{"id":1,"date":"2023-11-08T05:44:11","date_gmt":"2023-11-08T05:44:11","guid":{"rendered":"https:\/\/bellaryfetalmedicinecentre.com\/?p=1"},"modified":"2024-04-14T10:34:11","modified_gmt":"2024-04-14T10:34:11","slug":"hello-world","status":"publish","type":"post","link":"https:\/\/bellaryfetalmedicinecentre.com\/index.php\/2023\/11\/08\/hello-world\/","title":{"rendered":"Importance of DNA storage"},"content":{"rendered":"\n
Dr Rashmi Aravind Patel<\/p>\n\n\n\n
MD Radiodiagnosis<\/p>\n\n\n\n
Fellowship in Fetal Medicine (BFMC)<\/p>\n\n\n\n
Consultant at Bellary Fetal Medicine Centre<\/p>\n\n\n\n
What is DNA storage?<\/h2>\n\n\n\n
DNA extraction<\/strong> is the process of isolating DNA from the cells of an organism isolated from a sample, typically a biological sample such as blood, saliva, or tissue (placental\/ fetal)<\/p>\n\n\n\n
It involves breaking open the cells, removing proteins and other contaminants, and purifying the DNA so that it is free of other cellular components<\/p>\n\n\n\n
\u00a0The purified DNA can then be used for downstream applications such as\u00a0Chromosomal microarray, Clinical exome, and other gene mutation studies<\/p>\n\n\n\n
Why is a prenatal sample better than a postnatal sample?<\/h2>\n\n\n\n
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DNA extraction and storage requires deoxyribonucleic acid (DNA) to be extracted from either the placenta or autopsy tissue for molecular testing. However, the sources and quality of DNA obtained are highly variable <\/li>\n<\/ul>\n\n\n\n
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In the fetal cohort, the placenta had the highest proportion of high-quality DNA samples (93.1%), and the liver had the lowest proportion (35.3%<\/li>\n<\/ul>\n\n\n\n
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There was a statistically significant deterioration in DNA quality with the prolonged time interval between demise and autopsy (\u22655 days)<\/li>\n<\/ul>\n\n\n\n
sika A, Gallagher R, Williams M, Joy C, Lowe E, Price G, Webb L, Marquart L, Pelecanos A, Harraway J, Venter DJ, Armes JE. DNA extraction from placental, fetal, and neonatal tissue at autopsy: what organ to sample for DNA in the genomic era? Pathology. 2019 Dec;51(7):705-710. doi: 10.1016\/j.pathol.2019.09.001. Epub 2019 Oct 18. PMID: 31635948.<\/strong><\/p>\n\n\n\n
Case 1<\/h3>\n\n\n\n
Mrs. P, 24yrs<\/p>\n\n\n\n
O Positive blood group, Consanguinous marriage<\/p>\n\n\n\n
G3P3D3,<\/p>\n\n\n\n
G1 – Twins<\/p>\n\n\n\n
One died at VIMS, Ballari after 5 months<\/p>\n\n\n\n
The other twin was taken to Indira Gandhi Institue in Bangalore \u2013 and died at 5 months, however, DNA was stored<\/p>\n\n\n\n
G3 \u2013 Present pregnancy<\/p>\n\n\n\n
Was referred at 8 weeks for genetic evaluation<\/p>\n\n\n\n
Genetic counseling was done<\/p>\n\n\n\n
Clinical exome sequencing was done on the stored DNA of the previous baby \u2013 which showed a homozygous mutation<\/p>\n\n\n\n<\/figure>\n\n\n\n
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Counseled regarding the recurrence risk<\/li>\n<\/ul>\n\n\n\n
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Trio Sanger sequencing was performed for the fetus and parents<\/li>\n<\/ul>\n\n\n\n
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At 13 weeks \u2013 CVS was performed, placental tissue was sent for Sanger sequencing along with maternal blood for Maternal Cell Contamination<\/li>\n<\/ul>\n\n\n\n
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A parental blood sample was sent to confirm the parental carrier status<\/li>\n<\/ul>\n\n\n\n
Take home messages<\/h2>\n\n\n\n
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DNA storage is a simple and inexpensive test that can be done in children affected with genetic syndrome\/ when structural abnormalities are noted on antenatal scan<\/li>\n<\/ul>\n\n\n\n
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DNA storage helps in genetic evaluation and helps us offer prenatal diagnosis in subsequent pregnancies in case a mutation is established<\/li>\n<\/ul>\n\n\n\n
Dr Rashmi Aravind Patel MD Radiodiagnosis Fellowship in Fetal Medicine (BFMC) Consultant at Bellary Fetal Medicine Centre What is DNA storage? DNA extraction is the process of isolating DNA from the cells of an organism isolated from a sample, typically a biological sample such as blood, saliva, or tissue (placental\/ fetal) It involves breaking open the …<\/p>\n
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