The potential of serum fetal DNA for early diagnosis of gestational trophoblastic disease.

Muhammed Hanifi Bademkıran,Hüseyin Çağlayan Özcan,Seyhun Sucu,Mehmet Obut,Fatma Bahar Cebesoy,Özcan Balat

doi:10.4274/tjod.galenos.2019.54815

Abstract

Objective:To study cell-free DNA (cfDNA) levels in patients with gestational trophoblastic disease (GTD) in order to test the hypothesis that cfDNA circulating in maternal plasma could provide early detection of GTD.Materials and Methods:This study included 32 patients with GTD (complete mole and partial mole) and 30 non-GTD patients in the first trimester of pregnancy with no other medical problems. cfDNA levels in maternal serum were measured using polymerase chain reaction analysis on Y-chromosome–specific sequences.Results:cfDNA was found as 327±367 pg on average in the control group and 600±535 pg in the GTD group. Within the GTD group, the partial mole group had an cfDNA average of 636±549 pg, and the complete mole group had an cfDNA average of 563±536 pg. Although there was a statistically significant difference between the GTD group and the control group in terms of cfDNA (p=0.02), there was no statistically significant difference between the complete mole group and the partial mole group (p=0.76).Conclusion:Non-parametric analysis of covariance in terms of cfDNA in GTD was performed, thereby increasing its power and revealing a significant difference compared with the control group. This indicates that maternal peripheral bloodstream cfDNA monitoring might be significant in the early diagnosis of GTD.

Highlights

Gestational trophoblastic disease (GTD) refers to a spectrum of disorders that result from abnormal proliferation of the trophoblastic epithelium
We studied cell-free DNA (cfDNA) levels in patients with gestational trophoblastic disease (GTD) in order to test the hypothesis that cfDNA circulating in maternal plasma could provide the early detection of GTD
This study measured the increase in cfDNA levels in GTD in order to test the hypothesis that cfDNA circulating in maternal plasma could provide early detection of GTD

Summary

Introduction

Gestational trophoblastic disease (GTD) refers to a spectrum of disorders that result from abnormal proliferation of the trophoblastic epithelium. Increased fetal DNA concentrations have so far been associated with a number of pregnancyrelated complications, and serum-free fetal DNA elevation has been detected in conditions including pre-eclampsia, preterm labor, invasive placenta, hyperemesis gravidarum, fetal growth restriction, fetomaternal hemorrhage, polyhydramnios, and single gene disorders such as achondroplasia, myotonic dystrophy, congenital adrenal hyperplasia, beta thalassemia, cystic fibrosis, and Huntington disease[7,8,9,10,11,12,13,14,15,16,17,18,19].

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Conclusion