Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome

European Journal of Medical Genetics

Volumn 53, Issue 6, 2010, Pages 367-370

  Bretelle, Florence ^a   Beyer, Laura ^a   Pellissier, Marie Christine ^b   Missirian, Chantal ^b   Sigaudy, Sabine ^b   Gamerre, Marc ^b,c   D'Ercole, Claude ^a   Philip, Nicole ^b  

^a HÔPITAL NORD   (France)

^b TIMONE HOSPITAL   (France)

^c HÔPITAL DE LA CONCEPTION   (France)

Author keywords

22q11.2 deletion syndrome; Conotruncal anomalies; Prenatal diagnosis; Ultrasound

Indexed keywords

ACCURACY; ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; ECHOGRAPHY; FETUS; FETUS ECHOGRAPHY; GENETIC SCREENING; HUMAN; INFANT; MAJOR CLINICAL STUDY; MEDICAL INFORMATION; NEWBORN; PERINATAL PERIOD; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS;

22Q11 DELETION SYNDROME; ADOLESCENT; ADULT; ANEUPLOIDY; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PREGNANCY; PRENATAL DIAGNOSIS; RETROSPECTIVE STUDIES; ULTRASONOGRAPHY, PRENATAL; YOUNG ADULT;

EID: 78349311628     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.07.008     Document Type: Article

References (32)

