The author presents a new case of trisomy 20 mosaicism in an amniotic fluid culture and emphasizes the special aspects of this chromosomal abnormality. The prenatal diagnosis of "pseudo-mosaicism" is easier when in situ culture techniques are used. Controls of the results on a new sample of amniotic fluid and/or on foetal blood are useful to reinforce the diagnosis and to allow pregnancy to be continued.
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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.
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.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
November 2024
Prenatal Diagnostic Center, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China.
Objective: To explore the value of applying multiple genetic testing techniques for the prenatal diagnosis of Turner syndrome fetuses with complex mosaic small supernumerary marker chromosomes (sSMC).
Methods: Chromosomal karyotypes of amniotic fluid samples from 5 030 pregnant women who had undergone amniocentesis at the Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University from January to December 2022 were retrospectively reviewed. Three fetuses with complex mosaicism fetuses (carrying 2 types of sSMC) were selected as the study subjects.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
November 2024
Central Laboratory for Birth Defects Prevention and Control, Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang 315012, China.
Objective: To explore the genetic basis for a fetus with increased risk for Down syndrome and cardiac anomalies discovered by prenatal ultrasonography.
Methods: A pregnant woman presented at the Women and Children's Hospital of Ningbo University on August 21, 2023 were selected as the study subject. Clinical data were retrospectively analyzed.
Prenat Diagn
December 2024
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
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