The Experts below are selected from a list of 1287 Experts worldwide ranked by ideXlab platform
Catherine Thong Vanh - One of the best experts on this subject based on the ideXlab platform.
-
Deciphering the Causal Diagnosis of Hydrops Fetalis or Unexplained Fetal Anemia Using Targeted Next Generation and Exome Sequencing
Blood, 2019Co-Authors: Julie Galimand, Helene Bourdeau, Odile Fenneteau, Sophie Dreux, Nathalie Couque, Séverine Drunat, Serge Pissard, Thierry Leblanc, Anne Lambilliotte, Catherine Thong VanhAbstract:Fetal anemias are serious complications during pregnancies, which could lead to fetal death in case of Hydrops fetalis (1/3000 pregnancies). Fetal anemia and Hydrops fetalis are in most cases the result of fetal maternal alloimmunization, parvovirus B19 infection, fetal maternal hemorrhage, chromosomal abnormalities, congenital malformations, metabolic diseases, and in the context of hematological disorders, alpha-thalassemia. However, in one case out of 5, fetal anemia remains unexplained after an exhaustive first line of etiological evaluation. In order to identify the cause of the unexplained fetal anemia and to provide advice regarding prenatal diagnosis for next pregnancy, we have developed useful diagnostic tools on fetal blood based on erythrocyte and reticulocyte indices, examination of red cell morphology, flow cytometry (EMA test), osmotic gradient ektacytometry and molecular screening analysis. 43 fetal samples (30 probands) have been referred to our Hematology diagnostic lab in the time span between 2012-2018. In majority of the cases, various analyses were performed on fetal blood (23 out of 43) and in other instances during post-mortem examination following death (17 out of 43). Fetal blood purity was confirmed by microsatellite analysis on both parental and fetal DNAs. Informed consent was obtained from the mother in all cases. In 6 of 43 cases, prenatal diagnosis was performed after identification of the causal mutation responsible for the Hydrops fetalis in the first Fetus. Hydrops fetalis was suspected in 24 cases at the time of fetal sample collection. Red cell morphology and ektacytometry enabled the establishment of clinical diagnostic in two cases (congenital dyserythropoiesis type II (CDAII) and xerocytosis). Molecular screening analysis was performed by Sanger sequencing technique from 2012 to July 2016 and subsequently we designed a targeted Next Generation Sequencing (NGS) library including 74 genes involved in red cell disorders (n=9 Fetuses) and exome sequencing (WES) was performed for 4 Fetuses. Each identified allelic variation was confirmed by Sanger sequencing technique. Molecular Biology analysis (except the 6 prenatal diagnosis cases) was performed on 21 of 37 Fetuses that enabled identification of the molecular defect in 10 Fetuses. Rare red cell disorders were diagnosed in these cases including Diamond-Blackfan anemia (n=2), congenital dyserythropoiesis (n=6) and stomatocytosis (n=2) respectively. No putative pathogenous allelic variation following molecular screening could be identified in 4 Fetuses. In the 6 cases which were screened for the molecular defect previously identified, none of the tested Fetuses exhibited the allelic variation identified in the first Fetus. In summary, targeted-NGS and WES are very valuable tools in the causal diagnosis of Hydrops fetalis dues to unexplained anemia in addition to routine hematological tests (erythrocyte and reticulocyte indices, red cell morphology, flow cytometry, and ektacytometry) and after elimination of the most frequent causes of Hydrops fetalis. This clinical problem is more frequent than has been previously surmised and needs more attention. Disclosures No relevant conflicts of interest to declare.
Xiao-dong Yang - One of the best experts on this subject based on the ideXlab platform.
