Soft tissue nuchal fold in the second-trimester fetus: standards for normal measurements compared with those in Down syndrome

BR Benacerraf, FD Frigoletto Jr - American journal of obstetrics and …, 1987 - Elsevier
There are several reports describing the sonographic sign of a thickened nuchal fold for the
prenatal sonographic detection of Down syndrome in the second trimester. We prospectively …

Skeletal abnormalities in fetuses with Down's syndrome: a radiographic post-mortem study

N Stempfle, Y Huten, C Fredouille, H Brisse… - Pediatric …, 1999 - Springer
Objective. To evaluate skeletal abnormalities on post-mortem radiographs of fetuses with
Down's syndrome. Materials and methods. Biometrical and morphological criteria, which are …

Utility of minor ultrasonographic markers in the prediction of abnormal fetal karyotype at a prenatal diagnostic center

BD Sohl, AL Scioscia, NE Budorick… - American journal of …, 1999 - Elsevier
Objective: This study was undertaken to assess the value of minor ultrasonographic markers
in predicting significant karyotypic abnormalities. Study Design: A total of 2743 fetuses (14 …

Identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing

J Wang, L Chen, C Zhou, L Wang, H Xie, Y Xiao… - Scientific reports, 2018 - nature.com
A prospective analysis investigating the associations between pathogenic copy number
variations (pCNVs) and ultrasound soft markers (USMs) in fetuses and evaluating the …

First trimester sonographic detection of chromosomal abnormalities in an unselected population

DL Economides, BJ Whitlow, R Kadir… - … Journal of Obstetrics …, 1998 - Wiley Online Library
Objective To investigate the role of first trimester sonography in detecting chromosomal
abnormalities in an unselected obstetric population. Methods 2281 women (mean maternal …

[HTML][HTML] Prenatal diagnosis of congenital anomalies

T Todros, E Capuzzo, P Gaglioti - Images in paediatric cardiology, 2001 - ncbi.nlm.nih.gov
Up till the early 1970s, prenatal diagnosis of congenital anomalies was primarily aimed at
detecting chromosomal abnormalities by amniocentesis. 1. Over the last two decades …

Women's knowledge of prenatal ultrasound and informed choice

RJ Kohut, D Dewey, EJ Love - Journal of Genetic Counseling, 2002 - Springer
This study evaluated women's understanding of prenatal ultrasound in terms of meeting the
requirements for informed choice. A cross-sectional survey was conducted to evaluate (1) …

The incorporation of maternal age into the sonographic scoring index for the detection at 14–20 weeks of fetuses with Down's syndrome

B Bromley, E Lieberman… - Ultrasound in Obstetrics …, 1997 - Wiley Online Library
Sonographic markers for Down's syndrome have been useful in the identification of affected
fetuses. In this study, we evaluated the accuracy of an expanded scoring index that included …

Sonographic markers of fetal aneuploidy—a review

S Cicero, C Sacchini, G Rembouskos, KH Nicolaides - Placenta, 2003 - Elsevier
The most effective sonographic marker of trisomy 21 and other chromosomal defects is
increased nuchal translucency (NT) thickness at 11–14 weeks. Extensive studies over the …

Noninvasive prenatal screening based on second-trimester ultrasonographic soft markers in low-risk pregnant women

Y Liu, X Jing, L Xing, S Liu, J Liu, J Cheng… - Frontiers in …, 2021 - frontiersin.org
Background: We aimed to assess the clinical application of noninvasive prenatal screening
(NIPS) based on second-trimester ultrasonographic soft markers (USMs) in low-risk …