Sex selection and non‐invasive prenatal testing: A review of current practices, evidence, and ethical issues

H Bowman‐Smart, J Savulescu, C Gyngell… - Prenatal …, 2020 - Wiley Online Library
Non‐invasive prenatal testing (NIPT) can determine the sex of the fetus very accurately and
very early in gestation. There are concerns that the ease, timing, and accuracy of NIPT sex …

Disorders of sex development: effect of molecular diagnostics

JC Achermann, S Domenice, TASS Bachega… - Nature Reviews …, 2015 - nature.com
Disorders of sex development (DSDs) are a diverse group of conditions that can be
challenging to diagnose accurately using standard phenotypic and biochemical …

[HTML][HTML] Fetal sex results of noninvasive prenatal testing and differences with ultrasonography

R Dhamankar, W DiNonno, KA Martin… - Obstetrics & …, 2020 - journals.lww.com
OBJECTIVE: To assess the causes of reported discordance between noninvasive prenatal
testing (NIPT) and ultrasound or other clinical information. METHODS: In this retrospective …

[HTML][HTML] Non-invasive prenatal testing using cell free DNA in maternal plasma: recent developments and future prospects

P Benn - Journal of clinical medicine, 2014 - mdpi.com
Recent advances in molecular genetic technologies have facilitated non-invasive prenatal
testing (NIPT) through the analysis of cell-free fetal DNA in maternal plasma. NIPT can be …

Discordant sex between fetal screening and postnatal phenotype requires evaluation

HM Byers, W Neufeld-Kaiser, EY Chang… - Journal of …, 2019 - nature.com
Objective Non-invasive prenatal screening (NIPS) utilizes circulating cell-free DNA (cfDNA)
to screen for fetal genetic abnormalities. NIPS is the first widely-available prenatal screen to …

[HTML][HTML] The current applications of cell-free fetal DNA in prenatal diagnosis of single-gene diseases: A review

MM Mortazavipour, S Shahbazi - International Journal of …, 2022 - ncbi.nlm.nih.gov
Prenatal diagnosis of hereditary diseases has substantially altered the way medical
geneticists are helping families affected by genetic disorders. However, the risk of …

First-trimester determination of fetal gender by ultrasound: measurement of the ano-genital distance

A Arfi, J Cohen, G Canlorbe, S Bendifallah… - European Journal of …, 2016 - Elsevier
Introduction Early ultrasound fetal sex determination is of obvious interest, particularly in the
context of X-linked diseases. In the human, the anogenital distance, ie, the distance between …

Accuracy of fetal sex determination on ultrasound examination in the first trimester of pregnancy

S Manzanares, A Benítez… - Journal of Clinical …, 2016 - Wiley Online Library
Purpose The aim of this study was to evaluate the feasibility and success rate of sex
determination on transabdominal sonographic examination at 11–13 weeks' gestation and …

Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development

Z Qian, K Grand, A Freedman, MC Nieto… - American Journal of …, 2021 - Wiley Online Library
Ovotesticular differences of sexual development (OT‐DSD) are rare genetic variances
defined by the coexistence of both testicular and ovarian tissues. Various molecular …

Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms

F Fuchs, P Borrego, C Amouroux, B Antoine… - BJU …, 2019 - Wiley Online Library
Objectives To report the clinical spectrum of genital defects diagnosed before birth, identify
predictive factors for severe phenotypes at birth, and determine the rate of associated …