Evaluation of indications for amniocentesis in cases of normal fetal ultrasound results
Abstract
Objectives: The objective of this study was to analyze indications for amniocentesis in cases of patients with normal fetal
ultrasound results between 11+0 and 13+6 weeks of gestation.
Material and methods: The results of first-trimester screening tests performed between 2014 and 2018 on 6,863 patients
of the Prenatal Testing Outpatient Clinic at the Clinical Department of Obstetrics and Gynecology, Pomeranian Medical
University, Szczecin, Poland, were analyzed. The inclusion criteria were a singleton pregnancy and normal results of fetal
ultrasound between 11+0- and 13+6-weeks’ gestation. Depending on the calculated risk of fetal trisomy 21, the patients
were divided into three groups (group A = RS > 1:300, group B = RS 1:300 – 1:999, group C = RS ≤ 1:1000). Subsequently,
values such as PAPP-A and fβ-hCG protein levels and maternal age were analyzed for each of the groups.
Results: The patients, 6,310 (91.94%) met the inclusion criteria. A high risk of fetal trisomy 21 was identified for 514 women
(8.15%). Group B had 733 (11.62%) and group C 5,063 (80.23%) patients. In group A, an fβ-hCG level of ≥ 2.000 MoM was
shown for 50.97% of the women. A PAPP-A level ranging from 0.001 to 0.499 MoM was observed for 38.72% of group
A patients. The mean maternal age in groups A, B and C was 36.45, 36.08 and 31.64 years, respectively.
Conclusions: In the first-trimester, patients with normal ultrasound results obtained during prenatal screening tests, the main
cause of an increased risk of trisomy 21 was elevated PAPP-A and fβ-hCG concentrations. According to this paper’s authors,
in these cases extension of diagnosis to include other gestational complications, e.g. preeclampsia, should be considered.
Keywords: amniocentesisultrasonographyprenatalPAPP-AHCG-beta
References
- Kypros HN, Węgrzyn P. Badanie ultrasonograficzne między 11+0–13+6 tygodniem ciąży. Fetal Medicine Foundation, London 2004.
- Sieroszewski P, Słowakiewicz K, Perenc M. Interpretacja fałszywie dodatnich wyników biochemicznych testów prenatalnych. Ginekol Pol. 2010; 81: 210–214.
- Oxvig C. The role of PAPP-A in the IGF system: location, location, location. J Cell Commun Signal. 2015; 9(2): 177–187.
- Sadłecki P, Walentowicz-Sadłecka M, Pasińska M, et al. Indications for genetic amniocentesis investigated at the Department of Gynecology, Obstetrics, and Oncologic Gynecology, Nicolaus Copernicus University, Collegium Medicum, Bydgoszcz. Ginekol Pol. 2014; 85(6): 420–423.
- Ciach K, Swiatkowska-Freund M, Preis K. Evolution of the indications for genetic amniocentesis after the introduction of the prenatal screening program by the national health insurance in Poland. Ginekol Pol. 2013; 84(6): 418–421.
- Ghi T, Sotiriadis A, Calda P, et al. ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis. Ultrasound Obstet Gynecol. 2016; 48(2): 256–268.
- Kornacki J, Ziółkowska K, Goździewicz T, et al. Wyniki badań cytogenetycznych u płodów z poszerzeniem przezierności karkowej. Ginekol Pol. 2012; 83(3): 189–193.
- Bindra R, Heath V, Liao A, et al. One-stop clinic for assessment of risk for trisomy 21 at 11-14 weeks: a prospective study of 15 030 pregnancies. Ultrasound Obstet Gynecol. 2002; 20(3): 219–225.
- Ziolkowska K, Dydowicz P, Sobkowski M, et al. The clinical usefulness of biochemical (free β-hCg, PaPP-a) and ultrasound (nuchal translucency) parameters in prenatal screening of trisomy 21 in the first trimester of pregnancy. Ginekol Pol. 2019; 90(3): 161–166.
- Wojda KM, Moczulska H, Sieroszewski PJ. The absence of fetal nasal bones in ultrasound examination between 11 + 0 and 13 + 6 weeks of gestation versus the occurrence of trisomies 21, 18, and 13. Ginekol Pol. 2019; 90(10): 604–606.
- Staboulidou I, Galindo A, Maiz N, et al. First-trimester uterine artery Doppler and serum pregnancy-associated plasma protein-a in preeclampsia and chromosomal defects. Fetal Diagn Ther. 2009; 25(3): 336–339.
- Spencer K, Cowans NJ, Chefetz I, et al. First-trimester maternal serum PP-13, PAPP-A and second-trimester uterine artery Doppler pulsatility index as markers of pre-eclampsia. Ultrasound Obstet Gynecol. 2007; 29(2): 128–134.
- Odibo AO, Zhong Y, Goetzinger KR, et al. First-trimester placental protein 13, PAPP-A, uterine artery Doppler and maternal characteristics in the prediction of pre-eclampsia. Placenta. 2011; 32(8): 598–602.
- Jameson JL, Hollenberg AN. Regulation of chorionic gonadotropin gene expression. Endocr Rev. 1993; 14(2): 203–221.
- Reisinger K, Baal N, McKinnon T, et al. The gonadotropins: tissue-specific angiogenic factors? Mol Cell Endocrinol. 2007; 269(1-2): 65–80.
- Vaillant P, David E, Constant I, et al. Validity in nulliparas of increased beta-human chorionic gonadotrophin at mid-term for predicting pregnancy-induced hypertension complicated with proteinuria and intrauterine growth retardation. Nephron. 1996; 72(4): 557–563.
- Schielen PC, van Leeuwen-Spruijt M, Belmouden I, et al. Multi-centre first-trimester screening for Down syndrome in the Netherlands in routine clinical practice. Prenat Diagn. 2006; 26(8): 711–718.
- Revankar VM, Narmada L. Assessment of serum β-hCG and lipid profile in early second trimester as predictors of hypertensive disorders of pregnancy. Int J Gynaecol Obstet. 2017; 138(3): 331–334.
- Barjaktarovic M, Korevaar TIM, Jaddoe VWV, et al. Human chorionic gonadotropin and risk of pre-eclampsia: prospective population-based cohort study. Ultrasound Obstet Gynecol. 2019; 54(4): 477–483.
