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.
Iwona Strzelecka, Jadwiga Moll, Katarzyna Kornacka, Andrzej Zieliński and Maria Respondek-Liberska
A retrospective analysis of medical records of selected 83 cases (pregnant women and fetuses of patients from the database of the Department of Diagnosis and Prevention of Congenital Malformations ICZMP in Lodz in the years 2007-2012) who had minimum 2 echocardiographic exams. In this group 220 echocardiography exams were performed: in 62 fetuses 2x and in 21 fetuses 3x or more. After exclusion of intrauterine demises and terminated pregnancies, 72 cases have been qualified for further analysis. Heart defects in this material were initially divided into four groups: the most serious defects, critical, serious and evolving. Group of the most serious defects was excluded from the 2nd stage of analysis. An attempt to subtract the group of “evolving” heart defects from the group of severe and critical defects was conducted. This group of defects was initially classified as “severe evolving to the critical”, as hemodynamics progression was observed during intrauterine life. Mortality in the subgroup of evolving defects was 71.4 %, in the group of critical defects 36.8 % and in the group of heavy defects 34.4 % ( chi-square test 0.05). In the group of evolving defects the mortality rate after cardiac surgery was :7/11 infants (63 %) and in the group of severe defects 7/26 (26.9 % ) (Fisher test 0.018). There were no other differentiating features found within the statistical analysis of the study groups.
Conclusions: Prenatal classification of fetal heart defects based on echocardiographic monitoring allows to observe the progression of hemodynamic changes in selected fetuses. This group of defects was encumbered with the greatest mortality in the neonatal and postoperative period.
Magda Rybak-Krzyszkowska, Hanna Moczulska, Patrycja Pilch, Agnieszka Gach, Rita Tomczyk, Joanna Korabel and Maria Respondek-Liberska
Triploidy is a disorder involving the occurrence of an additional set of chromosomes in cells. It is accompanied by multiple fetal and placental anatomical abnormalities. Triploidy typically leads to embryos or fetuses being miscarried in an early stage of pregnancy. Fetuses with this abnormality rarely survive until the third trimester. The case studies of two pregnancies diagnosed prenatally with triploidy are presented below in the context of the identified abnormalities and relevant literature.
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.
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.
Congenital anomalies of development are an important issue in terms of both medical and social problems. In Poland in the years 2004-2012, an increase of detection of congenital heart defects in the form of HLHS (in 2004 - 22 fetuses, in 2006 - 38 fetuses, in 2008 - 66 fetuses, in 2010 - 69, in 2012 - 79 fetuses was observed). In 2012, the Nationwide Registry of Fetal Cardiac Pathology in the form of heart defect HLHS occupied first place among the most frequently detected heart defects, 10.2% of all registered patients with heart defects.
Prenatal diagnosis and the possibility to detected and diagnose fetal abnormalities or abnormal fetal growth, created a new era in obstetrics and in neonatology. The most difficult problem for neonatologists in current perinatal care is lack of information about prenatal investigation and/or very late incorporation in the process of perinatal care. There is a need to create a special protocol in medical records which unites the obstetrical medical record and neonatal medical record in case of important prenatal findings.