Abstract The paper presents a description of the development of the human heart based on the present state of knowledge cytogenetics and molecular genetics. Despite the complexity of the genetic mechanisms described, the authors emphasize that it may be just a slice patterns in kardiogenezie. Aberrations and mutations lead to the formation of congenital heart defects in both isolated and components of genetic syndromes.
{"title":"An Outline of Cardiogenesis","authors":"K. Piotrowski, K. Mȩdrek, S. Zajączek","doi":"10.12847/03141","DOIUrl":"https://doi.org/10.12847/03141","url":null,"abstract":"Abstract The paper presents a description of the development of the human heart based on the present state of knowledge cytogenetics and molecular genetics. Despite the complexity of the genetic mechanisms described, the authors emphasize that it may be just a slice patterns in kardiogenezie. Aberrations and mutations lead to the formation of congenital heart defects in both isolated and components of genetic syndromes.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2014-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125416253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
I. Strzelecka, J. Moll, K. Kornacka, A. Zieliński, M. Respondek-Liberska
Abstract 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.
{"title":"Does Evolving Fetal Heart Defects Pose a Separate Clinical Problem?","authors":"I. Strzelecka, J. Moll, K. Kornacka, A. Zieliński, M. Respondek-Liberska","doi":"10.12847/12132","DOIUrl":"https://doi.org/10.12847/12132","url":null,"abstract":"Abstract 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.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"69 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121003317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
I. Pietrzyk, H. Moczulska, M. Słodki, K. Szaflik, M. Respondek-Liberska
Abstract 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.
{"title":"Is Fetal Echo Usefull in an Inavsive Therapy in Chest Anomalies?","authors":"I. Pietrzyk, H. Moczulska, M. Słodki, K. Szaflik, M. Respondek-Liberska","doi":"10.12847/12133","DOIUrl":"https://doi.org/10.12847/12133","url":null,"abstract":"Abstract 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.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"22 6S 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115947738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The neonatal specialty is different from that of pediatrics as it requires (among other differences) the knowledge of fetal development in terms of physiology and pathology. The neonatologist knows the importance and impact that suboptimal conditions during intrauterine growth have on the baby’s condition at birth. They must anticipate the child’s needs and know what complications can be expected. This is a fundamental issue, because without being able to predict complications, one is unable to counter them, and if they occur, they usually leave a mark in the child’s future condition. The neonatologist should not, and can not say he is uninterested in the future of his young patient, that it is a matter for pediatricians, parents, etc. Let's see how things look in practice.
{"title":"The place for neonatologist in proper perinatal care - commentary","authors":"E. Helwich","doi":"10.1515/PCARD-2015-0011","DOIUrl":"https://doi.org/10.1515/PCARD-2015-0011","url":null,"abstract":"The neonatal specialty is different from that of pediatrics as it requires (among other differences) the knowledge of fetal development in terms of physiology and pathology. The neonatologist knows the importance and impact that suboptimal conditions during intrauterine growth have on the baby’s condition at birth. They must anticipate the child’s needs and know what complications can be expected. This is a fundamental issue, because without being able to predict complications, one is unable to counter them, and if they occur, they usually leave a mark in the child’s future condition. The neonatologist should not, and can not say he is uninterested in the future of his young patient, that it is a matter for pediatricians, parents, etc. Let's see how things look in practice.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"78 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117198825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Soroka, M. Słodki, L. Bartoszewicz, Izabela Krukiewicz- Ruta, Tadeusz Żurawik, A. Dobrzańska
Abstract 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.
{"title":"Premature closure of the ductus arteriosus- case presentation","authors":"M. Soroka, M. Słodki, L. Bartoszewicz, Izabela Krukiewicz- Ruta, Tadeusz Żurawik, A. Dobrzańska","doi":"10.12847/09135","DOIUrl":"https://doi.org/10.12847/09135","url":null,"abstract":"Abstract 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.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"52 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114711191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract 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.
{"title":"The place for neonatologist in proper perinatal care","authors":"M. Kornacka, M. Respondek-Liberska","doi":"10.12847/09132","DOIUrl":"https://doi.org/10.12847/09132","url":null,"abstract":"Abstract 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.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"33 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116445075","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
When one considers the innumerable ways that maternal exposures, ingestions, and diseases can impact a developing fetus, the concept of a “low-risk pregnancy” seems impossible to fathom. The techniques of prenatal diagnosis in particular ultrasound, echocardiography, and genetics are ever evolving, as are their roles in understanding, diagnosing, and managing complicated pregnancies. This review articles presents some of the most common maternal conditions that have an impact on the developing fetal cardiovascular system and the challenges associated with the management of these conditions.
