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Sonographically detected fetal and placental abnormalities associated with trisomy 16 confined to the placenta. A case report and review of the literature
Author(s) -
Astner A.,
Schwinger E.,
Caliebe A.,
Jonat W.,
Gembruch U.
Publication year - 1998
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/(sici)1097-0223(199812)18:12<1308::aid-pd443>3.0.co;2-h
Subject(s) - trisomy , chorionic villi , chorionic villus sampling , amniocentesis , placenta , fetus , umbilical cord , aneuploidy , amniotic fluid , karyotype , gestation , polyhydramnios , prenatal diagnosis , obstetrics , biology , single umbilical artery , andrology , pregnancy , medicine , chromosome , anatomy , genetics , gene
Trisomy 16 is the most frequent autosomal anomaly seen in earlyspontaneous abortions, accounting for 15 per cent of all chromosomallyabnormal early spontaneous abortions. This trisomy is thought to belethal in the non‐mosaic state and incompatible with full fetaldevelopment. We report a case of placental trisomy 16 mosaicismdetected after chorionic villus sampling (CVS). The patient wasreferred at 18 weeks of gestation on account of moderate intra‐uterinegrowth restriction (IUGR). Detailed sonography showed a thickened andenlarged placenta with multiple ‘cysts’, polyhydramnios, a singleumbilical artery and a small ventricular septal defect (VSD). CVS,amniocentesis (AC) and fetal blood sampling (FBS) were performed. Afterdirect preparation of chorionic villi only47, XX,+16 cells were seen. However,chromosomal analysis of cultivated amniotic fluid cells and fetallymphocytes only showed a normal karyotype 46, XX. After directpreparation of a second CVS at 19+4weeks of gestation the karyotype47, XX+16 was confirmed in thecontralateral part of the placenta and near the insertion of theumbilical cord. A normal female karyotype 46, XX was demonstrated byextensive karyotyping of various sites of the placenta, the neonatalskin fibroblasts and lymphocytes postnatally. In accordance with thisobservation the multiple ‘cysts’ of the placenta disappeared in thethird trimester. We speculate that the sonographic findings of multipleround placental ‘cysts’ without a hyperreflective border may be causedby the trisomic cell lineages and therefore may be a sonographic markerof trisomy 16. Copyright © 1998 John Wiley & Sons, Ltd.