The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry.

Autor:	Schwab ME; Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, CA.; Department of Surgery, University of California, San Francisco, CA.; Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA., Lianoglou BR; Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, CA.; Department of Surgery, University of California, San Francisco, CA.; Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA., Gano D; Department of Neurology, University of California, San Francisco, CA., Gonzalez Velez J; Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, CA.; Department of Obstetrics and Gynecology, University of California, San Francisco, CA., Allen IE; Department of Epidemiology and Biostatistics, University of California, San Francisco, CA., Arvon R; Department of Obstetrics and Gynecology, California Pacific Medical Center, San Francisco, CA., Baschat A; Department of Obstetrics and Gynecology, Johns Hopkins University, Baltimore, MD., Bianchi DW; National Institute for Child Health and Disease, National Institutes of Health, Bethesda, MD., Bitanga M; The Fetal Diagnostic Institute of the Pacific, Honolulu, HI., Bourguignon A; Department of Clinical Genetics, Kaiser Permanente Oakland, Oakland, CA., Brown RN; Department of Obstetrics and Gynecology, McGill University Health Centre, Montreal, Canada., Chen B; The Fetal Diagnostic Institute of the Pacific, Honolulu, HI., Chien M; Stanford School of Medicine, Palo Alto, CA., Davis-Nelson S; Department of Obstetrics, Loma Linda University, Loma Linda, CA., de Laat MWM; Department of Obstetrics and Gynecology, Auckland City Hospital, Auckland, New Zealand., Ekwattanakit S; Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Gollin Y; Department of Obstetrics, Loma Linda University, Loma Linda, CA., Hirata G; The Fetal Diagnostic Institute of the Pacific, Honolulu, HI., Jelin A; Department of Obstetrics and Gynecology, Johns Hopkins University, Baltimore, MD., Jolley J; Department of Obstetrics and Gynecology, University of California, Irvine, Orange, CA., Meyer P; Department of Obstetrics and Gynecology, Kaiser Permanente Santa Clara, Santa Clara, CA., Miller J; Department of Obstetrics and Gynecology, Johns Hopkins University, Baltimore, MD., Norton ME; Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, CA.; Department of Obstetrics and Gynecology, University of California, San Francisco, CA., Ogasawara KK; Kaiser Permanente Moanalua Medical Center, Honolulu, HI., Panchalee T; Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Schindewolf E; Department of Medical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Shaw SW; Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Taipei, Taiwan., Stumbaugh T; The Fetal Diagnostic Institute of the Pacific, Honolulu, HI., Thompson AA; Feinberg School of Medicine, Northwestern University, Chicago, IL., Towner D; Department of Obstetrics, Gynecology, and Women's Health, University of Hawaii, John A. Burns School of Medicine, Honolulu, HI., Tsai PS; Department of Obstetrics, Gynecology, and Women's Health, University of Hawaii, John A. Burns School of Medicine, Honolulu, HI., Viprakasit V; Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Volanakis E; Vanderbilt University Medical Center, Nashville, TN., Zhang L; Department of Epidemiology and Biostatistics, University of California, San Francisco, CA.; Department of Medicine, University of California, San Francisco, CA., Vichinsky E; Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, CA.; Department of Pediatrics and Benioff Children's Hospital, UCSF, San Francisco, CA., MacKenzie TC; Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, CA.; Department of Surgery, University of California, San Francisco, CA.; Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA.
Jazyk:	angličtina
Zdroj:	Blood advances [Blood Adv] 2023 Jan 24; Vol. 7 (2), pp. 269-279.
DOI:	10.1182/bloodadvances.2022007823
Abstrakt:	Alpha thalassemia major (ATM) is a hemoglobinopathy that usually results in perinatal demise if in utero transfusions (IUTs) are not performed. We established an international registry (NCT04872179) to evaluate the impact of IUTs on survival to discharge (primary outcome) as well as perinatal and neurodevelopmental secondary outcomes. Forty-nine patients were diagnosed prenatally, 11 were diagnosed postnatally, and all 11 spontaneous survivor genotypes had preserved embryonic zeta-globin levels. We compared 3 groups of patients; group 1, prenatally diagnosed and alive at hospital discharge (n = 14), group 2, prenatally diagnosed and deceased perinatally (n = 5), and group 3, postnatally diagnosed and alive at hospital discharge (n = 11). Group 1 had better outcomes than groups 2 and 3 in terms of the resolution of hydrops, delivery closer to term, shorter hospitalizations, and more frequent average or greater neurodevelopmental outcomes. Earlier IUT initiation was correlated with higher neurodevelopmental (Vineland-3) scores (r = -0.72, P = .02). Preterm delivery after IUT was seen in 3/16 (19%) patients who continued their pregnancy. When we combined our data with those from 2 published series, patients who received ≥2 IUTs had better outcomes than those with 0 to 1 IUT, including resolution of hydrops, delivery at ≥34 weeks gestation, and 5-minute appearance, pulse, grimace, activity, and respiration scores ≥7. Neurodevelopmental assessments were normal in 17/18 of the ≥2 IUT vs 5/13 of the 0 to 1 IUT group (OR 2.74; P = .01). Thus, fetal transfusions enable the survival of patients with ATM and normal neurodevelopment, even in those patients presenting with hydrops. Nondirective prenatal counseling for expectant parents should include the option of IUTs. (Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0), permitting only noncommercial, nonderivative use with attribution. All other rights reserved.)
Databáze:	MEDLINE
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