Journal of Istanbul Faculty of Medicine

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Original Research


DOI :https://doi.org/10.18017/iuitfd.279883   IUP :https://doi.org/10.18017/iuitfd.279883    Full Text (PDF)

EVALUATION OF PERINATAL OUTCOMES OF PREGNANCIES HAVING INCREASED NUCHAL TRANSLUCENCY IN FIRST TRIMESTER SCREENING TEST AND NORMAL KARYOTYPE

Tuba Tarhan, Meryem Kürek Eken, Gülşah İlhan, Ateş Karateke

Objective: To assess the perinatal outcomes of fetuses having nuchal translucency (NT) greater than 2.5 mm and with normal karyotype.

Materials and Methods: Results of pregnancies with an increased nuchal translucency (95. percentile and above) in the first trimester screening test and those with karyotyping were examined retrospectively. Cases without chromosomal abnormalities were evaluated for the maternal age, obstetric and family history. Information about the outcomes of pregnancies and any abnormalities detected during pregnancy/ neonatal /infancy / childhood follow- ups were obtained by telephone interviews.

Results: A case that had 7.2 mm NT had been terminated due to major cardiovascular abnormalities. One fetus in twin pregnancy that had 2.8 mm NT resulted in missed abortion in 13 weeks of gestation and intrauterine growth restriction developed in the other euploid fetus and resulted in utero exitus at 23 weeks of gestation. Other two cases having 2.8 mm NT resulted in utero fetal demise at 16 weeks and 30 weeks. Another case having 3.9 mm NT who had mild pyelectasis had normal renal pelvic diameter in the neonatal period. Hypospadias was diagnosed postpartum in another fetus with 2.9 mm NT.

Conclusion: Even among fetuses with normal karyotype, NT > 95th percentiles may present an increased risk for in utero fetal death, major structural abnormalities, genetic syndromes and neurological developmental problems. Families should be informed about it and follow-up processes should be continued throughout the newborn, infancy and childhood period.

Keywords: Second trimester screening test, karyotype, nuchal translucency
DOI :https://doi.org/10.18017/iuitfd.279883   IUP :https://doi.org/10.18017/iuitfd.279883    Full Text (PDF)

NUKAL TRANSLUSENSİ ARTMIŞ VE KARYOTİPİ NORMAL GEBELİKLERDE PERİNATAL SONUÇLARIN DEĞERLENDİRİLMESİ

Tuba Tarhan, Meryem Kürek Eken, Gülşah İlhan, Ateş Karateke

Amaç: Çalışmamızda ilk trimester Down sendromu tarama testinde Nukal Translusensi (NT) ölçümü ≥ 95. persantil bulunan ancak genetik inceleme sonucunda normal karyotip saptanan gebeliklerin perinatal sonuçlarının değerlendirilmesi amaçlanmıştır.

Gereç ve Yöntem: İlk trimester tarama testinde NT ≥ 95. persantil saptanan ve karyotipleme yapılan hastaların sonuçları retrospektif olarak tarandı. Sayısal ya da yapısal kromozomal anomali saptanmamış olguların dosyalarından anne yaşı, obstetrik ve aile öyküsü bilgilerine ulaşıldı. Hastalarla telefon ile mülakat yapılarak gebeliğin nasıl sonuçlandığı, gebelik süresince ve yenidoğan/infant/çocukluk dönemi takiplerinde herhangi bir anormallik saptanıp saptanmadığı öğrenildi.

Bulgular: NT 7.2 mm bulunan bir olgunun detaylı fetal USG incelemesinde majör kardiyovasküler anomaliler saptanması nedeni ile termine edilmiş olduğu, NT 2.8 mm bulunan bir ikiz gebelikte fetuslardan birinde 13. haftada kalp atımının negatifleştiği, öploid olduğu saptanan diğer fetusta IUGR geliştiği ve 23. haftada in utero kayıp olduğu, NT 2.8 mm bulunan iki olgudan birinde 16. haftada, diğerinde 30. haftada in utero fetal kayıp yaşandığı, NT 3.9 mm bulunan ve hafif pyelektazi kaydedilmiş fetusun yenidoğan takiplerinde renal pelvis çaplarının normal sınırlara gerilediği görülmüştür. NT 2.9 mm bulunan başka bir fetusta ise doğum sonrası hipospadias saptanmış olduğu bilgisi edinilmiştir.

Sonuç: Genetik incelemede normal karyotipleme elde edilse bile NT 95. persantil ve üzerinde olan fetuslar in utero fetal kayıp, majör yapısal anomaliler, genetik sendromlar ve nörolojik gelişimsel sorunlar açısından yüksek risk taşıyabilirler. Aile bu konuda bilgilendirilmeli ve izlem süreci yenidoğan, infant, çocukluk dönemi boyunca devam etmelidir.

