Increased nuchal translucency and normal karyotype: Perinatal and pediatric outcomes at 2 years of age

Ultrasound in Obstetrics and Gynecology

Volumn 39, Issue 1, 2012, Pages 34-41

  Mula, R ^a   Gonce A ^a   Bennasar M ^a   Arigita, M ^a   Meler, E ^a   Nadal, A ^a   Sanchez A ^a   Botet, F ^a   Borrell, A ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

Author keywords

fetal anomalies; follow up; genetic syndromes; increased nuchal translucency; normal karyotype

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; ECHOCARDIOGRAPHY; FEMALE; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; GENETICS; HUMAN; KARYOTYPING; MALE; METHODOLOGY; NEWBORN; NUCHAL TRANSLUCENCY MEASUREMENT; PRACTICE GUIDELINE; PREGNANCY; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PROGNOSIS; RISK FACTOR; SECOND TRIMESTER PREGNANCY;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; ECHOCARDIOGRAPHY; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; KARYOTYPING; MALE; NUCHAL TRANSLUCENCY MEASUREMENT; PRACTICE GUIDELINES AS TOPIC; PREGNANCY; PREGNANCY OUTCOME; PREGNANCY TRIMESTER, FIRST; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS; PROGNOSIS; RISK FACTORS; ULTRASONOGRAPHY, PRENATAL; YOUNG ADULT;

EID: 84555178618     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.10059     Document Type: Article

References (26)

1. Nicolaides KH,. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol 2004; 191: 45-67. (Pubitemid 39077955)
2. Borrell A, Quinto L, Fortuny A, Borobio V, Mercadé I, Vanrell JA,. Translucencia nucal y ductus venoso: Valores de re-ferencia en el primer trimestre de la gestaciõn. Progr Obstet Ginecol 2006; 49: 434-440.
3. 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. (Pubitemid 40487772)
4. Senat MV, De Keersmaecker B, Audibert F, Montcharmont G, Frydman R, Ville Y,. Pregnancy outcome in fetuses with increased nuchal translucency and normal karyotype. Prenat Diagn 2002; 22: 345-349. (Pubitemid 34538557)
5. Bilardo CM, Müller MA, Pajkrt E, Clur SA, van, Zalen MM, Bijlsma EK,. Increased nuchal translucency thickness and normal karyotype: time for parental reassurance. Ultrasound Obstet Gynecol 2007; 30: 11-18. (Pubitemid 47074846)
6. Bilardo CM, Timmerman E, Pajkrt E, van Maarle M,. Increased nuchal translucency in euploid fetuses-what should we be telling the parents? Prenat Diagn 2010; 30: 93-102.
7. Borrell A, Casals E, Fortuny A, Farre MT, Gonce A, Sanchez A, Soler A, Cararach V, Vanrell JA,. First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study. Prenat Diagn 2004; 24: 541-545. (Pubitemid 39061909)
8. Fetal Medicine Foundation.
9. Mademont-Soler I, Morales C, Bruguera J, Madrigal I, Clusellas N, Margarit E, Sánchez A, Soler A,. Subtelomeric MLPA: it is really useful in prenatal diagnosis? Prenat Diagn 2010; 30: 1165-1169.
10. Squires J, Potter L, Bricker D,. The ASQ User's Guide for the Ages and Stages Questionnaires: a parent-completed, child monitoring system. Paul H Brookes Publishing Company: Baltimore, MD, 1995.
11. Bilardo CM, Pajkrt E, de Graaf I, Mol BW, Bleker OP,. Outcome of fetuses with enlarged nuchal translucency and normal karyotype. Ultrasound Obstet Gynecol 1998; 11: 401-406. (Pubitemid 28344741)
12. Michailidis GD, Economides DL,. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses. Ultrasound Obstet Gynecol 2001; 17: 102-105.
13. Timmerman E, Pajkrt E, Maas SM, Bilardo CM,. Enlarged nuchal translucency in chromosomally normal fetuses: strong association with orofacial clefts. Ultrasound Obstet Gynecol 2010; 36: 427-432.
14. Souka P, 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.
15. Galindo A, Comas C, Martinez JM, Gutiérrez-Larraya F, Carrera JM, Puerto B, Borrell A, Mortera C, de la Fuente P,. Cardiac defects in chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks of gestation. J Matern Fetal Neonatal Med 2003; 13: 163-170. (Pubitemid 36384516)
16. McAuliffe F, Winsor S, Hornberger L, Johnson J-A,. Fetal cardiac defects and increased nuchal translucency thickness [abstract]. Am J Obstet Gynecol 2003; 189: 571.
17. Senat MV, 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.e1-6.
18. Hollis B, Mavrides E, Carvalho JS, 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.
19. Donnenfeld AE, 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. (Pubitemid 43183709)
20. Lautrup CK, Kjaergaard S, Brøndum-Nielsen K, Fagerberg C, Hertz JM, Petersen OB, Jørgensen MW, 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.
21. Van Vugt JM, Tinnemans BW, Van Zalen-Sprock RM,. Outcome and early childhood follow-up of chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks' gestation. Ultrasound Obstet Gynecol 1998; 11: 407-409. (Pubitemid 28344742)
22. Brady AF, Pandya PP, Yuksel B, Greenough A, Patton MA, Nicolaides KH,. Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-11 weeks' gestation. J Med Genet 1998; 35: 222-224. (Pubitemid 28159927)
23. Adekunle O, Gopee A, el-Sayed M, Thilaganathan B,. Increased first trimester nuchal translucency: pregnancy and infant outcomes after routine screening for Down's syndrome in an unselected antenatal population. Br J Radiol 1999; 72: 457-460. (Pubitemid 29241582)
24. Maymon R, Jauniaux E, Cohen O, Dreazen E, Weinraub Z, Herman A,. Pregnancy outcome and infant follow-up of fetuses with abnormally increased first trimester nuchal translucency. Hum Reprod 2000; 15: 2023-2027.
25. Hiippala A, Eronen M, Taipale P, Salonen R, Hiilesmaa V,. Fetal nuchal translucency and normal chromosomes: a long-term follow-up study. Ultrasound Obstet Gynecol 2001; 18: 18-22.
26. Cheng CC, Bahado-Singh RO, Chen SC, Tsai MS,. Pregnancy outcomes with increased nuchal translucency after routine Down syndrome screening. Int J Gynaecol Obstet 2004; 84: 5-9. (Pubitemid 38064136)