Emre EKMEKCİ, Özlem ÖZ, Ebru TUNCEZ, Fedi ERCAN, Emine DEMİR

Trizomi 13 ve 18 ile ilişkili prenatal sonografik bulgular; tek bir merkezde prenatal tanı konmuş olguların sunumu

Amaç: Bu retrospektif çalışmada trizomi 13 ve 18 olan fetüslerin prenatal sonografik bulgularını değerlendirmeyi amaçladık. Gereç ve Yöntem: Doğum öncesi 13 ve 18 trizomi tanısı konan fetusların sonografik bulguları, tek bir tersiyer perinatal merkezde iki yıllık dönemde retrospektif olarak incelendi. Her bir anöploidi için en yaygın bulgular tanımlandı. Bulgular: İki yıl boyunca toplam 13 olguya trizomi 13 veya 18 tanısı konuldu, bunlardan üçü trizomi 13 ve 10'u trizomi 18 idi. Trizomi 13 ile ilişkili majör sonografik anormallik holoprosensefali iken kardiyak anormallikler trizomi 18 için önde gelen bulgudur. Sonuç: Trizomi 13 ve 18, sonografik inceleme ile saptanabilecek majör prenatal sonografik bulgulara sahiptir. Fetal kardiyak ve santral sinir sistemi anormallikleri trizomi 13 ve 18 ile ilişkili başlıca başlıca bulgulardır.

Anahtar Kelimeler:

Trizomi 18, Trizomi 13, prenatal tanı

Prenatal sonographic findings associated with trisomy 13 and 18; report of prenatally diagnosed cases in a single center

Purpose: In this retrospective study, we aimed to evaluate the prenatal sonographic findings of the fetuses with trisomy 13 and 18. Materials and Methods: The sonographic findings of fetuses which were prenatally diagnosed as trisomy 13 and 18 were retrospectively reviewed in two years’ period at a single tertiary perinatal center. The most common findings for each aneuploidy were described. Results: Total 13 cases were diagnosed as trisomy 13 or 18 during two years’ period of which three cases were trisomy 13 and 10 cases were trisomy 18. Major sonographic abnormality associated with trisomy 13 was holoprosencephaly while cardiac abnormalities were the leading finding for trisomy 18. Conclusion: Trisomy 13 and 18 have major prenatal sonographic findings that may be detected with a targeted sonographic examination. Fetal cardiac and central nervous system abnormalities are the primary major findings associated with trisomy 13 and 18.

Keywords:

Trisomy 18, trisomy 13, prenatal diagnosis,

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