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Where have all the trisomies gone?
Am J Obstet Gynecol 2016; 215(5):583-587.e1AJ

Abstract

Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype). With the anticipation of lower costs in the future, cfDNA might be an alternative to sequential screening in the general population. Sequential and cfDNA tests are both noninvasive, and both identify common aneuploidies. Screening via cfDNA detects more common chromosome abnormalities (eg, trisomy 21, sex trisomies). Sequential screening can identify other aneuploidies (eg, triploidy), as well as chromosome abnormalities associated with fetal structural abnormalities. When the advantages and disadvantages of routine sequential screening with routine cfDNA screening are compared, one important measure is the proportion and severity of chromosome abnormalities identified. When reporting these detection rates, authors need to carefully consider the impact of multiple well-described biases. For women to make informed choices in situations of this type, determining reliable comparative performance estimates is crucial.

Authors+Show Affiliations

Department of Pathology and Laboratory Medicine, Women & Infants Hospital, Providence, RI.Department of Pathology and Laboratory Medicine, Women & Infants Hospital, Providence, RI.Department of Pathology and Laboratory Medicine, Women & Infants Hospital, Providence, RI.

Pub Type(s)

Editorial

Language

eng

PubMed ID

27793310

Citation

Palomaki, Glenn E., et al. "Where Have All the Trisomies Gone?" American Journal of Obstetrics and Gynecology, vol. 215, no. 5, 2016, pp. 583-587.e1.
Palomaki GE, Lambert-Messerlian GM, Haddow JE. Where have all the trisomies gone? Am J Obstet Gynecol. 2016;215(5):583-587.e1.
Palomaki, G. E., Lambert-Messerlian, G. M., & Haddow, J. E. (2016). Where have all the trisomies gone? American Journal of Obstetrics and Gynecology, 215(5), pp. 583-587.e1. doi:10.1016/j.ajog.2016.06.046.
Palomaki GE, Lambert-Messerlian GM, Haddow JE. Where Have All the Trisomies Gone. Am J Obstet Gynecol. 2016;215(5):583-587.e1. PubMed PMID: 27793310.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Where have all the trisomies gone? AU - Palomaki,Glenn E, AU - Lambert-Messerlian,Geralyn M, AU - Haddow,James E, PY - 2016/02/03/received PY - 2016/03/15/revised PY - 2016/06/23/accepted PY - 2016/10/30/pubmed PY - 2017/6/1/medline PY - 2016/10/30/entrez KW - Down syndrome KW - biases KW - cell-free DNA KW - detection rate KW - patient preference KW - sequential screening KW - sex chromosome trisomies SP - 583 EP - 587.e1 JF - American journal of obstetrics and gynecology JO - Am. J. Obstet. Gynecol. VL - 215 IS - 5 N2 - Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype). With the anticipation of lower costs in the future, cfDNA might be an alternative to sequential screening in the general population. Sequential and cfDNA tests are both noninvasive, and both identify common aneuploidies. Screening via cfDNA detects more common chromosome abnormalities (eg, trisomy 21, sex trisomies). Sequential screening can identify other aneuploidies (eg, triploidy), as well as chromosome abnormalities associated with fetal structural abnormalities. When the advantages and disadvantages of routine sequential screening with routine cfDNA screening are compared, one important measure is the proportion and severity of chromosome abnormalities identified. When reporting these detection rates, authors need to carefully consider the impact of multiple well-described biases. For women to make informed choices in situations of this type, determining reliable comparative performance estimates is crucial. SN - 1097-6868 UR - https://www.unboundmedicine.com/medline/citation/27793310/Where_have_all_the_trisomies_gone L2 - https://linkinghub.elsevier.com/retrieve/pii/S0002-9378(16)30391-X DB - PRIME DP - Unbound Medicine ER -