[HTML][HTML] Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy …
N Chandler, S Best, J Hayward, F Faravelli… - Genetics in …, 2018 - Elsevier
Purpose Unexpected fetal abnormalities occur in 2–5% of pregnancies. While traditional
cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of …
cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of …
A pragmatic evidence-based approach to post-mortem perinatal imaging
Post-mortem imaging has a high acceptance rate amongst parents and healthcare
professionals as a non-invasive method for investigating perinatal deaths. Previously …
professionals as a non-invasive method for investigating perinatal deaths. Previously …
Perinatal death investigations: What is current practice?
Perinatal death (PD) is a devastating obstetric complication. Determination of cause of death
helps in understanding why and how it occurs, and it is an indispensable aid to parents …
helps in understanding why and how it occurs, and it is an indispensable aid to parents …
Post-mortem perinatal imaging: what is the evidence?
Post-mortem imaging for the investigation of perinatal deaths is an acceptable tool amongst
parents and religious groups, enabling a less invasive autopsy examination. Nevertheless …
parents and religious groups, enabling a less invasive autopsy examination. Nevertheless …
Less‐invasive autopsy for early pregnancy loss
Autopsy investigations provide valuable information regarding fetal death that can assist in
the parental bereavement process, and influence future pregnancies, but conventional …
the parental bereavement process, and influence future pregnancies, but conventional …
Exome sequencing for perinatal phenotypes: the significance of deep phenoty**
Objective To ascertain the performance of exome sequencing (ES) technology for
determining the etiological basis of abnormal perinatal phenotypes and to study the impact …
determining the etiological basis of abnormal perinatal phenotypes and to study the impact …
Potential clinical benefits and limitations of fetal virtopsy using high‐field MRI at 7 Tesla versus stereomicroscopic autopsy to assess first trimester fetuses
Objective The aim of this study was to establish the diagnostic accuracy of high‐field
magnetic resonance imaging (MRI) at 7 Tesla (T) compared with that of stereomicroscopic …
magnetic resonance imaging (MRI) at 7 Tesla (T) compared with that of stereomicroscopic …
Meckel syndrome: Clinical and mutation profile in six fetuses
Meckel syndrome (MKS) is a perinatally lethal, genetically heterogeneous, autosomal
recessive condition caused by defective primary cilium formation leading to polydactyly …
recessive condition caused by defective primary cilium formation leading to polydactyly …
[PDF][PDF] REVIEW AND CASE SERIES
M Şorop-Florea, RN Ciurea, M Ioana… - Rom J Morphol …, 2017 - academia.edu
Perinatal autopsy remains the gold-standard procedure used to establish the fetal, neonatal
or infant abnormalities. Progressively, perinatal pathology has become a specialized field …
or infant abnormalities. Progressively, perinatal pathology has become a specialized field …
Alternatives to autopsy for fetal and early neonatal (perinatal) deaths: insights from the Wisconsin stillbirth service program
E McPherson, E Nestoridi, D Heinke… - Birth defects …, 2017 - Wiley Online Library
Background Although autopsy is a key component of the etiologic evaluation following fetal
and early neonatal death, and traditionally has been the preferred method to determine the …
and early neonatal death, and traditionally has been the preferred method to determine the …