Significance of chromosome 22q11 analysis after detection of an increased first‐trimester nuchal translucency

To determine the value of performing routine fluorescent in situ hybridization (FISH) for microdeletions of chromosome 22q11 when karyotyping fetuses with increased nuchal translucency.

[1]  B. Thilaganathan,et al.  Limitations of using first‐trimester nuchal translucency measurement in routine screening for major congenital heart defects , 2001, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[2]  J. Dean,et al.  Chromosome 22q11 microdeletion and congenital heart disease – a survey in a paediatric population , 1999, European Journal of Pediatrics.

[3]  A. Munnich,et al.  Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies , 1998, European Journal of Pediatrics.

[4]  K. Nicolaides,et al.  UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation , 1998, The Lancet.

[5]  E. Zackai,et al.  Frequency of 22q11 deletions in patients with conotruncal defects. , 1998, Journal of the American College of Cardiology.

[6]  R. Snijders,et al.  Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10–14 weeks of gestation , 1998, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[7]  M. Davenport,et al.  Fetal Nuchal Translucency Thickness at 10–14 Weeks' Gestation and Congenital Diaphragmatic Hernia , 1997, Obstetrics and gynecology.

[8]  K. Nicolaides,et al.  Increased nuchal translucency at 10—14 weeks of gestation as a marker for major cardiac defects , 1997, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[9]  B. Thilaganathan,et al.  Nuchal translucency: a marker for the antenatal diagnosis of aortic coarctation , 1996, British journal of obstetrics and gynaecology.

[10]  S. Bewley.  Screening of fetal trisomies by maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation , 1996, British journal of obstetrics and gynaecology.

[11]  K. Nicolaides,et al.  First‐Trimester Fetal Nuchal Translucency Thickness and Risk for Trisomies , 1994, Obstetrics and gynecology.

[12]  K. Nicolaides,et al.  Fetal nuchal translucency: ultrasound screening for fetal trisomy in the first trimester of pregnancy , 1994, British journal of obstetrics and gynaecology.

[13]  J. Hegesh,et al.  First-Trimester Diagnosis of Fetal Congenital Heart Disease by Transvaginal Ultrasonography , 1994, Obstetrics and gynecology.

[14]  P. Scambler,et al.  DiGeorge syndrome: part of CATCH 22. , 1993, Journal of medical genetics.

[15]  B. Marino,et al.  Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and del22q11. , 1999, Genetic counseling.

[16]  J. Hess,et al.  Chromosome 22q11 deletions in patients with selected outflow tract malformations. , 1999, Genetic counseling.