Verma Rita P
Department of Pediatrics, Division of Neonatology, Nassau University Medical Center, East Meadow, NY 11554, USA.
Children (Basel). 2021 Sep 28;8(10):862. doi: 10.3390/children8100862.
Congenital anomalies (CA) are a large heterogeneous group of disorders of abnormal morphogenesis or biochemistry which present at birth and carry widely variable implications for morbidity and mortality. They are the leading cause of infant mortality in the USA, with an incidence of 3-4% of all births. CA are the fourth leading cause of neonatal mortality worldwide, with an estimated 295,000 deaths annually. The enormous variability in the clinical presentation in terms of severity, time of occurrence, course, complications, management, and outcomes makes the evaluation of CA complicated, highly specific, and individualized. The anomalies can impart tremendous physical, social, and emotional distress on the patient with massive emotional, social, financial, and medical implications for the family and society. The diagnosis may remain elusive despite rigorous, elaborate, and extensive investigations in many cases. While the enormous strides in genetic testing and gene modification therapy have an encouraging impact on the diagnosis and treatment, the risk assessment of recurrence in the family and population of CA remains obscure in most cases due to the lack of information and referable evidence.
先天性异常（CA）是一大类形态发生或生物化学异常的疾病，在出生时即出现，对发病率和死亡率的影响差异很大。它们是美国婴儿死亡的主要原因，在所有出生婴儿中的发病率为3%-4%。CA是全球新生儿死亡的第四大主要原因，估计每年有29.5万人死亡。CA在严重程度、发生时间、病程、并发症、治疗和结局等临床表现方面存在巨大差异，这使得对CA的评估变得复杂、高度特异且个体化。这些异常会给患者带来巨大的身体、社会和情感痛苦，对家庭和社会造成巨大的情感、社会、经济和医疗影响。在许多情况下，尽管进行了严格、细致和广泛的调查，诊断仍可能难以明确。虽然基因检测和基因改造疗法取得的巨大进展对诊断和治疗产生了令人鼓舞的影响，但由于缺乏信息和可参考的证据，在大多数情况下，CA在家庭和人群中的复发风险评估仍不明确。
