The accuracy of cell‐free fetal DNA‐based non‐invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta‐analysis

FL Mackie, K Hemming, S Allen… - … Journal of Obstetrics …, 2017 - Wiley Online Library
Background Cell‐free fetal DNA (cff DNA) non‐invasive prenatal testing (NIPT) is rapidly
expanding, and is being introduced at varying rates depending on country and condition …

Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis

SA Devaney, GE Palomaki, JA Scott, DW Bianchi - Jama, 2011 - jamanetwork.com
Context Noninvasive prenatal determination of fetal sex using cell-free fetal DNA provides
an alternative to invasive techniques for some heritable disorders. In some countries this …

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline

PW Speiser, R Azziz, LS Baskin… - The Journal of …, 2010 - academic.oup.com
Objective: We developed clinical practice guidelines for congenital adrenal hyperplasia
(CAH). Participants: The Task Force included a chair, selected by The Endocrine Society …

The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis

CF Wright, H Burton - Human reproduction update, 2009 - academic.oup.com
BACKGROUND Cell-free fetal nucleic acids (cffNA) can be detected in the maternal
circulation during pregnancy, potentially offering an excellent method for early non-invasive …

Circulating fetal DNA: its origin and diagnostic potential—a review

DW Bianchi - Placenta, 2004 - Elsevier
OBJECTIVE: In contrast to the traditional teaching that the placenta forms an impermeable
barrier, multiple studies show that both intact fetal cells and cell-free nucleic acids circulate …

[HTML][HTML] EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

S Baumgartner-Parzer… - European Journal of …, 2020 - nature.com
Molecular genetic testing for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase
deficiency (21-OHD) is offered worldwide and is of importance for differential diagnosis …

Prenatal diagnosis: progress through plasma nucleic acids

YM Dennis Lo, RWK Chiu - Nature Reviews Genetics, 2007 - nature.com
Over the past 40 years, much effort has been spent on developing non-invasive prenatal
diagnostic methods. Since 1997, the progress of this field has been accelerated by the …

Diagnostic developments involving cell-free (circulating) nucleic acids

YK Tong, YMD Lo - Clinica chimica acta, 2006 - Elsevier
BACKGROUND: The detection of circulating nucleic acids has long been explored for the
non-invasive diagnosis of a variety of clinical conditions. In earlier studies, detection of …

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications

JC Harper, K Aittomäki, P Borry… - Human …, 2017 - academic.oup.com
Two leading European professional societies, the European Society of Human Genetics and
the European Society for Human Reproduction and Embryology, have worked together …

Placental-specific microRNA in maternal circulation–identification of appropriate pregnancy-associated microRNAs with diagnostic potential

K Kotlabova, J Doucha, I Hromadnikova - Journal of reproductive …, 2011 - Elsevier
The goal of this study was to identify placental specific microRNAs present in maternal
plasma that differentiate between women with normal pregnancies and nonpregnant …