ArticleMolecular genetics & genomic medicine2022
Noninvasive prenatal diagnosis based on cell-free DNA for tuberous sclerosis: A pilot study.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 8 citations in OpenAlex.
- Donor-derived cell-free DNA in solid organ transplantation: analytical considerations, diagnostic performance, and clinical interpretation.Clinical transplantation and research · 2025Review
- Noninvasive prenatal diagnosis based on cell-free DNA for tuberous sclerosis: A pilot study.Molecular genetics & genomic medicine · 2022Article
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10 authors at 3 institutions in 1 country.
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Abstract
backgroundNoninvasive prenatal diagnosis (NIPD) based on cell-free DNA (cfDNA) has been introduced into the clinical application for some monogenic disorders but not for tuberous sclerosis (TSC) yet, which is an autosomal dominant disease caused by various variations in TSC1 or TSC2 gene. We aimed to explore the feasibility of NIPD on TSC.
methodsWe recruited singleton pregnancies at risk of TSC from 14 families with a proband child. Definitive NIPD for TSC was performed using targeted next-generation sequencing of cfDNA in parallel with maternal white blood cell DNA (wbcDNA). The NIPD results were validated by amniocentesis or postnatal gene testing and follow-up of the born children.
resultsMissense mutations, nonsense mutations, frameshift mutations, and splice-site variants which were obtained through de-novo, maternal, or paternal inheritance were included. The mean and minimum gestational weeks of NIPD were 17.18 ± 5.83 and 8 weeks, respectively. The NIPD results were 100% consistent with the amniocentesis or postnatal gene testing and follow-up of the born children.
conclusionThis study demonstrates that NIPD based on cfDNA is feasible for TSC, but required to be confirmed with more samples. Studies on TSC can contribute to the application and promotion of NIPD for monogenic disorders.
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