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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.

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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

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

Anna Augustyniak, Maciej Słodki, Wojciech Krajewski, Jacek Moll and Maria Respondek-Liberska

Abstract

Material and Methods: A retrospective analysis of 41 patients with congenital heart defect IAA from ICZMP in Lodz in the years 2003-2012, including 15 (36.6%) after prenatal diagnosis.

Results: An average of 4 newborns with IAA were operated annually, in the years 2003 -2009 postnatal diagnosis dominated, from 2010 prenatal diagnosis. In the group, n = 15 fetuses with IAA, heart size was normal: Avg 0.33 + / -0.05 HA / CA. Cardiovascular endurance in the CVPS : 8 - 10 points Avg. 9.56 + / -0.73. Infants in the "prenatal" group were often delivered by CS (64.3%), and infants diagnosed postnatally, often by spontaneous delivery (76.9%). In the prenatal group 100% of newborns received prostaglandin E1 from day one, and the "postnatal" group at an average of 6th day. In the "prenatal" group the dose of PGE: 0.02 ug / kg / min, in the "postnatal" group the average dose was> 2 x higher 0,042 mg / kg / min. A statistically significant relationship was shown: between the day of administering prostaglandin E1 and the number of postoperative recovery hospitalization days of the newborn with IAA.

Di George Syndrome occurred in 40% in the "prenatal" and in 15.4% in the "postnatal" group. Cardiac operations in the "prenatal" group were performed at average 19th day, and at average 21st day in the "postnatal" group. Infants in the "prenatal" group remained in the postoperative recovery room an average of 7.85 + / -3.98 days, and those from the “postnatal” group an average of 8.38 + / -3.94 days (p = 0.6212). There were 3 deaths (7.3%): 1 patient diagnosed prenatally and 2 postnatally. Neonates with IAA in the "prenatal" group remained in the hospital on average: 43.69 + / - 4.82 days and 39.54 + / -3.75 days in the "postnatal" group. After cardiac surgery, hospitalization in the "prenatal" group amounted to an average of 25.2 days in the "postnatal" 26.7 days.

Conclusions: 1. The prenatal diagnosis of IAA was grounds to start the administration of prostaglandin E1 on the first day of life, and in the "postnatal" group the administration of prostaglandin followed on average 6 days after birth, the "postnatal" dose was 2 x higher. 2. A statistically significant correlation was demonstrated between the day of prostaglandin E1 commencement and the number of hospitalization days of the newborn with IAA in the postoperative recovery room, the length of hospital stay in the ICU and sometimes full hospitalization.

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).

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

Katarzyna Więckowska, Katarzyna Zych-Krekora, Maciej Słodki and Maria Respondek-Liberska

Abstract

Objectives: Coarctation of the aorta (CoA) is an irreversible congenital heart defect. Its prenatal diagnosis is not rare a subject to false-positive conclusion. We present a novel hypothesis explaining the basis of this error.

Methods: Ten cases of prenatal suspicion of the coarctation of the aorta (based on disproportion at the level of 4 chamber view and mediastinum) coincidenced with the umbilical cord wrapped around the fetal body were found in the Filemaker datebase of the Fetal Cardiology Department. Only single pregnancies were taken into account. In all cases another cardiac and extracardiac malformations were excluded.

Results: The mean maternal age was 29,6 years. The mean gestational age was 33 7/8 weeks. All fetuses were in a good cardiovascular condition. The usual position of the umbilical cord was neck, but they were also location such as nucha, abdomen or lower limb. At birth, all newborns had normal anatomy of the heart. We conclude that the explanation of the false diagnosis was haemodynamic, resulting from the compression of the fetal neck by the umbilical cord that resulted in a disproportion of cardiac blood flow, “mimicking” CoA.

Conclusions:

1. Functional disturbances can mimic prenatal CoA.

2. Umbilical cord position (specially enlacing the fetus neck) should be taken into consideration in suspected cases of fetal CoA.