[HTML][HTML] Down syndrome: current status, challenges and future perspectives

M Kazemi, M Salehi, M Kheirollahi - International journal of …, 2016 - ncbi.nlm.nih.gov
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy
of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and …

Antenatal screening for Down's syndrome

NJ Wald, A Kennard, A Hackshaw… - Journal of Medical …, 1997 - journals.sagepub.com
Background In 1968 the first antenatal diagnosis of Down's syndrome was made and
screening on the basis of selecting women of advanced maternal age for amniocentesis was …

[HTML][HTML] A short history of sonography in obstetrics and gynaecology

S Campbell - Facts, views & vision in ObGyn, 2013 - ncbi.nlm.nih.gov
The history of sonography in Obstetrics and Gynaecology dates from the classic 1958
Lancet paper of Ian Donald and his team from Glasgow. Fifty years on it is impossible to …

Second-trimester ultrasound to detect fetuses with Down syndrome: a meta-analysis

R Smith-Bindman, W Hosmer, VA Feldstein, JJ Deeks… - Jama, 2001 - jamanetwork.com
ContextSecond-trimester prenatal ultrasound is widely used in an attempt to detect Down
syndrome in fetuses, but the accuracy of this method is unknown. ObjectiveTo determine the …

Sonographic identification of second-trimester fetuses with Down's syndrome

BR Benacerraf, R Gelman… - New England journal of …, 1987 - Mass Medical Soc
Fetuses with Down's syndrome are more likely than normal fetuses to have a thickened
nuchal skin fold and relatively short femurs on ultrasound examination in the second …

The genetic sonogram: a method of risk assessment for Down syndrome in the second trimester

B Bromley, E Lieberman, TD Shipp… - Journal of Ultrasound …, 2002 - Wiley Online Library
Objective. To determine the risk of Down syndrome in fetuses with sonographic markers
using the Bayes theorem and likelihood ratios. Methods. We prospectively evaluated the …

[图书][B] Ultrasound of congenital fetal anomalies: differential diagnosis and prognostic indicators

D Paladini, P Volpe - 2018 - taylorfrancis.com
The most frequently asked questions that confront the fetal medicine trainee/expert on a
daily basis are “Is the finding real or merely an artifact?” and “Is the diagnosis correct?” …

Sonographic scoring index for prenatal detection of chromosomal abnormalities

BR Benacerraf, D Neuberg, B Bromley… - Journal of ultrasound …, 1992 - Wiley Online Library
Current indications for cytogenetic evaluation leave the majority of Down syndrome fetuses
undetected. Using advanced maternal age and low maternal serum alpha‐fetoprotein (AFP) …

Second trimester ultrasound screening for chromosomal abnormalities

TD Shipp, BR Benacerraf - Prenatal Diagnosis: Published in …, 2002 - Wiley Online Library
The use of prenatal ultrasound has proven efficacious for the prenatal diagnosis of
chromosomal abnormalities. The first sonographic sign of Down syndrome, the thickened …

Identification of second-trimester fetuses with autosomal trisomy by use of a sonographic scoring index.

BR Benacerraf, A Nadel, B Bromley - Radiology, 1994 - pubs.rsna.org
PURPOSE: To evaluate the ability to identify fetuses with autosomal trisomy by use of
sonographic features in the form of a scoring system. MATERIALS AND METHODS: The …