Long-Term Outcome for Children Born After a First-Trimester Measurement of Increased Nuchal Translucency with a Normal Karyotype: A Retrospective Analysis

Zusammenfassung

Ziel: Beschreibung des Langzeitoutcomes von Feten mit erhöhter Nackentransparenz und normalem Karyotyp im Hinblick auf intrauterine Fruchttode, strukturelle Anomalien, Syndrome und neurologisches Handicap. Material und Methoden: Retrospektive Analyse und Telefoninterview. Alle eingeschlossenen Schwangerschaften mussten eine detaillierte Fehlbildungssonografie im 2. Trimenon aufweisen. Ergebnisse: 279 Schwangerschaften wurden untersucht. Die Over-all-Lebendgeburtenrate war 81,4 %, mit zunehmender NT-Dicke war die Zahl der Lebendgeburten deutlich rückläufig. Herzfehler waren die häufigsten strukturellen Anomalien (7 %). Bei unauffälligem Fehlbildungsultraschall wurde in 92 % ein gesundes Kind geboren. Unerwartete neurologische Beeinträchtigungen traten in 1,1 % der Fälle auf. Schlussfolgerung: In der Beratung der werdenden Eltern in Fällen mit euploiden Feten, erweiterter Nackentransparenz und unauffälligem Fehlbildungsultraschall im 2. Trimenon sollte die günstige Prognose für diese Schwangerschaften betont werden.

Abstract

Purpose: To study the outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency with respect to fetal loss, structural defects genetic syndromes, and neurological outcome. Materials and Methods: Retrospective analysis and telephone interview. All included pregnancies underwent a mid-trimester anomaly scan. Results: 279 pregnancies were included. The overall live birth rate was 81.4 %, and decreased as the NT measurement increased. The most common structural defect was cardiac anomalies (7 %). If the second-trimester anomaly scan was uneventful, the chance of a healthy live birth was 92 %. The number of unexpected neurodevelopmental delays after a normal scan during mid-trimester was 1.1 %. Conclusion: Counseling should emphasize that if the karyotype is normal and no fetal structural malformations were missed prenatally after resolution of nuchal thickening, the prognosis is positive.

