The Australian PreGen Study: Results From Prospective Prenatal Exome Sequencing in 275 Pregnancies.

Rowntree C, Fernihough G, Long S, Al-Shinnag M, Wilson A, Parmar J, Hart N, MacShane M, Ross K, Milnes D, Kamien B, Dickinson JE, Hyett J, Smoleniec J, McGregor L, Stenhouse R, Vink R, Lunke S, Wall M, Jong L, Kulkarni A, Kenyon R, Feng J, Jackson MR, Kassahn K, Scott HS, Kirk E, Smith M, Zhang F, Kraindler J, Rynehart L, Shrestha R, Schofield D, Zhu Y, Buckley MF, McGillivray G, Roscioli T, PreGen Consortium

Open source

DOI: 10.1002/pd.70256
Published: 2026 Sep 24
Container: Prenatal diagnosis
Publisher: Not recorded
Open access: unknown

Credibility signals

limited evidence Score 43/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1002/pd.70256,
  title = {The Australian PreGen Study: Results From Prospective Prenatal Exome Sequencing in 275 Pregnancies.},
  author = {Rowntree C and Fernihough G and Long S and Al-Shinnag M and Wilson A and Parmar J and Hart N and MacShane M and Ross K and Milnes D and Kamien B and Dickinson JE and Hyett J and Smoleniec J and McGregor L and Stenhouse R and Vink R and Lunke S and Wall M and Jong L and Kulkarni A and Kenyon R and Feng J and Jackson MR and Kassahn K and Scott HS and Kirk E and Smith M and Zhang F and Kraindler J and Rynehart L and Shrestha R and Schofield D and Zhu Y and Buckley MF and McGillivray G and Roscioli T and PreGen Consortium},
  year = {2026},
  journal = {Prenatal diagnosis},
  doi = {10.1002/pd.70256},
  url = {https://doi.org/10.1002/pd.70256}
}

RIS

TY  - JOUR
TI  - The Australian PreGen Study: Results From Prospective Prenatal Exome Sequencing in 275 Pregnancies.
AU  - Rowntree C
AU  - Fernihough G
AU  - Long S
AU  - Al-Shinnag M
AU  - Wilson A
AU  - Parmar J
AU  - Hart N
AU  - MacShane M
AU  - Ross K
AU  - Milnes D
AU  - Kamien B
AU  - Dickinson JE
AU  - Hyett J
AU  - Smoleniec J
AU  - McGregor L
AU  - Stenhouse R
AU  - Vink R
AU  - Lunke S
AU  - Wall M
AU  - Jong L
AU  - Kulkarni A
AU  - Kenyon R
AU  - Feng J
AU  - Jackson MR
AU  - Kassahn K
AU  - Scott HS
AU  - Kirk E
AU  - Smith M
AU  - Zhang F
AU  - Kraindler J
AU  - Rynehart L
AU  - Shrestha R
AU  - Schofield D
AU  - Zhu Y
AU  - Buckley MF
AU  - McGillivray G
AU  - Roscioli T
AU  - PreGen Consortium
PY  - 2026
JO  - Prenatal diagnosis
DO  - 10.1002/pd.70256
UR  - https://doi.org/10.1002/pd.70256
ER  -

APA

C, R., G, F., S, L., M, A., A, W., J, P., N, H., M, M., K, R., D, M., B, K., JE, D., J, H., J, S., L, M., R, S., R, V., S, L., M, W., L, J., A, K., R, K., J, F., MR, J., K, K., HS, S., E, K., M, S., F, Z., J, K., L, R., R, S., D, S., Y, Z., MF, B., G, M., T, R., & Consortium, P. (2026). The Australian PreGen Study: Results From Prospective Prenatal Exome Sequencing in 275 Pregnancies.. Prenatal diagnosis. https://doi.org/10.1002/pd.70256

Source records

pubmed · retrieved 2026-09-25T07:10:03.999Z