Amniocentesis Following Positive First Trimester Combined Screening: A Comparative Study
,
Abstract
The birth of a neonate with chromosomal abnormalities, e.g. Down syndrome has very serious problems for family, society, and for the neonate itself, and therefore prenatal evaluation is imperative in determining the fate of the fetus. This research aimed to assess the association and accuracy of amniocentesis with first-trimester combined screening. In this study, specimens from 1066 cases were analyzed for free Beta human chorionic gonadotropin, pregnancy-associated plasma protein A, along with nuchal translucency and nasal bone ultrasonography from October 2013 till November 2014. Upon observing positive screening, mothers underwent amniocentesis. Finally the amniocentesis results were compared with that of first-trimester screening. Our results determined a direct relation between the high age of the mother and gravidity with P of 0.001 and 0.020 with positive first-trimester screening. Our study attained a 92% accuracy rate of amniocentesis due to one case of mosaicism of trisomy 21, that was not diagnosed, because it was not requested by physician. Only 12 (17.1%) cases out of 70 (mothers with positive first-trimester screening) showed positive amniocentesis, which had a significant relationship with chromosomal abnormality. First trimester combined screening has very high accuracy (94.6%) in prediction of genetic abnormalities. The probability of positive first-trimester screening is directly influenced by number of factors, including the mother age and gravidity. Amniocentesis is necessary for all of mothers with positive first-trimester screening and will almost always detect chromosomal abnormalities.
Specific Medians for Nuchal Translucency to Improve First-Trimester Screening Performance. Obstet Gynecol 2012;119:785-94.
2. Baer R, Flessel M, Jelliffe-Pawlowski L, Goldman S, Hudgins L, Hull A, et al. 216: Detection of chromosome abnormalities by sequential screening with first and second trimester serum and nuchal translucency. Am J Obstet Gynecol 2015;212:121-2.
3. ER P, NA IJR. Results of routine first trimester screening tests and following invasive procedures during pregnancy. Perinat J 2015;23:50-5.
4. Fang YMV, Benn P, Campbell W, Bolnick J, Prabulos AM, Egan JF. Down syndrome screening in the United States in 2001 and 2007: a survey of maternal-fetal medicine specialists. Am J Obstet Gynecol 2009;201:1-5
5. Zelig CM, Knutzen DM, Ennen CS, Dolinsky BM, Napolitano PG. Chorionic Villus Sampling, Early Amniocentesis, and Termination of Pregnancy Without Diagnostic Testing: Comparison of Fetal Risk Following Positive Non-invasive Prenatal Testing. J Obstet Gynaecol Can 2016;38:441-5.
6. Rydberg C, Tunón K. Detection of fetal abnormalities by second‐trimester ultrasound screening in a non‐selected population. Acta Obstet Gynecol Scand 2017;96:176-82.
7. Lan R-Y, Chou C-T, Wang P-H, Chen R-C, Hsiao C-H. Trisomy 21 screening based on first and second trimester in a Taiwanese population. Taiwan J Obstet Gynecol 2018;57:551-4.
8. Chaudhury K, Mukherjee K. Sensitivity and specificity of a prenatal screening method using the combination of maternal age and fetal nuchal translucency thickness for fetal aneuploidy: a clinical study in eastern India. Int J Reprod Contracept Obstet Gynecol 2016;5:148-53.
9. Liu Y, Ye X, Zhang N, Zhang B, Guo C, Huang W, et al. Diagnostic value of ultrasonographic combining biochemical markers for Down syndrome screening in first
trimester: a meta‐analysis. Prenat Diagn 2015;35:879-87.
10. Sequeira S, Uppal S. Prenatal screening for fetal aneuploidies during the first and second trimester of pregnancy. Hamdan Med J 2013;212:1-12.
11. Rose NC, Lagrave D, Hafen B, Jackson M. The impact of utilization of early aneuploidy screening on amniocenteses available for training in obstetrics and fetal medicine. Prenat Diagn 2013;33:242-4.
12. Singh N. Screening for Fetal Aneuploidy. Screening in Obstetrics & Gynecology: Management of Abnormalit. 1th ed. New Delhi, India: Jaypee Brothers,2015.
13. Spencer K. Screening for Down syndrome. Scand J Clin Lab Invest 2014;74:41-7.
14. Seyyed Kavoosi E, Younessi S, Farhud DD. Screening of Fetal Chromosome Aneuploidies in the First and Second Trimester of 125,170 Iranian Pregnant Women. Iran J Public Health 2015;44:791-6.
15. Shajpal A, Siddiqui F. Screening for Down syndrome. Obstet Gynecol Reprod Med. 2017;27:333-7.
16. Chitayat D, Langlois S, Wilson RD, Audibert F, Blight C, Brock J-A, et al. Prenatal screening for fetal aneuploidy in singleton pregnancies. J Obstet Gynaecol Can 2011;33:736-50.
17. Tørring N, Petersen OB, Uldbjerg N. Ten years of experience with first-trimester screening for fetal aneuploidy employing biochemistry from gestational weeks 6+ 0 to 13+ 6. Fetal Diagn Ther 2015;37:51-7.
18. Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011;31:7-15.
19. Källén B. Genetic and Non-genetic Factors in the Origin of Congenital Malformations. Epidemiology of Human Congenital Malformations. Berlin, Germany: Springer, 2014:5-8.
| Files | ||
| Issue | Vol 57, No 6 (2019) | |
| Section | Articles | |
| DOI | https://doi.org/10.18502/acta.v57i6.1879 | |
| Keywords | ||
| Pregnancy first trimester Amniocentesis Prenatal diagnosis | ||
| Rights and permissions | |
|
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