fetus - ultrasound 2D - pregnancy - nuchal translucency

References

• 1 Taipale P, Hiilesma V, Salonen R. et al . Increased nuchal translucency as a marker for fetal chromosomal defects.  N Engl J Med. 1997;  337 1654-1658
• 2 Snijders R JM, Noble P, Sebire N. 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.  Lancet. 1998;  351 343-346
• 3 Snijders R J, Johnson S, Sebire N J. et al . First trimester ultrasound screening for chromosomal defects (Review).  Ultrasound Obstet Gynecol. 1996;  7 216-226
• 4 Pandya P P, Kondylios A, Hilbert L. et al . Chromosomal defects and outcome in 1015 fetuses with increased nuchal translucency.  Ultrasound Obstet Gynecol. 1995;  5 15-19
• 5 Senat M V, Bussieres L, Couderc S. et al . Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99^th percentile or greater with normal karyotype: a prospective study.  Am J Obstet Gynecol. 2007;  196 53-58
• 6 Souka A P, Snijders R J, Novakov A. et al . Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10 – 14 weeks of gestation.  Ultrasound Obstet Gynecol. 1998;  11 391-400
• 7 Bilardo C M, Pajkrt E, Graaf de I. et al . Outcome of fetuses with enlarged nuchal translucency and normal karyotype.  Ultrasound Obstet Gynecol. 1998;  11 401-406
• 8 Souka A P, Krampl E, Bakalis S. et al . Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester.  Ultrasound Obstet Gynecol. 2001;  18 9-17
• 9 Senat M V, De Keersmaecker B, Audibert F. et al . Pregnancy outcome in fetuses with increased nuchal translucency and normal karyotype.  Prenat Diagn. 2002;  22 345-349
• 10 Souka A P, Kaisenberg C S, Hyett J A. et al . Increased nuchal translucency with normal karyotype.  Am J Obstet Gynecol. 2005;  192 1005-1021
• 11 Bilardo C M. Increased nuchal translucency and normal karyotype: coping with uncertainty.  Ultrasound Obstet Gynecol. 2001;  17 99-101
• 12 Bilardo C M, Muller M A, Pajkrt von E. Outcome of fetuses with increased nuchal translucency.  Curr Opin Obstet Gynecol. 2001;  13 169-174
• 13 Bilardo C M, Müller M A, Pajkrt E. et al . Increased nuchal translucency thickness and normal karyotype: time for parental reassurance.  Ultrasound Obstet Gynecol. 2007;  30 11-18
• 14 Brady A F, Pandya P P, Yuksel B. et al . Outcome of chromosomally normal live births with increased nuchal translucency at 10 – 14 weeks of gestation.  J Med Genet. 1998;  35 222-224
• 15 Maymon R, Weinraub Z, Herman A. Pregnancy outcome of euploid fetuses with increased nuchal translucency: how bad is the news?.  J Perinat Med. 2005;  33 191-198
• 16 Baumann C, Delagarde R, Vuilard E. et al . Long-term follow-up of children with increased nuchal translucency and normal karyotype.  J Gynecol Obstet Biol Reprod. 2005;  34 S97-S102
• 17 Iskaros J, Jauniaux E, Rodeck C. Outcome of nonimmune hydrops fetalis diagnosed during the first half of pregnancy.  Obstet Gynecol. 1997;  90 321-325
• 18 Haak M C, Van Vugt J M. Pathophysiology of increased nuchal translucency: A review of the literature.  Hum Reprod Update. 2003;  9 175-184
• 19 Von Kaisenberg C S, Nicolaides K H, Brand-Saberi B. Lymphatic vessel hypoplasia in fetuses with Turner syndrome.  Hum Reprod. 1999;  14 823-826
• 20 Carvalho J S. The fetal heart or the lymphatic system or…? The quest for the etiology of increased nuchal translucency.  Ultrasound Obstet Gynecol. 2005;  25 215-220
• 21 Adekunle O, Goppe A, El-Sayed M. et al . Increased first trimester nuchal translucency: Pregnancy and infant outcomes after routine screening for Down’s syndrome in an unselected population.  Br J Radiol. 1999;  72 457-460
• 22 Hiippala A, Eronen M, Taipale P. et al . Fetal nuchal translucency and normal chromosomes: a long term follow-up study.  Ultrasound Obstet Gynecol. 2001;  18 18-22
• 23 Ville Y. Nuchal translucency in the first trimester of pregnancy: Ten years on and still a pain in the neck?.  Ultrasound Obstet Gynecol. 2001;  18 5-8
• 24 Buskens E, Grobbee D E, Frohn-Mulder I M. et al . Efficacy of routine fetal ultrasound screening for congenital heart disease in normal pregnancy.  Circulation. 1996;  94 67-72
• 25 Rustico M A, Benettoni A, D’Ottavio G. et al . Fetal heart screening in low-risk pregnancies.  Ultrasound Obstet Gynecol. 1995;  6 313-319
• 26 Gembruch U, Knöpfle G, Chaterjee M. et al . First-trimester diagnosis of fetal congenital heart disease by transvaginal two-dimensional and Doppler echocardiography.  Obstet Gynecol. 1990;  75 496-498
• 27 Bronshtein M, Zimmer E M, Milo S. et al . Fetal cardiac abnormalities detected by transvaginal sonography at 12 – 16 weeks’ gestation.  Obstet Gynecol. 1991;  78 374-378
• 28 Yagel S, Cohen S M, Messing B. First and early second trimester fetal heart screening.  Curr Opin Obstet Gynecol. 2007;  19 183-190
• 29 Haak M C, Bartelings M M, De Gittenberger-Groot A C. et al . Cardiac malformations in first-trimester fetuses with increased nuchal translucency: ultrasound diagnosis and post-mortem morphology.  Ultrasound Obstet Gynecol. 2002;  20 14-21
• 30 Atzei A, Gajewska K, Huggon I C. et al . Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype.  Ultrasound Obstet Gynecol. 2005;  26 154-157
• 31 Clur S A, Mathijssen I B, Pajkrt E. et al . Structural heart defects associated with an increased nuchal translucency: 9 years experience in a referral centre.  Prenat Diagn. 2008;  28 347-354
• 32 Axt-Fliedner R, Hartge D, Krapp M. et al . Course and outcome of fetuses suspected of having coarctation of the aorta during gestation.  Ultraschall in Med. 2008;  Epub ahead of print
• 33 Berg C, Geipel A, Gembruch U. The four-chamber view in fetal echocardiography.  Ultraschall in Med. 2007;  28 132-151
• 34 Popp S, Schulz B, Granzow M. et al . Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.  Hum Genet. 2002;  111 31-39
• 35 Rotten D, Levaillant J M. Two- and three-dimensional sonographic assessment of the fetal face. 1. A systematic analysis of the normal face.  Ultrasound Obstet Gynecol. 2004;  23 224-231
• 36 Van Vugt J MG, Tinnemans B WS, Zalensprock. Outcome and early childhood follow-up of chromosomally normal fetuses with increased nuchal translucency at 10 – 14 week’s gestation.  Ultrasound Obstet Gynecol. 1998;  11 407-409
• 37 Maymon R, Jauniaux E, Cohen O. et al . Pregnancy outcome and infant follow-up of fetuses with abnormally increased first trimester nuchal translucency.  Hum Reprod. 2000;  15 2023-2027
• 38 Malone F, Ball R, Nyberg D. et al . FASTER trial research consortium. First-trimester separated cystic hygroma: prevalence, natural history, and pediatric outcome.  Obstet Gynecol. 2005;  106 288-294