Amniotic Fluid Ischemia Modified Albumin as a Novel e Prenatal Diagnostic Marker for Down Syndrome

NCT ID: NCT04293380

Last Updated: 2020-12-17

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 94 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2012-03-01
• Study Completion Date: 2016-09-01

Brief Summary

Down syndrome is the most common genetic disorder in the society that causes mental retardation. Today, screening tests (combined test, triple screening, ultrasonography and age) are performed for the diagnosis of down syndrome for all pregnant women. As a result of screening tests, amniocentesis is performed as a diagnostic test for the group at risk. Chromosome analysis from amniotic fluid requires a 3-week period for chromosome cultures to yield results. Several levels of biochemical markers, such as organic acids and pyridoxine metabolites, have been found to be elevated in the amniotic fluid. The investigators also plan to investigate ischemia-modified albumin, hepatocyte growth factor level in amniotic fluid.

Detailed Description

The alpha feto protein level showing liver function is lower in babies with Down syndrome and this biochemical marker is one of the basic parameters of triple screening.

If these babies have insufficient liver function, then it is likely that there is a decrease in hepatocyte growth factor in these babies. Free E3 is higher in Down syndrome than normal pregnant women. Placental hyperfunction, fetal hypofunction (especially based on fetal liver) is accepted as the hypothetical cause of these two conditions in Down syndrome. In this study, the investigators think that the real cause of this condition is secondary to fetal partial hypoxia. For this purpose, the investigators plan to look at the level of IMA in amniotic fluid. However, Güven et al. In his study, an increased rate of ischemia-modified albumin was found in the amnion levels of mothers who had high triple screening tests but had no down syndrome in their babies. In this study, it is aimed to find a change in amniotic fluid that can help in the diagnosis of down syndrome. In our opinion, in cases of down syndrome, there will be an increase in IMA in the amniotic fluid secondary to ischemia, which is more severe than the false triple test positivity.

In our university, chromosome analyzes are made from amnion fluids sent to the Duzen laboratory. This laboratory hides amniotic fluid of patients with down syndrome (in the context of an agreement between our university and the laboratory). Within the scope of the research, amniotic fluids of 20 cases diagnosed with down syndrome in the Department of Obstetrics and Gynecology of KTU Faculty of Medicine will be obtained from the regulation laboratory and necessary biochemical evaluations will be performed. As the control group, amniotic fluids will be provided by 60 patients with normal amniocentesis results. The demographic factor, obstetric history and gynecological history information of all cases will be recorded in the questionnaire prepared by one of the researchers. 2 cc amnion sample of the patients with Down syndrome diagnosis and control group will be taken into the biochemistry tube and serum IMA and HGF values will be measured in KTU Faculty of Medicine, Department of Biochemistry. As a result, amnion IMA, HGF values of 20 cases diagnosed with down syndrome and amnion IMA, HGF values of 60 cases with down syndrome will be entered into SPSS 10.5 for Windows environment and their mean values will be compared.

According to the results, amniotic fluid IMA values of the study group and control group will be compared. Thus, it is aimed to eliminate the burden that the chromosome culture will bring to the national economy with an evaluation made in a routine laboratory in cases diagnosed with down syndrome.

Conditions

Down Syndrome; Prenatal Stress; Cytokines

Keywords

Down Syndrome; Prenatally; ischemic modified album; cytokines; amniyosyntesis

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: CROSSOVER
• Primary Study Purpose: DIAGNOSTIC
• Blinding Strategy: SINGLE

Study Groups

normal karyotype

During the prenatal evaluation, IMA and cytokine values in amniotic fluid will be compared in cases with down syndrome and normal karyotype.

Group Type: OTHER

amniosyntesis

Intervention Type: PROCEDURE

down syndrome

During the prenatal evaluation, IMA and cytokine values in amniotic fluid will be compared in cases with down syndrome and normal karyotype.

Group Type: OTHER

amniosyntesis

Intervention Type: PROCEDURE

Interventions

amniosyntesis

Intervention Type: PROCEDURE

Eligibility Criteria

Inclusion Criteria

• 20 cases diagnosed with down syndrome in the Duzen laboratory chromosome culture
• 74 cases which are normal in the Duzen laboratory chromosome culture

Exclusion Criteria

• absent

• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: Yes

Sponsors

Karadeniz Technical University

OTHER

Sponsor Role: lead

Responsible Party

Suleyman Guven

professor

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

suleyman guven, professor

Role: PRINCIPAL_INVESTIGATOR

karadeniz thecnical universty

erhan huseyın comert

Role: STUDY_CHAIR

gole goverment hospital

emine seda guvendag guven

Role: STUDY_CHAIR

karadeniz thecnical universty

Locations

Karadeniz Technical Universty Medical School

Trabzon, , Turkey (Türkiye)

Countries

Turkey (Türkiye)

Other Identifiers

suleymanG

Identifier Type: -

Identifier Source: org_study_id