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Prenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003-2022.
Am J Med Genet A
January 2025
Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
Parents of children with Down syndrome have historically reported poor experiences receiving a prenatal diagnosis. In a 2003 survey, mothers reported that their physicians pitied them, emphasized negative aspects of Down syndrome, and encouraged them to terminate the pregnancy. This study assesses whether parents' perceptions have since improved.
View Article and Find Full Text PDFPromoting Health Equity for Children With Special Health Care Needs and Child Welfare Involvement.
Hosp Pediatr
January 2025
Department of Pediatrics, New York-Presbyterian Morgan Stanley Children's Hospital/Columbia University Irving Medical Center, New York, New York.
Noah, an 18-month-old infant with trisomy 21, was brought to the emergency department for adenovirus bronchiolitis. He was found to meet criteria for severe malnutrition, and his medical team called Child Protective Services (CPS) with concern for neglect. He remained hospitalized for 1 month while a safe discharge was coordinated by the medical and CPS teams.
View Article and Find Full Text PDF[Genetic analysis of a Chinese pedigree with rare mosaic 11q partial duplication and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Obstetrics and Gynecology, the Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China.
Objective: To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.
Methods: A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree.
[Clinical significance of trisomy 7 signaled by non-invasive prenatal testing and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Center of Prenatal Diagnosis, Lianyungang Maternal and Child Health Care Hospital, Lianyungang, Jiangsu 222000, China.
Objective: To explore the clinical significance of trisomy 7 signaled by non-invasive prenatal testing (NIPT).
Methods: Pregnant women with high risk for trisomy 7 by NIPT from January 2017 to December 2023 were selected as the study subjects, and the results of prenatal diagnosis and follow-up were analyzed. Literature related to pregnant women with a high risk for trisomy 7 by NIPT from January 2016 to July 2024 was retrieved from China Biomedical Literature Database, Wanfang Database, China National Knowledge Infrastructure and PubMed database.
Prenatal Predictors and Early Postnatal Outcomes in Fetuses Diagnosed with Tricuspid Atresia.
Diagnostics (Basel)
December 2024
Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Department of Perinatology, Health Science University, Istanbul 34668, Turkey.
To assess the prenatal course and early postnatal outcomes of fetuses diagnosed with tricuspid atresia and to identify predictors of survival. This was a retrospective study of 25 fetuses diagnosed with tricuspid atresia in a single tertiary referral center, evaluating prenatal echocardiographic features and postnatal outcomes. A total of 4 of 29 initially diagnosed fetuses were excluded due to changes in diagnosis or loss to follow-up, leaving 25 fetuses for analysis.
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