A Case of Trisomy 9 Complicated With Congenital Diaphragmatic Hernia

Abstract

We experienced a case with fetal trisomy 9, which was confirmed by genetic amniocentesis at the 28th week of gestation. A pregnancy woman of the 24th week of gestation with congenital diaphragmatic hernia (CDH) and intrauterine growth restriction (IUGR) was referred to our hospital. Magnetic resonance imaging (MRI) scans further depicted the detailed anatomical configurations of congenital diaphragmatic hernia, hydrops fetalis, agenesis of corps callosum, and cerebellar hypoplasia. Genetic amniocentesis revealed trisomy 9, a karyotype of 47, XY, +9 in the cultured amniocytes. At the 32nd week of gestation, intrauterine fetal death was confirmed and a stillborn male infant was delivered with a body weight of 875 g and a length of 39 cm after induction of labor. Macroscopic findings included small palpebral fissures, hypertelorism, micrognathia, low-set ears, hypoplastic phalanges, cryptorchidism, hypoplastic scrotum, micropenis, and rocker-bottom feet.




J Med Cases. 2013;4(4):215-217
doi: https://doi.org/10.4021/jmc1003w