2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Clinically Significant Parental Diagnosis as an incidental Finding from Prenatal Genetic Testing

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This research poster presentation focuses on the implications of incidental parental genetic findings during prenatal genetic testing. It highlights the importance of reporting and managing these findings in individuals and couples undergoing prenatal genetic testing.<br /><br />The study conducted a retrospective review of prenatal genetic consultations from 2008 to 2020 at a single institution with multiple affiliate sites. The consultations included incidental clinically significant genetic diagnoses of either the mother or father during or after the pregnancy. Known genetic diagnoses were excluded from the study.<br /><br />The types of genetic testing performed included chromosomal microarray, carrier screening, trio exome, gene panel, non-invasive prenatal testing (NIPT), and single-gene testing. The indications for genetic testing included abnormal ultrasound findings, carrier screening, intrauterine fetal demise, previous child with a medical condition, and advanced maternal age.<br /><br />The study provided examples of incidental parental diagnoses discovered through prenatal testing. These included a 1.692 Mb duplication on chromosome 17q12 in a case of duodenal atresia, Fragile X premutation carrier status in a consanguineous couple, and pathogenic variants in the ALPL gene associated with hypophosphatasia and skeletal dysplasia.<br /><br />The findings of this study emphasize the importance of considering incidental parental genetic findings during prenatal genetic testing. These findings have implications not only for reproductive decision-making but also for parental health guidance and management.<br /><br />In conclusion, prenatal genetic testing can lead to the identification of clinically significant incidental parental genetic diagnoses. It is crucial to develop guidelines for reporting and managing these findings to ensure appropriate care for individuals and couples undergoing prenatal genetic testing.

Asset Subtitle

Presenting Author - Dan R. Brooks, MD; Co-Author - Roni Zemet Lazar, MD; Co-Author - Sandra Darilek, MS; Co-Author - Grant Bonesteele, MS; Co-Author - Veena Mathur, MS; Co-Author - Ignatia Van Den Veyver; Co-Author - April D. Adams, MD, MS, FACMG, FACOG;

Meta Tag

Prenatal Diagnosis

Co-Author Roni Zemet Lazar, MD

Co-Author Sandra Darilek, MS

Co-Author Grant Bonesteele, MS

Co-Author Veena Mathur, MS

Co-Author Ignatia Van Den Veyver

Co-Author April D. Adams, MD, MS, FACMG, FACOG

Presenting Author Dan R. Brooks, MD

Keywords

incidental parental genetic findings

prenatal genetic testing

reporting

managing

retrospective review

clinically significant genetic diagnoses

chromosomal microarray

carrier screening

trio exome

gene panel