Thrombophilia screening in women with recurrent first trimester miscarriage: is it time to stop testing? – a cohort study and systematic review of the literature

Objective There are numerous studies reporting a disproportionally high prevalence of thrombophilia in women with a history of recurrent miscarriage (RM), which has led to overdiagnosis and treatment without an improvement in clinical outcomes. The objective of our study was to assess the prevalence...

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Main Authors: Hassan Shehata, Ranjit Akolekar, Amanda Ali, Mariane Silva-Edge, Shahla Haroon, Abdullatif Elfituri, Radhika Viswanatha, Haider Jan
Format: Article
Language:English
Published: BMJ Publishing Group 2022-07-01
Series:BMJ Open
Online Access:https://bmjopen.bmj.com/content/12/7/e059519.full
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author Hassan Shehata
Ranjit Akolekar
Amanda Ali
Mariane Silva-Edge
Shahla Haroon
Abdullatif Elfituri
Radhika Viswanatha
Haider Jan
author_facet Hassan Shehata
Ranjit Akolekar
Amanda Ali
Mariane Silva-Edge
Shahla Haroon
Abdullatif Elfituri
Radhika Viswanatha
Haider Jan
author_sort Hassan Shehata
collection DOAJ
description Objective There are numerous studies reporting a disproportionally high prevalence of thrombophilia in women with a history of recurrent miscarriage (RM), which has led to overdiagnosis and treatment without an improvement in clinical outcomes. The objective of our study was to assess the prevalence of inherited and acquired thrombophilia in a large cohort of women with a history of early RM using internationally agreed diagnostic criteria and inclusion parameters and compare it to the meta-analysis results of existing literature.Methods Design Retrospective cohort study and systematic review of literature.Setting This is a retrospective cohort study set-up in two dedicated tertiary centres for women with RM in Southwest London and Surrey. We reviewed all the available literature related to causes of RMs. We ascertained the prevalence of thrombophilia in the study population and compared it with historical and published prevalence in the general population.Participants 1155 women between 2012 and 2017. All patients had three or more first trimester miscarriages and a full thrombophilia screen.Results The overall prevalence of thrombophilia in our study population is 9.2% (106/1155) with 8.1% (94/1155) of cases positive for inherited thrombophilia, which is similar to the general population; Factor V Leiden (4.9%; 57/1155) and prothrombin gene mutation (2.9%; 34/1155) were the most common inherited thrombophilias, while only 1% (12/1155) tested positive for acquired thrombophilia. Persistent positive lupus anticoagulant (LA) was found in 0.5% (6/1155) and persistent positive anticardiolipin (ACL) antibodies with a value ≥40 U/mL was found in 0.5% (6/1155) of patients. Tests for LA/ACL were performed a minimum of 12 weeks apart thus meeting the revised Sapporo criteria for a diagnosis of antiphospholipid syndrome.Conclusion The findings of our study demonstrate that the prevalence of inherited thrombophilia is similar in women with RM to that in the general population. Similarly, the prevalence of acquired thrombophilia, using the revised Sapporo criteria, in the cohort of RMs is similar to that in the general population. Therefore, we do not recommend investigation or treatment of inherited or acquired thrombophilia in women with RM.PROSPERO registration number CRD42020223554.
