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J. Clin. Med. 2014, 3(2), 388-415; doi:10.3390/jcm3020388
Review

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

1,* , 2,3
,
4
 and
5
Received: 13 January 2014 / Revised: 6 February 2014 / Accepted: 18 February 2014 / Published: 8 April 2014
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 2)
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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; prenatal; maternal serum; ultrasound; non-invasive testing; sensitivity; specificity aneuploidy; prenatal; maternal serum; ultrasound; non-invasive testing; sensitivity; specificity
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Metcalfe, A.; Hippman, C.; Pastuck, M.; Johnson, J.-A. Beyond Trisomy 21: Additional Chromosomal Anomalies Detected through Routine Aneuploidy Screening. J. Clin. Med. 2014, 3, 388-415.

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