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From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.
Genet Med. 2019 10; 21(10):2303-2310.GM

Abstract

PURPOSE

Exome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recent studies show that it may have a considerable diagnostic yield in fetuses with structural anomalies on ultrasound. We report on the clinical impact of the implementation of prenatal ES (pES) for ongoing pregnancies in routine care.

METHODS

We retrospectively analyzed the impact of pES on pregnancy outcome and pre- or perinatal management in the first 22 patients counseled for pES because of one or more structural anomalies on fetal ultrasound.

RESULTS

In two cases, a diagnosis was made by chromosomal microarray analysis after ES counseling. The remaining 20 cases were divided in three groups: (1) pES to aid parental decision making (n = 12), (2) pES in the context of late pregnancy termination requests (n = 5), and (3) pES to guide pre- or perinatal management (n = 3). pES had a clinical impact in 75% (9/12), 40% (2/5), and 100% (3/3) respectively, showing an overall clinical impact of pES of 70% (14/20).

CONCLUSION

We show that clinical implementation of pES is feasible and affects parental decision making or pre- and perinatal management supporting further implementation of ES in the prenatal setting.

Authors+Show Affiliations

Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.Department of Obstetrics and Fetal Medicine, Leiden University Medical Centre, Leiden, the Netherlands.Department of Obstetrics and Fetal Medicine, Leiden University Medical Centre, Leiden, the Netherlands.Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands. santen@lumc.nl.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

30918357

Citation

de Koning, Maayke A., et al. "From Diagnostic Yield to Clinical Impact: a Pilot Study On the Implementation of Prenatal Exome Sequencing in Routine Care." Genetics in Medicine : Official Journal of the American College of Medical Genetics, vol. 21, no. 10, 2019, pp. 2303-2310.
de Koning MA, Haak MC, Adama van Scheltema PN, et al. From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care. Genet Med. 2019;21(10):2303-2310.
de Koning, M. A., Haak, M. C., Adama van Scheltema, P. N., Peeters-Scholte, C. M. P. C. D., Koopmann, T. T., Nibbeling, E. A. R., Aten, E., den Hollander, N. S., Ruivenkamp, C. A. L., Hoffer, M. J. V., & Santen, G. W. E. (2019). From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 21(10), 2303-2310. https://doi.org/10.1038/s41436-019-0499-9
de Koning MA, et al. From Diagnostic Yield to Clinical Impact: a Pilot Study On the Implementation of Prenatal Exome Sequencing in Routine Care. Genet Med. 2019;21(10):2303-2310. PubMed PMID: 30918357.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care. AU - de Koning,Maayke A, AU - Haak,Monique C, AU - Adama van Scheltema,Phebe N, AU - Peeters-Scholte,Cacha M P C D, AU - Koopmann,Tamara T, AU - Nibbeling,Esther A R, AU - Aten,Emmelien, AU - den Hollander,Nicolette S, AU - Ruivenkamp,Claudia A L, AU - Hoffer,Mariëtte J V, AU - Santen,Gijs W E, Y1 - 2019/03/28/ PY - 2018/12/14/received PY - 2019/03/14/accepted PY - 2019/3/29/pubmed PY - 2020/3/18/medline PY - 2019/3/29/entrez KW - clinical impact KW - exome sequencing KW - fetal anomalies KW - parental counseling KW - perinatal management SP - 2303 EP - 2310 JF - Genetics in medicine : official journal of the American College of Medical Genetics JO - Genet Med VL - 21 IS - 10 N2 - PURPOSE: Exome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recent studies show that it may have a considerable diagnostic yield in fetuses with structural anomalies on ultrasound. We report on the clinical impact of the implementation of prenatal ES (pES) for ongoing pregnancies in routine care. METHODS: We retrospectively analyzed the impact of pES on pregnancy outcome and pre- or perinatal management in the first 22 patients counseled for pES because of one or more structural anomalies on fetal ultrasound. RESULTS: In two cases, a diagnosis was made by chromosomal microarray analysis after ES counseling. The remaining 20 cases were divided in three groups: (1) pES to aid parental decision making (n = 12), (2) pES in the context of late pregnancy termination requests (n = 5), and (3) pES to guide pre- or perinatal management (n = 3). pES had a clinical impact in 75% (9/12), 40% (2/5), and 100% (3/3) respectively, showing an overall clinical impact of pES of 70% (14/20). CONCLUSION: We show that clinical implementation of pES is feasible and affects parental decision making or pre- and perinatal management supporting further implementation of ES in the prenatal setting. SN - 1530-0366 UR - https://www.unboundmedicine.com/medline/citation/30918357/From_diagnostic_yield_to_clinical_impact:_a_pilot_study_on_the_implementation_of_prenatal_exome_sequencing_in_routine_care_ L2 - https://doi.org/10.1038/s41436-019-0499-9 DB - PRIME DP - Unbound Medicine ER -