Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature

Prenatal Diagnosis
Chih-Ping ChenChin-Yuan Tzen

Abstract

To present the prenatal diagnosis of complete trisomy 9 and to review the literature A 25-year-old primigravida woman was referred for amniocentesis at 19 weeks' gestation because of abnormal maternal screen results showing an elevated maternal serum alpha-fetoprotein (MSAFP) level and a low maternal serum free beta-human chorionic gonadotrophin (MSfreebeta-hCG) level. Genetic amniocentesis revealed a karyotype of 47,XX,+9 in the amniocytes and an elevated amniotic fluid AFP level. Ultrasonography demonstrated intrauterine growth restriction, left congenital diaphragmatic hernia, fetal ascites, a sacral spina bifida, a horseshoe kidney, and absence of amniotic fluid. Ultrafast magnetic resonance imaging scans further depicted detailed anatomical configurations of the major congenital malformations. The pregnancy was terminated subsequently. The proband postnatally manifested characteristic facial dysmorphism, limb deformities, and an open sacral spina bifida with myelomeningocele. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+9. Molecular studies of various uncultured fetal tissues using microsatellite markers confirmed a diagnosis of complete trisomy 9 resulting from a meiotic I nondisjunction err...Continue Reading

Citations

Dec 3, 2014·Seminars in Fetal & Neonatal Medicine·Julia WynnWendy K Chung
Feb 2, 2008·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Joan C FerreresNúria Torán
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Feb 1, 2008·Prenatal Diagnosis·Ana PóvoaSérgio Castedo
Sep 25, 2009·Prenatal Diagnosis·Marie-José PerezDavid Geneviève
Jun 11, 2015·American Journal of Medical Genetics. Part a·Zornitza StarkNeil Patel
Mar 30, 2017·Case Reports in Obstetrics and Gynecology·Yolanda Fernández-PereaSalud Borrego
Dec 25, 2008·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Wade D SchwendemannWilliam J Watson
Jun 8, 2017·Clinical Case Reports·Jana López-FélixDora Mayén-Molina
Jul 30, 2005·Seminars in Perinatology·Anne M Slavotinek
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Mar 25, 2008·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·J Sánchez ZahoneroM J López García

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