title: Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry.
abstract: OBJECTIVE
  To present prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) in a pregnancy associated with abnormal maternal serum biochemistry.
  
  
  METHODS
  A 19-year-old woman underwent amniocentesis in the second trimester because of abnormal maternal serum biochemistry. Her husband was 33 years old. At 16 weeks of gestation, the levels of α-fetoprotein, unconjugated estriol, total β-human chorionic gonadotropin, and inhibin A were 0.8 multiples of median (MoM), 0.84 MoM, 3.06 MoM, and 1.14 MoM, respectively, consistent with a positive trisomy 21 risk of 1/269. Results of an amniocentesis revealed a small de novo interstitial duplication of 14q encompassing 14q31-q32.1. An array comparative genomic hybridization analysis detected a 6.6-Mb duplication at chromosome 14q31.3-q32.12. Results of a fluorescence in situ hybridization analysis showed a direct duplication of interstitial 14q. The karyotype was 46,XY,dup(14) (q31.3q32.12). Level II ultrasound was unremarkable. The parents decided to continue the pregnancy. A 3805-g healthy male baby was delivered at 39 weeks of gestation. When examined at 6 months of age, the neonate was normal in growth and psychomotor development with no apparent phenotypic abnormalities, although long-term follow-ups are required.
  
  
  CONCLUSIONS
  Abnormal maternal serum biochemistry in the second trimester may be a distinctive prenatal feature in pregnancy associated with fetal chromosome 14q duplication.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Kwui-Shuai
authors.initials: KS
authors.lastname: Hwang
authors.forename: Her-Young
authors.initials: HY
authors.lastname: Su
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Su
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.forename: Jun-Wei
authors.initials: JW
authors.lastname: Su
authors.forename: Yu-Ting
authors.initials: YT
authors.lastname: Chen
authors.forename: Wen-Lin
authors.initials: WL
authors.lastname: Chen
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D000649:Amniocentesis; D058674:Chromosome Duplication; D002883:Chromosomes, Human, Pair 14; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D062145:Maternal Serum Screening Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal; D055815:Young Adult