-
Prenatal ultrasonographic diagnosis and outcome of congenital lung abnormal lesion
Chinese Journal of Ultrasonography, 2008Co-Authors: Cong-ying Chen, Ju-ling Liu, Hua-zuan Wen, Yuan Yao, Xiao-dong YangAbstract:Objective To determine sonographic features and outcome of fetal lung abnormal lesions. Methods Blood supply of the lesion, Fetus Hydrops and other extra-lung anomalies should be evaluated by color Doppler flow image(CDFI) when abnormal lesion was detected in Fetus lung during routine scanning. The Fetus with lung abnormal lesion without Hydrops at the first time scanning should be monitored by ultrasound in every four to six weeks. Results Forty cases Fetus presented lung abnormal lesions, which included 21 cases with hyperechogenic solid masses,15 cases with cystic-solid mixture masses,4 cases with cystic masses. Lesions of 8 cases were demonstrated systemic arterial blood supply arising from the aorta on CDFI and the diagnosis of pulmonary sequestration (PS) were suggested. Seventeen cases lesion that had small size or decreased or disappeared or remained stable in size with gestational age developing had normal neonate. Conclusions CDFI is very useful in detecting abnormal lesion of the fetal lung and differentiating pathology and evaluating the prognosis. The outcome of isolated lung lesion without Hydrops and mediastinal shift that decreased or disappeared or remained stable in size had a good prognosis. Key words: Ultrasonography, prenatal; Lung diseases; Bronchopulmonary sequestration; Cystic adenomatoid malformation of lung,congenital
Zhang Jian-rong - One of the best experts on this subject based on the ideXlab platform.
-
Clinical analysis of 37 cases fetal congenital cystic adenomatoid malformation of the lung
Modern Medical Journal, 2013Co-Authors: Zhang Jian-rongAbstract:Objective: To evaluate the diagnosis and outcome features of congenital cystic adenomatoid malformation of lung.Methods: 37 cases of congenital cystic adenomatoid malformation were founded during the last 10 years by fetal screening.Blood supply of the lesion,Fetus Hydrops and other extra-lung anomalies should be evaluated by color Doppler flow image when cystic lesions were detected.The Fetus with cystic lesions in lung at the first time scanning should be monitored by ultrasound in every four weeks,six of them received magnetic resonance imaging(MRI) examination within 48 hours after ultrasound.Ultrasonography should be run back for two or four weeks.CT was used in neonate to diagnosis congenital cystic lung disease.Results: 11 cases with single cystic lesion,26 cases were multiple.Left lung was implicated in 20 cases,right lung was implicated in 17 cases.6 cases with cystic-solid mixture lesions,2 cases with hydrothorax,5 cases with ascites and edema,1 case with harelip,8 cases with polyhydramnios,1 case with oligohydramnios were founded by ultrasound.Lesions in 16 cases were smaller,disappeared,or remained stable in size with gestational age developing,who had normal neonate,14 cases were on induced labor,1 case was on spontaneous abortion,6 cases were lost to follow-up.Conclusion: Prenatal ultrasonography and MRI are very useful in detecting and monitoring cystic lesions of the fetal lung,evaluating features of congenital cystic adenomatoid malformation.
Julie Galimand - One of the best experts on this subject based on the ideXlab platform.
