mean PA:Ao ratio was 1.35 ± 0.14. The difference between groups 1 and 3 was statistically significant (P = .0002, t test). In our study group, for a PA:Ao ratio of 1.60, sensitivity was 83.0%; specificity, 85.0%; positive predictive value, 62.5%; and negative predictive value, 94.0%. Conclusions. In the third trimester, the main PA:Ao ratio as measured in the fetal mediastinum can be a helpful tool in distinguishing true CoA requiring neonatal cardiac surgery from false‐positive CoA and simple disproportion requiring medical attention but no surgery in the first month of postnatal life.

Too Late Prenatal Diagnosis of Fetal Toxoplasmosis: A Case Report

Objective: We describe a case of severe fetal hydrocephalus due to toxoplasmosis which could not be diagnosed until late gestational age due to the lack of a serologic surveillance program during pregnancy; moreover, this case points to the usefulness of molecular biology tools in the diagnostic process. Abnormal ultrasound in the 2ndtrimester was noticed and Toxoplasma gondii was demonstrated in amniotic fluid at the 28th week of gestation both by PCR and by mice inoculation. Fansidar and folinic acid were administered. The newborn suffered from progressive hydrocephalus, seizures, and pathological muscular tonus; ultrasound examination showed massive cerebral calcifications. Ophthalmologic examination revealed bilateral choroidoretinitis. Congenital toxoplasmosis was confirmed by the detection of anti- T. gondii IgM and IgA in the neonatal serum. Conclusion: The presented case is an example of severe fetal toxoplasmosis diagnosed and treated in utero.

Prenatal diagnosis and follow-up of 23 cases of cardiac tumors

To evaluate the prenatal characteristics and postnatal outcome of cardiac tumors diagnosed at two prenatal Polish cardiology centers.

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

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).

Perinatal echocardiography: protocols for evaluating the fetal and neonatal heart.

Abstract This Protocol for Evaluating the Fetal and Neonatal Heart details the indications, views, and measurements to be obtained for both (1) the basic screening examination of the fetal heart (a necessary component of all complete fetal anatomy evaluations) and the specialty study called (2) echocardiography as applied to either the fetus or neonate, using 2D and Doppler ultrasound. While the purpose of the screening study is to detect or exclude the possibility of a cardiac abnormality, echocardiography attempts to diagnose the specific anatomic and physiologic disruption. Also emphasized is the value of a collaborative team approach to management of the fetus and its parents when a cardiovascular anomaly is present, in an effort to achieve a smoother transition from fetus to neonate across the continuum of perinatal care.

Prenatal Diagnosis of Partial Anomalous Pulmonary Venous Connection by Detection of Dilatation of Superior Vena cava in Hypoplastic Left Heart

A 27-week fetus was given targeted fetal echocardiography due to an abnormal four-chamber view. A complex heart malformation was seen with two atria, a single ventricle, and aortic and mitral atresia. In addition to intracardiac findings, a dilated superior vena cava (SVC) was seen, suggesting a possible abnormal pulmonary venous connection to the SVC. An increased venous flow (up to 90 cm/s) was recorded as well. The course of pregnancy was uneventful and the baby was delivered vaginally at term. Cardiac surgery was planned but the baby died on 4th day of life. The autopsy findings confirmed both intracardiac anomalies as well as partial anomalous venous connection to SVC, with no apparent obstruction. This is the first report which stresses that dilatation of the fetal SVC may be suspicious for partial abnormal pulmonary venous connection during prenatal life.

The three-vessel view in the fetal mediastinum in the diagnosis of interrupted aortic arch.

Interruption of the aortic arch (IAA) is difficult to detect and diagnose in utero. However, prenatal diagnosis may be beneficial because IAA is rapidly fatal (median age, 10 d) if left uncorrected. Our objective was to review the direct and indirect echocardiographic markers associated with IAA, focusing on the importance of the three-vessel view (3VV), which is obtained during routine ultrasound examination to rule out malformations. We analyzed the fetal echocardiograms of nine fetuses and compared them with 56 normal controls. In each fetus, there was a large discrepancy between the diameter of the larger, dilated pulmonary artery (PA) and smaller, narrow aortic arch (Ao). The calculated ratio of PA/Ao in fetuses with IAA was 2.6 ± 0.4 compared with 1.1 ± 0.09 in normal controls (p < 0.0001). The calculated ratio of PA/Ao in fetuses with IAA type A was 2.1 ± 0.09 and IAA type B 2.9 ± 0.2 (p = 0.0007). Discrepancy between PA/Ao diameters should raise the suspicion of aortic arch anomalies and a large discrepancy is a nearly pathognomonic sign of IAA type B.

