The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry
| Autor: | Marisa E. Schwab, Billie R. Lianoglou, Dawn Gano, Juan Gonzalez Velez, Isabel E. Allen, Regina Arvon, Ahmet Baschat, Diana W. Bianchi, Melissa Bitanga, Anne Bourguignon, Richard N. Brown, Bruce Chen, May Chien, Shareece Davis-Nelson, Monique W. M. de Laat, Supachai Ekwattanakit, Yvonne Gollin, Greigh Hirata, Angie Jelin, Jennifer Jolley, Paul Meyer, Jena Miller, Mary E. Norton, Keith K. Ogasawara, Tachjaree Panchalee, Erica Schindewolf, Steven W. Shaw, Tammy Stumbaugh, Alexis A. Thompson, Dena Towner, Pai-Jong Stacy Tsai, Vip Viprakasit, Emmanuel Volanakis, Li Zhang, Elliott Vichinsky, Tippi C. MacKenzie |
|---|---|
| Rok vydání: | 2023 |
| Předmět: |
Pediatric
Pediatric Research Initiative Infant Gestational Age Reproductive health and childbirth Hematology Perinatal Period - Conditions Originating in Perinatal Period Newborn Brain Disorders Rare Diseases alpha-Thalassemia Pregnancy Clinical Research Humans Edema Blood Transfusion Female Intrauterine |
| Zdroj: | Blood advances, vol 7, iss 2 |
| ISSN: | 2473-9537 2473-9529 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|