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Morphology of the 45,X embryo: an embryoscopic study
Tom Philipp1, Dagmar K Kalousek
1Ludwig Boltzmann Institute of Clinical Gynecology and Obstetrics, Danube Hospital, Vienna, Austria. thomas.philipp@smz.magwien.gv.at
American Journal of Medical Genetics. Part A
|July 3, 2003
Summary
Monosomy X (Turner syndrome) in embryos shows varied developmental defects. Transcervical embryoscopy aids in understanding these abnormalities and their genetic causes.
Area of Science:
- Embryology
- Human Genetics
- Developmental Biology
Background:
- Monosomy X (45,X) is a common aneuploidy in human conceptions.
- It is frequently associated with early embryonic demise and congenital anomalies.
- The spectrum of developmental abnormalities in monosomy X embryos is not fully characterized.
Purpose of the Study:
- To document the embryonic morphology in cases of monosomy X using transcervical embryoscopy.
- To identify external developmental defects associated with monosomy X.
- To explore the utility of embryoscopy in future genetic studies of aneuploidy.
Main Methods:
- Transcervical embryoscopy was performed prior to evacuation in 24 cases of missed abortion with diagnosed monosomy X.
- Embryos ranged from 13 mm to 26 mm in crown-rump length (CRL), corresponding to developmental stages beyond six weeks.
- Phenotypic assessment focused on external morphology and documented specific developmental defects.
Main Results:
- Embryonic phenotypes ranged from near-normal to severely abnormal.
- Observed defects included microcephaly, facial dysplasia, and retarded limb development.
- One case presented with encephalocele.
Conclusions:
- Monosomy X can lead to a wide spectrum of external developmental defects in human embryos.
- The underlying factors contributing to this variability are unknown.
- Transcervical embryoscopy is a valuable tool for investigating the developmental effects of aneuploidy and guiding further genetic research.