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Symantec 250-406 : Administration of Clearwell eDiscovery Platform 7.x Exam

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Test Number : 250-406
Test Name : Administration of Clearwell eDiscovery Platform 7.x
Vendor Name : Symantec
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Symantec eDiscovery Free PDF

Exome Sequencing for Prenatal diagnosis in Nonimmune Hydrops Fetalis | 250-406 actual questions and test Braindumps

heritage

The reason behind most fetal anomalies isn't decided prenatally. Exome sequencing has changed genetic diagnosis after birth, but its usefulness for prenatal diagnosis remains rising. Nonimmune hydrops fetalis (NIHF), a fetal abnormality that is frequently lethal, has a lot of genetic factors; the extent to which exome sequencing can aid in its prognosis is unclear.

methods

We evaluated a series of 127 consecutive unexplained circumstances of NIHF that were described via the presence of fetal ascites, pleural or pericardial effusions, dermis edema, cystic hygroma, elevated nuchal translucency, or a combination of these conditions. The fundamental effect changed into the diagnostic yield of exome sequencing for detecting genetic editions that were labeled as both pathogenic or likely pathogenic in accordance with the criteria of the American college of clinical Genetics and Genomics. Secondary outcomes were the percentage of cases linked to selected genetic disorders and the share of variations that had been inherited.

outcomes

In 37 of the 127 circumstances (29%), they identified diagnostic genetic versions, including these for disorders affecting the RAS–MAPK cellphone-signaling pathway (referred to as RASopathies) (30% of the genetic diagnoses); inborn mistakes of metabolism and musculoskeletal issues (eleven% each); lymphatic, neurodevelopmental, cardiovascular, and hematologic problems (eight% each and every); and others. Prognoses ranged from a relatively gentle effect to demise during the perinatal length. standard, 68% of the cases (25 of 37) with diagnostic variants had been autosomal dominant (of which 12% were inherited and 88% had been de novo), 27% (10 of 37) were autosomal recessive (of which ninety five% had been inherited and 5% had been de novo), 1 became inherited X-linked recessive, and 1 was of unclear inheritance. They recognized potentially diagnostic editions in an further 12 cases.

Conclusions

in this enormous case series of 127 fetuses with unexplained NIHF, they identified a diagnostic genetic variant in approximately one third of the circumstances. (Funded with the aid of the united states middle for Maternal–Fetal Precision medicine and others; ClinicalTrials.gov quantity, NCT03412760.)


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