Can We Suspect Fetal Down Syndrome by Heart Evaluation during the Second Half of Pregnancy

Thirty fetuses with Down syndrome, who had detailed fetal echocardiography and sonography at the tertiary center with videotape recordings, were retrospective analyzed by one observer with a specially prepared flow sheet. The mean gestational age of the fetuses at the time of the study was 31 ± 5.6 (minimum 21, maximum 39) weeks. The ‘main’ fetal abnormalities were congenital heart defect (CHD): in 13 cases (43.3%) an abnormal 4-chamber view was recorded, including 6 cases (20%) of isolated CHD and 7 (23.3%) of coexisting CHD + extracardiac malformation. Of the 13 cases of CHD, there were 12 cases of atrio-ventricular canal and 1 case of ventricular septal defect. Normal heart anatomy was recorded in 17 cases (56.7%), including 2 with tricuspid value regurgitation. From the videotape recordings also some ‘minor’ abnormalities were noticed in a few cases such as: femur length shortening; sandal gap; pericardial effusion; macroglossia; echogenic bowel; absent diastolic flow in the umbilical artery, and others. The prevalence of CHD in the study group was similar to the prevalence of CHD in the comparison group of 20 newborns with Down syndrome, born during the same period of time at the same institution, who had not had prenatal scanning at all (χ2, p > 0.05). Conclusions: (1) the main ‘major’ abnormality which might be detected in a fetus with Down syndrome after 20 weeks of pregnancy is CHD, which was presented in 43.3% of this series; (2) the presence of any extracardiac malformation should prompt the sonographer for detailed heart evaluation, and (3) fetal echocardiography may increase the accuracy of ‘genetic sonogram’ in Down syndrome.

Retrospective chart review of 44 fetuses with cervicofacial tumors in the sonographic assessment

OBJECTIVES The aim of this retrospective study was to review and analyze ultrasonography examinations and follow-up of fetuses with cervicofacial tumors to develop bases for counseling specialist involved in perinatal treatment. METHODS The study consisted of case series with chart review of 44 fetuses with cervicofacial tumors diagnosed in utero by ultrasonography. The study was carried in Department of Diagnosis and Prevention of Congenital Malformations, Medical University of Lodz in years 1998-2013. The analysis of the fetuses with cervicofacial tumors included assessment of fetal sonographic features, neonatal survival and in utero as well as perinatal treatments. The obtained data were analyzed by the standard statistical tests and the Pearsons Chi square test, statistical significance at p=0.05. RESULTS Cervicofacial tumors were detected at mean 19±7 weeks of gestation. Eighty-two percent of the fetuses were males. Lymphatic malformations followed by teratomas were the most common fetal tumors in the cervicofacial region. In most cases, fetuses with cervicofacial tumors had other abnormalities. Mortality rate in our case series was 43%. In utero treatment was introduced in 6 fetuses. In 4 neonates prenatal sonographic assessment revealed upper airway patency and EXIT procedure (ex-utero intrapartum treatment) was introduced. CONCLUSION Prenatal sonographic detection of cervicofacial tumor, in case of lymphatic malformations possibly as early as in the first trimester, in case of craniofacial teratomas, cervical teratomas, hemangiomas and thyroid tumors possibly as early as in the second trimester, and in case of epignathi possibly in the third trimester, permits planning further course of pregnancy as well as EXIT procedure before delivery.

The role of prenatal ultrasound assessment in management of fetal cervicofacial tumors.

Ultrasound prenatal examination enables one to assess the facial skeleton and the neck from the first weeks of gestation. Cervicofacial tumors detected via prenatal ultrasound are very rarely reported fetal pathologies. They include cystic hygromas, teratomas, epulides, vascular tumors, and thyroid tumors. The tumor category, its location and vascularization pattern allow one to accurately establish a diagnosis which is usually confirmed by clinical examination of the neonate or a pathological examination (surgical specimen, biopsy, autopsy). The prenatal ultrasound diagnosis of cervicofacial tumor in the fetus allows planning of pregnancy management and fetal therapy, preparation of the delivery, and perinatal as well as neonatal treatment.