Prenatal screening for fetal aneuploidy in singleton pregnancies

D Chitayat, S Langlois, RD Wilson, F Audibert… - Journal of obstetrics and …, 2011 - Elsevier
Abstract Objective To develop a Canadian consensus document on maternal screening for
fetal aneuploidy (eg, Down syndrome and trisomy 18) in singleton pregnancies. Options …

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

GE Palomaki, C Deciu, EM Kloza… - Genetics in …, 2012 - nature.com
Purpose: To determine whether maternal plasma cell–free DNA sequencing can effectively
identify trisomy 18 and 13. Methods: Sixty-two pregnancies with trisomy 18 and 12 with …

Advances in prenatal screening for Down syndrome: I. General principles and second trimester testing

PA Benn - Clinica chimica acta, 2002 - Elsevier
Background: Down syndrome is one of the most important causes of mental retardation in
the population. In the absence of prenatal screening and diagnosis, prevalence at birth in …

Non‐invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing

D Liang, W Lv, H Wang, L Xu, J Liu, H Li… - Prenatal …, 2013 - Wiley Online Library
Objective To determine whether non‐invasive prenatal testing by maternal plasma DNA
sequencing can uncover all fetal chromosome aneuploidies in one simple sequencing …

Trisomy 18 and trisomy 13 syndromes

JC Carey - Cassidy and Allanson's management of genetic …, 2021 - Wiley Online Library
The trisomy 18 and trisomy 13 syndromes represent important and common conditions of
human aneusomy. Together, their combined prevalence in live born infants approaches …

Refinements in managing maternal weight adjustment for interpreting prenatal screening results

LM NEVEUX, GE PALOMAKI… - … in Affiliation With the …, 1996 - Wiley Online Library
This study examines the relationship between maternal weight and serum levels of alpha‐
fetoprotein, unconjugated oestriol, and human chorionic gonadotropin in a population of 47 …

Retired: prenatal screening for fetal aneuploidy

AM Summers, S Langlois, P Wyatt, RD Wilson… - Journal of obstetrics and …, 2007 - Elsevier
Abstract Objective: To develop a Canadian consensus document with recommendations on
maternal screening for fetal aneuploidy (eg, Down syndrome and trisomy 18) in pregnancy …

First-and second-trimester screening: detection of aneuploidies other than Down syndrome

FM Breathnach, FD Malone… - Obstetrics & …, 2007 - journals.lww.com
OBJECTIVE: To evaluate the performance of first-and second-trimester screening methods
for the detection of aneuploidies other than Down syndrome. METHODS: Patients with …

Maternal serum cell-free fetal DNA levels are increased in cases of trisomy 13 but not trisomy 18

T Wataganara, ES LeShane, A Farina, GM Messerlian… - Human genetics, 2003 - Springer
Cell-free fetal DNA in the maternal circulation is a potential noninvasive marker for fetal
aneuploidies. In previous studies with Y DNA as a fetal-specific marker, levels of circulating …

Detection rates for aneuploidy by first-trimester and sequential screening

RJ Baer, MC Flessel, LL Jelliffe-Pawlowski… - Obstetrics & …, 2015 - journals.lww.com
OBJECTIVE: To estimate detection rates for aneuploidy by first-trimester and sequential
screening. METHODS: The study included women with singleton pregnancies who …