Navigating the Challenges of Exome Sequencing in Structurally Normal Fetuses

[1] Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing [J]. PRENATAL DIAGNOSIS, 2020, 40 (12) : 1508 - 1514

[2] Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort [J]. PRENATAL DIAGNOSIS, 2024, 44 (12) : 1423 - 1434

[3] The Challenges of Performing Exome Sequencing in Structurally Normal Fetuses [J]. PRENATAL DIAGNOSIS, 2024,

[4] Lessons learnt from prenatal exome sequencing [J]. PRENATAL DIAGNOSIS, 2022, 42 (07) : 831 - 844

[5] Facilitating variant curation sharing for fetal precision genomics: A new venture for prenatal diagnosis [J]. PRENATAL DIAGNOSIS, 2022, 42 (12) : 1479 - 1480

[6] Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2022, 190 (02) : 231 - 242

[7] Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities [J]. PRENATAL DIAGNOSIS, 2015, 35 (10) : 1010 - 1017

[8] Durkie M., ACGS Best practice Guidelines for Variant Classification in Rare Disease 2024

[9] Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit [J]. PRENATAL DIAGNOSIS, 2024,

[10] Improving prenatal diagnosis through standards and aggregation [J]. PRENATAL DIAGNOSIS, 2024, 44 (04) : 454 - 464

[1] Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing [J]. PRENATAL DIAGNOSIS, 2020, 40 (12) : 1508 - 1514

[2] Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort [J]. PRENATAL DIAGNOSIS, 2024, 44 (12) : 1423 - 1434

[3] The Challenges of Performing Exome Sequencing in Structurally Normal Fetuses [J]. PRENATAL DIAGNOSIS, 2024,

[4] Lessons learnt from prenatal exome sequencing [J]. PRENATAL DIAGNOSIS, 2022, 42 (07) : 831 - 844

[5] Facilitating variant curation sharing for fetal precision genomics: A new venture for prenatal diagnosis [J]. PRENATAL DIAGNOSIS, 2022, 42 (12) : 1479 - 1480

[6] Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2022, 190 (02) : 231 - 242

[7] Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities [J]. PRENATAL DIAGNOSIS, 2015, 35 (10) : 1010 - 1017

[8] Durkie M., ACGS Best practice Guidelines for Variant Classification in Rare Disease 2024

[9] Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit [J]. PRENATAL DIAGNOSIS, 2024,

[10] Improving prenatal diagnosis through standards and aggregation [J]. PRENATAL DIAGNOSIS, 2024, 44 (04) : 454 - 464