Prospective first-trimester screening for trisomy 21 in 30,564 pregnancies

Chan

Ultrasound in Obstet & Gyne

et al. 2006

“…The results are comparable to reported figures from the Caucasian population, with sensitivities of 84% in Germany 8 , 85% in the USA 1 , 90% in Australia 9 and 93% in the UK 10 .…”

Section: Discussionsupporting

confidence: 81%

First‐trimester combined screening for trisomy 21 in a predominantly Chinese population

Chan

Ultrasound in Obstet & Gyne

et al. 2006

Ultrasound in Obstet & Gyne

“…The data for this study were derived from prospective assessment of risk for trisomy 21 by a combination of maternal age, fetal NT thickness, and maternal serum PAPP-A and free β-hCG at 11 + 0 to 13 + 6 weeks of gestation 3 . Two groups of UK hospitals were included.…”

Section: Methodsmentioning

confidence: 99%

First‐trimester screening for trisomy 21 by free beta‐human chorionic gonadotropin and pregnancy‐associated plasma protein‐A: impact of maternal and pregnancy characteristics

Kagan

Wright

Spencer

et al. 2008

268

232

“…There is much evidence that NT measurement alone or as part of the combined test is an excellent screening test for fetal aneuploidies Avgidou et al, 2005;Malone et al, 2005b). The measurement should be made between 11 and 14 weeks, with best performance obtained at 11-12 weeks (Malone et al, 2005b;Wright et al, 2008) when the measurement is performed by qualified ultrasonographers undergoing regular quality assessment (Evans et al, 2007;D'Alton et al, 2009).…”

Section: The Test: Nt Measurementmentioning

confidence: 99%

Increased nuchal translucency in euploid fetuses—what should we be telling the parents?

et al. 2010

Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structural defects and genetic syndromes. The risk of adverse outcome is proportional to the degree of NT enlargement. Although the majority of structural anomalies are amenable to ultrasound detection, unspecified genetic syndromes involving developmental delay may only emerge after birth. Concern over these prenatally undetectable conditions is a heavy burden for parents. However, following detection of enlarged NT the majority of babies with normal detailed ultrasound examination and echocardiography will have an uneventful outcome with no increased risk for developmental delay when compared to the general population. Counseling should emphasize this to help parents restore hope in normal pregnancy outcome and infant development. Copyright © 2010 John Wiley & Sons, Ltd.