Concomitant malformations and chromosomal abnormalities in prenatally diagnosed congenital diaphragmatic hernia

( views:, downloads: )
Author:
ZHENG Jü(Department of Sonography,the First Affiliated Hospital of Sun Yat-sen University,Guangzhou 510080,China)
XIE Hong-ning(Department of Sonography,the First Affiliated Hospital of Sun Yat-sen University,Guangzhou 510080,China)
LI Li-juan(Department of Sonography,the First Affiliated Hospital of Sun Yat-sen University,Guangzhou 510080,China)
LIN Mei-fang(Department of Sonography,the First Affiliated Hospital of Sun Yat-sen University,Guangzhou 510080,China)
ZHU Yun-xiao(Department of Sonography,the First Affiliated Hospital of Sun Yat-sen University,Guangzhou 510080,China)
Journal Title:
CHINESE JOURNAL OF PERINATAL MEDICINE
Issue:
Volume 13, Issue 02, 2010
DOI:
10.3760/cma.j.issn.1007-9408.2010.02.004
Key Word:
Hernia,diaphragmatic;Ultrasonography,prenatal; Chromosome aberrations

Abstract: Objective To analyze the concomitant malforrnations,chromosomal abnormalities and outcomes in prenatally diagnosed congenital diaphragmatic hernia (CDH) cases. Methods Cases of fetal CDH,prenatally identified in the First Affiliated Hospital of Sun Yat-sen University from January 2002 to November 2008,were recruited.The concomitant realformations,chromosomal abnormalities and outcomes of fetal CDlH were analyzed.Fisher's exact test was applied. Results During the study period,71 CDH cases were identified including 62(87.3%) left-sided CDH and 9 (12.7%) right-sided ones.Among the 71 CDH fetuses,38(53.5%)were isolated CDH.33 (46.5%)were complicated with other realformations(complex CDH),including 18(54.5 0A) cardiovascular defects,10 (30.3%)central nervous system abnormalities,9(27.2 0A)genitourinary abnormalities and others.Fetal karyotying was performed in 19 out of the 71 CDH fetuses.among which 12 were isolated CDH cases with normal karyotype,and 4 of the rest 7(4/7)complex CDH cases with chromosomal abnormalities showing a significant differenee compared to the isolated CDH (P.0.009).Sixty-five pregnancies were terminated including all complex CDH(n=33)and 32 isolated CDH.The rest 6 isolated CDH fetuses were term delivered and 5 of them survived after repair of diaphragmatic hernia and one died after birth. Conclusions Left-sided CDH are more common than right-sided ones. Approximately half of the CDH cases are complicated with other malformations,especially cardiovascular abnormalities.The risk of chromosomal abnormalities increases in complex CDH and is relatively low in isolated CDH.The influence of surgical procedure on the prognosis of CDH has not yet determined.

  • [1]Skari H,Bjornland K,Haugen G,et al.Congenital diaphragmatic hernia; a meta-analysis of mortality factors.J Pediatr Surg,2000,35:1187-1197.
  • [2]谢红宁.蔡文,孔秋英.胎儿膈疝的产前超声诊断.中华超声影像学杂志,2003,12:762-763.
  • [3]Diana W,Timothy M,Mary E.Fetology:Diagnosis and management of the fetal patient.Norwalk;Appleton & Lange,2000 ;301-303.
  • [4]Deft MM,Wong LY,Rasmussen SA.Population-based study of congenital diaphragmatic hernia:risk factors and survival in Metropolitan Atlanta,1968-1999.Birth Defects Res A Clin Mol Teratol,2003,67:261-267.
  • [5]Stoll C,Alembik Y,Dott B,et al.Associated malformations in cases with congenital diaphragmatic hernia.Genet Couns,2008,19;331-339.
  • [6]Martinez-Frias ML,Prieto L,Urioste M,et al.Clinical/epidemiological analysis of congenital anomalies associated with diaphragmatic hernia.Am J Med Genet,1996,62:71-76.
  • [7]Enns GM,Cox VA,Goldstein RB,et al.Congenital diaphragmatic defects and associated syndromes,malforma-tions,and chromosome anomalies:A retrospective study of 60 patients and literature review.Am J Med Genet,1998,79:215-225.
  • [8]Yang W,Carmichael SL,Harris JA,et al.Epidemiologic characteristics of congenital diaphragmatic hernia among 2.5 million California births,1989-1997.Birth Defects Res A Clin Mol Terato,2006,76;170-174.
  • [9]Witters I,Legius E.Moerman P,et al.Associated realfor-mations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia.Am J Med Genet,2001,103:278-282.
  • [10]B(e)tr(e)mieux P,Gaillot T,de la Pintiere A,et al.Congenital diaphragmatic hernia ;prenatal diagnosis permits immediate intensive care with high survival rate in isolated cases.A pop-ulation-based study.Pranat Diagn,2004,24:487-493.
  • [11]Datin-Dorriere V,Rouzies S,Taupin P,et al.Prenatal prog-nosis in isolated congenital diaphragmatic hernia.Am J ObstetGynecol,2008,198:80.e1-e5.
  • [12]Hedrick HL,Denzer E,Merchant A,et al.Liver position and lung-to-head ratio for prediction of extracorporeal mem-brahe oxygenation and survival in isolated ldt congenital dia-phragmatic hernia.Am J Obstet Gynecol,2007,197:422.e1-e4.
  • [13]Jani J,Nieolaides KH,Keller RL,et al.Observed to expec-ted lung area to head circumference ratio in the prediction of survival in fetuses with isolated diaphragmatic hernia.Ultra-sound Obstet Gynecol,2007,30:67-71.
  • [14]Gerards FA,Twisk JW,Tibboel D,et al.Congenital diaphragmatic hernia:2D lung area and 3D lung volume measurements of the contralateral lung to predict postnatal outcome.Fetal Diagn Ther,2008,24;271-276.
  • [15]Moreno-Alvarez O,Hernandez-Andrade E,Oros D,et al.Association between intrapulmonary arterial Doppler parame-ters and degree of lung growth as measured by lung-to-head ratio in fetuses with congenital diaphragmatic hernia.Ultra-sound Obstet Gynecol,2008,31:164-170.
WanfangData CO.,Ltd All Rights Reserved
About WanfangData | Contact US
Healthcare Department, Fuxing Road NO.15, Haidian District Beijing, 100038 P.R.China
Tel:+86-010-58882616 Fax:+86-010-58882615 Email:yiyao@wanfangdata.com.cn