Maria Kornacka and Maria Respondek-Liberska
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.
Meiling Hua and Steward Weiner
Paulina Kordjalik and Maria Respondek-Liberska
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.
Hanna Moczulska, Małgorzata Piotrowicz, Katarzyna Janiak, Lucjusz Jakubowski and Maria Respondek-Liberska
Noonan syndrome is a frequent genetic disorder with autosomal dominant transmission. It is mainly characterized by congenital heart defects, short stature, and a variable degree of developmental delay. Its symptoms can be observed during fetal life, but most of them are not specific for Noonan syndrome. Cardiac symptoms such as pulmonary stenosis or hypertrophic cardiomyopathy seems to be the most specific. We present a case of Noonan syndrome monitored during fetal live using prenatal echocardiography with a brief review of the literature.
Lech Dudarewicz, Lucjusz Jakubowski, Tatiana Chilarska, Nina Wieczorek-Cichecka, Wanda Hawuła, Magdalena Kozłowska, Mariusz Grzesiak and Piotr Hincz
Wolf-Hirschhorn syndrome (WHS, MIM 194190) is caused by the loss of the genetic material of the distal segment of chromosome 4p. We present a case of the fetus diagnosed in the second trimester of pregnancy by genetic amniocentesis which was prompted by abnormalities detected on ultrasound.
Monika Wojtyra, Jadwiga Moll and Maria Respondek-Liberska
Hypoplastic Left Heart Syndrome (HLHS) is the most common heart defect in the population of fetuses and majority of Polish women deceided to continue their pregnancies despite prenatal diagnosis.
The aim of the study:
Are there any differences in newborns with HLHS after prenatal diagnoses and with postnatal diagnoses, operated on in ICZMP (Polish Mother’s Memorial Hospital) in Lodz in the years 2005-2010.
Material and Methods:
A retrospective analysis of medical records of 155 newborns from the subdivision of Anaesthesiology and Paediatric Intensive Care (ICZMP) in two groups: prenatally diagnosed (n = 87) and without prenatal diagnosis (n = 68).
Newborns were born with normal birth weights, in two groups prenatal and postnatal (3109.5 ± 494.8g vs. 3258.6 ± 443.1 g, p = 0.06 ). Most of them (85%) were born on time and in good condition (9-10 points on the Apgar). The surgery was performed earlier in prenatal group (p = 0.0364). The chance of surgery between 6th and 10th day after birth in prenatal group was twice as high as in the group diagnosed after birth (OR = 2.0 [0.9 - 4.3]). The infant’s average length of stay in the ICU after the first stage of treatment was 8 days and was almost the same in both groups (8,0 [5,0 - 20,5] vs. 8,0 - 16,0]; NS). Total mortality was 19.4% and it did not differ in both groups (p = 0.4596). The risk of death in prematurity group was 5x higher than in group of newborns delivered at term (p=0,0073). In prenatal group cardiac surgery was earlier than in group diagnosed after delivery (p=0,0364). Neonates with late surgery had longer hospitalization, compared with early surgery (44 days vs 33 days, p=0,0073). Longer hospital stay means higher hospital cost (for cardiac surgery department circa 3000 zł per 1 patient with HLHS, meaning 90 000 zl per year for 30 patients).
1) The neonatal outcome of newborns with HLHS in ICU, in our center in years 2005-2010, in two groups: after prenatal diagnoses and in postnatal diagnoses, were similar.
2) The main differences were a) an increased risk of death in case of premature delivery (p=0,0073) b) earlier I stage Norwood in prenatal group (p=0,0364) meaning lower costs for single institution, meaning lower costs for the National Health System.
Basic fetal echocardiography as part of the routine anatomy scan is very useful in showing both normal fetal hearts and abnormal cardiovascular physiology and anatomy. In maternal fetal and pediatric cardiology centers where fetal echo is routinely performed, over 97 % of significant anatomic and physiologic anomalies and arrhythmias can be identified. However, most fetuses with these issues are missed at the routine fetal anatomy scan for a variety of reasons. It is therefore incumbent upon those who are facile with the techniques of fetal echo to teach and promote the use of simple training methods by examples. We highly recommend the use of video clips of the fetal heart to show the anatomic and functional relationships of the veins, atria, ventricles and great arteries.
Objective of the study:
To investigate attitude towards fetal echocardiography among mothers, who gave birth to a newborn with congenital heart defect (CHD).
Material & Method:
The study group was formed of mothers, whose newborns were hospitalized in the Cardiology Department of the Polish Mother’s Memorial Hospital in years 2005, 2006, 2011 and 2012, due to CHD. Mothers answered the survey concerning their experience and opinion about fetal echocardiography.
72 mothers answered the survey, and each of them had at least 1 routine USG scan performed during gestation. Fetal echocardiography was performed on 35/69 (50,7%), and was not performed on 34/69 (49,3%) of mothers.
33/72 (45,8%) of congenital heart defects were diagnosed prenatally and 39/72 (54,2%) were not.
34/37 (91,9%) of the mothers preferred to be aware of CHD before delivery and 3/37 (8,1%) did not.
Among mothers who preferred to be aware of CHD before delivery, 18/26 (69,2%) preferred to receive diagnosis in 13.- 14th. week of gestation, 6/26 (23,1%) at 18.-20th. week and 2/26 (7,7%) at 32.-34th. week.
Majority of mothers showed interest in prenatal diagnosis of CHD. (34/37; 91,9%) of mothers wanted to be aware of CHD in prenatal period. Despite of this fact, only 50,7% of mothers underwent fetal echocardiography.
These results suggest, that routine USG examination did not detect CHD sufficiently in the studied group. The factors limiting number of performed fetal echocardiographic examinations need to be investigated