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Topic · Pediatrics, Perinatology and Child Health

Prenatal Screening and Diagnostics

Prenatal Screening and Diagnostics is a research topic within Pediatrics, Perinatology and Child Health. Science Explorer counts 40k research works in it since 1950. 10.1% of them reached the world's top 10% most cited for their field and year.

This cluster of papers focuses on the various techniques and methods for diagnosing and screening prenatal aneuploidy, including the use of maternal plasma DNA sequencing, noninvasive prenatal testing, preimplantation genetic diagnosis, and fetal DNA analysis. It also covers topics such as chromosomal abnormalities, trisomy detection, and genomic sequencing in the context of prenatal diagnosis.

  • Prenatal Diagnosis
  • Aneuploidy Screening
  • Maternal Plasma DNA Sequencing
  • Noninvasive Prenatal Testing
  • Chromosomal Abnormalities
  • Preimplantation Genetic Diagnosis
  • Fetal DNA Analysis
  • Cell-Free DNA
  • Trisomy Detection
  • Genomic Sequencing
Research works
40k
fractional, since 1950
In the world top 10%
4.1k
per year above
Top-10% rate
10.1%
share of its works in the world top 10%
Growth, 2018-21 → 2022-25
-2%
the tick is no change
Largest producer
United States
37% of the 10 largest, 2022-now
Prenatal Screening and Diagnostics

This ranks research output and citation impact. It says nothing about the quality of diagnosis, treatment or care.

Which countries lead Prenatal Screening and Diagnostics research?

By volume, the United States and China publish the most (1.5k and 930 works in 2022-now).

By volume, 2022-now

  1. 1 United States 1.5k works
  2. 2 China 930 works
  3. 3 India 361 works
  4. 4 United Kingdom 285 works
  5. 5 Italy 210 works
  6. 6 Germany 167 works
  7. 7 Canada 166 works
  8. 8 Spain 162 works
  9. 9 Australia 160 works
  10. 10 Japan 160 works

How concentrated that is

The same countries as shares of everything the list above accounts for. A node where two countries do two thirds of the work and one spread evenly across twelve read alike as a ranking and not at all alike here.

United States: 36.5%China: 22.7%India: 8.8%United Kingdom: 7.0%6 others listed: 25.0%37%largest
United States1,497 · 36.5%China930 · 22.7%India361 · 8.8%United Kingdom285 · 7.0%6 others listed1,025 · 25.0%

Shares of the rows listed above, not of the whole node.

Which institutions lead Prenatal Screening and Diagnostics research?

By volume in 2022-now, Harvard University publishes the most Prenatal Screening and Diagnostics research, followed by Tel Aviv University and Zhengzhou University.

By volume, 2022-now

  1. 1 Harvard UniversityUnited States 81 works
  2. 2 Tel Aviv UniversityIsrael 38 works
  3. 3 Zhengzhou UniversityChina 35 works
  4. 4 All India Institute of Medical SciencesIndia 34 works
  5. 5 University of TorontoCanada 33 works
  6. 6 Guangzhou Medical UniversityChina 32 works
  7. 7 Sichuan UniversityChina 30 works
  8. 8 Baylor College of MedicineUnited States 28 works
  9. 9 University of North Carolina at Chapel HillUnited States 28 works
  10. 10 Russian Academy of SciencesRussia 27 works

Who are the leading researchers in Prenatal Screening and Diagnostics?

The most-cited researchers publishing on Prenatal Screening and Diagnostics include Douglas G. Altman, George Davey Smith and Ali H. Mokdad.

  1. 1 Douglas G. Altman United Kingdom 862k citations
  2. 2 George Davey Smith United Kingdom 435k citations
  3. 3 Ali H. Mokdad United States 429k citations
  4. 4 Mark J. Daly United States 403k citations
  5. 5 Bert Vogelstein United States 373k citations
  6. 6 Zulfiqar Ahmed Bhutta Pakistan 371k citations
  7. 7 Elaine R. Mardis United States 346k citations
  8. 8 Cyrus Cooper United Kingdom 342k citations
  9. 9 Jun Wang China 340k citations
  10. 10 John P. A. Ioannidis United States 317k citations

Ranked by citations received across their whole record, among researchers with at least three works on this topic.

What are the most cited papers in Prenatal Screening and Diagnostics?

The most cited paper in Prenatal Screening and Diagnostics is "Presence of fetal DNA in maternal plasma and serum" (Yuk Ming Dennis Lo, Noemi Corbetta, Paul F. Chamberlain et al., 1997), with 3,097 citations. Next come "Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies" (2,934) and "Strong Association of De Novo Copy Number Mutations with Autism" (2,862).

