Araştırma Makalesi
Retrospective analysis of cases diagnosed with first trimester cystic hygroma; single center experiences
Öz
Aim: Cystic hygroma is a congenital anomaly diagnosed in the first trimester or early second trimester of antenatal life, often accompanied by fluid collection around the neck, less commonly around the mediastinum or abdomen. The aim of this study is to evaluate cases of cystic hygroma diagnosed in our clinic and to analyze their results in terms of structural anomalies and genetic abnormalities.
Materials and Methods: Twenty-two patients diagnosed with cystic hygroma among those referred to our clinic in the last two years were included in our study. Chorionic villus sampling or amniocentesis was performed on 13 patients who consented to invasive diagnostic testing, according to the appropriate week interval. Patients who did not consent were placed under antenatal ultrasound follow-up.
Results: Medical termination was applied to 6 patients with genetic or structural anomalies, and 5 of them resulted in spontaneous abortion or missed abortion. Chromosomal evaluation and microarray analysis were performed on one of the cases through amniocentesis, which was found to be normal. The case underwent resolution during antenatal follow-up and delivered a healthy baby at term.
Conclusion: Babies diagnosed with congenital cystic hygroma are at risk for structural anomalies, congenital heart diseases, skeletal dysplasia, and genetic disorders, therefore requiring careful monitoring by perinatology, genetics, and neonatal units. The presence of structural anomalies determines the prognosis of babies with normal genetics.
Anahtar Kelimeler
Kaynakça
- Bennasar M, Arigita M, Salazar L, Puerto B. 2018. Cystic hygroma. In: Copel JA, D’Alton ME, Tutschek B, editors. Obstetric imaging: fetal diagnosis and care book. 2nd ed. p. 331–333.e1.
- Kadam RM, Kumar AN, Prasad VS V, Boda S. Giant Cervico-Thoracic Cystic Hygroma in a Preterm: A Case Report. J Neonatal Surg. 2017 Aug 17;6(3):66.
- KOÇ RH, AKİDİL AÖ, GÜNEŞ S, SAYIN İ, YAZICI ZM. Rare Neck Mass in Adult Age: Cystic Hygroma. Kulak Burun Boğaz ve Baş Boyun Cerrahisi Dergisi. 2020;28(2):152–5.
- CANBEY GÖRET, C., (2018). Literatür eşliğinde 36 fetal otopsi sonuçlarının değerlendirilmesi: Retrospektif klinik çalışma. Bozok Med J , vol.8, no.1, 82-85. .
- Scholl J, Durfee SM, Russell MA, Heard AJ, Iyer C, Alammari R, et al. First-trimester cystic hygroma: Relationship of nuchal translucency thickness and outcomes. Obstetrics and Gynecology. 2012 Sep;120(3):551–9.
- Gezdirici A, Ekiz A, Güleç EY, Kaya B, Sezer S, Atış Aydın A. How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype? Journal of Maternal-Fetal and Neonatal Medicine. 2017 Apr 18;30(8):938–41.
- Munteanu O, Cîrstoiu MM, Filipoiu M, Bohîlţea RE, Bulescu A, Berceanu C. C CA AS SE E R RE EP PO OR RT TS S Morphological and ultrasonographic study of fetuses with cervical hygroma. A cases series. Rom J Morphol Embryol [Internet]. 2016;57(4):1421–7. Available from: http://www.rjme.ro/
- Chen CP, Liu FF, Jan SW, Lee CC, Town DD, Lan CC. Cytogenetic evaluation of cystic hygroma associated with hydrops fetalis, oligohydramnios or intrauterine fetal death: The roles of amniocentesis, postmortem chorionic villus sampling and cystic hygroma paracentesis. Acta Obstet Gynecol Scand. 1996;75(5):454–8.
- Tanriverdi HA, Hendrik HJ, Ertan AK, Axt R, Schmidt W. Hygroma Colli Cysticum: Prenatal Diagnosis and Prognosis. Vol. 18, American Journal of Perinatology. 2001.
- Graesslin O, Derniaux E, Alanio E, Gaillard D, Vitry F, Quéreux C, et al. Characteristics and outcome of fetal cystic hygroma diagnosed in the first trimester. Acta Obstet Gynecol Scand. 2007;86(12):1442–6.
- Schreurs L, Lannoo L, De Catte L, Van Schoubroeck D, Devriendt K, Richter J. First trimester cystic hygroma colli: Retrospective analysis in a tertiary center. European Journal of Obstetrics and Gynecology and Reproductive Biology. 2018 Dec 1;231:60–4.