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publishDate 2022-07-01
publisher BMJ Publishing Group
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series BMJ Open
spelling doaj-art-c86a6e21e2f94263bccf2bd3625b79d22025-01-30T18:35:09ZengBMJ Publishing GroupBMJ Open2044-60552022-07-0112710.1136/bmjopen-2021-059519Thrombophilia screening in women with recurrent first trimester miscarriage: is it time to stop testing? – a cohort study and systematic review of the literatureHassan Shehata0Ranjit Akolekar1Amanda Ali2Mariane Silva-Edge3Shahla Haroon4Abdullatif Elfituri5Radhika Viswanatha6Haider Jan7Women`s Helath, Epsom and St Helier University Hospitals NHS Trust, Carshalton, Sutton, UKWomen`s Health, Medway Maritime Hospital, Gillingham, Kent, UKWomen`s Health, Kingston Hospital NHS Foundation Trust, Kingston upon Thames, London, UKCentre for Reproductive Immunology and Pregnancy, Epsom, Surrey, UKWomen`s Helath, Epsom and St Helier University Hospitals NHS Trust, Carshalton, Sutton, UKWomen`s Helath, Epsom and St Helier University Hospitals NHS Trust, Carshalton, Sutton, UKWomen`s Helath, Epsom and St Helier University Hospitals NHS Trust, Carshalton, Sutton, UKWomen`s Helath, Epsom and St Helier University Hospitals NHS Trust, Carshalton, Sutton, UKObjective There are numerous studies reporting a disproportionally high prevalence of thrombophilia in women with a history of recurrent miscarriage (RM), which has led to overdiagnosis and treatment without an improvement in clinical outcomes. The objective of our study was to assess the prevalence of inherited and acquired thrombophilia in a large cohort of women with a history of early RM using internationally agreed diagnostic criteria and inclusion parameters and compare it to the meta-analysis results of existing literature.Methods Design Retrospective cohort study and systematic review of literature.Setting This is a retrospective cohort study set-up in two dedicated tertiary centres for women with RM in Southwest London and Surrey. We reviewed all the available literature related to causes of RMs. We ascertained the prevalence of thrombophilia in the study population and compared it with historical and published prevalence in the general population.Participants 1155 women between 2012 and 2017. All patients had three or more first trimester miscarriages and a full thrombophilia screen.Results The overall prevalence of thrombophilia in our study population is 9.2% (106/1155) with 8.1% (94/1155) of cases positive for inherited thrombophilia, which is similar to the general population; Factor V Leiden (4.9%; 57/1155) and prothrombin gene mutation (2.9%; 34/1155) were the most common inherited thrombophilias, while only 1% (12/1155) tested positive for acquired thrombophilia. Persistent positive lupus anticoagulant (LA) was found in 0.5% (6/1155) and persistent positive anticardiolipin (ACL) antibodies with a value ≥40 U/mL was found in 0.5% (6/1155) of patients. Tests for LA/ACL were performed a minimum of 12 weeks apart thus meeting the revised Sapporo criteria for a diagnosis of antiphospholipid syndrome.Conclusion The findings of our study demonstrate that the prevalence of inherited thrombophilia is similar in women with RM to that in the general population. Similarly, the prevalence of acquired thrombophilia, using the revised Sapporo criteria, in the cohort of RMs is similar to that in the general population. Therefore, we do not recommend investigation or treatment of inherited or acquired thrombophilia in women with RM.PROSPERO registration number CRD42020223554.https://bmjopen.bmj.com/content/12/7/e059519.full
spellingShingle Hassan Shehata
Ranjit Akolekar
Amanda Ali
Mariane Silva-Edge
Shahla Haroon
Abdullatif Elfituri
Radhika Viswanatha
Haider Jan
Thrombophilia screening in women with recurrent first trimester miscarriage: is it time to stop testing? – a cohort study and systematic review of the literature
BMJ Open
title Thrombophilia screening in women with recurrent first trimester miscarriage: is it time to stop testing? – a cohort study and systematic review of the literature
title_full Thrombophilia screening in women with recurrent first trimester miscarriage: is it time to stop testing? – a cohort study and systematic review of the literature
title_fullStr Thrombophilia screening in women with recurrent first trimester miscarriage: is it time to stop testing? – a cohort study and systematic review of the literature
title_full_unstemmed Thrombophilia screening in women with recurrent first trimester miscarriage: is it time to stop testing? – a cohort study and systematic review of the literature
title_short Thrombophilia screening in women with recurrent first trimester miscarriage: is it time to stop testing? – a cohort study and systematic review of the literature
title_sort thrombophilia screening in women with recurrent first trimester miscarriage is it time to stop testing a cohort study and systematic review of the literature
url https://bmjopen.bmj.com/content/12/7/e059519.full
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