Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2023 Aarhus International Turner Syndrome Meeting

CH Gravholt, NH Andersen… - European journal of …, 2024 - academic.oup.com
Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all
stages of life, necessitating multidisciplinary care. This guideline extends previous ones and …

[HTML][HTML] Fertility preservation: how to preserve ovarian function in children, adolescents and adults

MM Dolmans, C Hossay, TYT Nguyen… - Journal of clinical …, 2021 - mdpi.com
Chemotherapy, pelvic radiotherapy and ovarian surgery have known gonadotoxic effects
that can lead to endocrine dysfunction, cessation of ovarian endocrine activity and early …

Diagnostic testing after positive results on cell free DNA screening: CVS or Amnio?

AH Mardy, ME Norton - Prenatal diagnosis, 2021 - Wiley Online Library
Objective The positive predictive values of cell free DNA (cfDNA) and rates of confined
placental mosaicism (CPM), imprinting and other factors vary by chromosome. Methods We …

Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous?

RE Reiss, M Discenza, J Foster, L Dobson… - Prenatal …, 2017 - Wiley Online Library
Objectives To assess the incidence of sex chromosome aneuploidy (SCA) predicted by
noninvasive prenatal testing (NIPT), assess test performance, and compare it with nuchal …

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 …

Age at and indication for diagnosis of Turner syndrome in the pediatric population

S Swauger, P Backeljauw, L Hornung… - American Journal of …, 2021 - Wiley Online Library
Early diagnosis of Turner syndrome (TS) enables timely intervention and may improve
outcomes, but many are still diagnosed late. The objectives of our study were to describe the …

Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases

X Lu, C Wang, Y Sun, J Tang, K Tong, J Zhu - Molecular cytogenetics, 2021 - Springer
Objective To assess the positive predictive value (PPV) of noninvasive prenatal testing
(NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal …

Turner syndrome: New insights from prenatal genomics and transcriptomics

DW Bianchi - American Journal of Medical Genetics Part C …, 2019 - Wiley Online Library
In some parts of the world, prenatal screening using analysis of circulating cell‐free (cf) DNA
in the plasma of pregnant women has become part of routine prenatal care with limited …

Clinical features and pregnancy outcomes of women with abnormal cell-free fetal DNA test results

Q Zhou, ZP Zhu, B Zhang, B Yu… - Annals of …, 2019 - pmc.ncbi.nlm.nih.gov
Background This study was performed to examine the factors affecting attitudes regarding
prenatal diagnosis and clinical treatment by analyzing the clinical data of women with …

Cell-free DNA screening positive for monosomy X: clinical evaluation and management of suspected maternal or fetal Turner syndrome

T Dowlut-McElroy, S Davis, S Howell… - American journal of …, 2022 - Elsevier
Initially provided as an alternative to evaluation of serum analytes and nuchal translucency
for the assessment of pregnancies at high risk of trisomy 21, cell-free DNA screening for fetal …