Meckel-Gruber综合征的诊断与研究

Diagnosis and research of Meckel-Gruber syndrome

Meckel—Gruber综合征是一种罕见的致死性疾病，全球范围内新生儿发病率为1／140000～1／13250，随着超声与分子诊断等技术的发展，尤其是第三代试管婴儿技术（胚胎植入前诊断技术）的出现使解决疾病基因携带者的生育问题出现了曙光。本文介绍了Meckel．Gruber综合征的诊断标准，可能的发病机制及与其他疾病的鉴别诊断，希望通过本病的介绍，提高临床对罕见病的认识与重视，提高诊断能力，为受累家庭夫妻再生育提供优生咨询与临床指导。

Meckel-Gruber syndrome is a rare, fatal disease. The rate of natal morbidity worldwide is from 1/140 000 to 1/13 250. With the development of ultrasound and molecular diagnosis technology, especially the emergence of the third generation of in vitro fertilization （IVF） and prenatal genetic diagnosis （PGD） , it is possible for the genetic carriers to solve the fertility problems. In this review, the recent insight of Meekel-Gruber syndrome diagnostic criteria, possible pathogenesis and differential diagnosis of other diseases were discussed. Through the introduction of the disease, it is hoped to improve clinical understanding of the disease and remind the clinicians pay more attention to rare genetic disorders. It is helpful to improve the ability of the clinical diagnosis of the disease and other rare genetic disorders, and provide eugenic counseling and clinical guidance to the affected families.