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Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms
Author(s) -
Moradkhani Kamran,
Puechberty Jacques,
Blanchet Patricia,
Coubes Christine,
Lallaoui Hakima,
Lewin Patricia,
Lefort Genevieve,
Sarda Pierre
Publication year - 2006
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1585
Subject(s) - uniparental disomy , trisomy , fetus , prenatal diagnosis , intrauterine growth restriction , gestation , medicine , obstetrics , chorionic villus sampling , karyotype , polyhydramnios , aneuploidy , biology , pregnancy , genetics , chromosome , gene
Objectives This study was undertaken to discuss the workup of trisomy 16 pregnancies. Study Design This case study reports the prenatal detection and postnatal confirmation of mosaic trisomy 16, associated with uniparental disomy (UPD) 16, in a 34‐year‐old woman who showed elevated maternal serum α‐fetoprotein and β‐HCG at a gestational age (GA) of 15.5 weeks. Results Amniotic fluid (AF) karyotyping at different GAs revealed various levels of trisomy 16 mosaicism (0 to level III). UPD studies at 21 weeks of gestation revealed maternal heterodisomy 16. Serial fetal ultrasonography showed fetal abnormalities: intrauterine growth restriction (IUGR), dilated digestive tract, and gallbladder agenesis. Postmortem examination confirmed the prenatal findings and revealed additional anomalies, such as hypoplastic cerebellum with abnormal gyration of the vermis. Conclusions Workup following prenatal detection of trisomy 16 mosaicism in chorionic villi must include AF karyotyping and serial ultrasound examination of the fetus in order to approach postnatal developmental prognosis. Copyright © 2006 John Wiley & Sons, Ltd.