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Małgorzata Soroka and Maciej Słodki

Abstract

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.

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Maciej Słodki and Maria Respondek-Liberska

Open access

Maciej Słodki and Maria Respondek-Liberska

Abstract

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.

Open access

Małgorzata Sabatowska, Małgorzata Soroka and Maciej Słodki

Abstract

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.

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Maciej Słodki and Maria Respondek-Liberska

Abstract

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.

Open access

Katarzyna Pośpiech-Gąsior, Maciej Słodki and Maria Respondek-Liberska

Abstract

Cantrell’s pentalogy is a congenital defect characterized by uncompleted fusion of the anterior chest wall, resulting in an extrathoracic location of the heart. Ultrasound diagnosis during the first trimester of prenatal life is possible, and termination of pregnancy is usually chosen by pregnant women. We analysed 57 fetuses: 56 from literature and one additional recent case from our institute (from 2016) to evaluate what was the survival rate reported after prenatal diagnosis, including the possibility to terminate the pregnancy, intrauterine deaths and neonatal deaths. We found 10 survivors - 18% since 1984.

Despite dismal prognosis of fetal ectopia cordis, there is a chance for postnatal survivorship probably due to evolving anatomical structures, not only in the first trimester of pregnancy but also during the following weeks of prenatal life.

Open access

Ewa Góra, Hanna Moczulska, Ewelina Litwińska, Maciej Słodki and Maria Respondek-Liberska

Abstract

In prenatal cardiology center 3 cases of anomalous pulmonary venous return with pulmonary venous stenosis were diagnosed on the basis of continues Doppler blood flow (V max >100 cm/sec). In each of 3 cases left heart defect was diagnosed at 29th, 35th and 36th week of gestation. In each case newborn died on the 1st or 2nd day of life before qualification to cardiac surgery. At present, anomalous pulmonary venous return with pulmonary venous stenosis and complex heart defect in fetus seems to be lethal cardiac defect.

Open access

Iwona Strzelecka, Maciej Słodki, Andrzej Zieliński, Iwona Maroszyńska and Maria Respondek-Liberska

Abstract

Introduction:

Prenatal diagnosis is an integral part of modern perinatal care. In the article results of questionnaires pertaining to the prenatal process of diagnosis are presented. Parents whose children were afflicted with congenital malformations of all types responded to enquiry

Materials and methods:

Between March 2014 and March 2015 150 of 355 infants were hospitalized in the Department of Pediatric Intensive Care and Congenital Malformations in Łódź, and 150 had congenital malformations.

Results:

101 parents of 150 children (67,3%) have given the feedback. Anomalies were such as: of the digestive system (37%), CHD (25%), OUN (14 %), genito-urinary (13%), skeletal system (9%) and respiratory system (2%). In 65 children of 101 the defects were detected prenatally. The obstetric US exam was the most frequently pointed out as performed (more than 1200). The biochemical markers and genetic tests in were performed in 34 pregnancies. The high percentage of ability to detect malformation was reported in the group of fetal echo examinations.

Conclusions:

1. Prenatal ultrasound exams were the least effective method of making appropriate prenatal diagnosis of congenital malformation.

2. Fetal echocardiography had a high level of sensitivity and specificity in detecting congenital malformations.

3. Prenatal cardiologists proved to be the most effective in detecting congenital malformations 89,3 % of detected abnormalities.

4. Biochemical exams had a positive result in only one case of Down Syndrome.

Open access

Małgorzata Soroka, Maciej Słodki, Hanna Moczulska and Maria Respondek-Liberska

Abstract

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).

Open access

Maria Respondek-Liberska, Katarzyna Janiak, Maciej Słodki, Hanna Moczulska and Jadwiga Moll

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).