Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Mol Genet Genomic Med. 2024 Jul;12(7):e2491. doi: 10.1002/mgg3.2491.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder that predisposes individuals to hemolysis due to an inborn error of metabolism. We performed a systematic literature review to evaluate G6PD deficiency as a possible etiology of nonimmune hydrops fetalis (NIHF) and severe fetal anemia.
PubMed, OVID Medline, Scopus, and clinicaltrials.gov were queried from inception until 31 April 2023 for all published cases of NIHF and severe fetal anemia caused by G6PD deficiency. Keywords included "fetal edema," "hydrops fetalis," "glucose 6 phosphate dehydrogenase deficiency," and "fetal anemia." Cases with workup presuming G6PD deficiency as an etiology for NIHF and severe fetal anemia were included. PRISMA guidelines were followed.
Five cases of G6PD-related NIHF and one case of severe fetal anemia were identified. Four fetuses (4/6, 66.7%) were male and two fetuses (2/6, 33.3%) were female. Mean gestational age at diagnosis of NIHF/anemia and delivery was 32.2 ± 4.9 and 35.7 ± 2.4 weeks, respectively. Four cases (66.7%) required a cordocentesis for fetal transfusion, and two cases (33.3%) received blood transfusions immediately following delivery. Among the four multigravida cases, two (50%) noted previous pregnancies complicated by neonatal anemia. When reported, the maternal cases included two G6PD deficiency carrier patients and two G6PD-deficient patients. Exposures to substances known to cause G6PD deficiency-related hemolysis occurred in 3/6 (50%) cases.
Six cases of NIHF/severe fetal anemia were associated with G6PD deficiency. While G6PD deficiency is an X-linked recessive condition, female fetuses can be affected. Fetal G6PD deficiency testing can be considered if parental history indicates, particularly if the standard workup for NIHF is negative.
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是一种 X 连锁隐性遗传疾病，由于代谢先天缺陷，个体易发生溶血性贫血。我们进行了系统的文献回顾，以评估 G6PD 缺乏症作为非免疫性胎儿水肿（NIHF）和严重胎儿贫血的可能病因。
从建库到 2023 年 4 月 31 日，我们在 PubMed、OVID Medline、Scopus 和 clinicaltrials.gov 上检索了所有已发表的由 G6PD 缺乏症引起的 NIHF 和严重胎儿贫血病例。关键词包括“胎儿水肿”、“胎儿水肿”、“葡萄糖 6 磷酸脱氢酶缺乏症”和“胎儿贫血”。纳入了经检查推测 G6PD 缺乏症为 NIHF 和严重胎儿贫血病因的病例。遵循 PRISMA 指南。
共发现 5 例 G6PD 相关性 NIHF 和 1 例严重胎儿贫血。4 例胎儿（4/6，66.7%）为男性，2 例胎儿（2/6，33.3%）为女性。NIHF/贫血的诊断和分娩时的平均孕龄分别为 32.2±4.9 周和 35.7±2.4 周。4 例（66.7%）需要脐带穿刺胎儿输血，2 例（33.3%）在分娩后立即输血。在 4 例多胎妊娠中，有 2 例（50%）既往妊娠合并新生儿贫血。当报告时，母体病例包括 2 例 G6PD 缺乏症携带者和 2 例 G6PD 缺乏症患者。已知可引起 G6PD 缺乏症相关溶血性贫血的物质暴露发生在 3/6（50%）例中。
6 例 NIHF/严重胎儿贫血与 G6PD 缺乏症有关。虽然 G6PD 缺乏症是一种 X 连锁隐性疾病，但女性胎儿也可能受到影响。如果父母的病史表明存在这种情况，特别是如果 NIHF 的标准检查结果为阴性，则可以考虑进行胎儿 G6PD 缺乏症检测。
