The authors report of an 8-year-old girl with non-mosaic Patau syndrome. The median life expectancy of Patau syndrome is 7-10 days, and 90% die in the first year of life. Survival is often attributed to mosaicism and the severity of associated malformations. We delineate the developing phenotype and review the literature discussing potential contributory factors to longevity.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543265 | PMC |
http://dx.doi.org/10.1136/bcr-06-2011-4381 | DOI Listing |
Ultrasound Obstet Gynecol
January 2025
Center for Fetal Care and High-Risk Pregnancy, University of Chieti, Chieti, Italy.
Objective: To report the diagnostic accuracy of cell-free fetal DNA (cfDNA) in detecting fetal chromosomal anomalies in women experiencing miscarriage.
Methods: PubMed, MEDLINE, EMBASE and Cochrane databases were searched from inception to June 2024. The inclusion criteria were women experiencing miscarriage (defined as pregnancy loss before 20 weeks of gestation) who underwent cfDNA screening for trisomies 21, 18 and 13, other autosomal aneuploidies, sex-chromosome aneuploidies and/or copy-number variants (CNVs).
Paediatr Anaesth
December 2024
Department of Anaesthesiology and Intensive Care, Children's Health Ireland at Crumlin, Dublin, Ireland.
Eur J Obstet Gynecol Reprod Biol
November 2024
Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden. Electronic address:
Rev Paul Pediatr
October 2024
Faculdade Ciências Médicas de Minas Gerais, Post-Graduate Program in Health Sciences, Belo Horizonte, MG, Brazil.
J Obstet Gynaecol Res
November 2024
Division of Obstetrics and Gynaecology, Department of Reproductive and Developmental Medicine, Akita University Graduate School of Medicine, Akita, Japan.
Aim: We aimed to assess the amniotic fluid glucose concentration cut-off as an indicator of fetal chromosomal abnormalities, such as trisomy 13, 18, and 21.
Methods: This prospective observational study included pregnant females who underwent amniocentesis. Participants were divided into two groups on the border of 22 weeks of gestational age (<22 and ≥22-week groups).
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