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Titolo:
Sonographic screening for fetal aneuploidy - First trimester
Autore:
Souter, VL; Nyberg, DA;
Indirizzi:
Univ Washington, Med Ctr, Dept Med, Div Med Genet, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 Div Med Genet, Seattle, WA 98195 USA Univ Washington, Med Ctr, Dept Radiol, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 , Dept Radiol, Seattle, WA 98195 USA Univ Washington, Med Ctr, Dept Obstet & Gynecol, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 tet & Gynecol, Seattle, WA 98195 USA Seattle Med Ctr, Ctr Perinatal Studies, Seattle, WA USA Seattle Med Ctr Seattle WA USA r, Ctr Perinatal Studies, Seattle, WA USA
Titolo Testata:
JOURNAL OF ULTRASOUND IN MEDICINE
fascicolo: 7, volume: 20, anno: 2001,
pagine: 775 - 790
SICI:
0278-4297(200107)20:7<775:SSFFA->2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
INCREASED NUCHAL TRANSLUCENCY; FREE BETA-HCG; PLASMA-PROTEIN-A; HUMAN CHORIONIC-GONADOTROPIN; CHROMOSOMALLY NORMAL FETUSES; VENOSUS BLOOD-FLOW; EARLY PRENATAL-DIAGNOSIS; DIMERIC INHIBIN-A; DOWNS-SYNDROME; MATERNAL SERUM;
Keywords:
sonography; screening; aneuploidy; first trimester; Down syndrome; nuchal translucency;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
138
Recensione:
Indirizzi per estratti:
Indirizzo: Nyberg, DA 1229 Madison St,1150, Seattle, WA 98104 USA 1229 Madison St,1150 Seattle WA USA 98104 eattle, WA 98104 USA
Citazione:
V.L. Souter e D.A. Nyberg, "Sonographic screening for fetal aneuploidy - First trimester", J ULTR MED, 20(7), 2001, pp. 775-790

Abstract

Objectives. Screening for fetal aneuploidy is now possible during the first trimester using sonographic and biochemical markers. The aim of this review was to summarize the efficacy and use of nuchal translucency in screening for fetal aneuploidy, especially fetal Down syndrome, and other anomalies. Methods. We reviewed available literature regarding first-trimester screening. This includes more than 16 studies of nuchal translucency as a markerfor fetal aneuploidy published since 1995. Results. Although early studiesshowed wide variation in detection of fetal Down syndrome when using nuchal translucency, more recent studies showed sensitivities of approximately 70% to 80%, for a 5% false-positive rate. Increased nuchal translucency has also been found to be a marker for other aneuploidies, including trisomy 18, trisomy 13, and Burner syndrome. Maternal serum biochemical screening canbe used as a test for aneuploidy during the first trimester. The 2 maternal serum markers that appear to be most useful in the late first trimester ale the free p subunit of human chorionic gonadotropin and pregnancy-associated plasma protein A. Together with maternal age, these markers yield a detection rate for trisomy 21 of approximately 60%, for a 5% false-positive rate. Because sonographic and biochemical markers appear to be largely independent, their combined risk results in improved detection rates compared with either method alone. As a result, the combination of nuchal translucency,biochemical marker;, and maternal age has achieved a detection rate of approximately 85%, for a 5% false-positive level for detection of trisomy 21. A newly proposed "integrated" approach using a panel of first- and second-trimester markers suggests that further improvement in the screening performance is possible. A number of questions regarding first-trimester screeningremain. We address some of these questions: Is first-trimester screening more effective than second-trimester screening? How to account for intrauterine lethality? Is earlier diagnosis important, and will it be accepted by patients! Is first-trimester screening cost-effective! How should first-trimester screening be interpreted with second-trimester tests? Conclusions. Despite encouraging data and general enthusiasm for first-trimester screeningfor fetal Down syndrome and other aneuploidies, a number of questions remain about its implementation in the United States. Multicenter studies currently under way should help answer some of these questions.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 17:31:48