{"title":"Maternal Conditions Affecting the Fetal Heart","authors":"M. Hua, S. Weiner","doi":"10.12847/09131","DOIUrl":"https://doi.org/10.12847/09131","url":null,"abstract":"When one considers the innumerable ways that maternal exposures, ingestions, and diseases can impact a developing fetus, the concept of a “low-risk pregnancy” seems impossible to fathom. The techniques of prenatal diagnosis in particular ultrasound, echocardiography, and genetics are ever evolving, as are their roles in understanding, diagnosing, and managing complicated pregnancies. This review articles presents some of the most common maternal conditions that have an impact on the developing fetal cardiovascular system and the challenges associated with the management of these conditions.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"102 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126701443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract 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.
{"title":"Evaluating the fetal heart: How do we improve?","authors":"D. Wood","doi":"10.12847/06131","DOIUrl":"https://doi.org/10.12847/06131","url":null,"abstract":"Abstract 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.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"59 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132172287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
E. Gora, H. Moczulska, E. Litwinska, M. Słodki, M. 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.
{"title":"Anomalous Pulmonary Venous Return with Stenosis in Complex Left Heart Defect - Lethal Anomaly - 3 Cases Report","authors":"E. Gora, H. Moczulska, E. Litwinska, M. Słodki, M. Respondek-Liberska","doi":"10.12847/03134","DOIUrl":"https://doi.org/10.12847/03134","url":null,"abstract":"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.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"10 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114134778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
L. Dudarewicz, A. Krzymińska, Wanda Hawuła, M. Kozłowska, Urszula Laskowska, A. Gach, M. Borowiec, W. Młynarski, W. Ałaszewski, L. Jakubowski
Abstract Objective of the study: At the moment of study design, there was no data available on prevalence of subtelomeric imbalanced rearrangements in fetuses with abnormal phenotype assessed by ultrasound and with normal classical karyotype, consequently this study was initiated to fill in this gap. Material & Method: Amniotic fluid samples or chorionic villi from: 137 fetuses with abnormalities in two or more organ systems 96 fetuses with nuchal translucency above 3.5 mm (99th centile), 85 apparently healthy fetuses (control group) were studied by subtelomeric MLPA, using two kits (P036 and P070) in all cases. Confirmation of a rearrangement was obtained by means of fluorescence in situ hybridization (FISH) studies. Results: In the group of fetuses with abnormalities in two or more organ systems, one subtelomeric deletion (de novo deletion (del1p36).) was detected, yielding the detection rate of cryptic subtelomeric imbalances in these pregnancies of 0.84%. In the control group and in the group of fetuses with NT measurement above 3.5 mm, no abnormalities were found. Conclusion: The low detection rate of subtelomeric rearrangements in the studied group, together with the low robustness of the method (only one sequence per telomere is studied in one experiment) and necessity to confirm the pathological findings with another method, imply low usefulness of the method in the prenatal setting. In the current era, there are genome-wide methods, like CGH-arrays or SNP-array, which are better-suited for prenatal diagnosis, because of higher yields and lack of necessity of confirmation of the pathological results.
{"title":"Is Subtelomeric MLPA Test (Multiplex Ligation-Dependent Probe Amplification) Useful in Prenatal Diagnosis?","authors":"L. Dudarewicz, A. Krzymińska, Wanda Hawuła, M. Kozłowska, Urszula Laskowska, A. Gach, M. Borowiec, W. Młynarski, W. Ałaszewski, L. Jakubowski","doi":"10.12847/03133","DOIUrl":"https://doi.org/10.12847/03133","url":null,"abstract":"Abstract Objective of the study: At the moment of study design, there was no data available on prevalence of subtelomeric imbalanced rearrangements in fetuses with abnormal phenotype assessed by ultrasound and with normal classical karyotype, consequently this study was initiated to fill in this gap. Material & Method: Amniotic fluid samples or chorionic villi from: 137 fetuses with abnormalities in two or more organ systems 96 fetuses with nuchal translucency above 3.5 mm (99th centile), 85 apparently healthy fetuses (control group) were studied by subtelomeric MLPA, using two kits (P036 and P070) in all cases. Confirmation of a rearrangement was obtained by means of fluorescence in situ hybridization (FISH) studies. Results: In the group of fetuses with abnormalities in two or more organ systems, one subtelomeric deletion (de novo deletion (del1p36).) was detected, yielding the detection rate of cryptic subtelomeric imbalances in these pregnancies of 0.84%. In the control group and in the group of fetuses with NT measurement above 3.5 mm, no abnormalities were found. Conclusion: The low detection rate of subtelomeric rearrangements in the studied group, together with the low robustness of the method (only one sequence per telomere is studied in one experiment) and necessity to confirm the pathological findings with another method, imply low usefulness of the method in the prenatal setting. In the current era, there are genome-wide methods, like CGH-arrays or SNP-array, which are better-suited for prenatal diagnosis, because of higher yields and lack of necessity of confirmation of the pathological results.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2013-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132393466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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