{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T02:06:26Z","timestamp":1761789986022,"version":"3.40.5"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T00:00:00Z","timestamp":1667865600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Transfusion"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pyruvate Kinase (PK) deficiency is the most common enzyme defect of glycolysis, leading to congenital hemolytic anemia, which can occur during the neonatal period.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study Design and Methods<\/jats:title><jats:p>We report the prenatal management of fetal anemia related to PK deficiency in a family with a severe proband.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The couple had a first child born with hydrops, whose PK deficiency was diagnosed at 18\u2009months of life. He was treated with allogeneic bone marrow transplantation. The second child was free from disease. For the third pregnancy, the amniocentesis revealed a PK deficiency. Weekly ultrasound monitoring of the middle cerebral artery velocity allowed the detection of severe fetal anemia. Two intrauterine red blood cell transfusions (IUTs) were performed, raising the fetal hemoglobin from 6.6 to 14.5\u2009g\/dl at 28\u2009weeks' gestation and from 8.9 to 15.3\u2009g\/dl at 31\u2009weeks. A hematopoietic stem cell allograft was discussed prenatally but not chosen, as it would not have significantly changed the perinatal prognosis. The patient delivered a 2730\u2009g girl at 37\u2009weeks, with hemoglobin of 13.6\u2009g\/dl. The child presented with neonatal jaundice treated with phototherapy and received postnatal transfusions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>When a proband is identified in a family, fetal investigation is warranted, to set up third\u2010trimester ultrasound surveillance and perinatal management. In case of fetal severe anemia of unknown etiology, the workup on fetal blood sampling before IUT should comprise the search for erythrocytes enzymopathies, such as PK deficiency. IUTs allow safer full\u2010term delivery in cases with PK deficiency.<\/jats:p><\/jats:sec>","DOI":"10.1111\/trf.17177","type":"journal-article","created":{"date-parts":[[2022,11,9]],"date-time":"2022-11-09T06:29:12Z","timestamp":1667975352000},"page":"257-262","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Prenatal management of fetal anemia due to pyruvate kinase deficiency: A case report"],"prefix":"10.1111","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5765-4468","authenticated-orcid":false,"given":"Emeline","family":"Maisonneuve","sequence":"first","affiliation":[{"name":"Institute for Primary Health Care (BIHAM)  Bern Switzerland"},{"name":"Department Woman\u2010Mother\u2010Child CHUV  Lausanne Switzerland"},{"name":"Department of Fetal Medicine Armand Trousseau Hospital  Paris France"},{"name":"National Reference Center for Perinatal Hemobiology (CNRHP) Clinic Unit, Armand Trousseau Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5724-9729","authenticated-orcid":false,"given":"Marl\u00e8ne","family":"Sohier Lepine","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine Armand Trousseau Hospital  Paris France"},{"name":"Department of Obstetrics and Gynecology Paule de Viguier Hospital  Toulouse France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Maurice","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine Armand Trousseau Hospital  Paris France"},{"name":"National Reference Center for Perinatal Hemobiology (CNRHP) Clinic Unit, Armand Trousseau Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serge","family":"Pissard","sequence":"additional","affiliation":[{"name":"Department of Genetics APHP, GHU Henri Mondor Hospital, and IMRB\u2010InsermU955 eq2  Cr\u00e9teil France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bertrand","family":"Lafon","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine Armand Trousseau Hospital  Paris France"},{"name":"National Reference Center for Perinatal Hemobiology (CNRHP) Clinic Unit, Armand Trousseau Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agn\u00e8s","family":"Mailloux","sequence":"additional","affiliation":[{"name":"Centre National de R\u00e9f\u00e9rence en H\u00e9mobiologie P\u00e9rinatale (CNRHP), Biologic Unit Armand Trousseau Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferdinand","family":"Dhombres","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine Armand Trousseau Hospital  Paris France"},{"name":"National Reference Center for Perinatal Hemobiology (CNRHP) Clinic Unit, Armand Trousseau Hospital  Paris 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