Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors
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The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers’ efforts to establish a reliable method for non-invasive prenatal testing for fetal genetic conditions. Various methods, including, but not limited to, massively parallel sequencing (MPS) and selective analysis of cell-free fetal DNA in maternal plasma, have recently been developed as highly sensitive and specific noninvasive screening tools for common fetal chromosome aneuploidies. Incorporating these new noninvasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counseling plays an integral role. The National Society of Genetic Counselors (NSGC) currently supports Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis (NIPT/NIPD) as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities. NSGC urges that NIPT/NIPD only be offered in the context of informed consent, education, and counseling by a qualified provider, such as a certified genetic counselor. Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.
KeywordsNoninvasive prenatal diagnosis Aneuploidy screening Prenatal diagnosis Down syndrome Trisomy 13 Trisomy 18 Trisomy 21 Monosomy X Position Statement The National Society of Genetic Counselors Cellfree fetal DNA (cffDNA)
We thank the NSGC Membership for the valuable insight and feedback they provided in the revision of this position statement. We also thank Molly Giammarco for her assistance to the taskforce. Finally, we would like to express our gratitude to Susan Hahn for her guidance and input throughout the process of creating this position statement.
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