- Yakıştıran B, Altınboğa O, Canpolat E, Çakar EŞ, Çelen Ş, Çağlar AT, et al. Analysis of cystic hygroma diagnosed in the first trimester: Single-center experience. Journal of the Turkish German Gynecology Association. 2020;21(2):107–10.
- Demir SS, Cagliyan E, Öztürk D, Özmen S, Altunyurt S, Çankaya T, et al. Prenatal diagnosis of cystic hygroma cases in a tertiary centre and retrospective analysis of pregnancy results. J Obstet Gynaecol (Lahore). 2022;42(7):2899–904.
- Yakistiran1 B, Yakistiran B. Prenatal Diagnosis and Fetal Outcomes of Cystic Hygroma: Experience of a Tertiary Hospital. Obstetrics; Maternal-Fetal Medicine and Perinatology Gynecol Obstet Reprod Med [Internet]. 2019;25(1):4–6. Available from: www.gorm.com.tr
- Croonen EA, Nillesen WM, Stuurman KE, Oudesluijs G, Van De Laar IMBM, Martens L, et al. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. European Journal of Human Genetics. 2013 Sep;21(9):936–42.
- Tayyar A, Tayyar A, Tayyar M. Prenatal management of cystic hygroma and long term outcomes. Medicine Science | International Medical Journal. 2017;1.
- Malone FD, Ball RH, Nyberg DA, Comstock CH, Saade GR, Berkowitz RL, et al. First-Trimester Septated Cystic Hygroma Prevalence, Natural History, and Pediatric Outcome Level of Evidence: II-2. Vol. 106, Obstet Gynecol. 2005.
- Özcan HÇ, Uğur MG, Balat Ö, Sucu S, Bayramoğlu Tepe N, Öztürk E, et al. Analysis of cystic hygroma diagnosed in the prenatal period: 5-years’ experience at a tertiary hospital in Southeastern Turkey. Journal of Maternal-Fetal and Neonatal Medicine. 2019 Jun 3;32(11):1800–5.
- Liu X, Wang J, Yang M, Tian T, Hu T. Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with SOX9 deletion. Front Genet. 2022 Aug 29;13.
- Holzgreve W, Wapner RJ, Heeger S, Evans MI. First-trimester simple hygroma: Cause and outcome. Am J Obstet Gynecol. 1993;168(1):156–61.
- Chen CP, Chen SW, Wu FT, Pan YT, Wang W. Spontaneous resolution of septated cystic hygroma with a severely increased nuchal translucency thickness of 5.8 mm detected in the first-trimester in a pregnancy with no abnormalities in chromosomal, microarray and whole exome sequencing analyses and a favorable fetal outcome. Taiwan J Obstet Gynecol. 2022 Nov 1;61(6):1088–9.
- Noia G, Pellegrino M, Masini L, Visconti D, Manzoni C, Chiaradia G, et al. Fetal cystic hygroma: The importance of natural history. European Journal of Obstetrics and Gynecology and Reproductive Biology. 2013;170(2):407–13.
- Almonacid I, Zuleta P, Neri C, Zannin A, Garzon M, Dorado J, et al. (2020). Cystic hygroma and the importance of the prenatal diagnosis: about a case. BAG Journal of Basic and Applied Genetics 31:39–44.
- Arévalo Suárez YA, Espinosa Benítez QL, Masabanda Poaquiza PE, Rodríguez Gamboa MS, Venegas MB. Cystic hygroma and the importance in its prenatal diagnosis. Sapienza: International Journal of Interdisciplinary Studies. 2023 Jul 30;4(SI1):e23041.
- Behera S, Bawa M, kanojia RP, Saha PK, Singh T, Samujh R. Outcome of antenatally diagnosed cystic hygroma - Lessons learnt. Int J Pediatr Otorhinolaryngol. 2020 Nov 1;138:110227.
- Surerus E, Huggon IC, Allan LD. Turner’s syndrome in fetal life. Ultrasound in Obstetrics and Gynecology. 2003 Sep 1;22(3):264–7.
- Chen CP, Chen SW, Wu FT, Pan YT, Wang W. Spontaneous resolution of septated cystic hygroma with a severely increased nuchal translucency thickness of 5.8 mm detected in the first-trimester in a pregnancy with no abnormalities in chromosomal, microarray and whole exome sequencing analyses and a favorable fetal outcome. Taiwan J Obstet Gynecol. 2022 Nov 1;61(6):1088–9.
