Citation
Quinlan-Jones, Elizabeth, et al. "Molecular Autopsy By Trio Exome Sequencing (ES) and Postmortem Examination in Fetuses and Neonates With Prenatally Identified Structural Anomalies." Genetics in Medicine : Official Journal of the American College of Medical Genetics, vol. 21, no. 5, 2019, pp. 1065-1073.
Quinlan-Jones E, Lord J, Williams D, et al. Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies. Genet Med. 2019;21(5):1065-1073.
Quinlan-Jones, E., Lord, J., Williams, D., Hamilton, S., Marton, T., Eberhardt, R. Y., Rinck, G., Prigmore, E., Keelagher, R., McMullan, D. J., Maher, E. R., Hurles, M. E., & Kilby, M. D. (2019). Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 21(5), 1065-1073. https://doi.org/10.1038/s41436-018-0298-8
Quinlan-Jones E, et al. Molecular Autopsy By Trio Exome Sequencing (ES) and Postmortem Examination in Fetuses and Neonates With Prenatally Identified Structural Anomalies. Genet Med. 2019;21(5):1065-1073. PubMed PMID: 30293990.
TY - JOUR
T1 - Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
AU - Quinlan-Jones,Elizabeth,
AU - Lord,Jenny,
AU - Williams,Denise,
AU - Hamilton,Sue,
AU - Marton,Tamas,
AU - Eberhardt,Ruth Y,
AU - Rinck,Gabriele,
AU - Prigmore,Elena,
AU - Keelagher,Rebecca,
AU - McMullan,Dominic J,
AU - Maher,Eamonn R,
AU - Hurles,Matthew E,
AU - Kilby,Mark D,
Y1 - 2018/10/08/
PY - 2018/04/10/received
PY - 2018/08/29/accepted
PY - 2018/10/9/pubmed
PY - 2020/2/14/medline
PY - 2018/10/9/entrez
KW - autopsy
KW - exome sequencing
KW - fetuses
KW - genetic diagnosis
KW - neonates
SP - 1065
EP - 1073
JF - Genetics in medicine : official journal of the American College of Medical Genetics
JO - Genet Med
VL - 21
IS - 5
N2 - PURPOSE: To determine the diagnostic yield of combined exome sequencing (ES) and autopsy in fetuses/neonates with prenatally identified structural anomalies resulting in termination of pregnancy, intrauterine, neonatal, or early infant death. METHODS: ES was undertaken in 27 proband/parent trios following full autopsy. Candidate pathogenic variants were classified by a multidisciplinary clinical review panel using American College of Medical Genetics and Genomics (ACMG) guidelines. RESULTS: A genetic diagnosis was established in ten cases (37%). Pathogenic/likely pathogenic variants were identified in nine different genes including four de novo autosomal dominant, three homozygous autosomal recessive, two compound heterozygous autosomal recessive, and one X-linked. KMT2D variants (associated with Kabuki syndrome postnatally) occurred in two cases. Pathogenic variants were identified in 5/13 (38%) cases with multisystem anomalies, in 2/4 (50%) cases with fetal akinesia deformation sequence, and in 1/4 (25%) cases each with cardiac and brain anomalies and hydrops fetalis. No pathogenic variants were detected in fetuses with genitourinary (1), skeletal (1), or abdominal (1) abnormalities. CONCLUSION: This cohort demonstrates the clinical utility of molecular autopsy with ES to identify an underlying genetic cause in structurally abnormal fetuses/neonates. These molecular findings provided parents with an explanation of the developmental abnormality, delineated the recurrence risks, and assisted the management of subsequent pregnancies.
SN - 1530-0366
UR - https://www.unboundmedicine.com/medline/citation/30293990/Molecular_autopsy_by_trio_exome_sequencing__ES__and_postmortem_examination_in_fetuses_and_neonates_with_prenatally_identified_structural_anomalies_
L2 - https://linkinghub.elsevier.com/retrieve/pii/S1098-3600(21)01474-X
DB - PRIME
DP - Unbound Medicine
ER -