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

Öz

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.

Anahtar Kelimeler

• invasive prenatal diagnosis
• maternal serum screening tests
• fetal ultrasonography
• chromosome aberrations

İSTANBUL’DA 1989-2011 YILLARI ARASINDA İNVAZİF PRENATAL TANININ KLİNİK VE SİTOGENETİK BULGULARINDAKİ DEĞİŞİKLİKLER; BİYOKİMYASAL TARAMA TESTLERİNİN VE FETAL ULTRASONOGRAFİNİN ETKİSİ

Öz

Amaç: İnvazif prenatal tanıda (IPT) maternal serum tarama testlerinin (MS-TT) ve fetal ultrasonografinin (USG) klinik ve sitogenetik bulgular üzerine olan etkisini belirlemek. Gereç ve Yöntem: 23 yıllık süreçte invazif girişimle elde edilen 23469 amniyosentez (AS) ve 2492 koryon villus aspirasyonu uygulama (KVA) sonuçları, 2000 yılı öncesi ve sonrası iki döneme ayrılarak karşılaştırıldı. Bulgular: İleri anne yaşı (İAY) ile başvuran olgu sayısı azalırken, MS-TT ve fetal USG endikasyonu ile başvuran olguların sayısında artma gözlendi. Kromozom anomali oranı KVA’da %10,1’den %17,6’ya ve AS’de %3,2’den %4,3’e yükseldi. Yaygın anöploidiler, KVA’da anomalilerin %69,6’sını (n=385) ve AS’de anomalilerin %65,1’ini (n=892) oluşturdu. Bilinen kromozom anomali taşıyıcıları hariç tutulduğunda, kromozomal yeniden düzenlemelerin oranı KVA’da %1,4 ve AS’de %1 idi. KVA’nun %1,7’sinde KVA ve AS arasında uyumsuz sitogenetik sonuçlar gözlendi. KVA’da gerçek/ olası gerçek mozaiklik, yalancı pozitif plasentayla sınırlı mozaisizm (PSM) ve yalancı negatif PSM oranı sırasıyla %1,02, %0,57 ve %0,49 bulundu.Sonuç: MS-TT ve USG’nin invazif girişim endikasyonları ve saptanan kromozom anomali oranları üzerinde ciddi etkilerinin olduğu görülmüştür. Elde edilen veriler, farklı risk gruplarında İPT ve noninvazif prenatal tarama ile ilgili daha doğru ve yararlı genetik danışmanlık için bir temel oluşturacaktır.

Anahtar Kelimeler

• İnvazif prenatal tanı
• Maternal serum tarama testleri
• fetal ultrasonografi
• kromozom anomalileri

Kaynakça

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