Fionnuala M Breathnach1, Fergal D Malone. 1. Department of Obstetrics and Gynaecology, Royal College of Surgeons in Ireland, Rotunda Hospital, Dublin, Ireland.
Abstract
PURPOSE OF REVIEW: This review serves to explore the recent literature regarding aneuploidy screening in both first and second trimesters. We aim to construct a comparative analysis of a range of proposed strategies for screening for trisomy 21. RECENT FINDINGS: First trimester combined screening (sonographic nuchal translucency combined with serum markers pregnancy-associated plasma protein A and the free beta subunit of human chorionic gonadotrophin) has superseded second trimester serum screening (alpha-fetoprotein, total human chorionic gonadotrophin, unconjugated estriol with or without inhibin-A) as a screening paradigm for the detection of trisomy 21. This move is attributed to the recognition of superior detection rates, lower false-positive rates and earlier results associated with the former strategy. Septated cystic hygroma has been recognized as a distinct entity which confers a high risk of aneuploidy and structural malformations. Further advances in screening performance are achievable by combining the results of first and second-trimester screens in a sequential manner, with much interest generated by programs that only include second-trimester testing contingent upon first-trimester results. SUMMARY: Screening strategies for aneuploidy continue to evolve, with the most recent evidence favouring a contingent sequential approach.
PURPOSE OF REVIEW: This review serves to explore the recent literature regarding aneuploidy screening in both first and second trimesters. We aim to construct a comparative analysis of a range of proposed strategies for screening for trisomy 21. RECENT FINDINGS: First trimester combined screening (sonographic nuchal translucency combined with serum markers pregnancy-associated plasma protein A and the free beta subunit of human chorionic gonadotrophin) has superseded second trimester serum screening (alpha-fetoprotein, total human chorionic gonadotrophin, unconjugated estriol with or without inhibin-A) as a screening paradigm for the detection of trisomy 21. This move is attributed to the recognition of superior detection rates, lower false-positive rates and earlier results associated with the former strategy. Septated cystic hygroma has been recognized as a distinct entity which confers a high risk of aneuploidy and structural malformations. Further advances in screening performance are achievable by combining the results of first and second-trimester screens in a sequential manner, with much interest generated by programs that only include second-trimester testing contingent upon first-trimester results. SUMMARY: Screening strategies for aneuploidy continue to evolve, with the most recent evidence favouring a contingent sequential approach.
Authors: Niranjan Nagarajan; Denis Bertrand; Axel M Hillmer; Zhi Jiang Zang; Fei Yao; Pierre-Étienne Jacques; Audrey S M Teo; Ioana Cutcutache; Zhenshui Zhang; Wah Heng Lee; Yee Yen Sia; Song Gao; Pramila N Ariyaratne; Andrea Ho; Xing Yi Woo; Lavanya Veeravali; Choon Kiat Ong; Niantao Deng; Kartiki V Desai; Chiea Chuen Khor; Martin L Hibberd; Atif Shahab; Jaideepraj Rao; Mengchu Wu; Ming Teh; Feng Zhu; Sze Yung Chin; Brendan Pang; Jimmy B Y So; Guillaume Bourque; Richie Soong; Wing-Kin Sung; Bin Tean Teh; Steven Rozen; Xiaoan Ruan; Khay Guan Yeoh; Patrick B O Tan; Yijun Ruan Journal: Genome Biol Date: 2012-12-13 Impact factor: 13.583