Clinical and experimental obstetrics & gynecology · 2012
The challenging trisomy 16: a case report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Kontomanolis E N, Lambropoulou M, Georgiadis A, Gramatikopoulou I, Deftereou T H, Galazios G
Аннотация
BACKGROUND: Trisomy 16 is a very frequent autosomal anomaly accounting for about 2% of first trimester abortions. In most pregnancies the chromosomal genome found in the fetus is also present in the placenta. Confined placental mosaicism is frequently detected in the placental region along with a structurally normal fetus.
CASE: We present the case of a 39-year-old primigravida with confined placental mosaicism diagnosed with chorionic villus sampling. Amniocentesis showed a normal karyotype (46, XX). Detailed scanning revealed no structural fetal anomalies, but severe oligohydramnios.
CONCLUSION: Diagnosis of trisomy 16 does not necessarily mean that the newborn has anatomical abnormalities.
CASE: We present the case of a 39-year-old primigravida with confined placental mosaicism diagnosed with chorionic villus sampling. Amniocentesis showed a normal karyotype (46, XX). Detailed scanning revealed no structural fetal anomalies, but severe oligohydramnios.
CONCLUSION: Diagnosis of trisomy 16 does not necessarily mean that the newborn has anatomical abnormalities.