Increased nuchal translucency with normal karyotype: A follow-up study of 100 cases supplemented with CGH and MLPA analyses

Ultrasound in Obstetrics and Gynecology

Volumn 34, Issue 6, 2009, Pages 618-622

  Schou, K V ^a   Kirchhoff, M ^a   Nygaard, U ^a   Jorgensen C ^a   Sundberg, K ^a  

^a Rigshospitalet   (Denmark)

Author keywords

HR CGH; Increased nuchal translucency; Microdeletion; MLPA; Normal karyotype; Outcome

Indexed keywords

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FOLLOW-UP STUDIES; GESTATIONAL AGE; HUMANS; KARYOTYPING; NUCHAL TRANSLUCENCY MEASUREMENT; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PREGNANCY; PREGNANCY OUTCOME; PREGNANCY, HIGH-RISK; RISK FACTORS; ULTRASONOGRAPHY, PRENATAL;

EID: 73449105736     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.7468     Document Type: Article

References (22)

1. Souka AP, Krampl E, Bakalis S, Heath V, Nicolaides KH. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 2001; 18: 9-17.
2. Michailidis GD, Economides DL. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses. Ultrasound Obstet Gynecol 2001; 17: 102-105.
3. Bilardo CM, Müller MA, Pajkrt E, Van Zalen MM, Bijlsma EK. Increased nuchal translucency thickness and normal karyotype: time for parental reassurance. Ultrasound Obstet Gynecol 2007; 30: 11-18.
4. Clur SA, Mathijsen IB, Pajkrt E, Cook A, Laurini RN, Ottenkamp J, Bilardo CM. Structural heart defects associated with increased nuchal translucency: 9 years experience in a referral centre. Prenat Diagn 2008; 28: 347-354.
5. Atzei A, Gajewska K, Huggon IC, Allan L, Nicolaides KH. Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype. Ultrasound Obstet Gynecol 2005; 26: 154-157.
6. Pajkrt E, Weisz B, Firth HV, Chitty LS. Review. Fetal cardiac anomalies and genetic syndromes. Prenat Diagn 2004; 24: 1104-1115.
7. Tonni G, Azzoni D, Ambrosetti F, de Felice C, Ventura A. Cerebro-fronto-facial syndrome (Dandy-Walker variant and frontofacial dysmorphisms): report of the first case identified by increased nuchal translucency beyond 13 + 6 weeks. Congenit Anom (Kyoto) 2007; 47: 68-71.
8. Rauch A, Dörr HG. Chromosome 5q subtelomeric deletion syndrome. Am J Med C Semin Med Genet 2007; 145: 372-376.
9. Gerdes T, Kirchhoff M, Bryndorf T. Automatic analysis of multiplex ligation-dependent probe amplification products (exemplified by a commercial kit for prenatal aneuploidy detection). Electrophoresis 2005; 26: 4327-4332.
10. Kirchhoff M, Gerdes T, Maahr J, Rose H, Lundsteen C. Automatic correction of the interfering effect of unsuppressed interspersed repetitive sequences in comparative genomic hybridization analysis. Cytometry 1997; 28: 130-134.
11. Kirchhoff M, Gerdes T, Rose H, Maahr J, Ottesen AM, Lundsteen C. Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals. Cytometry 1998; 31: 163-173.
12. Kichhoff M, Gerdes T, Maahr J, Rose H, Bendtz M, Döhner H, Lundsteen C. Deletions below 10 megabasepairs are detected in comparative genomic hybridization by standard reference intervals. Genes Chromosomes Cancer 1999; 25: 410-413.
13. Kirchhoff M, Gerdes T, Brunebjerg S, Bryndorf T. Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplification. Am J Med Genet 2005; 139: 231-233.
14. Gerdes T, Kirchhoff M, Bryndorf T. Automatic analysis of multiplex ligation-dependent probe amplification products (exemplified by a commercial kit for prenatal aneuploidy detection). Electrophoresis 2005; 26: 4327-4332.
15. Baujat G, Cormier-Daire V. Review. Sotos syndrome. Orphanet J Rare Dis 2007; 2: 36.
16. Brisset S, Romana S, Texier I, Lapierre J-M, North M-O, Vekemansand M, Morichon-Delvallez N. CGH analysis in a cohort of 17 chromosomally normal fetuses with an increased nuchal translucency. Prenat Diagn 2003; 23: 1017-1025.
17. Rode L, Wøjdemann K, Christiansen M, Tabor A, Sundberg K. Association between fetal gender and nuchal translucency thickness. Ultrasound Obstet Gynecol 2007; 30: 367-455 [OC81].
18. Senat M-V, Bussières L, Couderc S, Roume J, Rozenberg P, Bouyer J, Ville Y. Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: A prospective study. Am J Obstet Gynecol 2007; 196: 53.e1-53.e6.
19. Westin M, Saltvedt S, Almström H, Grunewald C, Valentin L. By how much does increased nuchal translucency increase the risk of adverse outcome in chromosomally normal fetuses? A study of 16260 fetuses derived from an unselected pregnant population. Ultrasound Obstet Gynecol 2007; 29: 150-158.
20. Souka AP, von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 2005; 192: 1005-1021.
21. Bi W, Breman AM, Venable SF, Eng PA, Sahoo T, Lu XY, Patel A, Beaudet AL, Cheung SW, White LD. Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array-CGH. Prenat Diagn 2008; 28: 943-949.
22. Cain CC, Saul DO, Oehler E, Blakemore K, Stetten G. Prenatal detection of a subtle unbalanced chromosome rearrangement by karyotyping, FISH and array comparative genomic hybridization. Fetal Diagn Ther 2008; 24: 286-290.