Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome
Taiwanese Journal of Obstetrics and Gynecology, ISSN: 1028-4559, Vol: 61, Issue: 3, Page: 521-524
2022
- 2Citations
- 8Captures
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Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
Citation Benchmarking is provided by Scopus and SciVal and is different from the metrics context provided by PlumX Metrics.
Metrics Details
- Citations2
- Citation Indexes2
- Captures8
- Readers8
Case Description
To demonstrate the picture of a woman who had three times of pregnancies but fetuses were complicated with Fraser syndrome, a rare genetic disorder with multiple congenital anomalies. Here are three complicated pregnancies with predominant features of severe oligohydramnios and other variable intrafamilial presentations. We made a definite diagnosis, Fraser syndrome, with the assistance of whole exome sequencing (WES) via umbilical blood of the second and third fetus. The provision of a preimplantation diagnosis helped contribute a healthy newborn in this family. This paper provides insights into obscure antenatal presentations of Fraser syndrome with intrafamilial variance. Clinical uncertainty at the fetal stage suggests the role of WES to reach a final diagnosis, and a preimplantation diagnosis is applicable to avoid recurrence of genetic disorders in subsequent pregnancies.
Bibliographic Details
http://www.sciencedirect.com/science/article/pii/S1028455922000900; http://dx.doi.org/10.1016/j.tjog.2022.03.022; http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85128206787&origin=inward; http://www.ncbi.nlm.nih.gov/pubmed/35595450; https://linkinghub.elsevier.com/retrieve/pii/S1028455922000900; https://dx.doi.org/10.1016/j.tjog.2022.03.022
Elsevier BV
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