The fetal phenotype is a trajectory, not a snapshot
- 1Department of Obstetrics and Prenatal Medicine University Hospital Bonn Bonn Germany
- 2Department of Obstetrics, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany
Abstract
The fetal phenotype is a trajectory rather than a fixed observation: features emerge, progress, or resolve across gestation, and the anomaly present at 20 weeks is often not the anomaly present at 32. Sequence variants, however, are interpreted against the phenotype supplied when the test is requested, and phenotypic specificity carries evidence weight in variant classification. A scoping review of 59 studies combining serial prenatal phenotyping with sequence‐based testing found that a newly emergent phenotype led to a molecular diagnosis in 16 studies and a variant reclassification in 8; yet a gestational age for every phenotypic observation was reported in 2, a serial imaging protocol in 7, and a reclassification with both direction and evidence code in 1. The clinical signal is real, and the literature cannot quantify it. Five reporting practices are proposed, none of which requires new equipment or funding.
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BibTeX
@article{recker2026fetal,
title = {{The fetal phenotype is a trajectory, not a snapshot}},
author = {Florian Recker and Adeline Walter and Ulrich Gembruch},
journal = {Acta Obstetricia et Gynecologica Scandinavica},
year = {2026},
month = oct,
doi = {10.1111/aogs.70369},
url = {https://doi.org/10.1111/aogs.70369},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - The fetal phenotype is a trajectory, not a snapshot
AU - Florian Recker
AU - Adeline Walter
AU - Ulrich Gembruch
PY - 2026
DA - 2026/10/27
JO - Acta Obstetricia et Gynecologica Scandinavica
DO - 10.1111/aogs.70369
UR - https://doi.org/10.1111/aogs.70369
AB - The fetal phenotype is a trajectory rather than a fixed observation: features emerge, progress, or resolve across gestation, and the anomaly present at 20 weeks is often not the anomaly present at 32. Sequence variants, however, are interpreted against the phenotype supplied when the test is requested, and phenotypic specificity carries evidence weight in variant classification. A scoping review of 59 studies combining serial prenatal phenotyping with sequence‐based testing found that a newly emergent phenotype led to a molecular diagnosis in 16 studies and a variant reclassification in 8; yet a gestational age for every phenotypic observation was reported in 2, a serial imaging protocol in 7, and a reclassification with both direction and evidence code in 1. The clinical signal is real, and the literature cannot quantify it. Five reporting practices are proposed, none of which requires new equipment or funding.
SN - 0001-6349
SN - 1600-0412
ER -