Trisomy 9 is a rare chromosomal disorder that often results in significant mortality. We present a case report in a low-risk pregnancy. The prenatal ultrasonography at 12 weeks of gestation showed normal nuchal translucency and the presence of the nasal bone. The anatomy scan performed by an experienced doctor revealed an abnormal four chamber view and abnormal posterior cranial fossa. First trimester biochemical analysis ( free βhCG and PAPP-A) showed high risk for trisomy 18. By amniocenthesis ( at 16 weeks of gestation ) and karyotype evaluation trisomy 9 was diagnosed and at 20 weekstermination was conducted on maternal request.
Hypoplastic left heart syndrome (HLHS) is one of the commonest heart defects detected prenatally in the world. For many years now, it has been at the very top of the list of the commonest foetal heart defects in the Polish National Registry for Foetal Cardiac Pathology (www.orpkp.pl). According to a new classification of foetal heart defects, HLHS - as an isolated heart defect - can be classified into the following three groups: severest heart defects (despite immediate surgical intervention made just after birth, nearly 100% of the infants die); severe heart defects requiring immediate cardiac intervention in a hemodynamics room; and severe heart defects requiring no immediate cardiac intervention (infants are born in a good condition of health and can be prepared for the first stage of their cardiac operation as planned). The present study looks at three cases of HLHS classified into three different groups of the new classification of foetal heart defects. In terms of specialist medical literature written to date, this classification of foetal heart defects from the point of view of prenatal hemodynamics is a novelty; it may help obstetricians and neonatologists working at referral centres to act properly at labour wards.
Małgorzata Sabatowska, Małgorzata Soroka and Maciej Słodki
Congenitally corrected transposition of great arteries is a rare congenital heart defect. The clue of the abnormality is the inversion of the ventricles which caused abnormal atrioventricular and ventriculoarterial connections. This defect is seldom identified prenatally, much more seldom than the simple transposition of the great arteries, even though, we can observe it, on the image of 4 chambers of the heart. Prenatal diagnosis of this defect, at the 24th week of pregnancy and during the routine ultrasound scan, is being described below. The echocardiographical features of the congenitally corrected transposition of great arteries are being presented, with reference to the differences in the image of the 4 chamber view.
Attempts to adapt the classifications of pediatric congenital heart defects (CHD) to prenatal cardiology have been lasting for many years. The paediatric cardiology CHD classifications are mainly based on anatomic details and/or pulmonary blood flow and are not always useful in fetal medicine. Because of these reasons and also many more, adaptation attempts of congenital heart defects of children, from pediatric to prenatal cardiology have not brought desired effects.Clinical course in utero and at delivery can now be predicted, and as a consequence, fetal medicine specialists are being asked to consider the fetus as a patient and the transition to postnatal life is an important part of care. The new prenatal classifications of CHD shows new particular group of CHD, requiring emergent procedure after birth. Thanks to organizing special delivery room with special team of specialist we can much more improve the outcome, especially in severest CHD.
Maria Respondek-Liberska, Katarzyna Janiak, Maciej Słodki, Hanna Moczulska and Jadwiga Moll
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).
Izabella Pietrzyk, Hanna Moczulska, Maciej Słodki, Krzysztof Szaflik and Maria Respondek-Liberska
The aim of this study was to check whether echocardiography is useful in patients with thoracic anomalies undergoing an invasive therapy in utero.
Material and Methods: Retrospective analysis of 42 pregnant women and their fetuses (2003 - 2012), which, due to the chest anomalies had genetic ultrasound and ECHO and then were subjected to an invasive intrauterine therapy.
Results: The mean maternal age was 30.2 years, there were 18 high risk pregnancies and 24 low-risk pregnancies, the average gestational age at diagnosis was 28.2 wks (17 - 38), the average week of delivery was 35 wks (24 - 41), the average birth weight was 2700g (700 - 4050g). The average number of fetuses with chest anomalies undergoing therapy in utero in our center was 4.2 per year. The most common anomaly was hydrothorax, then CALM and DH and one case of AS. Anomalies coexisted with generalized edema, ascites and/or polyhydramnios. Most often shunts and/or decompression of pleural fluid and / or abdominal cavity were performed. Structural heart defects occurred in 6 fetuses and functional anomalies in echocardiography were recorded in 29 fetuses (73%).
Selected group of 19 fetuses had echocardiography before and after surgery. In 14 fetuses hemodynamic improvement was observed and in 5 patients fetal functional changes have persisted. The time from the last treatment to the delivery averaged was 40,2 days (2 to 140).
The follow-up was analyzed in a group of 37 fetuses: there were 2 intrauterine deaths, 11 deaths after delivery and 24 infants were discharged home. Mean hospitalization duration of the live-born infants was 23.7 days (1 - 70). Hospitalization of 14 neonates with hemodynamic improvement after surgery was 25.5 days and in a group of five fetuses with no improvement after surgery, was mean 45.6 days.
Conclusions: The number of fetuses undergoing an invasive therapy due to anomalies of the chest during 2003 - 2012 remained at a similar level (an average of approximately 4 patients per year). Thoracic defects were often accompanied by functional anomalies in the circulatory system. Majority (73%) of fetuses had shown a significant improvement in cardiac efficiency after an invasive treatment. In the group of fetuses in which the interventional procedure has improved cardiovascular hemodynamics, average duration of hospitalization was shorter as compared to the group without haemodynamic improvement (25,5 days versus 45,6), however there was no statistically significant difference.
Małgorzata Soroka, Maciej Słodki, Hanna Moczulska and Maria Respondek-Liberska
DORV [double outlet right ventricle] is defined as a defect in which the great vessels leave entirely or mostly from above the morphologically right ventricle. The proposed by us new prenatal classification of heart defects for the DORV defect including the division into isolated and coexisting with extracardiac defect, facilitates consultation and predicting prognosis for the fetus and newborn. Isolated DORV in fetuses is classified as a severe elective defect (expected cardiac intervention or surgery at 1 month of age) with a relatively good prognosis for newborns, regardless of the type of intracardiac anomalies (in our series of cases 100% survival). DORV in the fetus with coexisting extracardiac defects (ECM) regardless of type of anomaly had poor prognosis (in our study group 100% demise rate).
Małgorzata Soroka, Maciej Słodki, Ludmiła Bartoszewicz, Izabela Krukiewicz- Ruta, Tadeusz Żurawik and Anna Dobrzańska
Spontaneous premature closure of the human fetal ductus arteriosus is an uncommon event that often results in significant morbidity and mortality. We present a case of a fetus with prenatal previously not detected bone defect that presented with idiopathic intrauterine closure of the ductus arteriosus. A 23-year-old mother at 39 weeks of gestation was admitted to the hospital because of an abnormal findings in four chamber screening view of the fetal heart on routine ultrasonography. The fetal echocardiography showed no detectable flow through the ductus arteriosus. Cesarean section was performed 1 hour later. A female newborn weighing 2640g with Apgar scores of 0, 2, 4 and 6 at 1, 3, 5, and 10 minutes, respectively, was delivered.