An Approach to Integrating Exome Sequencing for Fetal Structural Anomalies Into Clinical Practice
2020
We investigated the diagnostic and clinical performance of trio
exome sequencing (ES) in parent–fetus trios where the fetus had sonographic
abnormalities but normal karyotype, microarray and, in some cases, normal
gene-specific sequencing. ES was performed from DNA of 102 anomalous fetuses and from
peripheral blood from their parents. Parents provided consent for the return of
diagnostic results in the fetus, medically actionable findings in the parents,
and identification as carrier couple for significant autosomal recessive
conditions. In 21/102 (20.6%) fetuses, ES provided a positive-definitive or
positive-probable diagnosis. In 10/102 (9.8%), ES provided an
inconclusive-possible result. At least 2/102 (2.0%) had a repeat pregnancy
during the study period and used the information from the study for prenatal
diagnosis in the next pregnancy. Six of 204 (2.9%) parents received medically
actionable results that affected their own health and 3/102 (2.9%) of couples
received results that they were carriers for the same autosomal recessive
condition. ES has diagnostic utility in a select population of fetuses where a
genetic diagnosis was highly suspected. Challenges related to genetics literacy,
variant interpretation, and various types of diagnostic results affecting both
fetal and parental health must be addressed by highly tailored pre- and
post-test genetic counseling.
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