PPM - Prenatal Exome Sequencing after Abnormal Fetal Ultrasound-Checklist

Checklist

Pdf Summary

This checklist outlines the necessary steps involved in conducting prenatal exome sequencing after an abnormal fetal ultrasound. It emphasizes the importance of documenting the patient's medical and family history, reviewing the prenatal history and current pregnancy course, and reviewing the findings of the fetal ultrasound. It also highlights the need to discuss any previous genetic testing that has been done and consider the option of prenatal exome sequencing if a diagnosis has not been made. The ordering provider must be familiar with the test design, content, results, and limitations of the sequencing being ordered, and they must note all appropriate phenotypic data on the requisition. The patient should be counseled about the benefits of trio exome sequencing and receive pretest genetic counseling. The cost of the testing should be reviewed and informed consent obtained from all appropriate individuals. The potential impact of the turnaround time on pregnancy and neonatal management should be discussed, as well as the possibility of maternal cell contamination. The patient should be informed about the lab reporting guidelines and any concerns related to prenatal exome sequencing, including the potential for no genetic diagnosis, variants of uncertain significance, and incidental findings. The possibility of misattributed parentage or consanguinity should also be discussed. Post-test counseling should be provided regarding the results and limitations of the diagnosis, as well as potential future reanalysis. The potential implications of the exome results for at-risk family members should be discussed, and a follow-up consultation with neonatologists or clinical geneticists should be arranged if necessary.

Keywords

prenatal exome sequencing

abnormal fetal ultrasound

genetic testing

diagnosis

test limitations

pretest genetic counseling

informed consent

maternal cell contamination

incidental findings

follow-up consultation