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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation.

OBJECTIVE: Our purpose was to examine the feasibility of diagnosing the Meckel-Gruber syndrome at 11 to 14 weeks' gestation, both in high-risk pregnancies and during routine ultrasonographic screening for fetal chromosomal abnormalities. STUDY DESIGN: The high-risk population consisted of 9 pregnancies in 7 women with previous pregnancies affected by the Meckel-Gruber syndrome. At 11 to 14 weeks' gestation, systematic ultrasonographic examinations of the fetal skull, brain, kidneys, bladder, hands, and feet were undertaken in each case. The low-risk population consisted of 21,477 self-referred pregnancies undergoing first-trimester ultrasonographic screening for chromosomal defects at 11 to 14 weeks' gestation. RESULTS: The triad of fetal occipital encephalocele, bilateral polycystic kidneys, and postaxial polydactyly was detected by transabdominal ultrasonography and confirmed by transvaginal scanning in 4 of the 9 pregnancies in the high-risk group. The parents were counseled of the likely recurrence of the Meckel-Gruber syndrome, and all elected to terminate the pregnancy by transcervical evacuation at 12 to 13 weeks. In the low-risk population the only case of Meckel-Gruber syndrome was identified at 13 weeks; in the remaining screened pregnancies there were no other cases of termination of pregnancy or neonatal death with the diagnosis of Meckel-Gruber syndrome. CONCLUSION: This report demonstrates that the Meckel-Gruber syndrome can be confidently detected at the 11- to 14-week scan in both high- and low-risk populations.[1]


  1. Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation. Sepulveda, W., Sebire, N.J., Souka, A., Snijders, R.J., Nicolaides, K.H. Am. J. Obstet. Gynecol. (1997) [Pubmed]
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