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Confined placental mosaicism and intrauterine fetal development

✍ Scribed by D.K. Kalousek

Book ID: 116092060
Publisher: Elsevier Science
Year: 1994
Tongue: English
Weight: 993 KB
Volume: 15
Category: Article
ISSN: 0143-4004
DOI: 10.1016/0143-4004(94)90014-0

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In a pregnancy that was monitored due to increased risk for Down syndrome in the triple test, a normal karyotype was found in amniocentesis. Follow-up by serial ultrasound examinations revealed intrauterine growth retardation (IUGR) at 20 weeks of gestation. The parents decided to terminate the preg

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Trisomy 16 is frequently found confined to the placenta (confined placental mosaicism (CPM)), with a structurally normal fetus. In some cases of trisomy 16, the fetus has uniparental disomy for chromosome 16 (UPD16) which is associated with intrauterine growth restriction (IUGR) and fetal anomalies.