Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case report

Abstract

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. We report a case of apparent confined placental mosaicism for trisomy 16, using standard cytogenetic techniques, but with multiple fetal abnormalities including congenital diaphragmatic hernia in which there was no evidence of UPD in the disomic tissues examined. Subsequent examination of fetal tissues using fluorescent in situ hybridization (FISH) demonstrated low levels of mosaicism for trisomy 16 in all the tissues examined. The use of FISH permits identification of mosaicism which conventional techniques may not identify.

Diaphragmatic defects and limb deficiencies—Taking sides

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Genetic causes of congenital diaphragmatic hernia

“…Down syndrome is the most frequently occurring aneuploidy identified in children with a Morgagni hernia [22]. Other aneuploidies infrequently described with CDH include trisomy 9 [23], trisomy 16 [24], trisomy 22 [25], mosaic trisomy 2 [15], and mosaic trisomy 8 [7]. Sex aneuploidies including Turner syndrome (45,X) [10] and trisomy X (46,XXX) [6] have also rarely been described with CDH.…”

Prenatal diagnosis of partial trisomy 16p and its association with congenital diaphragmatic hernia

“…The molecular breakpoints were not provided. There is also a report of a fetus with a right‐sided diaphragmatic hernia and mosaic trisomy 16 . To our knowledge, our patient is only the second report of partial trisomy 16p and diaphragmatic hernia.…”

“…There is also a report of a fetus with a right-sided diaphragmatic hernia and mosaic trisomy 16. 4 To our knowledge, our patient is only the second report of partial trisomy 16p and diaphragmatic hernia. Wat et al recently reported two cases of syndromic CDH with a de novo 16p11.2 microdeletion detected by CMA.…”