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Neural tube defects in chromosomally normal and abnormal human embryos
Author(s) -
Coerdt W.,
Miller K.,
Holzgreve W.,
Rauskolb R.,
Schwinger E.,
Rehder H.
Publication year - 1997
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.1997.10060410.x
Subject(s) - neural tube , encephalocele , spina bifida , trisomy , medicine , neural tube defect , embryo , obstetrics , abortion , holoprosencephaly , prenatal diagnosis , anencephaly , chromosomal analysis , pathology , gynecology , anatomy , fetus , pregnancy , karyotype , chromosome , biology , genetics , surgery , gene
Neural tube defects (NTDs) were recognized in eight out of 91 intact embryos from spontaneous abortions and in one case of an induced abortion following prenatal diagnosis of a chromosomal disorder. Five of the nine cases showed chromosomal abnormalities. Trisomy 18 and triploidy were associated with spina bifida in three cases, trisomy 7 with parieto‐occipital encephalocele and monosomy X with spina bifida and iniencephaly in one case. A sixth anencephalic embryo in which chromosomal analysis was not performed showed a malformation pattern highly suggestive for trisomy 18. Discussion focuses on the high rate and the type of chromosomal abnormalities among spontaneously aborted NTD embryos, on the contrasting phenotype of 45,X conceptions and on the morphogenesis of the different neural tube defects in early development. In view of future early endovaginal ultrasound diagnosis, the changing morphological pattern is exemplified, and ranges from apparently hyperplastic to degenerative alterations of the exposed neural tissue. Copyright © 1997 International Society of Ultrasound in Obstetrics and Gynecology