Pre-conception clinical risk factors differ between spontaneous and indicated preterm birth in a densely phenotyped EHR cohort

Abstract Background Preterm birth (PTB) is the leading cause of infant mortality. Risk for PTB is influenced by multiple biological pathways, many of which are poorly understood. Some PTBs result from medically indicated labor following complications from hypertension and/or diabetes, while many oth...

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Main Authors: Jean M. Costello, Hannah Takasuka, Jacquelyn Roger, Ophelia Yin, Alice Tang, Tomiko Oskotsky, Marina Sirota, John A. Capra
Format: Article
Language:English
Published: BMC 2025-02-01
Series:BMC Pregnancy and Childbirth
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Online Access:https://doi.org/10.1186/s12884-025-07166-2
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author Jean M. Costello
Hannah Takasuka
Jacquelyn Roger
Ophelia Yin
Alice Tang
Tomiko Oskotsky
Marina Sirota
John A. Capra
author_facet Jean M. Costello
Hannah Takasuka
Jacquelyn Roger
Ophelia Yin
Alice Tang
Tomiko Oskotsky
Marina Sirota
John A. Capra
author_sort Jean M. Costello
collection DOAJ
description Abstract Background Preterm birth (PTB) is the leading cause of infant mortality. Risk for PTB is influenced by multiple biological pathways, many of which are poorly understood. Some PTBs result from medically indicated labor following complications from hypertension and/or diabetes, while many others are spontaneous with unknown causes. Previously, investigation of potential risk factors has been limited by a lack of data on maternal medical history and the difficulty of classifying PTBs as indicated or spontaneous. Here, we leverage electronic health record (EHR) data (patient health information including demographics, diagnoses, and medications) and a supplemental curated pregnancy database to overcome these limitations. Novel associations may provide new insight into the pathophysiology of PTB as well as help identify individuals who would be at risk of PTB. Methods We quantified associations between maternal diagnoses and preterm birth both with and without controlling for maternal age and socioeconomic factors within a University of California, San Francisco (UCSF), EHR cohort with 10,643 births (n term  = 9692, n spontaneous_preterm  = 449, n indicated_preterm  = 418) and maternal pre-conception diagnoses derived from International Classification of Diseases (ICD) 9 and 10 codes. Results Thirty diagnoses significantly and robustly (False Discovery Rate (FDR) < 0.05) associated with indicated PTBs compared to term. We discovered known (hypertension, diabetes, and chronic kidney disease) and less established (blood, cardiac, gynecological, and liver diagnoses) associations. Essential hypertension had the most significant association with indicated PTB (adjusted pBH = 4 × 10–20, adjusted OR = 6 (95% CI 4-8)), and the odds ratios for the significant diagnoses ranged from 2 to 23. The results for indicated PTB largely recapitulated the diagnosis associations with all PTBs. However, no diagnosis significantly associated with spontaneous PTB. Conclusions Our study underscores the limitations of approaches that combine indicated and spontaneous births. When combined, significant associations were almost entirely driven by indicated PTBs, although the spontaneous and indicated groups were of a similar size. Investigating the spontaneous population has the potential to reveal new pathways and understanding of the heterogeneity of PTB.
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spelling doaj-art-a5d3f82bf42e4a93a41781e9e6c87f0e2025-08-20T03:01:00ZengBMCBMC Pregnancy and Childbirth1471-23932025-02-0125111310.1186/s12884-025-07166-2Pre-conception clinical risk factors differ between spontaneous and indicated preterm birth in a densely phenotyped EHR cohortJean M. Costello0Hannah Takasuka1Jacquelyn Roger2Ophelia Yin3Alice Tang4Tomiko Oskotsky5Marina Sirota6John A. Capra7Bakar Computational Health Sciences Institute, UCSFGraduate Program in Oral and Craniofacial Sciences, UCSFGraduate Program in Biological and Medical Informatics, UCSFDepartment of Obstetrics, Gynecology & Reproductive Sciences, UCSFGraduate Program in Bioengineering, UCSF and UC BerkeleyBakar Computational Health Sciences Institute, UCSFBakar Computational Health Sciences Institute, UCSFBakar Computational Health Sciences Institute, UCSFAbstract Background Preterm birth (PTB) is the leading cause of infant mortality. Risk for PTB is influenced by multiple biological pathways, many of which are poorly understood. Some PTBs result from medically indicated labor following complications from hypertension and/or diabetes, while many others are spontaneous with unknown causes. Previously, investigation of potential risk factors has been limited by a lack of data on maternal medical history and the difficulty of classifying PTBs as indicated or spontaneous. Here, we leverage electronic health record (EHR) data (patient health information including demographics, diagnoses, and medications) and a supplemental curated pregnancy database to overcome these limitations. Novel associations may provide new insight into the pathophysiology of PTB as well as help identify individuals who would be at risk of PTB. Methods We quantified associations between maternal diagnoses and preterm birth both with and without controlling for maternal age and socioeconomic factors within a University of California, San Francisco (UCSF), EHR cohort with 10,643 births (n term  = 9692, n spontaneous_preterm  = 449, n indicated_preterm  = 418) and maternal pre-conception diagnoses derived from International Classification of Diseases (ICD) 9 and 10 codes. Results Thirty diagnoses significantly and robustly (False Discovery Rate (FDR) < 0.05) associated with indicated PTBs compared to term. We discovered known (hypertension, diabetes, and chronic kidney disease) and less established (blood, cardiac, gynecological, and liver diagnoses) associations. Essential hypertension had the most significant association with indicated PTB (adjusted pBH = 4 × 10–20, adjusted OR = 6 (95% CI 4-8)), and the odds ratios for the significant diagnoses ranged from 2 to 23. The results for indicated PTB largely recapitulated the diagnosis associations with all PTBs. However, no diagnosis significantly associated with spontaneous PTB. Conclusions Our study underscores the limitations of approaches that combine indicated and spontaneous births. When combined, significant associations were almost entirely driven by indicated PTBs, although the spontaneous and indicated groups were of a similar size. Investigating the spontaneous population has the potential to reveal new pathways and understanding of the heterogeneity of PTB.https://doi.org/10.1186/s12884-025-07166-2Spontaneous preterm birthIndicated preterm birthElectronic health recordsDiagnosis associations
spellingShingle Jean M. Costello
Hannah Takasuka
Jacquelyn Roger
Ophelia Yin
Alice Tang
Tomiko Oskotsky
Marina Sirota
John A. Capra
Pre-conception clinical risk factors differ between spontaneous and indicated preterm birth in a densely phenotyped EHR cohort
BMC Pregnancy and Childbirth
Spontaneous preterm birth
Indicated preterm birth
Electronic health records
Diagnosis associations
title Pre-conception clinical risk factors differ between spontaneous and indicated preterm birth in a densely phenotyped EHR cohort
title_full Pre-conception clinical risk factors differ between spontaneous and indicated preterm birth in a densely phenotyped EHR cohort
title_fullStr Pre-conception clinical risk factors differ between spontaneous and indicated preterm birth in a densely phenotyped EHR cohort
title_full_unstemmed Pre-conception clinical risk factors differ between spontaneous and indicated preterm birth in a densely phenotyped EHR cohort
title_short Pre-conception clinical risk factors differ between spontaneous and indicated preterm birth in a densely phenotyped EHR cohort
title_sort pre conception clinical risk factors differ between spontaneous and indicated preterm birth in a densely phenotyped ehr cohort
topic Spontaneous preterm birth
Indicated preterm birth
Electronic health records
Diagnosis associations
url https://doi.org/10.1186/s12884-025-07166-2
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