Nuchal Translucency Comparison Essay

1. Dancis J, Springer D. Fetal homeostasis in maternal malnutrition: potassium and sodium deficiency in rats. Pediatr Res. 1970;4(4):345–51. Epub 1970/07/01. doi: 10.1203/00006450-197007000-00005 . [PubMed]

2. Gardella C. Lead exposure in pregnancy: a review of the literature and argument for routine prenatal screening. Obstet Gynecol Surv. 2001;56(4):231–8. Epub 2001/04/04. . [PubMed]

3. Holmes P, James KA, Levy LS. Is low-level environmental mercury exposure of concern to human health?Sci Total Environ. 2009;408(2):171–82. Epub 2009/10/24. doi: 10.1016/j.scitotenv.2009.09.043 S0048-9697(09)00906-1 [pii]. . [PubMed]

4. Schoeters G, Den Hond E, Zuurbier M, Naginiene R, van den Hazel P, Stilianakis N, et al. Cadmium and children: exposure and health effects. Acta Paediatr Suppl. 2006;95(453):50–4. Epub 2006/09/27. doi: M276677NQX4Q7MP7 [pii] doi: 10.1080/08035320600886232 . [PubMed]

5. Knipp GT, Audus KL, Soares MJ. Nutrient transport across the placenta. Adv Drug Deliv Rev. 1999;38(1):41–58. Epub 2000/06/06. doi: S0169-409X(99)00005-8 [pii]. . [PubMed]

6. Carter AM. Evolution of factors affecting placental oxygen transfer. Placenta. 2009;30Suppl A:S19–25. Epub 2008/12/17. doi: 10.1016/j.placenta.2008.11.006 S0143-4004(08)00379-2 [pii]. . [PubMed]

7. Cross JC. Placental function in development and disease. Reprod Fertil Dev. 2006;18(1–2):71–6. Epub 2006/02/16. doi: RD05121 [pii]. . [PubMed]

8. Iyengar GV, Rapp A. Human placenta as a 'dual' biomarker for monitoring fetal and maternal environment with special reference to potentially toxic trace elements. Part 3: toxic trace elements in placenta and placenta as a biomarker for these elements. Sci Total Environ. 2001;280(1–3):221–38. Epub 2002/01/05. doi: S0048-9697(01)00827-0 [pii]. . [PubMed]

9. Jin Y, Xi S, Li X, Lu C, Li G, Xu Y, et al. Arsenic speciation transported through the placenta from mother mice to their newborn pups. Environ Res. 2006;101(3):349–55. Epub 2006/02/07. doi: S0013-9351(05)00189-1 [pii] doi: 10.1016/j.envres.2005.11.006 . [PubMed]

10. Pajkrt E, de Graaf IM, Mol BW, van Lith JM, Bleker OP, Bilardo CM. Weekly nuchal translucency measurements in normal fetuses. Obstet Gynecol. 1998;91(2):208–11. Epub 1998/02/20. doi: S0029-7844(97)00658-3 [pii]. . [PubMed]

11. Braithwaite JM, Morris RW, Economides DL. Nuchal translucency measurements: frequency distribution and changes with gestation in a general population. Br J Obstet Gynaecol. 1996;103(12):1201–4. Epub 1996/12/01. . [PubMed]

12. Szabo J, Gellen J. Nuchal fluid accumulation in trisomy-21 detected by vaginosonography in first trimester. Lancet. 1990;336(8723):1133. Epub 1990/11/03. doi: 0140-6736(90)92614-N [pii]. . [PubMed]

13. Pajkrt E, Bilardo CM, Van Lith JM, Mol BW, Bleker OP. Nuchal translucency measurement in normal fetuses. Obstet Gynecol. 1995;86(6):994–7. Epub 1995/12/01. doi: 0029-7844(95)00310-N [pii] doi: 10.1016/0029-7844(95)00310-N . [PubMed]

14. Yagel S, Anteby EY, Rosen L, Yaffe E, Rabinowitz R, Tadmor O. Assessment of first-trimester nuchal translucency by daily reference intervals. Ultrasound Obstet Gynecol. 1998;11(4):262–5. Epub 1998/06/10. doi: 10.1046/j.1469-0705.1998.11040262.x . [PubMed]

