Prenatal Diagnosis of Ductus Arteriosus Anomalies: A Single-Center Study
AbstractTo evaluate the fetal ductus arteriosus anomalies diagnosed by fetal echocardiography. The perinatal outcomes and associated cardiac and genetic anomalies are also explored. The fetal echocardiography records of 2366 fetuses were evaluated retrospectively. Thirty-seven pregnancies prenatally diagnosed with ductus arteriosus anomalies and evaluated after delivery were enrolled in the study. Perinatal and obstetric outcomes were analyzed. The incidence of ductus arteriosus anomaly in our series was 1.5% (37/2366). The most frequent ductus arteriosus anomaly detected was right-sided ductus arteriosus followed by aneur...
Source: Pediatric Cardiology - December 15, 2023 Category: Cardiology Source Type: research
Genes, Vol. 14, Pages 2212: Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis
In this report, we present a 13-year-old female patient with microcephaly, cleft palate, polydactyly, short stature, triangular facies, frontal bossing, a bulbous nose, an overfolded helix, limited pronosupination, and an anomalous uterus. No neurodevelopmental disorders were reported. A chromosomal microarray analysis of 6.5 million markers was performed in the proband and her parents. The results showed a de novo heterozygous microdeletion of exons 9–14 within RAD21, which confirmed the diagnosis of Cornelia de Lange syndrome type 4. Our patient did not show any neurologic phenotype (until the time of diagn...
Source: Genes - December 14, 2023 Category: Genetics & Stem Cells Authors: Hugo H. Abarca-Barriga Renzo Punil Luciano Flor V ásquez Sotomayor Tags: Case Report Source Type: research
Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulation
Translational Psychiatry, Published online: 14 December 2023; doi:10.1038/s41398-023-02697-8Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulation (Source: Translational Psychiatry)
Source: Translational Psychiatry - December 14, 2023 Category: Psychiatry Authors: Julie Courraud Francesco Russo Gon çalo Espregueira Themudo Susan Svane Laursen Andr és Ingason David M. Hougaard Arieh S. Cohen Thomas Werge Madeleine Ernst Source Type: research
Prenatal diagnosis of developmental and epileptic encephalopathy 9 with a 10.05-Mb microdeletion at Xq21.31q22.1 inherited from mother: A case report and literature review
CONCLUSION: In this case study, we have not only identified the epilepsy type of the woman as DEE9 but have also made an unfavorable prognosis for her fetus. Our findings from this prenatal case provide valuable clinical resources for prenatal diagnosis and genetic counseling, while also implying the potential of CNV-seq as a viable method for uncovering PCDH19-related epilepsy.PMID:38083988 | DOI:10.1002/mgg3.2338 (Source: Molecular Medicine)
Source: Molecular Medicine - December 12, 2023 Category: Molecular Biology Authors: Juan Zhu Zhenzhen Liu Feng Geng Jing Peng Zhimin Li Qin Yang Source Type: research
Prenatal diagnosis of developmental and epileptic encephalopathy 9 with a 10.05-Mb microdeletion at Xq21.31q22.1 inherited from mother: A case report and literature review
CONCLUSION: In this case study, we have not only identified the epilepsy type of the woman as DEE9 but have also made an unfavorable prognosis for her fetus. Our findings from this prenatal case provide valuable clinical resources for prenatal diagnosis and genetic counseling, while also implying the potential of CNV-seq as a viable method for uncovering PCDH19-related epilepsy.PMID:38083988 | DOI:10.1002/mgg3.2338 (Source: Molecular Medicine)
Source: Molecular Medicine - December 12, 2023 Category: Molecular Biology Authors: Juan Zhu Zhenzhen Liu Feng Geng Jing Peng Zhimin Li Qin Yang Source Type: research
Prenatal diagnosis of developmental and epileptic encephalopathy 9 with a 10.05 ‐Mb microdeletion at Xq21.31q22.1 inherited from mother: A case report and literature review
ConclusionIn this case study, we have not only identified the epilepsy type of the woman as DEE9 but have also made an unfavorable prognosis for her fetus. Our findings from this prenatal case provide valuable clinical resources for prenatal diagnosis and genetic counseling, while also implying the potential of CNV-seq as a viable method for uncoveringPCDH19-related epilepsy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 12, 2023 Category: Genetics & Stem Cells Authors: Juan Zhu,
Zhenzhen Liu,
Feng Geng,
Jing Peng,
Zhimin Li,
Qin Yang Tags: CLINICAL REPORT Source Type: research
