Journal Article

Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors

Ormond, Kelly E., Flodman, Pamela, Facio, Flavia, Devers, Patricia L., Brasington, Campbell K., Cronister, Amy

2013

Overview

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.

• Publisher: Springer US,Blackwell Publishing Ltd
• Subject: Aneuploidy screening / Antenatal / Biomedical and Life Sciences / Biomedicine / Cellfree fetal DNA (cffDNA) / Chromosome abnormalities / Chromosomes / Clinical medicine / Clinical Psychology / Counselors / Deoxyribonucleic acid / Diagnostic testing / Diagnostic tests / DNA / Down syndrome / Ethics / Female / Genetic counseling / Genetic Counseling - manpower / Genetic counselling / Genetic disorders / Genetic screening / Genetic testing / Gynecology / Human Genetics / Humans / Informed consent / Medical diagnosis / Medical screening / Monosomy X / Mothers / Non-invasive / Noninvasive prenatal diagnosis / Patients / Position Statement / Pregnancy / Prenatal care / Prenatal development / Prenatal diagnosis / Prenatal Diagnosis - methods / Prenatal testing / Professional Development Paper / Public Health / Screening / Societies, Medical - organization & administration / The National Society of Genetic Counselors / Trisomy 13 / Trisomy 18 / Trisomy 21