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<records>

  <record>
    <language>eng</language>
          <publisher>Oriental Scientific Publishing Company</publisher>
        <journalTitle>Biomedical and Pharmacology Journal</journalTitle>
          <issn>0974-6242</issn>
            <publicationDate>2026-05-13</publicationDate>
    
        <volume>19</volume>
        <issue>2</issue>

 
    <startPage></startPage>
    <endPage></endPage>

	    <publisherRecordId>71817</publisherRecordId>
    <documentType>article</documentType>
    <title language="eng">Prevalence of Trisomies 13,18 and 21 Detected by Cell-Free DNA-Based NIPT in Jordanian Prenatal Screening Cohort</title>

    <authors>
	 


      <author>
       <name>Yousef Al-Hajaya</name>

 
		
	<affiliationId></affiliationId>
      </author>
    

	

	

	


	


	
    </authors>
    
	    <affiliationsList>
	    
		
		<affiliationName affiliationId="1">Department of Biological Sciences, Faculty of Science, Mutah University, Karak, Jordan</affiliationName>
    

		
		
		
		
		
	  </affiliationsList>






    <abstract language="eng">Non-invasive prenatal testing (NIPT), a genetic test performed during pregnancy that analyzes cell-free fetal DNA (cfDNA), has become an integral component of prenatal screening for trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). Nevertheless, real-world data from Middle Eastern populations, particularly from Jordan, remain limited. The aim of this study is to evaluate the prevalence and distribution of trisomies 13,18, and 21 detected by NIPT in a regional prenatal screening population in Jordan. Additionally,to compare the observed distribution with contemporary international evidence reported in the current era of NIPT.This retrospective cohort analyzed 260 NIPT reports obtained from two medical laboratories in Jordan. Data extracted from laboratory records, including maternal age, gestational age at testing, fetal fraction, pregnancy type (IVF vs non-IVF), and screening outcomes for common autosomal trisomies (Trisomy 21, Trisomy 18, and Trisomy 13), and sex chromosome abnormalities. Screening outcomes were summarized using descriptive statistics. Welch’s t-test was used to compare groups. Mann-Whitney U test and Fisher’s exact test for continuous and categorical variables, respectively.Among 260 screened pregnancies, 250 (96.2%) were reported as low risk, whereas 10 (3.85%) were classified as high risk (screen-positive). Common autosomal trisomies (Trisomy 21, Trisomy 18, and Trisomy 13) accounted for nine cases (3.46%), while one case (0.38%) corresponded to a sex chromosome aneuploidy (47, XXY; Klinefelter syndrome). Of all results, trisomy 21 was the most frequently detected abnormality (1.92%) followed by trisomy 13 (1.15%) and trisomy 18 (0.38%).Mean fetal fraction was lower among screen-positive cases compared with low-risk cases (7.30% vs 10.02%, P = 0.005). However, using Mann-Whitney U test, this difference did not remain statistically significant (P = 0.082).No statistically significant association was detected between screening outcomes and IVF status or advanced maternal age.In this cohort, NIPT demonstrated screening outcomes consistent with global NIPT reports, with trisomy 21 as the most commonly identified abnormality. These results provide real-world evidence supporting the clinical integration of NIPT into prenatal screening settings in Middle Eastern populations, particularly in Jordan.</abstract>

    <fullTextUrl format="html">https://biomedpharmajournal.org/vol19no2/prevalence-of-trisomies-1318-and-21-detected-by-cell-free-dna-based-nipt-in-jordanian-prenatal-screening-cohort/</fullTextUrl>

<keywords language="eng">

      
        <keyword>Cell-free DNA</keyword>
      

      
        <keyword> Jordan</keyword>
      

      
        <keyword> NIPT</keyword>
      

      
        <keyword> Prenatal Care</keyword>
      

      
        <keyword>Trisomy 13</keyword>
      

      
        <keyword> Trisomy 18</keyword>
      

      
        <keyword> Trisomy 21</keyword>
      

      
        <keyword> Trisomy Prevalence</keyword>
      
</keywords>
  </record>
</records>