Keywords: İkili tarama testi, karyotip, nukal translusensi

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APA

Tarhan, T., Kürek Eken, M., İlhan, G., & Karateke, A. (2016). EVALUATION OF PERINATAL OUTCOMES OF PREGNANCIES HAVING INCREASED NUCHAL TRANSLUCENCY IN FIRST TRIMESTER SCREENING TEST AND NORMAL KARYOTYPE. Journal of Istanbul Faculty of Medicine, 79(3), 117-121. https://doi.org/https://doi.org/10.18017/iuitfd.279883


AMA

Tarhan T, Kürek Eken M, İlhan G, Karateke A. EVALUATION OF PERINATAL OUTCOMES OF PREGNANCIES HAVING INCREASED NUCHAL TRANSLUCENCY IN FIRST TRIMESTER SCREENING TEST AND NORMAL KARYOTYPE. Journal of Istanbul Faculty of Medicine. 2016;79(3):117-121. https://doi.org/https://doi.org/10.18017/iuitfd.279883


ABNT

Tarhan, T.; Kürek Eken, M.; İlhan, G.; Karateke, A. EVALUATION OF PERINATAL OUTCOMES OF PREGNANCIES HAVING INCREASED NUCHAL TRANSLUCENCY IN FIRST TRIMESTER SCREENING TEST AND NORMAL KARYOTYPE. Journal of Istanbul Faculty of Medicine, [Publisher Location], v. 79, n. 3, p. 117-121, 2016.


Chicago: Author-Date Style

Tarhan, Tuba, and Meryem Kürek Eken and Gülşah İlhan and Ateş Karateke. 2016. “EVALUATION OF PERINATAL OUTCOMES OF PREGNANCIES HAVING INCREASED NUCHAL TRANSLUCENCY IN FIRST TRIMESTER SCREENING TEST AND NORMAL KARYOTYPE.” Journal of Istanbul Faculty of Medicine 79, no. 3: 117-121. https://doi.org/https://doi.org/10.18017/iuitfd.279883


Chicago: Humanities Style

Tarhan, Tuba, and Meryem Kürek Eken and Gülşah İlhan and Ateş Karateke. “EVALUATION OF PERINATAL OUTCOMES OF PREGNANCIES HAVING INCREASED NUCHAL TRANSLUCENCY IN FIRST TRIMESTER SCREENING TEST AND NORMAL KARYOTYPE.” Journal of Istanbul Faculty of Medicine 79, no. 3 (Aug. 2025): 117-121. https://doi.org/https://doi.org/10.18017/iuitfd.279883


Harvard: Australian Style

Tarhan, T & Kürek Eken, M & İlhan, G & Karateke, A 2016, 'EVALUATION OF PERINATAL OUTCOMES OF PREGNANCIES HAVING INCREASED NUCHAL TRANSLUCENCY IN FIRST TRIMESTER SCREENING TEST AND NORMAL KARYOTYPE', Journal of Istanbul Faculty of Medicine, vol. 79, no. 3, pp. 117-121, viewed 14 Aug. 2025, https://doi.org/https://doi.org/10.18017/iuitfd.279883


Harvard: Author-Date Style

Tarhan, T. and Kürek Eken, M. and İlhan, G. and Karateke, A. (2016) ‘EVALUATION OF PERINATAL OUTCOMES OF PREGNANCIES HAVING INCREASED NUCHAL TRANSLUCENCY IN FIRST TRIMESTER SCREENING TEST AND NORMAL KARYOTYPE’, Journal of Istanbul Faculty of Medicine, 79(3), pp. 117-121. https://doi.org/https://doi.org/10.18017/iuitfd.279883 (14 Aug. 2025).


MLA

Tarhan, Tuba, and Meryem Kürek Eken and Gülşah İlhan and Ateş Karateke. “EVALUATION OF PERINATAL OUTCOMES OF PREGNANCIES HAVING INCREASED NUCHAL TRANSLUCENCY IN FIRST TRIMESTER SCREENING TEST AND NORMAL KARYOTYPE.” Journal of Istanbul Faculty of Medicine, vol. 79, no. 3, 2016, pp. 117-121. [Database Container], https://doi.org/https://doi.org/10.18017/iuitfd.279883


Vancouver

Tarhan T, Kürek Eken M, İlhan G, Karateke A. EVALUATION OF PERINATAL OUTCOMES OF PREGNANCIES HAVING INCREASED NUCHAL TRANSLUCENCY IN FIRST TRIMESTER SCREENING TEST AND NORMAL KARYOTYPE. Journal of Istanbul Faculty of Medicine [Internet]. 14 Aug. 2025 [cited 14 Aug. 2025];79(3):117-121. Available from: https://doi.org/https://doi.org/10.18017/iuitfd.279883 doi: https://doi.org/10.18017/iuitfd.279883


ISNAD

Tarhan, Tuba - Kürek Eken, Meryem - İlhan, Gülşah - Karateke, Ateş. “EVALUATION OF PERINATAL OUTCOMES OF PREGNANCIES HAVING INCREASED NUCHAL TRANSLUCENCY IN FIRST TRIMESTER SCREENING TEST AND NORMAL KARYOTYPE”. Journal of Istanbul Faculty of Medicine 79/3 (Aug. 2025): 117-121. https://doi.org/https://doi.org/10.18017/iuitfd.279883



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