Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study

Fionnuala Mone; Hala Abu Subieh; Samantha Doyle; S. Hamilton; Dominic McMullan; Stephanie Allen; Tamás Marton; Denise Williams; Mark D. Kilby

doi:10.1002/uog.24842

December 23, 2021Ultrasound in Obstetrics and GynecologyOpen Access

Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study

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Key Points

To evaluate the clinical diagnostic yield of prenatal exome sequencing and assess how evolving fetal phenotypes affect genetic variant interpretation.
Cohort study analyzing preselected fetuses presenting with structural anomalies identified on prenatal ultrasound.
Applied the NHS England R21 prenatal exome sequencing pathway combined with continuous phenotypic tracking and postnatal variant reclassification.
Prenatal exome sequencing achieved a definitive genetic diagnosis in more than 50% of preselected fetuses with structural ultrasound anomalies.
Real-time monitoring of evolving fetal phenotypes and postnatal variant reclassification substantially enhanced the clinical utility of prenatal genomic testing.

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Implication

Cohort study reveals high diagnostic yield of prenatal exome sequencing in fetuses with structural anomalies, highlighting the value of updating phenotypes and variant classifications postnatally.

Abstract

Prenatal ES using the NHS England R21 pathway showed great promise when applied to this cohort, allowing a genetic diagnosis to be made in over half of preselected cases with a fetal structural anomaly on ultrasound. Monitoring and real-time updating of fetal phenotype and reclassification of variants based on postnatal findings is vital to increase the clinical impact that is already evident from this emerging genomic technology.

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Mone et al. (2021) studied this question.

synapsesocial.com/papers/69dab32337b5141e3ba3c1c5 https://doi.org/10.1002/uog.24842

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Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study

Key Points

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Implication

Abstract

Discussion

Cite This Study

Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study

Key Points

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Implication

Abstract

Discussion

Cite This Study

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