Prenatal Diagnosis Through Next Generation Sequencing (NGS)

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Prenatal Diagnosis Through Next Generation Sequencing (NGS)

Book. 2016 02

Authors: Swedish Council on Health Technology Assessment

ConclusionsNGS for targeted analysis: There is insufficient scientific data to assess the reliability of non-invasive prenatal testing (NIPT) using NGS analysis for detecting trisomies other than trisomy 13, 18 or 21, or sex chromosome aneuploidies. Conducted studies includes few events, and the sensitivity of the method varies significantly between studies in the case of monosomy X. Because of heterogeneity in the studies, it is not possible to combine the results. However, the identified studies show that false positives occur to a greater extent than false negatives. There is insufficient scientific data to assess the reliability of NIPT using NGS for detecting microdeletions or microduplications associated to known syndromes. Analysis of the entire genetic makeup of the fetus can be included in some analysis pack­ages, even if the primary issue relates to a specific abnormality. This could potentially become an ethical problem if the woman and her partner are not given the opportunity to decide whether they want these analyses. NGS for whole genome sequencing: There is insufficient evidence to draw any conclusions on the reliability of whole genome sequencing using NGS on whether additional genetic changes affecting anatomy, function or development can be detected with the method. NGS enables detailed analysis of the entire genetic makeup of a fetus based on a blood sample from the pregnant woman. Since the method can provide information down to the smallest genetic detail, it has the potential to provide more detailed information than is necessary. While NGS could ultimately lead to early detection and treatment of some conditions, it also involves such extensive mapping of all of the fetus’ genes that difficulties to interpret the information will occur. This raises questions regarding which genetic changes should be identified and how the results should be reported. There are also important issues related to how the genetic information should be handled within the healthcare sector and by commercial organisations. There is a need for a thorough ethical analysis regarding the management and possible regulation of how the information generated by NGS should be used.

PMID: 28876745

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