Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart Association

MT Donofrio, AJ Moon-Grady, LK Hornberger… - Circulation, 2014 - Am Heart Assoc
Background—The goal of this statement is to review available literature and to put forth a
scientific statement on the current practice of fetal cardiac medicine, including the diagnosis …

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 …

Non‐invasive prenatal testing for aneuploidy: current status and future prospects

P Benn, H Cuckle, E Pergament - Ultrasound in Obstetrics & …, 2013 - Wiley Online Library
Non‐invasive prenatal testing (NIPT) for aneuploidy using cell‐free DNA in maternal plasma
is revolutionizing prenatal screening and diagnosis. We review NIPT in the context of …

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

D Oepkes, GC Page‐Christiaens, CJ Bax… - Prenatal …, 2016 - Wiley Online Library
Objective To evaluate the clinical impact of nationwide implementation of genome‐wide non‐
invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 …

Genomics‐based non‐invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

M Badeau, C Lindsay, J Blais… - Cochrane Database …, 2017 - cochranelibrary.com
Background Common fetal aneuploidies include Down syndrome (trisomy 21 or T21),
Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner …

Next‐generation sequencing: ready for the clinics?

AN Desai, A Jere - Clinical genetics, 2012 - Wiley Online Library
Desai AN, Jere A. Next‐generation sequencing: ready for the clinics? Next‐generation
sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing …

Care of the fetus with congenital cardiovascular disease: from diagnosis to delivery

CS Haxel, JN Johnson, S Hintz, MS Renno… - …, 2022 - publications.aap.org
The majority of congenital cardiovascular disease including structural cardiac defects,
abnormalities in cardiac function, and rhythm disturbances can be identified prenatally using …

Cell separations and sorting

MA Witek, IM Freed, SA Soper - Analytical chemistry, 2019 - ACS Publications
The development of new methods and technologies for cell separation, sorting, selection,
isolation, or enrichment (many times the aforementioned terms are used interchangeably) …

Methods for non-invasive prenatal ploidy calling

M Rabinowitz, G Gemelos, M Banjevic, A Ryan… - US Patent …, 2022 - Google Patents
The present disclosure provides methods for determining the ploidy status of a chromosome
in a gestating fetus from genotypic data measured from a mixed sample of DNA comprising …

Noninvasive prenatal molecular karyotyping from maternal plasma

SCY Yu, P Jiang, KW Choy, KCA Chan, HS Won… - PloS one, 2013 - journals.plos.org
Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of
maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex …