Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment?
Current invasive procedures [amniocentesis and chorionic villus sampling (CVS)] pose a risk to mother and fetus and such diagnostic procedures are available only to high risk pregnancies limiting aneuploidy detection rate. This review seeks to highlight the necessity of investing in non invasive pre...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2012-12-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/v10034-012-0013-z |
| _version_ | 1827845234435817472 |
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| author | Avent Neil D. Webb A Madgett TE Miran T Sillence K Kaushik N Kiernan M |
| author_facet | Avent Neil D. Webb A Madgett TE Miran T Sillence K Kaushik N Kiernan M |
| author_sort | Avent Neil D. |
| collection | DOAJ |
| description | Current invasive procedures [amniocentesis and chorionic villus sampling (CVS)] pose a risk to mother and fetus and such diagnostic procedures are available only to high risk pregnancies limiting aneuploidy detection rate. This review seeks to highlight the necessity of investing in non invasive prenatal diagnosis (NIPD) and how NIPD would improve patient safety and detection rate as well as allowing detection earlier in pregnancy. Non invasive prenatal diagnosis can take either a proteomics approach or nucleic acid-based approach; this review focuses on the latter. Since the discovery of cell free fetal DNA (cffDNA) and fetal RNA in maternal plasma, procedures have been developed for detection for monogenic traits and for some have become well established (e.g., RHD blood group status). However, NIPD of aneuploidies remains technically challenging. This review examines currently published literature evaluating techniques and approaches that have been suggested and developed for aneuploidy detection, highlighting their advantages and limitations and areas for further research. |
| first_indexed | 2024-03-12T08:53:42Z |
| format | Article |
| id | doaj.art-4720b474757c44289a37591052981ad1 |
| institution | Directory Open Access Journal |
| issn | 1311-0160 |
| language | English |
| last_indexed | 2024-03-12T08:53:42Z |
| publishDate | 2012-12-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Balkan Journal of Medical Genetics |
| spelling | doaj.art-4720b474757c44289a37591052981ad12023-09-02T16:10:16ZengSciendoBalkan Journal of Medical Genetics1311-01602012-12-0115Supplement172610.2478/v10034-012-0013-zNon Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment?Avent Neil D.0Webb A1Madgett TE2Miran T3Sillence K4Kaushik N5Kiernan M6School of Biomedical and Biological Sciences, Faculty of Science and Technology, A411 Portland Square, Drake Circus, Plymouth, Devon, PL4 8AA, UKSchool of Biomedical and Biological Sciences, University of Plymouth, Plymouth, Devon, UKSchool of Biomedical and Biological Sciences, University of Plymouth, Plymouth, Devon, UKSchool of Biomedical and Biological Sciences, University of Plymouth, Plymouth, Devon, UKSchool of Biomedical and Biological Sciences, University of Plymouth, Plymouth, Devon, UKSchool of Biomedical and Biological Sciences, University of Plymouth, Plymouth, Devon, UKSchool of Biomedical and Biological Sciences, University of Plymouth, Plymouth, Devon, UKCurrent invasive procedures [amniocentesis and chorionic villus sampling (CVS)] pose a risk to mother and fetus and such diagnostic procedures are available only to high risk pregnancies limiting aneuploidy detection rate. This review seeks to highlight the necessity of investing in non invasive prenatal diagnosis (NIPD) and how NIPD would improve patient safety and detection rate as well as allowing detection earlier in pregnancy. Non invasive prenatal diagnosis can take either a proteomics approach or nucleic acid-based approach; this review focuses on the latter. Since the discovery of cell free fetal DNA (cffDNA) and fetal RNA in maternal plasma, procedures have been developed for detection for monogenic traits and for some have become well established (e.g., RHD blood group status). However, NIPD of aneuploidies remains technically challenging. This review examines currently published literature evaluating techniques and approaches that have been suggested and developed for aneuploidy detection, highlighting their advantages and limitations and areas for further research.https://doi.org/10.2478/v10034-012-0013-zaneuploidycell free fetal dna (cff dna)non invasive prenatal diagnosis (nipd) |
| spellingShingle | Avent Neil D. Webb A Madgett TE Miran T Sillence K Kaushik N Kiernan M Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment? Balkan Journal of Medical Genetics aneuploidy cell free fetal dna (cff dna) non invasive prenatal diagnosis (nipd) |
| title | Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment? |
| title_full | Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment? |
| title_fullStr | Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment? |
| title_full_unstemmed | Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment? |
| title_short | Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment? |
| title_sort | non invasive prenatal diagnosis of aneuploidy next generation sequencing or fetal dna enrichment |
| topic | aneuploidy cell free fetal dna (cff dna) non invasive prenatal diagnosis (nipd) |
| url | https://doi.org/10.2478/v10034-012-0013-z |
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