Belay Eyob Asefa, Asebot Anberbir Girma, Dabi Bezza Kedida
Department of Obstetrics and Gynecology, Nekemte Compressive Specialized Hospital, Nekemte, Ethiopia.
Department of Obstetrics and Gynecology, Jimma University School of Medicine, Jimma, Ethiopia.
Case Rep Obstet Gynecol. 2024 Dec 31;2024:7801322. doi: 10.1155/crog/7801322. eCollection 2024.
Fetal limb anomaly presentation varies greatly. It can present as amelia (complete absence of skeletal part of one or more limb), meromelia (partial absence of skeletal part of one or more limb), phocomelia (only rudimentary limb formed), and minor limb disorders like polydactyly. The complete absence of the four fetal limbs is extremely rare. Incidence of tetra-amelia is not well known, but it is mentioned to be 1-4 in 100,000 births in different literature. Etiopathogenesis of fetal tetra-amelia remains speculative. Tetra-amelia occurs either as tetra-amelia syndrome (when other organ systems are affected too) or isolated tetra-amelia. Tetra-amelia syndrome is more common than isolated tetra-amelia. It occurs secondary to genetic aberration or is sporadic. Genetic inheritance of tetra-amelia may present as autosomal dominance, autosomal recessive, or X-linked recessive. The protein coded on WTN 3 on chromosome 17q21 is important for fetal limb and other organ system formation. Mutation associated with the WTN 3 gene is a known cause for fetal limb malformation. Maternal diabetes, amniotic band syndrome, TORCH (toxoplasmosis, rubella cytomegalovirus, herpes simplex, and HIV) infection, alcohol consumption, and intrauterine exposure to some drugs like thalidomide, glucocorticoids, and sedatives are risk factors for limb malformation. Tetra-amelia can be diagnosed as early as the first trimester of pregnancy. Ultrasound imaging is a gold standard investigation to detect tetra-amelia. Tetra-amelia syndrome is associated with high mortality and morbidity than isolated tetra-amelia. In this case report, we present an extremely rare case, isolated tetra-amelia, born to G3P2 (Gravida 3, Para 2) mother at 36 weeks of gestation. It was diagnosed late in pregnancy at 34 weeks. The fetal organs (kidney, lung, abdominal wall, heart, vertebrae, and brain) were evaluated with ultrasound and were found healthy. She gave birth by cesarean section at 36 weeks of gestation for other obstetric indication. Isolated tetra-amelia is an extremely rare case. Early antenatal ultrasound fetal evaluation should be promoted. Early detection of tetra-amelia helps to provide parental counselling and option of management timely. Parental counselling should involve how to care for the neonate with tetra-amelia. Community awareness creation is important to decrease social stigma against babies with tetra-amelia. In such rare cases, it is important to alert public health researchers for possible further epidemiological study.
胎儿肢体异常的表现差异很大。它可以表现为无肢畸形（一个或多个肢体的骨骼部分完全缺失）、短肢畸形（一个或多个肢体的骨骼部分部分缺失）、海豹肢畸形（仅形成残肢）以及多指（趾）畸形等轻微肢体疾病。胎儿四肢完全缺失极为罕见。四肢无肢畸形的发病率尚不清楚，但不同文献提到其在每10万例出生中的发病率为1至4例。胎儿四肢无肢畸形的病因发病机制仍属推测。四肢无肢畸形可表现为四肢无肢畸形综合征（当其他器官系统也受到影响时）或孤立性四肢无肢畸形。四肢无肢畸形综合征比孤立性四肢无肢畸形更常见。它继发于基因畸变或为散发性。四肢无肢畸形的遗传方式可能为常染色体显性遗传、常染色体隐性遗传或X连锁隐性遗传。位于17q21染色体上的WTN 3编码的蛋白质对胎儿肢体和其他器官系统的形成很重要。与WTN 3基因相关的突变是胎儿肢体畸形的已知原因。母亲糖尿病、羊膜带综合征、TORCH（弓形虫病、风疹、巨细胞病毒、单纯疱疹和HIV）感染、饮酒以及子宫内接触沙利度胺、糖皮质激素和镇静剂等某些药物是肢体畸形的危险因素。四肢无肢畸形早在妊娠早期即可诊断。超声成像检查是检测四肢无肢畸形的金标准。四肢无肢畸形综合征比孤立性四肢无肢畸形的死亡率和发病率更高。在本病例报告中，我们呈现了一例极为罕见的病例，一名妊娠36周的G3P2（孕3产2）母亲所生的孤立性四肢无肢畸形胎儿。该病例在妊娠34周时才被诊断出来。通过超声对胎儿器官（肾脏、肺、腹壁、心脏、脊椎和大脑）进行了评估，发现均健康。因其他产科指征，她在妊娠36周时行剖宫产分娩。孤立性四肢无肢畸形是极为罕见的病例。应提倡早期产前超声胎儿评估。四肢无肢畸形的早期检测有助于及时为父母提供咨询和管理选择。父母咨询应包括如何照顾患有四肢无肢畸形的新生儿。提高社区意识对于减少对患有四肢无肢畸形婴儿的社会歧视很重要。在这种罕见病例中，提醒公共卫生研究人员进行可能的进一步流行病学研究很重要。
