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Table 1 The overall positive diagnostic and inconclusive rates in each analysis step

From: Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses

Analysis step

Diagnostic results

Inconclusive results

Step 1

(Genotype-driven)

187/1618 (11.6%)

55/1618 (3.4%)

Step 2

(Genotype-Phenotype correlation based on initial invasive indications)

28/1618 (1.7%)

68/1618 (4.2%)

19 due to genotype-phenotype correlations

9 due to family co-segregation

Step 3

(Reanalysis due to new phenotypes or physician’s requests)

14/1618 (0.9%)

8/1618 (0.5%)

1 due to new phenotypes upgrading from VUS to LP

7 due to new phenotypes reclassified from IFs to positive diagnoses

3 due to new disease genes identified

2 with intragenic copy number variants

1 with focused Sanger analysis for a disease gene possessing pseudogene sequence

Total

229/1618 (14.2%)

131/1618 (8.1%)