Katarzyna Janiak

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.

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.

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.

Thoracoamniotic Shunts in Macrocystic Lung Lesions: Case Series and Review of the Literature

Objective: To evaluate the efficiency of thoracoamniotic shunts for drainage of macrocystic-type congenital cystic adenomatoid malformation (CCAM). Subjects and Methods: This was a retrospective study of 12 fetuses with a large thoracic cyst treated with thoracoamniotic shunting between 2004 and 2014 in a tertiary fetal therapy center. Medline was searched to identify cases of CCAM treated with thoracoamniotic shunting. Results: In all cases the thoracic cyst was associated with major mediastinal shift, the CCAM volume ratio (CVR) was >1.6, and in eight cases there was associated hydrops. Shunt insertion was successfully carried out in all cases at a median gestational age of 24 weeks (range 18-34). In 10 cases there was live birth at a median age of 38 weeks (range 35-41), but in two hydropic fetuses there was intrauterine death. A literature search identified a total of 98 fetuses with CCAM treated with thoracoamniotic shunting between 1987 and 2016. In the combined data from the previous and the current study, the survival rate was 77% (53 of 69) for hydropic and 90% (37 of 41) for nonhydropic fetuses. Conclusions: The role of thoracoamniotic shunting in macrocystic lung lesions associated with hydrops is well accepted. Intrauterine intervention is also likely to be beneficial in the subgroup of nonhydropic fetuses with a CVR >1.6.

Ultrasound and echocardiographic findings obtained in the second and third trimesters of gestation in fetuses with normal karyotype and increased nuchal translucency.

Introduction Numerous papers have proven that an increased nuchal translucency is connected with a raised risk of chromosomal aberrations, but few analyses are related to the further state of fetuses with a normal karyotype. The aim of the study The aim of the study was to estimate the risk of cardiac defects and other developmental disorders in fetuses with increased nuchal translucency and normal findings of a standard cytogenetic examination. Methods The authors carried out a retrospective analysis of 5183 examinations of 3376 patients who reported to the Department of Diagnosis and Prophylaxis of Congenital Malformations in the Polish Mothers Memorial Hospital in Łódź in the period from January 2008 to March 2011 for prenatal ultrasound and echocardiographic examinations. The authors analyzed the results of the examinations performed in the second and third trimesters of gestation in fetuses with an increased nuchal translucency of ≥3 mm in the first trimester and with a normal karyotype. Results Fifty-seven patients (1.7% of the examined group) fulfilled the criteria necessary to be included in the study. In 31 pregnant women (54%) structural defects or anomalies of the fetus were found. Cardiac anomalies were detected in 17 fetuses (29.8%). The authors detected various types of cardiac defects such as tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, transposition of the great arteries and hypoplastic left heart syndrome. Conclusions In more than half of the fetuses with an increased nuchal translucency (NT ≥ 3 mm) and a normal karyotype, developmental defects of various organs appeared in the further course of pregnancy: mainly heart defects that were either isolated, or accompanied other anomalies.

Terapia płodu- laseroterapia w zespole przetoczenia między bliźniętami /TTTS/.

Wyniki: Pozytywne zakończenie ciąży z przeżyciem przynajmniej jednego płodu po zabiegu uzyskano w 86% przypadków. Przeżywalność dwóch płodów odnotowano w 59,5%. Ogólny odsetek przeżycia płodów wynosił 72%. Powyżej 1 miesiąca przeżyło 59% noworodków – o 3 noworodkach brak danych follow up. Średnia masa urodzeniowa biorcy wynosiła 1828 g, mediana punktów w skali Apgar 8; dawcy-1263 g, Apgar-8. Poważne powikłania neurologiczne obserwowano u 7% (3/42) noworodków, które przeżyły powyżej 1 miesiąca.

Współczesne metody monitorowania dobrostanu płodu w ciąży powikłanej wewnątrzmacicznym zahamowaniem wzrastania.

Intrauterine growth restriction (IUGR) is one of the most important problems in current perinatology. The number of complications such as intrauterine fetal hypoxia, preterm and operative labours, intrauterine demises and neonatal deaths are signifcantly higher among pregnant women with IUGR. The proper monitoring and assesement of the fetal well-being are crucial to make the right decision about optimal time and mode of delivery.

Fifty Five Fetuses with D-TGA and their Follow-Up in Single Fetal Cardiac Tertiary Center and Review of the Data from Polish National Registry for Fetal Cardiac Anomalies (WWW.Orkp.Pl)

Abstract In the Polish National Registry for Fetal Cardiac Pathology d-TGA ranked in 5th place on the list of most common heart defects after HLHS, AVSD, VSD and TOF and accounted for 3,5% of all registered cardiac malformations. The following increase in the detection of d-TGA in Poland was observed: 8 fetuses in 2006, 20 fetuses in 2008, 30 fetuses in 2012 (p<0,05, McNemara test). The aim of this study was to analyze selected fetal and neonatal data in a group of 55 patients with d-TGA in the years 1997-2012 in the single reference prenatal cardiology center, type C (> 120 prenatal CHD per year). Mean gestational age was 28,2+/-4,7 weeks, which decreased from 36st week (in 2007) to 30th week (in 2012) (p=0,006; ANOVA & post hoc NIR test). Demise in utero, termination of pregnancy, demise before cardiac surgery (4%) and postoperative deaths (2%) were taken into account (p >0,05 test χ2). Rashkind procedure during 48h after delivery was performed in 36% of neonates. Conclusion: In the past 12 years we have observed a tendency to better detection of prenatal d-TGA (p <0,05) and to identify d-TGA at earlier gestational age (p=0,006). “Hidden mortality” (before surgery) was higher than postoperative mortality in the neonatal period, however statistically the difference was not significant (p>0,05).

„Słoniowacizna nóżki” płodu – naczyniak kapilarny u noworodka – opis przypadku

Streszczenie Przedstawiamy pierwszy w polskim piśmiennictwie przypadek prenatalnej diagnostyki ultrasonograficznej naczyniaka kapilarnego. U plodu 29-letniej ciezarnej (CI, PI), w rutynowym badaniu USG w 34 tyg. poloznik opisal zmiane torbielowato-litą okolicy pośladka lewego i z podejrzeniem potworniaka okolicy krzyzowej skierowal ciezarną do ośrodka referencyjnego. W badaniu USG + ECHO serca plodu wykonanym w 37 tyg. ciązy zmieniono wstepne rozpoznanie, opisując sloniowacizne nozki plodu, przy prawidlowej budowie i funkcji ukladu krązenia. Po konsultacji wielospecjalistycznej odstąpiono od badania NMR u plodu, a ze wzgledu na szybką progresje zmian w ciągu ostatnich 3 tygodni, zadecydowano o rozwiązaniu ciązy drogą planowego ciecia cesarskiego. Noworodek plci zenskiej urodzil sie w stanie ogolnym dobrym, ze znacznym obrzekiem i zasinieniem lewej nogi (od stopy do pośladka). W badaniu ultrasonograficznym stwierdzono obecnośc naczyniaka kapilarnego konczyny dolnej lewej. Dziewczynka zostala przeniesiona do Kliniki Onkologii Centrum Zdrowia Dziecka, gdzie pomimo proby terapii zmarla w wieku 3 miesiecy.