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- Title
CHANGES IN CLINICAL AND CYTOGENETIC FINDINGS OF INVASIVE PRENATAL DIAGNOSIS FROM 1989 TO 2011 IN ISTANBUL; IMPACT OF THE BIOCHEMICAL SCREENING TESTS AND FETAL ULTRASONOGRAPHY.
- Authors
BAŞARAN, Seher; KARAMAN, Birsen; KIRGIZ, Melike; KALELİOĞLU, İbrahim Halil; HAS, Recep; DEHGAN, Tahir; YILDIRIM, Alkan; TOKSOY, Güven; YÜKSEL, Atıl
- Abstract
Objective: To determine the impact of maternal serum screening tests (MS-STs) and ultrasonography (US) on clinical and cytogenetic findings in invasive prenatal diagnosis (IPD) Material and Method: Results of 23469 amniocentesis (AC) and 2492 chorionic villus sampling (CVS) obtained over 23 years were compared with regard to two periods; before and after year 2000. Results: Cases with advanced maternal age (AMA) decreased, while MS-STs and fetal US increased in the timeline. The rate of chromosome aberration increased from 10.1% to 17.6% in CVS and from 3.2% to 4.3% in AC. The common aneuploidies summed up to 69.6% of anomalies (n=385) in CVS and 65.1% of anomalies (n=892) in AC. When known parental carriers were excluded, the rate of chromosomal rearrangements was 1.4% in CVS and 1% in AC. Discrepant cytogenetic results between CVS and AC were observed in 1.7% of CVS. The rate of true/possible true mosaicism, false-positive confined placental mosaicism (CPM) and false-negative CPM was 1.02%, 0.57% and 0.49% in CVS, respectively. Conclusion: MS-ST and US had a serious impact on the indications for invasive procedures and the rates of chromosome aberrations. The presented data will establish a baseline for better genetic counseling regarding IPD and noninvasive PD (NIPD) in different risk groups.
- Subjects
ISTANBUL (Turkey); FETAL ultrasonic imaging; INVASIVE diagnosis; PRENATAL diagnosis; CHORIONIC villus sampling; CHROMOSOME abnormalities
- Publication
Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2020, Vol 83, Issue 4, p315
- ISSN
1305-6441
- Publication type
Article
- DOI
10.26650/IUITFD.2020.0074