Concepedia

Prenatal Diagnostic Testing

Prenatal Diagnostic Testing is a medical assessment procedure that belongs to the category of prenatal evaluations and specifically involves the direct analysis of fetal cells or genetic material to definitively diagnose chromosomal abnormalities, genetic disorders, or structural congenital conditions during pregnancy.

1.2K

Publications

66.7K

Citations

5.3K

Authors

1.6K

Institutions

Publications per year

2017–2026

235

Parents

Publications

1.2K

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

Randall K. Saiki, Stephen J. Scharf, Fred Faloona et al. · Science · 1985 · 9K citations

, , +17

Hematopoietic Reconstitution in a Patient with Fanconi's Anemia by Means of Umbilical-Cord Blood from an HLA-Identical Sibling

E Gluckman, HE Broxmeyer, Arleen D. Auerbach et al. · New England Journal of Medicine · 1989 · 2.1K citations

, , +16

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Ronald J. Wapner, Brynn Levy, Blake C. Ballif et al. · New England Journal of Medicine · 2012 · 1.4K citations · Full text

, , +17

Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments

Kun Sun, Peiyong Jiang, K.C. Allen Chan et al. · Proceedings of the National Academy of Sciences · 2015 · 809 citations · Full text

, , +17

Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

Rossa W. K. Chiu, Ranjit Akolekar, Yama W. L. Zheng et al. · BMJ · 2011 · 774 citations · Full text

, , +17

1–5 of 1.2K

Authors

5.3K

  1. LS
    Lyn S. Chitty

    University College London, United Kingdom

    25 publications · 1.4K citations

    20

    h-index

  2. MH
    Melissa Hill

    University College London, United Kingdom

    18 publications · 1.1K citations

    16

    h-index

  3. MK
    Miriam Kuppermann

    University of California, San Francisco, United States

    14 publications · 919 citations

    14

    h-index

  4. JH
    Jane Halliday

    Murdoch Children's Research Institute, Australia

    14 publications · 675 citations

    14

    h-index

  5. CL
    Celine Lewis

    University College London, United Kingdom

    12 publications · 541 citations

    12

    h-index

1–5 of 5.3K

Institutions

1.6K

  1. University College London

    London, United Kingdom

    29 h-index

    134 publications

    8K citations

  2. Murdoch Children's Research Institute

    Melbourne, Australia

    22 h-index

    85 publications

    4.1K citations

  3. The University of Melbourne

    Melbourne, Australia

    21 h-index

    64 publications

    3K citations

  4. University of California, San Francisco

    San Francisco, United States

    20 h-index

    71 publications

    5.4K citations

  5. Erasmus MC

    Rotterdam, The Netherlands

    18 h-index

    100 publications

    4K citations

  6. Erasmus University Rotterdam

    Rotterdam, The Netherlands

    17 h-index

    81 publications

    3.1K citations

  7. Chinese University of Hong Kong

    Hong Kong, Hong Kong

    17 h-index

    96 publications

    31.8K citations

  8. Johns Hopkins University

    Baltimore, United States

    15 h-index

    39 publications

    1.8K citations

1–8 of 1.6K

Venues

  1. Prenatal Diagnosis

    177 publications · 7.8K citations

    48

    h-index

  2. PubMed

    Repository · 84 publications · 2.1K citations

    26

    h-index

  3. Obstetrics and Gynecology

    26 publications · 2.7K citations

    23

    h-index

  4. Ultrasound in Obstetrics and Gynecology

    29 publications · 1.5K citations

    22

    h-index

  5. Journal of Genetic Counseling

    29 publications · 996 citations

    21

    h-index

1–5