Prenatal diagnosis of the Meckel syndrome

• Published in: Clinical genetics Vol. 15; no. 1; p. 1
• Main Authors: Nevin, N C, Thompson, W, Davison, G, Horner, W T
• Format: Journal Article
• Language: English
• Published: Denmark 01-01-1979
• Subjects: Abnormalities, Multiple - diagnosis; Abortion, Induced; Adult; alpha-Fetoproteins - analysis; Amniocentesis; Amniotic Fluid - analysis; Amniotic Fluid - cytology; Cells, Cultured; Encephalocele - diagnosis; Female; Fingers - abnormalities; Gestational Age; Humans; Male; Polycystic Kidney Diseases - diagnosis; Pregnancy; Prenatal Diagnosis; Syndrome; Ultrasonography
• ISSN: 0009-9163
• DOI: 10.1111/j.1399-0004.1979.tb02021.x

Prenatal diagnosis of the Meckel syndrome was made at 20 weeks of gestation from the findings of a biparietal diameter smaller than expected for gestational age, a grossly raised amniotic fluid alphafetoprotein level and a rapid growth of foetal macrophages after 20 hours culture. Termination at 23 weeks of gestation resulted in a male foetus with an occipital encephalocele, microcephaly, polydactyly, and bilateral polycystic kidneys. This case report emphasies the importance for genetic counselling of delineating the Meckel syndrome from the multifactorial cases of neural tube defects, and also illustrates, at least in some cases, that the syndrome can be diagnosed in utero.