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 2020-11-01 to 2024-11-01.)
ArticleCitations
Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis106
Uniparental disomy: Origin, frequency, and clinical significance54
International Society for Prenatal Diagnosis Updated Position Statement on the use of genome‐wide sequencing for prenatal diagnosis52
International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies44
Origins and mechanisms leading to aneuploidy in human eggs42
Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered40
Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies39
Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis33
Trio exome sequencing is highly relevant in prenatal diagnostics29
Lessons learnt from prenatal exome sequencing27
Artificial intelligence, fetal echocardiography, and congenital heart disease26
Outcome of fetal echogenic bowel: A systematic review and meta‐analysis26
Socioeconomic barriers to prenatal diagnosis of critical congenital heart disease26
Non‐invasive prenatal testing in the management of twin pregnancies25
Noninvasive screening for congenital heart defects using a serum metabolomics approach25
Overview and recent developments in cell‐based noninvasive prenatal testing24
Vertical transmission of SARS‐CoV2 during pregnancy: A high‐risk cohort24
Omphalocele—What should we tell the prospective parents?23
Development of standard definitions and grading for Maternal and Fetal Adverse Event Terminology23
Prenatal assessment of congenital diaphragmatic hernia at north american fetal therapy network centers: A continued plea for standardization22
The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes22
Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review22
Non‐invasive prenatal testing suggesting a maternal malignancy: What do we tell the prospective parents in Belgium?22
Diagnostic testing after positive results on cell free DNA screening: CVS or Amnio?22
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