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FIRST TRIMESTER SCREENING

Year 2001, Volume: 14 Issue: 1, 42 - 46, 03.12.2016

Abstract

All women, whatever their age, face a small risk of delivering a baby with a physical and/or mental handicap. In some cases the handicap is due to a chromosomal abnormality such as Down syndrome. The only way to know for sure whether or not the fetus has a chromosomal abnormality is by having an invasive test done, such as chorionic villus sampling (CVS) or amniocentesis. However, these tests carry a risk of miscarriage of about 1% (1). The most recent and accurate way of estimating the risk of the fetus having a chromosomal abnormality is carried out at 11-13 weeks and depends on the:
a) age of the mother
b) amount of fluid behind the neck of the fetus (nuchal translucency) (Fig. 1)
c) presence of any fetal abnormalities
d) fetal heart rate
e) level of two hormones (0-HCG and PAPP-A) in the mother's blood.
After the scan, on the basis of all the above factors, the estimated risk for Down syndrome can be discussed with the patient.
Irrespective of whether the patient decides to have an invasive test, it is recommended that she has a scan at 20 weeks to check for physical abnormalities (2).
Key Words: Nuchal translucency, First trimester screening

References

  • Hicolaides MH, Azar G, Snijders fiJM, et al.
  • Fetal nuchal edema: associated
  • malformations and chromosomal defects. Fetal Diagn Ther 1992;7:123-131.
  • Brizot MC, Snijders RIM, Butler J, et al. Maternal serum hCG, and fetal nuchal translucency thickness for the prediction of fetal trisomies in the first trimester of pregnancy. Br J Obstet Gynecol 1995; 102:127-132.
  • Braithwaite JM, Kadir RA, Fepera TA, et al. nuchal translucency measurement: training of potential examiners. Ultrasound Obstet Gynecol 1996;8:192-195.
  • Monni G, Loppi MA, Ibba RM, et al. Results of measurement of nuchal translucency before and after training. Lancet 1997:350:1631 - 1632.
  • Snijders RJM, noble F, Sebire nj, et al Multicentre project on assessment of risk
  • trisomy 21 by maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation. Lancet 1998;351:343-346.
  • Sebire nj, Snijders RJM, Davenport M, Greenough A, nicolaides llI. Fetal nuchal translucency thickness at 10-14 weeks gestation and congenital diaphragmatic hernia. Obstet Gynecol 1997:90:943-946.
  • Bronsthein M, Lewit n, Sujov F, Makhoul I, Blazer S. Prenatal diagnosis of congenital diaphragmatic hernia: timing of visceral herniation and outcome. Frenat Diagn 1995;15:695-698.
  • Sebire TU, Bianco D, Snijders RJM, Zuckerman M. Increased fetal nuchal translucency thickness at 10-14 weeks: is screening for maternal fetal infection necessary? Br J Obstet Gynecol 1997;104:212-215.
  • Sherrod C, Sebire TU, Soares W, et al. Prenatal diagnosis of trisomy 18 at the 10-14 week ultrasound scan. Ultrasound Obstet Gynecol 1996;7:101-103.
  • Snijders RJM, Sebire TU, Tlayar R, et al. Increased nuchal translucency in trisomy 13 fetuses at 10-14 wees of gestation. Am J Med Genet 1999;86:205-207.
  • Sebire TU, Snijders Rl, Brown R, et al. Detection of sex chromosome abnormalities by nuchal translucency screening at 10-14 weeks. Frenat Diagn 1998:18:581-584.
  • Jauniaux E, Brown R, Snijders RJM, et al. Early prenatal diagnosis of triploidy. Am J Obstet Gynecol 1997;176:550-554.
  • Ozturk M, Milunsky A, Branbati B, et al. Abnormal maternal levels of hCG subunits In trisomy 18. Am J Med Genet 1990:36:480- 483.
  • Spencer K, Macri JTI, Ditken DA, et al. Free beta HCG a first trimester marker for feta! trisomy. Lancet 1992;339:1480.
  • Haddow JE, Palomaki GE, Knight GJ, et al. Screening of maternal serum for fetal Down's syndrome in the first trimester. Ti Engl J Med 1998;338:955-961.
  • Spencer K, Souter V, Tul il, et al. A screening programme for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free J5-human chorionic gonadotropin and pregnancy associated plasma protein-A. Ultrasound Obstet Gynecol 1999; 13:231 -237.
  • I 7. de Graaf IM, Pajkrt E, Bilardo CM, et al. Early pregnancy screening for fetal aneuploidy with serum markers and nuchal translucency. Frenat Dign 1999; 19:458-462.
  • Zehra Kavak
  • Orlandi F, Damiani G, Hallahan TW, et al. First trimester screening for aneuploidy; biochemistry and nuchal translucency. Ultrasound Obstet Gynecol 1997; 10:381 -386.
  • nicolaides Fti, Snijders KJM, Gosden CM. Ultrasonographically detectable markers of
  • feta! chromosomal abnormalities. Lancet 1992;340:704-707.
  • Snijders RJM, nicolaides FtI. Assessment of risks. In: Ultrasound Markers for Fetal
  • Chromosomal Defects. Carnforth,Parthenon Publishing, 1996:63-120.
Year 2001, Volume: 14 Issue: 1, 42 - 46, 03.12.2016