1. Barrea C., Yoo S.J., Chitayat D., Valsangiacomo E., Winsor E., Smallhorn J.F., Hornberger L.K. Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion. Prenat. Diagn. 2003, 23:9-15.
2. Boudjemline Y., Fermont L., Le Bidois J. Prevalence of 22q11.2 deletion in fetuses with conotruncal heart defects: a 6-year prospective study. J. Pediatr. 2001, 138:520-524.
3. Boudjemline Y., Fermont L., Le Bidois J., Villain E., Sidi D., Bonnet D. Can we predict 22q11 status of fetuses with tetralogy of Fallot?. Prenat. Diagn. 2002, 22:231-234.
4. Chaoui R., Kalache K.D., Heling K.S., Tennstedt C., Bommer C., Korner H. Absent or hypoplasic thymus on ultrasound: a marker for deletion 22q11.2 in fetal cardiac defects. Ultrasound Obstet. Gynecol. 2002, 20:546-552.
5. Chaoui R., Korner H., Bommer C., Kalache K.D. Fetal thymus and the 22q11.2 deletion. Prenat. Diagn. 2002, 22:831-832.
6. Chen M., Hwu W.L., Kuo S.J., Chen C.P., Yin P.L., Chang S.P., Lee D.J., Chen T.H., Wang B.T., Lin C.C. Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype. Ultrasound Obstet. Gynecol. 2006, 28:939-943.
7. Davidson A., Khandelwal M., Punnett H.H. Prenatal diagnosis of the 22q11 deletion syndrome. Prenat. Diagn. 1997, 17:380-383.
8. Donnenfeld A.E., Cutillo D., Horwitz J., Knops J. Prospective study of 22q11 deletion analysis in fetuses with excess nuchal translucency. Am. J. Obstet. Gynecol. 2006, 194:508-511.
9. Driscoll D.A. Prenatal diagnosis of the 22q11.2 deletion syndrome. Genet. Med. 2001, 3:14-18.
10. Galindo A., Mendoza A., Arbues J., Grañeras A., Escribano D., Nieto O. Conotruncal anomalies in fetal life: accuracy of diagnosis, associated defects and outcome. Eur. J. Obstet. Gynecol. Reprod. Biol. 2009, 146:55-60.
11. Galindo A., Nieto O., Nieto M.T., Rodríguez-Martín M.O., Herraiz I., Escribano D., Granados M.A. Prenatal diagnosis of right aortic arch: associated findings, pregnancy outcome, and clinical significance of vascular rings. Prenat. Diagn. 2009, 29:975-981.
12. Goodship J., Robson S.C., Sturgiss S., Cross I.E., Wright C. Renal abnormalities on obstetric ultrasound as a presentation of DiGeorge syndrome. Prenat. Diagn. 1997, 17:867-870.
13. Guyot L., Dubuc M., Pujol J., Dutour O., Philip N. Craniofacial anthropometric analysis in patients with 22q11 microdeletion. Am. J. Med. Genet. 2001, 100:1-8.
14. Hollis B., Mavrides E., Carvalho J.S., Hill L., Dickinson V., Thilaganathan B. Significance of chromosome 22q11 analysis after detection of an increased first-trimester nuchal translucency. Ultrasound Obstet. Gynecol. 2001, 18:32-34.
15. Kobrynski L.J., Sullivan K.E. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 2007, 370:1443-1452.
16. Kurjak A., Azumendi G., Andonotopo W., Salihagic-Kadic A. Three- and four-dimensional ultrasonography for the structural and functional evaluation of the fetal face. Am. J. Obstet. Gynecol. 2007, 196:16-28.
17. Lautrup C.K., Kjaergaard S., Brøndum-Nielsen K., Fagerberg C., Hertz J.M., Petersen O.B., Jorgensen M.W., Vogel I. Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype. Acta. Obstet. Gynecol. Scand. 2008, 87:1252-1255.
18. Levy-Mozziconacci A., Piquet C., Heurtevin P.C., Philip N. Prenatal diagnosis of 22q11 microdeletion. Prenat. Diagn. 1997, 17:1033-1037.
19. Manji S., Roberson J.R., Wiktor A., Vats S., Rush P., Diment S., Van Dyke D.L. Prenatal diagnosis of 22q11.2 deletion when ultrasound examination reveals a heart defect. Genet. Med. 2001, 3:65-66.
20. McDonald-McGinn D.M., Kirschner R., Goldmuntz E., Sullivan K., Eicher P., Gerdes M., Moss E., Solot C., Wang P., Jacobs I., Handler S., Knightly C., Heher K., Wilson M., Ming J.E., Grace K., Driscoll D., Pasquariello P., Randall P., Larossa D., Emanuel B.S., Zackai E.H. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet. Couns. 1999, 10:11-24.
21. McDonald-McGinn D.M., Zackai E.H. Genetic counseling for the 22q11.2 deletion. Dev. Disabil. Res. Rev. 2008, 14:69-74.
22. Ming J.E., McDonald-McGinn D.M., Megerian T.E., Driscoll D.A., Elias E.R., Russell B.M., Irons M., Emanuel B.S., Markowitz R.I., Zackai E.H. Skeletal anomalies and deformities in patients with deletions of 22q11. Am. J. Med. Genet. 1997, 72:210-215.
23. Moore J.W., Binder G.A., Berry R. Prenatal diagnosis of aneuploidy and deletion 22q11.2 in fetuses with ultrasound detection of cardiac defects. Am. J. Obstet. Gynecol. 2004, 191:2068-2073.
24. Raymond F.L., Simpson J.M., Mackie C.M., Sharland G.K. Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects. J. Med. Genet. 1997, 34:679-682.
25. Reish O., Finkelstein Y., Mesterman R., Nachmani A., Wolach B., Fejgin M., Amiel A. Is isolated palatal anomaly an indication to screen for 22q11 region deletion?. Cleft Palate Craniofac. J. 2003, 40:176-179.
26. Robyr R., Bernard J.P., Roume J., Ville Y. Familial diseases revealed by a fetal anomaly. Prenat. Diagn. 2006, 26:1224-1234.
27. Ryan A.K., Goodship J.A., Wilson D.I., Philip N., Levy A., SeidelSchuffenhauer H.S., Oechsler H., Belohradsky B., Prieur M., Aurias A., Raymond F.L., Clayton-Smith J., Hatchwell E., McKeown C., Beemer F.A., Dallapiccola B., Novelli G., Hurst J.A., Ignatius J., Green A.J., Winter R.M., Brueton L., Brøndum-Nielsen K., Scambler P.J., et al. Spectrum of clinical features associated with interstitial chromosome 22q1 deletions:a European collaborative study. J. Med. Genet. 1997, 34:798-804.
28. Tuo G., Volpe P., Bava G.L., Bondanza S., De Robertis V., Pongiglione G., Marasini M. Prenatal diagnosis and outcome of isolated vascular rings. Am. J. Cardiol. 2009, 103:416-419.
29. Vesel S., Rollings S., Jones A., Callaghan N., Simpson J., Sharland G.K. Prenatally diagnosed pulmonary atresia with ventricular septal defect: echocardiography, genetics, associated anomalies and outcome. Heart 2006, 92:1501-1505.
30. Volpe P., Marasini M., Caruso G., Marzullo A., Buonadonna A.L., Arciprete P., Di Paolo S., Volpe G., Gentile M. 22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: impact of additional ultrasound signs. Prenat. Diagn. 2003, 23:752-757.
31. Volpe P., Paladini D., Marasini M., Buonadonna A.L., Russo M.G., Caruso G., Marzullo A., Arciprete P., Martinelli P., Gentile M. Characteristics, associations and outcome of absent pulmonary valve syndrome in the fetus. Ultrasound Obstet. Gynecol. 2004, 24:623-628.
32. Wu H.Y., Rusnack S.L., Bellah R.D., Plachter N., McDonald-McGinn D.M., Zackai E.H., Canning D.A. Genitourinary malformation in chromosome 22q11.2 deletion. J. Urol. 2002, 168:2564-2565.