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Review
. 2018 Jan;38(1):26-32.
doi: 10.1002/pd.5038. Epub 2017 Apr 17.

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations

Ahmad N Abou Tayoun  1 , Nancy B Spinner  1 , Heidi L Rehm  2   3   4 , Robert C Green  4   5 , Diana W Bianchi  6   7
Affiliations
Review

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations

Ahmad N Abou Tayoun et al. Prenat Diagn. 2018 Jan.

Abstract

Clinical diagnostic laboratories are producing next-generation sequencing-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in specialized centers, but it has not yet become routine practice. The technical, interpretation, and ethical challenges are greatest in the area of prenatal medicine because the fetus has a limited health history, and the physical examination is only indirectly available via prenatal sonography. Here, we provide an overview of these challenges and highlight the clinical utility, reporting, and counseling issues associated with prenatal DNA sequencing. Future considerations are also discussed. © 2017 John Wiley & Sons, Ltd.

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Conflict of interest statement

Conflicts of interest: A.N.A., N.B.S., H.L.R., and D.W.B. have no conflicts of interest. R.C.G. receives financial compensation for speaking or advisory services to AIA, Helix, Illumina, Invitae, and Prudential.

Figures

Figure 1
Figure 1
Technical, interpretation, and clinical considerations associated with prenatal sequencing. See text for detailed explanation. CVS, chorionic villus sampling; AF, amniotic fluid; POC, products of conception; MCC, maternal cell contamination; CPM, confined placental mosaicism; SNVs, single nucleotide variants; indels, small insertions and/or deletions.
Figure 2
Figure 2
Prenatal whole genome sequencing and release of genomic results. A tiered reporting approach can be adopted whereby sequencing is performed prenatally followed by sequential prenatal, perinatal, and postnatal release of results based on indication and utility of genomic findings.
See this image and copyright information in PMC

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