Diagnosis and research of Meckel-Gruber syndrome / 中华检验医学杂志

ABSTRACT

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 Meckel-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.