Patau syndrome (trisomy 13) is a chromosomal abnormality with multiple malformations due to an additional copy of chromosome 13. This genetic condition has a systemic impact on the development of the human body, which can result in, but is not limited to, microphthalmia, microcephaly, low-set ears, cleft palate, cardiac abnormalities, and abdominal wall defects. It is associated with severe physical and intellectual disabilities and a limited lifespan. Here, we present a 29-year-old female with a high suspicion of the mosaic form of Patau syndrome. She decided to opt for an elective robotic-assisted vaginal hysterectomy (RAVH) due to worsening menorrhagia and recurrent miscarriages. In addition, the importance of medical interventions from surgery to anesthesia is discussed, with their role in improving the quality of life of the patient.
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| http://dx.doi.org/10.7759/cureus.51471 | DOI Listing |
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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).
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Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13.
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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:
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- The objective of the text is to highlight the importance of recognizing and addressing Patau's syndrome through a case study of a 2-year-old patient receiving extensive Home Care services.
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