-
Deciphering the Causal Diagnosis of Hydrops Fetalis or Unexplained Fetal Anemia Using Targeted Next Generation and Exome Sequencing
Blood, 2019Co-Authors: Julie Galimand, Helene Bourdeau, Odile Fenneteau, Sophie Dreux, Nathalie Couque, Séverine Drunat, Serge Pissard, Thierry Leblanc, Anne Lambilliotte, Catherine Thong VanhAbstract:Fetal anemias are serious complications during pregnancies, which could lead to fetal death in case of Hydrops fetalis (1/3000 pregnancies). Fetal anemia and Hydrops fetalis are in most cases the result of fetal maternal alloimmunization, parvovirus B19 infection, fetal maternal hemorrhage, chromosomal abnormalities, congenital malformations, metabolic diseases, and in the context of hematological disorders, alpha-thalassemia. However, in one case out of 5, fetal anemia remains unexplained after an exhaustive first line of etiological evaluation. In order to identify the cause of the unexplained fetal anemia and to provide advice regarding prenatal diagnosis for next pregnancy, we have developed useful diagnostic tools on fetal blood based on erythrocyte and reticulocyte indices, examination of red cell morphology, flow cytometry (EMA test), osmotic gradient ektacytometry and molecular screening analysis. 43 fetal samples (30 probands) have been referred to our Hematology diagnostic lab in the time span between 2012-2018. In majority of the cases, various analyses were performed on fetal blood (23 out of 43) and in other instances during post-mortem examination following death (17 out of 43). Fetal blood purity was confirmed by microsatellite analysis on both parental and fetal DNAs. Informed consent was obtained from the mother in all cases. In 6 of 43 cases, prenatal diagnosis was performed after identification of the causal mutation responsible for the Hydrops fetalis in the first Fetus. Hydrops fetalis was suspected in 24 cases at the time of fetal sample collection. Red cell morphology and ektacytometry enabled the establishment of clinical diagnostic in two cases (congenital dyserythropoiesis type II (CDAII) and xerocytosis). Molecular screening analysis was performed by Sanger sequencing technique from 2012 to July 2016 and subsequently we designed a targeted Next Generation Sequencing (NGS) library including 74 genes involved in red cell disorders (n=9 Fetuses) and exome sequencing (WES) was performed for 4 Fetuses. Each identified allelic variation was confirmed by Sanger sequencing technique. Molecular Biology analysis (except the 6 prenatal diagnosis cases) was performed on 21 of 37 Fetuses that enabled identification of the molecular defect in 10 Fetuses. Rare red cell disorders were diagnosed in these cases including Diamond-Blackfan anemia (n=2), congenital dyserythropoiesis (n=6) and stomatocytosis (n=2) respectively. No putative pathogenous allelic variation following molecular screening could be identified in 4 Fetuses. In the 6 cases which were screened for the molecular defect previously identified, none of the tested Fetuses exhibited the allelic variation identified in the first Fetus. In summary, targeted-NGS and WES are very valuable tools in the causal diagnosis of Hydrops fetalis dues to unexplained anemia in addition to routine hematological tests (erythrocyte and reticulocyte indices, red cell morphology, flow cytometry, and ektacytometry) and after elimination of the most frequent causes of Hydrops fetalis. This clinical problem is more frequent than has been previously surmised and needs more attention. Disclosures No relevant conflicts of interest to declare.
Cong-ying Chen - One of the best experts on this subject based on the ideXlab platform.
-
Prenatal ultrasonographic diagnosis and outcome of congenital lung abnormal lesion
Chinese Journal of Ultrasonography, 2008Co-Authors: Cong-ying Chen, Ju-ling Liu, Hua-zuan Wen, Yuan Yao, Xiao-dong YangAbstract:Objective To determine sonographic features and outcome of fetal lung abnormal lesions. Methods Blood supply of the lesion, Fetus Hydrops and other extra-lung anomalies should be evaluated by color Doppler flow image(CDFI) when abnormal lesion was detected in Fetus lung during routine scanning. The Fetus with lung abnormal lesion without Hydrops at the first time scanning should be monitored by ultrasound in every four to six weeks. Results Forty cases Fetus presented lung abnormal lesions, which included 21 cases with hyperechogenic solid masses,15 cases with cystic-solid mixture masses,4 cases with cystic masses. Lesions of 8 cases were demonstrated systemic arterial blood supply arising from the aorta on CDFI and the diagnosis of pulmonary sequestration (PS) were suggested. Seventeen cases lesion that had small size or decreased or disappeared or remained stable in size with gestational age developing had normal neonate. Conclusions CDFI is very useful in detecting abnormal lesion of the fetal lung and differentiating pathology and evaluating the prognosis. The outcome of isolated lung lesion without Hydrops and mediastinal shift that decreased or disappeared or remained stable in size had a good prognosis. Key words: Ultrasonography, prenatal; Lung diseases; Bronchopulmonary sequestration; Cystic adenomatoid malformation of lung,congenital