ArticleActa bio-medica : Atenei Parmensis2020
Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test.
Article in Acta bio-medica : Atenei Parmensis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 9 citations in OpenAlex.
- A Hybrid Artificial Intelligence Approach for Down Syndrome Risk Prediction in First Trimester Screening.Diagnostics (Basel, Switzerland) · 2025Article
- Non-Invasive Prenatal Testing (NIPT): A Paradigm Shift in Prenatal Care.International journal of preventive medicine · 2025Review
- The effect of China's many-child policy on the number of births and the prevalence of serious teratogenic and disabling defects in Hunan Province.BMC public health · 2023Observational
- Dietary supplements in lymphedema.Journal of preventive medicine and hygiene · 2022Review
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Authors and funding
21 authors at 11 institutions in 3 countries.
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Abstract
backgroundFetal abnormalities cause 20% of perinatal deaths. Advances in prenatal genetic and other types of screening offer great opportunities for identifying high risk pregnancies.
methodsThrough a literature search, here we summarise what are the prenatal diagnostic technique that are being used and how those techniques may allow for prenatal interventions.
resultsNext generation sequencing and non-invasive prenatal testing are fundamental for clinical diagnostics because of their sensitivity and accuracy in identifying point mutations, aneuploidies, and microdeletions, respectively. Timely identification of genetic disorders and other fetal abnormalities enables early intervention, such as in-utero gene therapy, fetal drug therapy and prenatal surgery.
conclusionPrenatal intervention is mainly focused on conditions that may cause death or lifelong disabilities, like spina bifida, congenital diaphragm hernia and sacrococcygeal teratoma; and may be an alternative therapeutic option to termination of pregnancy. However, it is not yet widely available, due to lack of specialized centers.
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