Screening for aneuploidy in first and second trimesters: is there an optimal paradigm?

被引：11

作者：

Breathnach, Fionnuala M. ^{[1
]}

Malone, Fergal D. ^{[1
]}

机构：

[1] Rotunda Hosp, Royal Coll Surg Ireland, Dept Obstet & Gynaecol, Dublin 1, Ireland

来源：

CURRENT OPINION IN OBSTETRICS & GYNECOLOGY | 2007年 / 19卷 / 02期

基金：

美国国家卫生研究院;

关键词：

aneuploidy; nuchal translucency; screening; trisomy;

D O I：

10.1097/GCO.0b013e3280895e00

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

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serum markers pregnancy-associated plasma protein A and the free beta subunit of human chorionic gonadotrophin) has superseded second trimester serum screening (alpha-fetoprotein, total human chorionic gonadotrophin, unconjugated estriol with or without inhibin-A) as a screening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.

引用

页码：176 / 182

页数：7

共 58 条

[1] IDENTIFICATION OF 2ND-TRIMESTER FETUSES WITH AUTOSOMAL TRISOMY BY USE OF A SONOGRAPHIC SCORING INDEX [J].

BENACERRAF, BR ;

NADEL, A ;

BROMLEY, B .

RADIOLOGY, 1994, 193 (01) :135-140

[2] Iliac wing angle as a marker for trisomy 21 in the second trimester [J].

Bork, MD ;

Egan, JFX ;

Cusick, W ;

Borgida, AF ;

Campbell, WA ;

Rodis, JF .

OBSTETRICS AND GYNECOLOGY, 1997, 89 (05) :734-737

[3] Likelihood ratio for trisomy 21 in fetuses with absent nasal bone at the 11-14-week scan [J].

Cicero, S ;

Rembouskos, G ;

Vandecruys, H ;

Hogg, M ;

Nicolaides, KH .

ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2004, 23 (03) :218-223

[4] Integrated ultrasound and biochemical screening for trisomy 21 using fetal nuchal translucency, absent fetal nasal bone, free β-hCG and PAPP-A at 11 to 14 weeks [J].

Cicero, S ;

Bindra, R ;

Rembouskos, G ;

Spencer, K ;

Nicolaides, KH .

PRENATAL DIAGNOSIS, 2003, 23 (04) :306-310

[5] Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: an observational study [J].

Cicero, S ;

Curcio, P ;

Papageorghiou, A ;

Sonek, J ;

Nicolaides, K .

LANCET, 2001, 358 (9294) :1665-1667

[6] Down syndrome screening in the first and/or second trimester: Model predicted performance using meta-analysis parameters [J].

Cuckle, H ;

Benn, P ;

Wright, D .

SEMINARS IN PERINATOLOGY, 2005, 29 (04) :252-257

[7] Womens' preference in Down syndrome screening [J].

de Graaf, IM ;

Tijmstra, T ;

Bieker, OP ;

van Lith, JMM .

PRENATAL DIAGNOSIS, 2002, 22 (07) :624-629

[8] Subtle ultrasonographic anomalies: Do they improve the Down syndrome detection rate? [J].

Deren, O ;

Mahoney, MJ ;

Copel, JA ;

Bahado-Singh, RO .

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 1998, 178 (03) :441-445

[9] THE USE OF COLOR DOPPLER ULTRASOUND TO IDENTIFY FETUSES AT INCREASED RISK FOR TRISOMY-21 - AN ALTERNATIVE FOR HIGH-RISK PATIENTS WHO DECLINE GENETIC AMNIOCENTESIS [J].

DEVORE, GR ;

ALFI, O .

OBSTETRICS AND GYNECOLOGY, 1995, 85 (03) :378-386

[10] First-trimester maternal serum PAPP-A and free-beta subunit human chorionic gonadotropin concentrations and nuchal translucency are associated with obstetric complications: A population-based screening study (The FASTER Trial) [J].

Dugoff, L ;

Hobbins, JC ;

Malone, FD ;

Porter, TF ;

Luthy, D ;

Comstock, CH ;

Hankins, G ;

Berkowitz, RL ;

Merkatz, I ;

Craigo, SD ;

Timor-Tritsch, IE ;

Carr, SR ;

Wolfe, HM ;

Vidaver, J ;

D'Alton, ME .

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2004, 191 (04) :1446-1451

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