Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

(2014) Maria I. New et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the united kingdom

(2013) Melissa Hill et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Non-invasive prenatal diagnosis for single gene disorders: experience of patients

(2013) C. Lewis et al.   CLINICAL GENETICS

Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies

(2013) Elles M. J. Boon et al.   PRENATAL DIAGNOSIS

Noninvasive prenatal testing: the paradigm is shifting rapidly

(2013) Lyn S. Chitty et al.   PRENATAL DIAGNOSIS

Commercial landscape of noninvasive prenatal testing in the United States

(2013) Ashwin Agarwal et al.   PRENATAL DIAGNOSIS

Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA

(2013) Lyn S. Chitty et al.   PRENATAL DIAGNOSIS

The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

(2013) Nicholas Lench et al.   PRENATAL DIAGNOSIS

Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users’ perspective

(2012) Celine Lewis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Evaluation of a Novel Assay for Detection of the Fetal Marker RASSF1A: Facilitating Improved Diagnostic Reliability of Noninvasive Prenatal Diagnosis

(2012) Helen E. White et al.   PLoS One

Non-invasive prenatal determination of fetal sex: translating research into clinical practice

(2010) M Hill et al.   CLINICAL GENETICS

Update on Procedure-Related Risks for Prenatal Diagnosis Techniques

(2010) Ann Tabor et al.   FETAL DIAGNOSIS AND THERAPY

New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma

(2010) L. S. Chitty et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Hypochondroplasia and acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

(2008) Lidia Castro-Feijóo et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma

(2008) F. M. F. Lun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA