Ethical issues associated with prenatal screening using non‐invasive prenatal testing for sex chromosome aneuploidy

M Johnston, C Warton, MD Pertile… - Prenatal …, 2023 - Wiley Online Library
Prenatal screening for sex chromosome aneuploidies (SCAs) is increasingly available
through expanded non‐invasive prenatal testing (NIPT). NIPT for SCAs raises complex …

[HTML][HTML] Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature

KC Jeon, LS Chen, P Goodson - Genetics in Medicine, 2012 - Elsevier
We performed a systematic review of factors affecting parental decisions to continue or
terminate a pregnancy after prenatal diagnosis of a sex chromosome abnormality, as …

Androgen Receptor CAGn Repeat Length Influences Phenotype of 47,XXY (Klinefelter) Syndrome

AR Zinn, P Ramos, FF Elder, K Kowal… - The Journal of …, 2005 - academic.oup.com
Abstract Context: Klinefelter syndrome (KS; 47, XXY karyotype and variants) is characterized
by tall stature and testicular failure, with marked variation in severity of the phenotype …

Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy

BL Shaffer, AB Caughey… - … Diagnosis: Published in …, 2006 - Wiley Online Library
Objective To investigate the rate of pregnancy termination for various fetal aneuploidies, and
to evaluate predictors of this choice. Methods A retrospective cohort study identified all …

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

PA Boyd, M Loane, E Garne, B Khoshnood… - European Journal of …, 2011 - nature.com
This study aims to assess prevalence and pregnancy outcome for sex chromosome
trisomies (SCTs) diagnosed prenatally or in the first year of life. Data held by the European …

Cell‐free DNA screening and sex chromosome aneuploidies

MT Mennuti, S Chandrasekaran, N Khalek… - Prenatal …, 2015 - Wiley Online Library
Cell‐free DNA (cfDNA) testing is increasingly being used to screen pregnant women for fetal
aneuploidies. This technology may also identify fetal sex and can be used to screen for sex …

Turner syndrome systematic review: spontaneous thelarche and menarche stratified by karyotype

E Dabrowski, R Jensen, EK Johnson… - Hormone Research in …, 2020 - karger.com
Background: Girls with Turner syndrome (TS) have a high incidence of primary ovarian
insufficiency. Recent data show rates of spontaneous thelarche (ST) of 38% and …

Prenatal genetic diagnosis of a sex chromosome aneuploidy: parent experiences

KA Riggan, B Gross, S Close… - Journal of genetic …, 2021 - Wiley Online Library
Sex chromosome aneuploidies (SCAs) occur in 1 in every 400 births. SCAs are highly
variable and have uncertain prognoses, complicating the delivery of prenatal cell‐free DNA …

Screening, prenatal diagnosis, and prenatal decision for sex chromosome aneuploidy

Y Xu, L Chen, Y Liu, Y Hao, Z Xu… - Expert review of …, 2019 - Taylor & Francis
Objective: To assess the performance of non-invasive prenatal testing (NIPT) in screening
sex chromosome aneuploidy (SCA), and explore prenatal decision-making in NIPT positive …

Non‐invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction

J Hooks, AJ Wolfberg, ET Wang, CA Struble… - Prenatal …, 2014 - Wiley Online Library
Objective To assess the performance of a directed chromosomal analysis approach in the
prenatal evaluation of fetal sex chromosome aneuploidy. Methods We analyzed 432 frozen …