Department of Pediatric Oncology, Hematology and Transplantology, Poznan University of Medical Sciences, Szpitalna Street 27/33, 60-572 Poznań, Poland.
Department of Pediatric Surgery, Traumatology and Urology, Poznan University of Medical Sciences, Szpitalna Street 27/33, 60-572 Poznań, Poland.
Int J Environ Res Public Health. 2022 Aug 8;19(15):9774. doi: 10.3390/ijerph19159774.
Down syndrome (DS) is a common genetic disorder and is associated with an increased likelihood of many diseases, including defects of the heart, genitourinary system, gastrointestinal tract, and oncological diseases. The aim of this study was to analyze medical problems occurring in newborns with DS and to create a basic diagnostic and therapeutic algorithm intended primarily for neonatologists, pediatricians, family physicians, and physicians of other specialties caring for children with DS. Over a 5-year period, the medical records of 161 neonates with Down syndrome from four neonatology departments in Poznan, Poland, were examined. After applying exclusion criteria, 111 patients were analyzed. Data obtained from medical history included sex, week of gestation, birth weight, APGAR score, clinical symptoms, peripheral blood count with smear, and clinical features such as jaundice, hemorrhagic diathesis, ascites, hepato- or splenomegaly, pericardial or pleural effusion, respiratory failure, and other rare transient signs of abnormal myelopoiesis: fetal edema, hepatic fibrosis, renal failure, and rush. In the study group, 8% of children with Down syndrome were diagnosed with a heart and 1.8% with a genitourinary defect. Transient abnormal myelopoiesis syndrome (Transient abnormal myelopoiesis (TAM)) was found in 10% of newborns with DS. A blood count with blood smear, cardiology consultation with echocardiography, and an abdominal ultrasound should be performed in the first few days after birth in all newborns with Down syndrome. If this is not possible and the child's condition is stable, these tests can be performed within 2-3 months after birth.
唐氏综合征（DS）是一种常见的遗传疾病，与许多疾病的发生风险增加有关，包括心脏、泌尿生殖系统、胃肠道和肿瘤疾病。本研究旨在分析唐氏综合征新生儿的医疗问题，并为新生儿科医生、儿科医生、家庭医生和其他照顾唐氏综合征儿童的专科医生创建一个基本的诊断和治疗方案。在 5 年的时间里，研究人员检查了波兰波兹南的四个新生儿科的 161 名唐氏综合征新生儿的医疗记录。经过排除标准后，对 111 名患者进行了分析。从病史中获得的数据包括性别、孕周、出生体重、阿普加评分、临床症状、外周血计数和涂片，以及黄疸、出血性素质、腹水、肝脾肿大、心包或胸腔积液、呼吸衰竭和其他罕见的短暂性异常髓系造血异常体征等临床特征：胎儿水肿、肝纤维化、肾衰竭和皮疹。在研究组中，8%的唐氏综合征患儿被诊断为心脏疾病，1.8%的患儿被诊断为泌尿生殖系统缺陷。10%的唐氏综合征新生儿被诊断为一过性髓系增生异常综合征（Transient abnormal myelopoiesis (TAM)）。所有唐氏综合征新生儿应在出生后几天内进行全血细胞计数和血涂片检查、心内科咨询和腹部超声检查。如果无法进行这些检查，且患儿病情稳定，可在出生后 2-3 个月内进行这些检查。
