University of Michigan, Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Ann Arbor, Michigan,
University of Michigan, Department of Pediatrics, Division of Hematology and Oncology, Ann Arbor, Michigan, USA.
Fetal Diagn Ther. 2019;45(2):131-134. doi: 10.1159/000490103. Epub 2018 Jul 4.
Nonimmune hydrops remains a challenge in the prenatal setting with many cases not having a clear etiology determined prior to birth. We present an unusual case of one fetus of a dichorionic twin pair presenting at 24 weeks' gestation with hydrops and fetal pancytopenia with complete absence of white cells of unknown etiology, as revealed by cordocentesis. Serial red blood cell transfusions resulted in resolution of hydrops and continuation of the pregnancy until 35 weeks' gestation. Pancytopenia was noted throughout gestation and persisted in the newborn period. Moreover, the T-cell receptor excision circle (TREC) assay, a newborn screening test for severe T-cell deficiency, was abnormal at birth. Further evaluation revealed detectable TRECs and normal response to lymphocyte mitogens indicating some preserved thymic and lymphocyte function. The affected child had spontaneous resolution of the pancytopenia, including her severe T-cell deficiency, by 10 weeks of life. There has been no recurrence as of 24 months of age. The self-resolving nature of the pancytopenia is an important feature of this case of nonimmune hydrops. The abnormal TREC assay at birth in the affected infant may help explain the discordant prenatal findings.
非免疫性胎儿水肿仍是产前领域的一个挑战，许多病例在出生前无法确定明确的病因。我们报告了一例罕见病例，一对双绒毛膜双胞胎中的一个胎儿在 24 周妊娠时出现水肿和胎儿全血细胞减少，原因不明，通过脐带穿刺术发现白细胞完全缺失。连续进行红细胞输血后，水肿消退，妊娠继续至 35 周。整个孕期均出现全血细胞减少，并持续至新生儿期。此外，T 细胞受体切除环（TREC）检测是一种用于严重 T 细胞缺陷的新生儿筛查试验，在出生时异常。进一步评估显示存在可检测的 TRECs 和正常的淋巴细胞有丝分裂原反应，表明胸腺和淋巴细胞功能有一定程度的保留。受影响的孩子在 10 周龄时自发缓解了全血细胞减少症，包括严重的 T 细胞缺陷。截至 24 个月时，未再复发。该病例中非免疫性胎儿水肿的自限性是一个重要特征。受影响婴儿出生时异常的 TREC 检测可能有助于解释产前不一致的发现。
