{"doi":"10.1111/bjh.20194","title":"Pregnancy and delivery outcomes in individuals with <scp><i>RUNX1</i></scp>‐Familial Platelet Disorder","abstract":"RUNX1-familial platelet disorder (FPD) is a dominantly inherited condition, caused by pathogenic variants in the RUNX1 gene. It is characterized by qualitative and quantitative platelet defects along with a 30%–50% lifetime risk of haematological malignancy.1, 2 Common symptoms include bruising susceptibility, abnormal bleeding, epistaxis and menorrhagia. While bleeding in this condition is well characterized, little has been reported about the pregnancy and delivery outcomes for individuals with RUNX1-FPD. Pregnancy complications have been reported for other inherited bleeding disorders.3-10 Those include antepartum bleeding, postpartum haemorrhage, need for blood transfusion, caesarean hysterectomy and maternal death. Intracranial haemorrhage is rare in affected infants, but cephalohematomas and subgaleal bleeds have been reported.8, 11 To better understand pregnancy and delivery outcomes in RUNX1-FPD, we retrospectively analysed data from 38 participants enrolled in the National Institutes of Health RUNX1 Natural History Study2 who had been pregnant (Table 1). None of the women had developed a haematological malignancy or had a haematopoietic stem cell transplant prior to their deliveries. Twenty-six women reported menorrhagia, which was generally controlled with hormonal contraceptives or progesterone intrauterine device. However, two women had been hospitalized and needed transfusions for menorrhagia. One woman received tranexamic acid (TXA) to control bleeding while trying to conceive. Four women ultimately elected for hysterectomies to control bleeding. In this cohort, there were 94 deliveries. The number of deliveries per woman ranged from 1 to 9, with a median of 2 and one set of twins. One delivery resulted in a stillbirth. There were an additional 13 reported miscarriages, the majority of which were first trimester. One miscarriage was at 3 months' gestation with excessive bleeding and required dilation and curettage (D&C). Thirty-two women did not know they had RUNX1-FPD during any of their pregnancies. Three were diagnosed before their first pregnancy and three additional learned after their first, but before subsequent pregnancies. The majority of pregnancies in this cohort were managed without awareness of the underlying diagnosis. Thrombocytopenia during pregnancy prompted RUNX1 testing in four women. One woman used in vitro fertilization with pre-implantation genetic testing (IFV-PGTM) for RUNX1. She did not have any prophylactic treatment nor did she experience adverse bleeding during egg retrieval or transfer. No women reported difficulty conceiving. Two women reported having amniocentesis, and neither had complications. Seven women reported spotting, to varying degrees of severity. Four were placed on bed rest due to bleeding, two in the second trimester and two in the third. One woman required cauterization for two pregnancies. Subchorionic haemorrhage occurred in five pregnancies, one of which required platelet transfusion. All of these resulted in live births. Two women had placenta previa; both delivered preterm (26 and 33 weeks) without requiring transfusions. Two women were diagnosed with preeclampsia and another with Haemolysis Elevated Liver Enzymes and Low Platelet (HELLP) Syndrome. Overall, two women had transfusions during pregnancy, but not during delivery. Placental abruption occurred in four pregnancies, three of which required emergent caesarean delivery and one—delivered prematurely at 33 weeks—required blood transfusion. Preterm delivery occurred in 10 pregnancies (11%). Thirty pregnancies were delivered via caesarean-section and 64 were delivered vaginally. Five were vaginal births after caesarean-sections (VBAC). Sixteen women had epidurals for 21 deliveries without complications. One had a platelet transfusion prior to her epidural. Seven women had transfusions for 10 deliveries. Seven were prophylactic platelet transfusions. Only one required intensive care unit admission for her third ","journal":"British Journal of Haematology","year":2025,"id":544511,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9568,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1321021,"name":"Lylach Haizler‐Cohen","orcid":"0000-0002-1976-7987","position":1,"is_corresponding":false},{"id":1435048,"name":"Amra Kajdic","orcid":null,"position":2,"is_corresponding":false},{"id":660007,"name":"Erica Bresciani","orcid":"0009-0001-5687-6365","position":3,"is_corresponding":false},{"id":1434657,"name":"K. L. Craft","orcid":"0000-0001-7313-3187","position":4,"is_corresponding":false},{"id":691622,"name":"Joie Davis","orcid":null,"position":5,"is_corresponding":false},{"id":1033594,"name":"Shawn Chong","orcid":"0009-0007-2174-8236","position":6,"is_corresponding":false},{"id":335253,"name":"David J. Young","orcid":"0000-0002-0885-8568","position":7,"is_corresponding":false},{"id":232072,"name":"Paul Liu","orcid":"0000-0002-6779-025X","position":8,"is_corresponding":false},{"id":218248,"name":"Natalie Deuitch","orcid":"0000-0002-0146-1162","position":0,"is_corresponding":true}],"reference_count":15,"raw_metadata":null,"created_at":"2026-07-19T02:53:12.864581Z","pmid":"40442754","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}