Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: Molecular cytogenetic analysis and review of the literature

Full monosomy 21 is an extremely rare chromosomal disorder. A 38‐year‐old woman attended a first trimester scan. Ultrasound (U/S) imaging of the fetus at 12 weeks of gestation showed features of increased nuchal translucency measurement (12 mm). Chorionic villi sampling (CVS) was performed after gen...

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Published in:The journal of obstetrics and gynaecology research 2010-04, Vol.36 (2), p.435-440
Main Authors: Manolakos, Emmanouil, Peitsidis, Panagiotis, Eleftheriades, Makarios, Dedoulis, Evaggelos, Ziegler, Monika, Orru, Sandro, Liehr, Thomas, Petersen, Michael B.
Format: Article
Language:English
Subjects:
Abortion, Therapeutic
Adult
Chromosomes, Human, Pair 21 - genetics
Cytogenetic Analysis
Female
full monosomy 21
Humans
In Situ Hybridization, Fluorescence
Karyotyping
mechanism of origin
Monosomy - diagnosis
nuchal translucency
Nuchal Translucency Measurement
Pregnancy
Prenatal Diagnosis
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Summary:Full monosomy 21 is an extremely rare chromosomal disorder. A 38‐year‐old woman attended a first trimester scan. Ultrasound (U/S) imaging of the fetus at 12 weeks of gestation showed features of increased nuchal translucency measurement (12 mm). Chorionic villi sampling (CVS) was performed after genetic counseling. At 16 weeks of gestation the fetus showed U/S characteristics of severe intrauterine growth restriction, generalized edema and hydrothorax. Cytogenetic examination was performed using quantitative fluorescent polymerase chain reaction analysis, standard Giesma banding and fluorescent in situ hybridization analysis. Non‐mosaic full monosomy 21 was detected and the parents opted to terminate the pregnancy. Microsatellite analysis demonstrated maternal origin of the single chromosome. This case represents one of the few cases of prenatally diagnosed full monosomy 21 confirmed only by CVS, in which the parental origin of the single chromosome was determined.
ISSN:1341-8076
1447-0756
DOI:10.1111/j.1447-0756.2009.01140.x