Prenatal Diagnosis

Prenatal Diagnosis

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  • 2区 中科院分区
  • Q2 JCR分区

高引用文章

文章名称 引用次数
Promises, pitfalls and practicalities of prenatal whole exome sequencing 40
Maternal complications following open and fetoscopic fetal surgery: A systematic review and meta-analysis 19
Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing 16
Delivering an accredited non-invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice 16
ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient? 16
Expanded carrier screening for monogenic disorders: where are we now? 15
Proposal for standardized prenatal ultrasound assessment of the fetus with congenital diaphragmatic hernia by the European reference network on rare inherited and congenital anomalies (ERNICA) 14
The near disappearance of fetal hydrops in relation to current state-of-the-art management of red cell alloimmunization 13
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing 13
Zika virus during pregnancy: From maternal exposure to congenital Zika virus syndrome 12
Opening Pandora's box?: ethical issues in prenatal whole genome and exome sequencing 12
Fetal phenotypes emerge as genetic technologies become robust 12
Advanced paternal age, infertility, and reproductive risks: A review of the literature 11
Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing 11
Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations 10
Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision-making 10
Reproducibility of fetal lung-to-head ratio in left diaphragmatic hernia across the North American Fetal Therapy Network (NAFTNet) 9
The association between maternal methylenetetrahydrofolate reductase C677T and A1298C polymorphism and birth defects and adverse pregnancy outcomes 9
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations 9
cfDNA screening and diagnosis of monogenic disorders - where are we heading? 8
A study to assess global availability of fetal surgery for myelomeningocele 8
Perinatal outcomes following cell-free DNA screening in > 32 000 women: Clinical follow-up data from a single tertiary center 8
Rare autosomal trisomies: Important and not so rare 8
Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel 8
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 8
Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT 8
Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management 7
Diagnostic accuracy and clinical outcomes associated with prenatal diagnosis of fetal absent cavum septi pellucidi 7
Maternal liver transplant: Another cause of discordant fetal sex determination using cell-free DNA 6
Pandora's pregnancy: NIPT, CMA, and genome sequencing-A new era for prenatal genetic testing 6
A system-based approach to the genetic etiologies of non-immune hydrops fetalis 6
Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions 6
Ethical and counseling challenges in prenatal exome sequencing 6
Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review 5
Impact of prenatal diagnosis of complex congenital heart disease on neonatal and infant morbidity and mortality 5
Noninvasive reconstruction of placental methylome from maternal plasma DNA: Potential for prenatal testing and monitoring 5
Amniotic membrane and placental histopathological findings after open and fetoscopic prenatal neural tube defect repair 5
Spina bifida screening in the first trimester using ultrasound biparietal diameter measurement adjusted for crown-rump length or abdominal circumference 5
Clinical application of chromosomal microarray analysis for the prenatal diagnosis of chromosomal abnormalities and copy number variations in fetuses with congenital heart disease 5
Population-based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non-invasive prenatal testing 5
The association between severe fetal congenital heart defects and placental vascular malperfusion lesions 5
Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing 5
Parental perceptions of prenatal whole exome sequencing (PPPWES) study 5
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing 5
A sonographic approach to the prenatal diagnosis of skeletal dysplasias 5
Safety and efficacy of fetal surgery techniques to close a spina bifida defect in the fetal lamb model: A systematic review 5
Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple-based approach and examination of couples' views 4
Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia 4
Comparison of umbilical cord occlusion methods: Radiofrequency ablation versus laser photocoagulation 4
Characterizing cardiac dysfunction in fetuses with left congenital diaphragmatic hernia 4