Diagnostic yield of prenatal exome sequencing in the genetic screening of fetuses with brain anomalies detected by MRI and ultrasonography: A systematic review and meta‐analysis

Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis

(2022) Rhiannon Mellis et al.   PRENATAL DIAGNOSIS

eP146: Application of exome sequencing in patients of congenital anomalies with or without intellectual disability

(2022) Rai-Hseng Hsu et al.   GENETICS IN MEDICINE

Fetal corpus callosum abnormalities: Ultrasound and magnetic resonance imaging role

(2022) Behnaz Moradi et al.   JOURNAL OF CLINICAL ULTRASOUND

Fetal brain imaging: A comparison between fetal ultrasonography and intra uterine magnetic resonance imaging (a systematic review and meta‐analysis)

(2022) Behnaz Moradi et al.   JOURNAL OF CLINICAL ULTRASOUND

Early detection of ischemic brain injuries by diffusion‐weighted imaging after radiofrequency ablation for fetal reduction in monochorionic pregnancies

(2022) Behnaz Moradi et al.   JOURNAL OF CLINICAL ULTRASOUND

International Society for Prenatal Diagnosis Updated Position Statement on the use of genome‐wide sequencing for prenatal diagnosis

(2022) Ignatia B. Van den Veyver et al.   PRENATAL DIAGNOSIS

Fetal central nervous system anomalies: When should we offer exome sequencing?

(2022) Caitlin Baptiste et al.   PRENATAL DIAGNOSIS

Effect sizes for contrasts of estimated marginal effects

(2022) Brian P. Shaw   Stata Journal

Exome sequencing as a first‐tier test for fetuses with severe central nervous system structural anomalies

(2022) Y. Yaron et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies

(2021) F Mone et al.   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY

The PRISMA 2020 statement: an updated guideline for reporting systematic reviews

(2021) Matthew J Page et al.   BMJ-British Medical Journal

Prenatal exome sequencing: A useful tool for the fetal neurologist

(2021) Maayke A. Koning et al.   CLINICAL GENETICS

The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)

(2020) Kristin G. Monaghan et al.   GENETICS IN MEDICINE

Clinical application of medical exome sequencing for prenatal diagnosis of fetal structural anomalies

(2020) Min Chen et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

Genetic tests aid in counseling of fetuses with cerebellar vermis defects

(2020) Lushan Li et al.   PRENATAL DIAGNOSIS

Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing

(2020) Hu Tan et al.   CLINICA CHIMICA ACTA

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

(2020) Solveig Heide et al.   GENETICS IN MEDICINE

Detection of submicroscopic chromosomal aberrations by chromosomal microarray analysis for the prenatal diagnosis of central nervous system abnormalities

(2020) Tingting Song et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

(2019) Jenny Lord et al.   LANCET

Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries

(2019) Nicole Meier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in ASH1L confer susceptibility to Tourette syndrome

(2019) Shiguo Liu et al.   MOLECULAR PSYCHIATRY

Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis

(2018) et al.   PRENATAL DIAGNOSIS

Whole-exome sequencing in fetuses with central nervous system abnormalities

(2018) Adi Reches et al.   Journal of Perinatology

Reducing inequities in preventable neural tube defects: the critical and underutilized role of neurosurgical advocacy for folate fortification

(2018) Dagoberto Estevez-Ordonez et al.   Neurosurgical Focus

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

(2017) Neeta L Vora et al.   GENETICS IN MEDICINE

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

(2016) Dimitri J Stavropoulos et al.   npj Genomic Medicine

Molecular genetics in fetal neurology

(2012) Jin Huang et al.   Seminars in Fetal & Neonatal Medicine

Prevalence and timing of pregnancy termination for brain malformations

(2011) C. Rouleau et al.   Archives of Disease in Childhood-Fetal and Neonatal Edition

Next generation sequencing--implications for clinical practice

(2011) E. Raffan et al.   BRITISH MEDICAL BULLETIN

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

(2011) Melanie A. Jones et al.   GENETICS IN MEDICINE

Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement

(2009) David Moher et al.   PLOS MEDICINE