PPM - Genetic Counseling for Prenatal Diagnostic Testing-Description and References

Description and References

Pdf Summary

This document outlines the significance of genetic counseling in prenatal diagnostic testing, emphasizing patient education and informed decision-making. Prenatal genetic counseling is commonly sought for various reasons including advanced parental age, abnormal fetal aneuploidy screening results, family history of inherited conditions, previously affected children with congenital anomalies, detection of fetal structural anomalies, or parental carrier status for genetic disorders such as balanced chromosomal rearrangements, autosomal recessive diseases (e.g., cystic fibrosis, sickle cell disease), triplet-repeat disorders, or maternal illnesses affecting pregnancy.<br /><br />Given the complexity and variety of available prenatal tests and procedures, genetic counseling educates patients on the indications, benefits, and risks of these diagnostic methods. It stresses that no single test can detect all genetic disorders, outcomes cannot always be definitively predicted, and some results may be ambiguous. The counseling process also highlights potential incidental findings like consanguinity or misattributed parentage, which may arise during testing.<br /><br />A structured counseling approach upholds patient autonomy, ensures safety, and manages procedural risks. After receiving counseling, patients can make informed choices about whether to proceed with testing. Respecting patient autonomy and delivering thorough education are central to effective prenatal genetic counseling.<br /><br />The document references key practice guidelines and literature from authoritative bodies like the American College of Obstetricians and Gynecologists and the Society of Maternal-Fetal Medicine, providing evidence-based information on advanced genetic diagnostic technologies such as chromosomal microarrays and next-generation sequencing, and practical guidance on selecting appropriate prenatal genetic tests.

Keywords

genetic counseling

prenatal diagnostic testing

patient education

informed decision-making

advanced parental age

fetal aneuploidy screening

genetic disorders

chromosomal microarrays

next-generation sequencing

patient autonomy