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Am J Med Genet. 2002 Jan 1;107(1):52-7.

Neural tube defects in missed abortions: embryoscopic and cytogenetic findings.

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Ludwig Boltzmann Institute of Clinical Gynecology and Obstetrics, Danube Hospital, Vienna, Austria.


Transcervical embryoscopy, a new technique for direct visualization of the first trimester conceptus was carried out in 116 cases of missed abortion. Embryonic neural tube defects and other localized developmental defects, were diagnosed in 10 out of 99 cases in which a complete embryoscopic evaluation was possible. All eight successfully karyotyped cases had a numerical chromosomal abnormality. A ninth unkaryotyped embryo with open spina bifida showed, on embryoscopy, a malformation pattern highly suggestive of triploidy. Our embryoscopic and cytogenetic findings provide valuable information for genetic counseling in future pregnancies.

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