Diagnostic distinction between anencephaly and amnion rupture sequence based on skeletal analysis.
- 1 November 1994
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 31 (11) , 823-829
- https://doi.org/10.1136/jmg.31.11.823
Abstract
The axial skeletal development of eight second trimester aborted fetuses, clinically diagnosed as amnion rupture sequence with cranial involvement, was examined radiographically and histologically. Three of the eight fetuses showed axial skeletal malformation in the spine and the craniofacial skeleton corresponding to the malformations seen in anencephaly. These are vertebral body malformations, consisting of double corpora and of osseous malformations in the components of the cranial base, the corpus of the occipital bone, and the postsphenoid bone. These types of malformation, which have previously been described, are located along the original course of the notochord. The findings show that it is possible by means of radiography of the axial skeleton to distinguish between anencephalic fetuses which become secondarily involved in amnion rupture and fetuses which were initially normally developed. The method supplements detailed fetal examination and provides important information for genetic counselling.Keywords
This publication has 28 references indexed in Scilit:
- Amniotic band sequence: Streeter's hypothesis reexaminedAmerican Journal of Medical Genetics, 1992
- Constrictive amniotic bands, amniotic adhesions, and limb‐body wall complex: Discrete disruption sequences with pathogenetic overlapAmerican Journal of Medical Genetics, 1992
- Fetal haemorrhagic lesions after chorionic villous samplingThe Lancet, 1992
- ADAM sequence and innocent amniotic band: Manifestations of early amnion ruptureAmerican Journal of Medical Genetics, 1990
- Simple Autopsy Method for Analysis of Complex Fetal Cranial MalformationsPediatric Pathology, 1990
- Prenatal diagnosis of anencephaly: spectrum of sonographic appearances and distinction from the amniotic band syndromeAmerican Journal of Roentgenology, 1988
- Limb body wall complex: I. PathogenesisAmerican Journal of Medical Genetics, 1987
- Amniotic band syndrome causing fetal head deformityPrenatal Diagnosis, 1984
- The amniotic band disruption complex: Timing of amniotic rupture and variable spectra of consequent defectsPublished by Elsevier ,1979
- Skeletal maturation of the human fetus assessed radiographically on the basis of ossification sequences in the hand and footAmerican Journal of Physical Anthropology, 1974