Prenatal Diagnosis

Papers
(The H4-Index of Prenatal Diagnosis is 22. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-06-01 to 2025-06-01.)
ArticleCitations
Issue Information147
83
64
Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes48
Different expressions of cardiac biomarkers between different types of acquired right ventricular outflow tract abnormality in monochorionic twins41
Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling34
Cover Image33
Association between low fetal fraction in cell‐free DNA testing and adverse pregnancy outcome: A systematic review31
The aorto‐left ventricular tunnel from a fetal perspective: Original case series and literature review30
A microfluidic platform for high‐purity cell free DNA extraction from plasma for non‐invasive prenatal testing30
Calf circumferences in fetuses and neonates with and without talipes equinovares. A prospective cohort study27
Response to Moldenhauer, Johnson & Van Mieghem ISPD 2022 DEBATE: There should be formal accreditation and ongoing quality assurance/review for units offering fetal therapy that includes public rep27
Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant26
Connecting the dots: Carrier screening and the Genetic Information Nondiscrimination Act in the United States26
Low fetal fraction in cell‐free DNA testing is associated with adverse pregnancy outcome: Analysis of a subcohort of the TRIDENT‐2 study25
Response to the correspondence on “Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting”25
S100B in maternal circulation of pregnancies complicated by FGR and brain sparing24
Prenatal exome sequencing for the morphologically normal fetus: Should we be doing it?24
Understanding the experiences and perspectives of prenatal screening among a diverse cohort24
Appropriately Grown Monochorionic Diamniotic Twins With Intermittent Absent and Reversed End‐Diastolic Umbilical Artery Flow: Proximate Cord Insertion Is a Key Risk Marker24
23
Congenital heart anomalies in the first trimester: From screening to diagnosis23
Brain Abnormalities in Prenatally Diagnosed Rubinstein‐Taybi Syndrome22
Impact of the cystic neural tube defects on fetal motor function in prenatal myelomeningocele repairs: A retrospective cohort study22
Prenatal Diagnosis of Horseshoe Lung: A Report of Three Cases and Review of the Literature22
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