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Tytuł pozycji:

Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.

Tytuł:
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.
Autorzy:
Tolusso LK; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. .; Cincinnati Children's Fetal Care Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. .
Hazelton P; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Cincinnati Children's Fetal Care Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Wong B; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Cincinnati Children's Fetal Care Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Swarr DT; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Division of Neonatology and Pulmonary Biology, Perinatal Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Źródło:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 May; Vol. 23 (5), pp. 909-917. Date of Electronic Publication: 2021 Jan 13.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
Język:
English
Imprint Name(s):
Publication: 2022- : [New York] : Elsevier
Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998-
MeSH Terms:
Exome*/genetics
Prenatal Diagnosis*
Female ; Fetus ; Humans ; Infant, Newborn ; Pregnancy ; Retrospective Studies ; Exome Sequencing
References:
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Grant Information:
K08 HL130666 United States HL NHLBI NIH HHS; L40 GM102895 United States GM NIGMS NIH HHS; L40 HL134593 United States HL NHLBI NIH HHS; R01 HL156860 United States HL NHLBI NIH HHS
Entry Date(s):
Date Created: 20210114 Date Completed: 20210603 Latest Revision: 20221207
Update Code:
20240105
PubMed Central ID:
PMC7804210
DOI:
10.1038/s41436-020-01067-9
PMID:
33442022
Czasopismo naukowe
Purpose: Previous studies have reported that prenatal exome sequencing (pES) can detect monogenic diseases in fetuses with congenital anomalies with diagnostic yields ranging from 6% to 81%, but there are few reports of its clinical utility.
Methods: We conducted a retrospective chart review of patients who had pES to determine whether results led to clinical management changes.
Results: Of 20 patients, 8 (40%) received a definitive diagnosis. Seven patients (35%) had medical management changes based on the pES results, including alterations to their delivery plan and neonatal management (such as use of targeted medications, subspecialty referrals, additional imaging and/or procedures). All patients who received a definitive diagnosis and one who received a likely pathogenic variant (n = 9; 45%) received specific counseling about recurrence risk and the medical/developmental prognosis for the baby. In five (25%) cases, the result facilitated a diagnosis in parents and/or siblings.
Conclusion: pES results can have significant impacts on clinical management, some of which would not be possible if testing is deferred until after birth. To maximize the clinical utility, pES should be prioritized in cases where multiple care options are available and the imaging findings alone are not sufficient to guide parental decision-making, or where postnatal testing will not be feasible.

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