Prenatal Detection of 22q11.2 Deletion Syndrome and Congenital Heart Disease
(Source: American Journal of Obstetrics and Gynecology)
Source: American Journal of Obstetrics and Gynecology - November 11, 2023 Category: OBGYN Authors: Lindsay R. Freud, Ronald Wapner, Donna M. McDonald-McGinn Source Type: research
Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?
ConclusionsDespite the low rate of pathogenic chromosomal abnormalities diagnosed prenatally after this ultrasound diagnosis, the risk of chromosomal aberration exceeds the risks of amniocentesis. These data may be helpful in prenatal counseling situations. (Source: Acta Obstetricia et Gynecologica Scandinavica)
Source: Acta Obstetricia et Gynecologica Scandinavica - November 10, 2023 Category: OBGYN Authors: Edouard Leyne,
Olivia Anselem,
P énélope Jordan,
Alexandre J. Vivanti,
Alexandra Benachi,
Laurent Salomon,
Mathilde Jacquier,
Jean‐Marie Jouannic,
Ferdinand Dhombres,
Tatiana Cambier,
Jonathan Rosenblatt,
Emmanuelle Pannier,
François Goff Tags: ORIGINAL RESEARCH ARTICLE Source Type: research
Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report
1P36 deletion syndrome is recognized as the most common terminal microdeletion syndrome in humans, characterized by early developmental delay and consequent intellectual disability, seizure disorder, and disti... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 9, 2023 Category: Genetics & Stem Cells Authors: Huanhuan Yang, Jun Huang, Hao Zheng, Yunfan Zhang, Yuanzhen Zhang, Wei Liu, Jinrong Wu, Xiaobin Chen, Jinfeng Lin, Yanna Ni and Xiaojing Nie Tags: Case Report Source Type: research
Improved outcomes in patients with prenatally detected 22q11.2 deletion syndrome
(Source: American Journal of Obstetrics and Gynecology)
Source: American Journal of Obstetrics and Gynecology - November 9, 2023 Category: OBGYN Authors: Xiang-Yi Jing, Dong-Zhi Li Tags: Letter to the Editors Source Type: research