Most cited papers
#PaperReleasedCitations
1 Presence of fetal DNA in maternal plasma and serum Yuk Ming Dennis Lo, Noemi Corbetta, Paul F. Chamberlain et al. · The Lancet Aug 1997 3,097
2 Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies David T. Miller et al. · The American Journal of Human Genetics Open access May 2010 2,934
3 Strong Association of De Novo Copy Number Mutations with Autism Jonathan L. Sebat et al. · Science Open access 15 Mar 2007 2,862
4 High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number Benjamin J. Hindson et al. · Analytical Chemistry Open access 28 Oct 2011 2,861
5 To err (meiotically) is human: the genesis of human aneuploidy Terry J Hassold, Patricia A. Hunt · Nature Reviews Genetics Review Apr 2001 2,528
All 100 most cited papers, with filters and sorting

Where is Prenatal Screening and Diagnostics research done?

The largest centres of Prenatal Screening and Diagnostics research in 2022-now are London (United Kingdom), New York (United States), Beijing (China) and Guangzhou (China). Among places with at least 20 works in it, it is an unusually large share of all research in Taichung.

Largest cities, 2022-now

  1. 1 LondonUnited Kingdom 109 works
  2. 2 New YorkUnited States 100 works
  3. 3 BeijingChina 96 works
  4. 4 GuangzhouChina 94 works
  5. 5 BostonUnited States 69 works
  6. 6 ParisFrance 65 works
  7. 7 ShanghaiChina 60 works
  8. 8 MelbourneAustralia 55 works
  9. 9 PhiladelphiaUnited States 54 works
  10. 10 TaichungTaiwan 54 works

Where it is the local speciality

  1. TaichungTW · 54.4 works10×
← less than its size predicts1×more →

Location quotient: how much more of its research is in Prenatal Screening and Diagnostics than the world average.

See Prenatal Screening and Diagnostics on the map

Where is the best place to study Prenatal Screening and Diagnostics?

Among universities, judged by research, Harvard University, Vrije Universiteit Brussel and Chinese University of Hong Kong score highest, combining excellence, specialisation, size, growth and international reach. Research strength is one signal when choosing where to study; it does not measure teaching.

0%20%40%mean 21.22%fractional works in this field (log) →share of work in the world top 10% →Radboud University N…Chinese University o…Vrije Universiteit B…Harvard University
above the meannear itbelow it

One dot per university in the first ten of the table below, at the default weights. The upper left is the interesting corner: small places doing unusually strong work.

Excellenceshare of its work in the world top 10%, 2022-now and all time averaged
40%
Specialisationhow much of its work is in this field, counted up to 10× the world share
10%
Sizeits output in this field, on a log scale
30%
Growthoutput growth, counted from -20% to +20%
10%
Internationalshare of its work with a co-author abroad
10%
Each slider sets a weight; the share it gets of the score is beside it.
#UniversityScoreTop 10%SpecialisationWorksGrowth
1Harvard UniversityUnited States 72.615.3%4.8×81 +5.1%
2Vrije Universiteit BrusselBelgium 65.224.3%6.8×10 +47.0%
3Chinese University of Hong KongChina 63.927.7%3.9×15 -25.2%
4Radboud University NijmegenNetherlands 61.631.9%2.9×9 +37.3%
5University of OxfordUnited Kingdom 60.421.9%2.4×18 +1.1%
6The University of MelbourneAustralia 59.917.5%3.6×21 +23.2%
7University of TorontoCanada 54.214.7%3.0×33 -6.6%
8Erasmus University RotterdamNetherlands 54.019.9%6.9×19 -10.8%
9Yale UniversityUnited States 53.615.2%4.2×25 +14.0%
10KU LeuvenBelgium 52.223.8%3.5×18 -24.2%

Universities only. The score blends excellence (40%), size (30%), specialisation (10%), growth (10%), international reach (10%), 2022-now; growth compares 2018-21 with 2022-25 and counts up to +20%, since a jump from a small base is mostly noise.

Every institution in Prenatal Screening and Diagnostics, country by country

Is Prenatal Screening and Diagnostics research growing?

Output in 2022-2025 was 2% lower than in 2018-2021, peaking in 2021.

still counting19801990200020102020
grewheldshrank

The same series as a ribbon: one cell per year, darker for more. The line above answers how much; this answers when.

Its share of all research

Growing output can still be a shrinking share: all of science grows. This is Prenatal Screening and Diagnostics as a percentage of every work published that year, 0.025% in 2024.

still counting0.020%0.040%0.060%Prenatal Screening and Diagnostics0.023% in 202519801990200020102020

Fractional works of Prenatal Screening and Diagnostics over all fractional works that year. How the balance of science has shifted.

How much of it reaches the world top 10%

Year by year.

still counting5%10%15%Prenatal Screening and Diagnostics10.3% in 2025200020102020

Of each year's works in it, the share that reached the world's 10% most cited for their field and year. A field is the world for its own topics, so there is no other line to hold it against.

Which topics inside it are moving

Growth and decline on one axis around a shared zero. Two lists side by side hide the thing that matters: whether the growth dwarfs the decline, or the other way round.

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