Walasik Izabela, Litwińska-Korcz Ewelina, Szpotańska Monika, Stanirowski Paweł, Księżopolska Aleksandra, Ludwin Artur, Litwińska Magdalena
I Department of Obstetrics and Gynecology, Medical University of Warsaw, 02-091 Warsaw, Poland.
J Clin Med. 2024 Aug 6;13(16):4584. doi: 10.3390/jcm13164584.
: Congenital malignancies are unusual fetal conditions, and therefore, the data on their prenatal manifestation are limited. Transient abnormal myelopoiesis (TAM) is a hematologic disorder characteristic for babies with trisomy 21 and based on the transient appearance of blast cells in peripheral blood. : This paper presents prenatal manifestation of congenital TAM in a newborn with normal karyotype and reviews the literature on prenatal manifestation of this disorder. : A pregnant woman in her third pregnancy referred herself to the hospital for reduced fetal movements at 30 weeks of gestation. Admission's ultrasound scan showed an increased middle cerebral artery peak systolic velocity together with hepatomegaly. The patient was admitted to the labor ward for cardiotocography monitoring which showed acute fetal distress with repeated unprovoked decelerations. An emergency cesarean section was conducted and a phenotypically normal female newborn with low Apgar score was delivered. Further examination of the peripheral blood revealed anemia and leukocytosis with high blast proportion. A bone marrow aspirate revealed 70.2% of blasts in a sample with an abnormal karyotype of 47 XX+21. Cytogenetic analysis of the blasts with later microarray comparative genomic hybridization confirmed the presence of GATA1 mutation. However, the buccal smear showed a normal karyotype in the infant. The disease was classified as TAM. : Our study demonstrates a rare case of prenatal manifestation of TAM in a neonate with a normal karyotype. Obstetricians should pay attention to symptoms like high MCA PSV and hepatosplenomegaly as possible causes of fetal hematological disorders and differentiate it with infection or isoimmunization.
先天性恶性肿瘤是罕见的胎儿疾病，因此，关于其产前表现的数据有限。短暂异常髓系造血（TAM）是21三体综合征婴儿特有的血液系统疾病，其特征是外周血中出现原始细胞。本文介绍了一名核型正常的新生儿先天性TAM的产前表现，并综述了该疾病产前表现的相关文献。一名孕妇第三次怀孕，在妊娠30周时因胎动减少前来医院就诊。入院时的超声扫描显示大脑中动脉收缩期峰值流速增加，同时伴有肝肿大。患者被收入产房进行胎心监护，结果显示急性胎儿窘迫，伴有反复的自发性减速。随后进行了急诊剖宫产，分娩出一名表型正常但阿氏评分较低的女婴。对外周血的进一步检查发现贫血和白细胞增多，原始细胞比例较高。骨髓穿刺显示样本中70.2%为原始细胞，核型异常为47 XX+21。对原始细胞进行细胞遗传学分析，随后进行微阵列比较基因组杂交，证实存在GATA1突变。然而，婴儿的颊黏膜涂片显示核型正常。该疾病被归类为TAM。我们的研究展示了一例核型正常的新生儿TAM产前表现的罕见病例。产科医生应注意诸如大脑中动脉收缩期峰值流速升高和肝脾肿大等症状，将其作为胎儿血液系统疾病的可能原因，并与感染或血型不合免疫反应相鉴别。