15. Haak MC, van Vugt JM. Pathophysiology of increased nuchal translucency: a review of the literature. Hum Reprod Update. 2003;9(2):175–84. Epub 2003/05/20. . [PubMed]

16. Bakker M, Pajkrt E, Bilardo CM. Increased nuchal translucency with normal karyotype and anomaly scan: What next?Best Pract Res Clin Obstet Gynaecol. 2013. Epub 2013/12/18. doi: S1521-6934(13)00157-0 [pii] doi: 10.1016/j.bpobgyn.2013.10.004 . [PubMed]

17. Pandya PP, Snijders RJ, Johnson S, Nicolaides KH. Natural history of trisomy 21 fetuses with increased nuchal translucency thickness. Ultrasound Obstet Gynecol. 1995;5(6):381–3. Epub 1995/06/01. doi: 10.1046/j.1469-0705.1995.05060381.x . [PubMed]

18. Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet. 1998;352(9125):343–6. Epub 1998/08/26. doi: S0140673697112806 [pii]. . [PubMed]

19. 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(1):9–17. Epub 2001/08/08. doi: uog454 [pii] doi: 10.1046/j.1469-0705.2001.00454.x . [PubMed]

20. Chen CP. Pathophysiology of increased fetal nuchal translucency thickness. Taiwan J Obstet Gynecol. 2010;49(2):133–8. Epub 2010/08/17. doi: S1028-4559(10)60029-0 [pii] doi: 10.1016/S1028-4559(10)60029-0 . [PubMed]

21. Sotiriadis A, Papatheodorou S, Makrydimas G. Neurodevelopmental outcome of fetuses with increased nuchal translucency and apparently normal prenatal and/or postnatal assessment: a systematic review. Ultrasound Obstet Gynecol. 2012;39(1):10–9. Epub 2011/11/22. doi: 10.1002/uog.10143 . [PubMed]

22. Miron P, Cote YP, Lambert J. Nuchal translucency thresholds in prenatal screening for Down syndrome and trisomy 18. J Obstet Gynaecol Can. 2009;31(3):227–35. Epub 2009/05/07. . [PubMed]

23. Strah DM, Pohar M, Gersak K. Risk assessment of trisomy 21 by maternal age and fetal nuchal translucency thickness in 7,096 unselected pregnancies in Slovenia. J Perinat Med. 2008;36(2):145–50. Epub 2008/02/09. doi: 10.1515/JPM.2008.015 . [PubMed]

24. Kagan KO, Wright D, Baker A, Sahota D, Nicolaides KH. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol. 2008;31(6):618–24. Epub 2008/05/08. doi: 10.1002/uog.5331 . [PubMed]

25. De Biasio P, Canini S, Prefumo F, Venturini PL. Trisomy 18 in a fetus with normal NT and abnormal maternal serum biochemistry. Prenat Diagn. 2002;22(6):492–3. Epub 2002/07/13. doi: 10.1002/pd.338 . [PubMed]

26. Mogra R, Alabbad N, Hyett J. Increased nuchal translucency and congenital heart disease. Early Hum Dev. 2012. Epub 2012/04/10. doi: S0378-3782(12)00063-1 [pii] doi: 10.1016/j.earlhumdev.2012.02.009 . [PubMed]

27. Liu SS, Lee FK, Lee JL, Tsai MS, Cheong ML, She BQ, et al. Pregnancy outcomes in unselected singleton pregnant women with an increased risk of first-trimester Down's syndrome. Acta Obstet Gynecol Scand. 2004;83(12):1130–4. Epub 2004/11/19. doi: AOG425 [pii] doi: 10.1111/j.0001-6349.2004.00425.x . [PubMed]

28. Hyett J, Moscoso G, Papapanagiotou G, Perdu M, Nicolaides KH. Abnormalities of the heart and great arteries in chromosomally normal fetuses with increased nuchal translucency thickness at 11–13 weeks of gestation. Ultrasound Obstet Gynecol. 1996;7(4):245–50. Epub 1996/04/01. doi: 10.1046/j.1469-0705.1996.07040245.x . [PubMed]

29. Hyett JA, Perdu M, Sharland GK, Snijders RS, Nicolaides KH. Increased nuchal translucency at 10–14 weeks of gestation as a marker for major cardiac defects. Ultrasound Obstet Gynecol. 1997;10(4):242–6. Epub 1997/12/31. doi: 10.1046/j.1469-0705.1997.10040242.x . [PubMed]

