First and Second Trimester Biochemical Markers in Familial Mediterranean Fever

Familial Mediterranean Fever (FMF) is the most common hereditary monogenic auto-inflammatory disease. In this study we aimed to document whether FMF affects the biochemical components of first and second trimester combined aneuploidy screening tests including serum free beta human chorionic gonadotr...

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Main Authors: Ayse Kirbas, Korkut Daglar, Hakan Timur, Gulenay Gencosmanoglu, Ozgur Kara, Zehra Yilmaz, Hasan Ali Inal, Nuri Danisman
Format: Article
Language:English
Published: Society of Turaz Bilim 2016-06-01
Series:Medicine Science
Subjects:
Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=209972
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author Ayse Kirbas
Korkut Daglar
Hakan Timur
Gulenay Gencosmanoglu
Ozgur Kara
Zehra Yilmaz
Hasan Ali Inal
Nuri Danisman
author_facet Ayse Kirbas
Korkut Daglar
Hakan Timur
Gulenay Gencosmanoglu
Ozgur Kara
Zehra Yilmaz
Hasan Ali Inal
Nuri Danisman
author_sort Ayse Kirbas
collection DOAJ
description Familial Mediterranean Fever (FMF) is the most common hereditary monogenic auto-inflammatory disease. In this study we aimed to document whether FMF affects the biochemical components of first and second trimester combined aneuploidy screening tests including serum free beta human chorionic gonadotropin (β-hCG), placenta associated plasma protein-A (PAPP-A), unconjugated estriol (uE3), total hCG and alfa-fetoprotein (AFP). In this prospective case control study, a total of consecutive 59 singleton pregnancies, 29 of with FMF and other 30 healthy women, were followed from the first trimester to end of the pregnancy. Most of pregnant women with FMF (86.2%) were under treatment with colchicine. The markers PAPP-A, free β-hCG and the nuchal translucency (NT) thickness were examined at 11-13 weeks. Serum samples for AFP, uE3 and total hCG were obtained at 16-19 weeks after detailed examination. There were no cases of fetal chromosomal anomaly in neither of the groups. Both first-and second trimester marker levels were not significantly different in absence of aneuploidy or neural tube defects in FMF and control group. No difference was seen for NT measurements. False-positive rate for Down syndrome was comparable between the groups using a term risk cut-off level of 1/250. Pregnant with FMF should be reassured about the not altered levels of first-and second trimester marker. Therefore readjusting the serum markers used for Down syndrome screening is not advised. Future trials of larger scale are needed to assess any need for readjustment of the risk in the patient population with FMF. [Med-Science 2016; 5(2.000): 448-56]
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spelling doaj.art-35531d1dd9f94a18a6f950ef94407e282024-02-03T06:40:24ZengSociety of Turaz BilimMedicine Science2147-06342016-06-01524485610.5455/medscience.2016.05.8415209972First and Second Trimester Biochemical Markers in Familial Mediterranean FeverAyse Kirbas0Korkut Daglar1Hakan Timur2Gulenay Gencosmanoglu3Ozgur Kara4Zehra Yilmaz5Hasan Ali Inal6Nuri Danisman7Department of Perinatology, Zekai Tahir Burak Women's Health Education and Research Hospital, Ankara, Turkey Department of Perinatology, Zekai Tahir Burak Women's Health Education and Research Hospital, Ankara, Turkey Department of Perinatology, Zekai Tahir Burak Women's Health Education and Research Hospital, Ankara, Turkey Department of Perinatology, Zekai Tahir Burak Women's Health Education and Research Hospital, Ankara, Turkey Department of Perinatology, Zekai Tahir Burak Women's Health Education and Research Hospital, Ankara, Turkey Department of Perinatology, Zekai Tahir Burak Women's Health Education and Research Hospital, Ankara, Turkey Department of Obstetrics and Gynecology, Konya Education and Research Hospital, Konya, Turkey Department of Perinatology, Zekai Tahir Burak Women's Health Education and Research Hospital, Ankara, TurkeyFamilial Mediterranean Fever (FMF) is the most common hereditary monogenic auto-inflammatory disease. In this study we aimed to document whether FMF affects the biochemical components of first and second trimester combined aneuploidy screening tests including serum free beta human chorionic gonadotropin (β-hCG), placenta associated plasma protein-A (PAPP-A), unconjugated estriol (uE3), total hCG and alfa-fetoprotein (AFP). In this prospective case control study, a total of consecutive 59 singleton pregnancies, 29 of with FMF and other 30 healthy women, were followed from the first trimester to end of the pregnancy. Most of pregnant women with FMF (86.2%) were under treatment with colchicine. The markers PAPP-A, free β-hCG and the nuchal translucency (NT) thickness were examined at 11-13 weeks. Serum samples for AFP, uE3 and total hCG were obtained at 16-19 weeks after detailed examination. There were no cases of fetal chromosomal anomaly in neither of the groups. Both first-and second trimester marker levels were not significantly different in absence of aneuploidy or neural tube defects in FMF and control group. No difference was seen for NT measurements. False-positive rate for Down syndrome was comparable between the groups using a term risk cut-off level of 1/250. Pregnant with FMF should be reassured about the not altered levels of first-and second trimester marker. Therefore readjusting the serum markers used for Down syndrome screening is not advised. Future trials of larger scale are needed to assess any need for readjustment of the risk in the patient population with FMF. [Med-Science 2016; 5(2.000): 448-56]http://www.ejmanager.com/fulltextpdf.php?mno=209972pregnancycolchicinenuchal translucencypapp-aafphcg
spellingShingle Ayse Kirbas
Korkut Daglar
Hakan Timur
Gulenay Gencosmanoglu
Ozgur Kara
Zehra Yilmaz
Hasan Ali Inal
Nuri Danisman
First and Second Trimester Biochemical Markers in Familial Mediterranean Fever
Medicine Science
pregnancy
colchicine
nuchal translucency
papp-a
afp
hcg
title First and Second Trimester Biochemical Markers in Familial Mediterranean Fever
title_full First and Second Trimester Biochemical Markers in Familial Mediterranean Fever
title_fullStr First and Second Trimester Biochemical Markers in Familial Mediterranean Fever
title_full_unstemmed First and Second Trimester Biochemical Markers in Familial Mediterranean Fever
title_short First and Second Trimester Biochemical Markers in Familial Mediterranean Fever
title_sort first and second trimester biochemical markers in familial mediterranean fever
topic pregnancy
colchicine
nuchal translucency
papp-a
afp
hcg
url http://www.ejmanager.com/fulltextpdf.php?mno=209972
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AT gulenaygencosmanoglu firstandsecondtrimesterbiochemicalmarkersinfamilialmediterraneanfever
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