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Journals / Şişli Etfal Hastanesi Tıp Bülteni / 2013 / Cilt: 47 - Sayı: 4

Comparison of the first trimester screening test parameters according to the amniocentesis results

Birinci trimester tarama testi parametrelerinin amniyosentez sonuçlarına göre karşılaştırılması

Ali BAHADIRLI
Naile İnci DAVAS
Pages
181–186
DOI
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⚡ TL;DR(Too Long; Didn't Read)

Conclusion: The increases of NT thickness and combined risk in 1. trimester screening test observed as more important parameters than the other parameters of the test for determining chromosomal abnormalities.

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: We aimed to evaluate the contribution of first trimester screening maternal serum biochemical markers and nuchal translucency assessment in fetal chromosomal abnormality detection Material and Methods: The data of 69 patients who had high risk for chromosomal abnormality in 1. trimester screening test and was performed genetic amniocentesis (AC) for prenatal diagnosis in İstanbul Şişli Etfal Training and Research Hospital second clinic of Obstetrics and Gynecology Department between January 2007 and January 2009 was retrospectively evaluated.
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Key Findings & Data:Nuchal translucency (NT) results, pregnancy-associated plasma protein-A (PAPP-A) ve free ß-hCG (fß-hCG), age risk, biochemical risk and combined risk results gathered from 1. trimester screening test were compared for their chromosomal abnormality determining rates.
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Conclusion & Impact:Conclusion: The increases of NT thickness and combined risk in 1. trimester screening test observed as more important parameters than the other parameters of the test for determining chromosomal abnormalities.
🔬Design:Research Article
📍Scope:2007 Verileri
⚙️Variables:Domain Parameters

Abstract

Objective: We aimed to evaluate the contribution of first trimester screening maternal serum biochemical markers and nuchal translucency assessment in fetal chromosomal abnormality detection Material and Methods: The data of 69 patients who had high risk for chromosomal abnormality in 1. trimester screening test and was performed genetic amniocentesis (AC) for prenatal diagnosis in İstanbul Şişli Etfal Training and Research Hospital second clinic of Obstetrics and Gynecology Department between January 2007 and January 2009 was retrospectively evaluated. Nuchal translucency (NT) results, pregnancy-associated plasma protein-A (PAPP-A) ve free ß-hCG (fß-hCG), age risk, biochemical risk and combined risk results gathered from 1. trimester screening test were compared for their chromosomal abnormality determining rates. Results: 3 (%4,2) of 69 amniocentesis results were abnormal for chromosomal pattern. (%1,4 Trizomi 21, %1,4 15p delesyon, %1,4 INV 9-P11Q13) We found NT&#8805;3 mm in all cases of chromosomal aberration. The increases in NT thickness and combined risk parameters were found to be highly statistically significant in detecting chromosomal abnormalities according to the amniocentesis results (p<0,01). Although we determined risk in PAPP-A and fß-hCG levels of 10 cases, none of them had abnormal karyotype. Conclusion: The increases of NT thickness and combined risk in 1. trimester screening test observed as more important parameters than the other parameters of the test for determining chromosomal abnormalities.

Özet

Amaç: Prenatal tarama amacıyla yapılan birinci trimester tarama testindeki maternal serum biyokim- yasal belirteçlerin ve ense saydamlığı (NT) ölçümünün fetal kromozomal anomali tespitine katkılarını değerlendirmeyi amaçladık. Gereç ve Yöntemler: İstanbul Şişli Etfal Eğitim ve Araştırma Hastanesi 2. Kadın Hastalıkları ve Doğum Kliniğinde Ocak 2007 - Ocak 2009 aralığında 1. Trimester tarama testinde kromozom anomali riski yüksek olan 69 olguya prenatal tanı amaçlı yapılan amniyosentezlerin sonuçları geriye dönük olarak incelenmiş ve yorumlanmıştır. Ense saydamlığı (NT) bulguları, 1. Trimester tarama testi sonuçların- daki gebelik ilişkili plazma proteini A (PAPP-A) ve serbest ß-hCG (fß-hCG) değerleri, yaş riski, biyo- kimyasal risk ve kombine risk oranları gibi parametrelerin kromozom anomalisi saptama oranları amniyosentez sonuçlarına göre karşılaştırıldı. Bulgular: Yapılan amniyosentez sonuçlarına göre 69 hastadan 3’ünde (%4,2) anormal kromozomal patern saptandı. (%1,4 Trizomi 21, %1,4 15p delesyon, %1,4 INV 9-P11Q13) Anormal olan 3 olgunun tamamında NT≥3mm olarak değerlendirilmiştir. NT kalınlık artışı ve kombine risk artışı ile amniyo- sentez sonucunda anormal kromozomal patern saptanması arasında ileri düzeyde anlamlı bir ilişki bulundu (p<0,01). 10 olguda PAPP-A ve fß-hCG değerlerinin her ikisi açısından da risk saptanmış olup bu olguların tümünde fetal karyotip normal olarak gelmiştir. Sonuç: 1.Trimester tarama testinde NT kalınlığı artışının ve bununla bağlantılı olarak artan kombine risk oranının kromozom anomalilerini belirlemede testteki diğer parametrelere göre daha önemli olduğu gözlendi.

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Cite This Article

BAHADIRLI, A., DAVAS, N. İ. (2013). Comparison of the first trimester screening test parameters according to the amniocentesis results. Şişli Etfal Hastanesi Tıp Bülteni, Cilt: 47 - Sayı: 4, 181–186. https://ajindex.com/articles/363824

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