30. Bilardo CM, Muller MA, Zikulnig L, Schipper M, Hecher K. Ductus venosus studies in fetuses at high risk for chromosomal or heart abnormalities: relationship with nuchal translucency measurement and fetal outcome. Ultrasound Obstet Gynecol. 2001;17(4):288–94. Epub 2001/05/08. doi: 10.1046/j.1469-0705.2001.00387.x [pii] . [PubMed]

31. Clur SA, Oude Rengerink K, Mol BW, Ottenkamp J, Bilardo CM. Fetal cardiac function between 11 and 35 weeks' gestation and nuchal translucency thickness. Ultrasound Obstet Gynecol. 2011;37(1):48–56. Epub 2010/08/26. doi: 10.1002/uog.8807 . [PubMed]

32. Moscoso G. Fetal nuchal translucency: a need to understand the physiological basis. Ultrasound Obstet Gynecol. 1995;5(1):6–8. Epub 1995/01/01. doi: 10.1046/j.1469-0705.1995.05010006.x . [PubMed]

33. Nicolaides KH, Heath V, Cicero S. Increased fetal nuchal translucency at 11–14 weeks. Prenat Diagn. 2002;22(4):308–15. Epub 2002/05/01. doi: 10.1002/pd.308 . [PubMed]

34. Hornung RW, Reed LD. Estimation of average concentration in the presence of nondetectable values. Appl Occup Environ Hyg. 1990;5:46–51.

35. Page IJ. Fetal nuchal translucency: ultrasound screening for fetal trisomy in the first trimester of pregnancy. Br J Obstet Gynaecol. 1995;102(9):758; author reply 9–60. Epub 1995/09/01. . [PubMed]

36. Blackburn ST. Maternal, Fetal, and Neonatal physiology A Clinical Prespective. SAUNDERS; 2003.

37. Steinlauf AF, Traube M. Gastrointestinal complications In: Medical complications during pregnancy. (Editors: Burrow GM, Duffy TP) SAUNDERS, Philadephia: 1999.

38. Jewell D, Young G. Interventions for nausea and vomiting in early pregnancy. Cochrane Database Syst Rev. 2003;(4):CD000145 Epub 2003/10/30. doi: 10.1002/14651858.CD000145 . [PubMed]

39. Lindheimer MD, Richardson DA, Ehrlich EN, Katz AI. Potassium homeostasis in pregnancy. J Reprod Med. 1987;32(7):517–22. Epub 1987/07/01. . [PubMed]

40. Polin RA, Fox WW, Abman SH. Fetal and Neonatal Physiology. SAUNDERS; 2004.

41. Serrano CV, Talbert LM, Welt LG. Potassium Deficiency in the Pregnant Dog. J Clin Invest. 1964;43:27–31. Epub 1964/01/01. doi: 10.1172/JCI104890 ; PubMed Central PMCID: PMC289492. [PMC free article][PubMed]

42. Jara L, Ondarza A, Blanco R, Rivera L. Composition of the parotid saliva in Chilean children with Down's syndrome. Arch Biol Med Exp (Santiago). 1991;24(1):57–60. Epub 1991/01/01. . [PubMed]

43. McCoy EE, Segal DJ, Bayer SM, Strynadka KD. Decreased ATPase and increased sodiun content of platelets in Down's syndrome. Relation to decreased serotonin content. N Engl J Med. 1974;291(18):950–3. Epub 1974/10/31. doi: 10.1056/NEJM197410312911807 . [PubMed]

44. Little B. Water and Electrolyte Balance during Pregnancy. Anesthesiology. 1965;26:400–8. Epub 1965/07/01. . [PubMed]

45. Thorburn GD, Harding R. Textbook of Fetal Physiology. Oxford Medical Publications; 1994.

46. Rodeck CH, Whittle MJ. Fetal Medicine: Basic Science and Clinical Practice. Churchill Liveingstone Elsevier; 2009.

47. Roland MC, Friis CM, Voldner N, Godang K, Bollerslev J, Haugen G, et al. Fetal growth versus birthweight: the role of placenta versus other determinants. PLoS One. 2012;7(6):e39324 Epub 2012/06/23. doi: 10.1371/journal.pone.0039324 PONE-D-12-02779 [pii]. ; PubMed Central PMCID: PMC3377679. [PMC free article][PubMed]



