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Review
. 2014 Apr 8;3(2):388-415.
doi: 10.3390/jcm3020388.

Beyond Trisomy 21: Additional Chromosomal Anomalies Detected through Routine Aneuploidy Screening

Amy Metcalfe  1 , Catriona Hippman  2   3 , Melanie Pastuck  4 , Jo-Ann Johnson  5
Affiliations
Review

Beyond Trisomy 21: Additional Chromosomal Anomalies Detected through Routine Aneuploidy Screening

Amy Metcalfe et al. J Clin Med. .

Abstract

Prenatal screening is often misconstrued by patients as screening for trisomy 21 alone; however, other chromosomal anomalies are often detected. This study aimed to systematically review the literature and use diagnostic meta-analysis to derive pooled detection and false positive rates for aneuploidies other than trisomy 21 with different prenatal screening tests. Non-invasive prenatal testing had the highest detection (DR) and lowest false positive (FPR) rates for trisomy 13 (DR: 90.3%; FPR: 0.2%), trisomy 18 (DR: 98.1%; FPR: 0.2%), and 45,X (DR: 92.2%; FPR: 0.1%); however, most estimates came from high-risk samples. The first trimester combined test also had high DRs for all conditions studied (trisomy 13 DR: 83.1%; FPR: 4.4%; trisomy 18 DR: 91.9%; FPR: 3.5%; 45,X DR: 70.1%; FPR: 5.4%; triploidy DR: 100%; FPR: 6.3%). Second trimester triple screening had the lowest DRs and highest FPRs for all conditions (trisomy 13 DR: 43.9%; FPR: 8.1%; trisomy 18 DR: 70.5%; FPR: 3.3%; 45,X DR: 77.2%; FPR: 9.3%). Prenatal screening tests differ in their ability to accurately detect chromosomal anomalies. Patients should be counseled about the ability of prenatal screening to detect anomalies other than trisomy 21 prior to undergoing screening.

Keywords: aneuploidy; maternal serum; non-invasive testing; prenatal; sensitivity; specificity; ultrasound.

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Figures

Figure 1
Figure 1
Flow diagram of study selection.
Appendix Figure B1
Appendix Figure B1
Summary Receiver Operator Characteristic (SROC) Curves for the detection of trisomy 13 using (A) first trimester combined test; (B) second trimester triple screen; and (C) non-invasive prenatal testing.
Appendix Figure B2
Appendix Figure B2
Summary Receiver Operator Characteristic (SROC) Curves for the detection of trisomy 18 using (A) first trimester combined test; (B) second trimester triple screen; and (C) non-invasive prenatal testing.
Appendix Figure B3
Appendix Figure B3
Summary Receiver Operator Characteristic (SROC) Curves for the detection of 45,X using (A) first trimester combined test; (B) second trimester triple screen; and (C) non-invasive prenatal testing.
Appendix Figure B4
Appendix Figure B4
Summary Receiver Operator Characteristic (SROC) Curves for the detection of triploidy using the first trimester combined test.
See this image and copyright information in PMC

References

    1. Chitayat D., Langlois S., Wilson R.D. Prenatal screening for fetal aneuploidy in singleton pregnancies. J. Obstet. Gynaecol. Can. 2011;33:736–750. - PubMed
    1. ACOG Committee on Practice Bulletins ACOG practice bulletin no. 77: Screening for fetal chromosomal abnormalities. Obstet. Gynecol. 2007;109:217–227. doi: 10.1097/00006250-200701000-00054. - DOI - PubMed
    1. Vassy C. From a genetic innovation to mass health programmes: The diffusion of Down’s syndrome prenatal screening and diagnostic techniques in France. Soc. Sci. Med. 2006;63:2041–2051. doi: 10.1016/j.socscimed.2006.04.032. - DOI - PubMed
    1. Patterson D., Costa A.C. Down syndrome and genetics—A case of linked histories. Nat. Rev. Genet. 2005;6:137–147. doi: 10.1038/nrg1525. - DOI - PubMed
    1. Chitty L.S., Hill M., White H., Wright D., Morris S. Noninvasive prenatal testing for aneuploidy-ready for prime time? Am. J. Obstet. Gynecol. 2012;206:269–275. doi: 10.1016/j.ajog.2012.02.021. - DOI - PubMed

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