Abstract

References

  • Hicolaides MH, Azar G, Snijders fiJM, et al.
  • Fetal nuchal edema: associated
  • malformations and chromosomal defects. Fetal Diagn Ther 1992;7:123-131.
  • Brizot MC, Snijders RIM, Butler J, et al. Maternal serum hCG, and fetal nuchal translucency thickness for the prediction of fetal trisomies in the first trimester of pregnancy. Br J Obstet Gynecol 1995; 102:127-132.
  • Braithwaite JM, Kadir RA, Fepera TA, et al. nuchal translucency measurement: training of potential examiners. Ultrasound Obstet Gynecol 1996;8:192-195.
  • Monni G, Loppi MA, Ibba RM, et al. Results of measurement of nuchal translucency before and after training. Lancet 1997:350:1631 - 1632.
  • Snijders RJM, noble F, Sebire nj, et al Multicentre project on assessment of risk
  • trisomy 21 by maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation. Lancet 1998;351:343-346.
  • Sebire nj, Snijders RJM, Davenport M, Greenough A, nicolaides llI. Fetal nuchal translucency thickness at 10-14 weeks gestation and congenital diaphragmatic hernia. Obstet Gynecol 1997:90:943-946.
  • Bronsthein M, Lewit n, Sujov F, Makhoul I, Blazer S. Prenatal diagnosis of congenital diaphragmatic hernia: timing of visceral herniation and outcome. Frenat Diagn 1995;15:695-698.
  • Sebire TU, Bianco D, Snijders RJM, Zuckerman M. Increased fetal nuchal translucency thickness at 10-14 weeks: is screening for maternal fetal infection necessary? Br J Obstet Gynecol 1997;104:212-215.
  • Sherrod C, Sebire TU, Soares W, et al. Prenatal diagnosis of trisomy 18 at the 10-14 week ultrasound scan. Ultrasound Obstet Gynecol 1996;7:101-103.
  • Snijders RJM, Sebire TU, Tlayar R, et al. Increased nuchal translucency in trisomy 13 fetuses at 10-14 wees of gestation. Am J Med Genet 1999;86:205-207.
  • Sebire TU, Snijders Rl, Brown R, et al. Detection of sex chromosome abnormalities by nuchal translucency screening at 10-14 weeks. Frenat Diagn 1998:18:581-584.
  • Jauniaux E, Brown R, Snijders RJM, et al. Early prenatal diagnosis of triploidy. Am J Obstet Gynecol 1997;176:550-554.
  • Ozturk M, Milunsky A, Branbati B, et al. Abnormal maternal levels of hCG subunits In trisomy 18. Am J Med Genet 1990:36:480- 483.
  • Spencer K, Macri JTI, Ditken DA, et al. Free beta HCG a first trimester marker for feta! trisomy. Lancet 1992;339:1480.
  • Haddow JE, Palomaki GE, Knight GJ, et al. Screening of maternal serum for fetal Down's syndrome in the first trimester. Ti Engl J Med 1998;338:955-961.
  • Spencer K, Souter V, Tul il, et al. A screening programme for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free J5-human chorionic gonadotropin and pregnancy associated plasma protein-A. Ultrasound Obstet Gynecol 1999; 13:231 -237.
  • I 7. de Graaf IM, Pajkrt E, Bilardo CM, et al. Early pregnancy screening for fetal aneuploidy with serum markers and nuchal translucency. Frenat Dign 1999; 19:458-462.
  • Zehra Kavak
  • Orlandi F, Damiani G, Hallahan TW, et al. First trimester screening for aneuploidy; biochemistry and nuchal translucency. Ultrasound Obstet Gynecol 1997; 10:381 -386.
  • nicolaides Fti, Snijders KJM, Gosden CM. Ultrasonographically detectable markers of
  • feta! chromosomal abnormalities. Lancet 1992;340:704-707.
  • Snijders RJM, nicolaides FtI. Assessment of risks. In: Ultrasound Markers for Fetal
  • Chromosomal Defects. Carnforth,Parthenon Publishing, 1996:63-120.
There are 26 citations in total.

Details

Journal Section Review Article
Authors

Zehra Kavak This is me

Publication Date December 3, 2016
Published in Issue Year 2001 Volume: 14 Issue: 1

Cite

APA Kavak, Z. (2016). FIRST TRIMESTER SCREENING. Marmara Medical Journal, 14(1), 42-46.
AMA Kavak Z. FIRST TRIMESTER SCREENING. Marmara Med J. June 2016;14(1):42-46.
Chicago Kavak, Zehra. “FIRST TRIMESTER SCREENING”. Marmara Medical Journal 14, no. 1 (June 2016): 42-46.
EndNote Kavak Z (June 1, 2016) FIRST TRIMESTER SCREENING. Marmara Medical Journal 14 1 42–46.
IEEE Z. Kavak, “FIRST TRIMESTER SCREENING”, Marmara Med J, vol. 14, no. 1, pp. 42–46, 2016.
ISNAD Kavak, Zehra. “FIRST TRIMESTER SCREENING”. Marmara Medical Journal 14/1 (June 2016), 42-46.
JAMA Kavak Z. FIRST TRIMESTER SCREENING. Marmara Med J. 2016;14:42–46.
MLA Kavak, Zehra. “FIRST TRIMESTER SCREENING”. Marmara Medical Journal, vol. 14, no. 1, 2016, pp. 42-46.
Vancouver Kavak Z. FIRST TRIMESTER SCREENING. Marmara Med J. 2016;14(1):42-6.