The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3 ‐related skeletal dysplasias

A sonographic approach to the prenatal diagnosis of skeletal dysplasias

(2019) Eva Pajkrt et al.   PRENATAL DIAGNOSIS

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

(2018) Natalie Chandler et al.   GENETICS IN MEDICINE

Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel

(2018) Xinyao Zhou et al.   PRENATAL DIAGNOSIS

Delivering an accredited non-invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice

(2018) Lucy A. Jenkins et al.   PRENATAL DIAGNOSIS

Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography and circulating cell-free fetal DNA analysis

(2018) Alexandre J. Vivanti et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Gonadal mosaicism and non-invasive prenatal diagnosis for ‘reassurance’ in sporadic paternal age effect (PAE) disorders

(2017) Andrew O. M. Wilkie et al.   PRENATAL DIAGNOSIS

Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis

(2015) Melissa Hill et al.   PRENATAL DIAGNOSIS

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

(2015) Lyn S. Chitty et al.   PRENATAL DIAGNOSIS

Client Views and Attitudes to Non-Invasive Prenatal Diagnosis for Sickle Cell Disease, Thalassaemia and Cystic Fibrosis

(2014) Melissa Hill et al.   Journal of Genetic Counseling

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

(2013) C. Lewis et al.   CLINICAL GENETICS

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

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

Association of midtrimester short femur and short humerus with fetal growth restriction

(2012) Ana Alice Vidal de Carvalho et al.   PRENATAL DIAGNOSIS

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

The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US

(2008) D.K. Waller et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A