This was a randomized controlled trial from March 2001 to November 2004, involving one university teaching hospital and one regional hospital. The local ethics committee of each hospital approved the research protocol. Enrolled pregnant women were randomized into either the control group (10 to 14 + 6-week nuchal scan followed by routine 16–23-week scan) or the study group (10 to 14 + 6-week nuchal scan and detailed 12 to 14 + 6-week scan followed by routine 16–23-week scan). The exclusion criteria were: multiple pregnancy, molar pregnancy, ectopic pregnancy, late booking (over 15 weeks' gestation) and fetus at risk of homozygous α0-thalassemia12. During the study, integrated screening for fetal Down syndrome using first-trimester nuchal translucency thickness (NT) measurement, second-trimester biochemical markers (alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG)) and maternal age was offered to pregnant women of all ages.

Calculation of sample size

We assumed a detection rate for major fetal abnormalities of 50% in the control group, based on the detection rates of 35% in the RADIUS study3 and 61.4% in the Eurofetus study1. Assuming a detection rate of 75% for fetal abnormalities in the study group, the study would have a power of 80% to estimate a 25% difference in detection rate between the two groups, if 8800 subjects (4400 in each study arm) were recruited13.


Randomization was performed at prenatal booking, before ultrasound examination. After written consent was obtained, each woman was randomized using sealed numbered envelopes. A data collection book was used for recording the woman's information and a data collection sheet was used for recording ultrasound examination findings.


Transabdominal sonography was performed first, using an Acuson 128 XP10 or a Sequoia (Siemens Acuson Medical Systems, Mountain View, CA, USA) ultrasound machine, equipped with a C5–7-MHz curvilinear transducer. If necessary, transvaginal sonography using a C5–10-MHz curvilinear transducer was employed. Gestational age was ascertained by measurement of the fetal crown–rump length before 13 weeks of gestation, and biparietal diameter and head circumference between 13 and 14 + 6 weeks.

Eight experienced operators performed the 10 to 14 + 6-week ultrasound examinations. NT was measured adhering to the standard outlined by The Fetal Medicine Foundation14. We used our published nomograms to define increased NT15. Women allocated to the study group had an additional detailed fetal morphology scan between 12 and 14 + 6 weeks, consisting of a standard anatomical survey as in the second-trimester anomaly scan16, 17 (women enrolling into the study group before 12 weeks of gestation were given a later appointment for the detailed first-trimester anomaly scan, while those enrolling at or after 12 weeks of gestation underwent a combined nuchal and detailed first-trimester anomaly scan). Cardiac anatomy was evaluated by examining the four chambers and the aortic and pulmonary outflow tracts. Thirty minutes were allocated for each examination, which had to be performed within this time frame even if all target organs could not be well visualized because of an unfavorable fetal or uterine position. If the anatomical survey was normal, the woman underwent a routine 16–23-week ultrasound examination. Women allocated to the control group had a dating and nuchal scan between 10 and 14 + 6 weeks, followed by a routine 16–23-week ultrasound examination.

Increased NT in itself was not considered an abnormality, unless there was an associated structural abnormality. However, a cystic hygroma was regarded as an abnormality requiring further assessment and possibly invasive tests18, 19. Choroid plexus cyst and pyelectasis were recorded, but were not considered as abnormalities or markers of chromosomal abnormalities.

If abnormalities were suspected at the first-trimester or routine 16–23-week scan, one of two obstetricians (C.P.L. or M.T.) experienced in prenatal diagnosis also examined the woman to confirm the abnormalities. After confirmation, appropriate counseling and management were provided. Neonatal examination was performed by obstetricians and pediatricians. The following conditions were excluded because they were unlikely to be detected before birth: clicking hip, inguinal hernia, undescended testes, hydrocele, phimosis, isolated skin lesions and functional cardiac murmurs. Pregnancy outcome was obtained from the hospital records or by contacting the patients directly.

Statistical analysis

The SPSS for Windows 12.0 software package (SPSS Inc., Chicago, IL, USA) was used for statistical analysis. Primary outcome measures were compared between groups and detection rates with 95% confidence limits were calculated. The differences in proportions were analyzed using Fisher's exact test or the chi-square test. The differences in continuous data were calculated using Student's t-test. A two-sided value of P < 0.05 was considered statistically significant.

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