Yıl 2025,
Cilt: 64 Sayı: 1, 159 - 165, 12.03.2025
Öz
Amaç: Kistik higroma antenatal yaşamın ilk trimesterinde veya erken ikinci trimesterde tanı konulan, sıklıkla boyun, daha nadir mediasten veya abdomen çevresinde sıvı koleksiyonu ile izlenen konjenital bir anomalidir. Bu çalışmamızın amacı kliniğimizde tanı konulan kistik higroma olgularını değerlendirmek yapısal anomaliler, genetik anomaliler açısından sonuçlarını analiz etmektir.
Gereç ve Yöntem: Kliniğimize son iki yılda refere edilmiş hastalar arasından kistik higroma tanısı alan 22 hasta çalışmamıza dahil edilmiştir. Hastalarımızdan invaziv tanı testine izin veren 13 hastaya uygun hafta aralığına göre koryon villus örneklemesi veya amniyosentez uygulanmıştır. İzin vermeyen hastalar antenatal ultrasonografi takibine alınmıştır.
Bulgular: Genetik veya yapısal anomalisi olan 6 hastaya tıbbi tahliye uygulanmış 5 tanesi spontane abort veya missed olmuştur. Vakalardan bir tanesine amniyosentez işlemiyle kromozomal değerlendirme ve microarray analizi yapılmış ve normal bulunmuştur, antenatal takipte rezolüsyona uğramış ve miadında sağlıklı bir bebek doğurmuştur.
Sonuç: Konjenital kistik higroma tanısı konulan bebekler yapısal anomaliler, konjenital kalp hastalıkları, iskelet displazileri ve genetik hastalıklar açısından risk altındadır bu nedenle bu olguların perinatoloji genetik ve yenidoğan birimleri tarafından dikkatli takip edilmesi gerekmektedir. Genetiği normal olan bebeklerin prognozunu yapısal anomalilerin varlığı belirlemektedir.
Anahtar Kelimeler
Etik Beyan
Etik Komite Onayı: Türkiye, Elazığ'da bulunan Bölgesel Etik Komitesi (Protokol no. 23402 2024/03)
Kaynakça
- Bennasar M, Arigita M, Salazar L, Puerto B. 2018. Cystic hygroma. In: Copel JA, D’Alton ME, Tutschek B, editors. Obstetric imaging: fetal diagnosis and care book. 2nd ed. p. 331–333.e1.
- Kadam RM, Kumar AN, Prasad VS V, Boda S. Giant Cervico-Thoracic Cystic Hygroma in a Preterm: A Case Report. J Neonatal Surg. 2017 Aug 17;6(3):66.
- KOÇ RH, AKİDİL AÖ, GÜNEŞ S, SAYIN İ, YAZICI ZM. Rare Neck Mass in Adult Age: Cystic Hygroma. Kulak Burun Boğaz ve Baş Boyun Cerrahisi Dergisi. 2020;28(2):152–5.
- CANBEY GÖRET, C., (2018). Literatür eşliğinde 36 fetal otopsi sonuçlarının değerlendirilmesi: Retrospektif klinik çalışma. Bozok Med J , vol.8, no.1, 82-85. .
- Scholl J, Durfee SM, Russell MA, Heard AJ, Iyer C, Alammari R, et al. First-trimester cystic hygroma: Relationship of nuchal translucency thickness and outcomes. Obstetrics and Gynecology. 2012 Sep;120(3):551–9.
- Gezdirici A, Ekiz A, Güleç EY, Kaya B, Sezer S, Atış Aydın A. How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype? Journal of Maternal-Fetal and Neonatal Medicine. 2017 Apr 18;30(8):938–41.
- Munteanu O, Cîrstoiu MM, Filipoiu M, Bohîlţea RE, Bulescu A, Berceanu C. C CA AS SE E R RE EP PO OR RT TS S Morphological and ultrasonographic study of fetuses with cervical hygroma. A cases series. Rom J Morphol Embryol [Internet]. 2016;57(4):1421–7. Available from: http://www.rjme.ro/
- Chen CP, Liu FF, Jan SW, Lee CC, Town DD, Lan CC. Cytogenetic evaluation of cystic hygroma associated with hydrops fetalis, oligohydramnios or intrauterine fetal death: The roles of amniocentesis, postmortem chorionic villus sampling and cystic hygroma paracentesis. Acta Obstet Gynecol Scand. 1996;75(5):454–8.
- Tanriverdi HA, Hendrik HJ, Ertan AK, Axt R, Schmidt W. Hygroma Colli Cysticum: Prenatal Diagnosis and Prognosis. Vol. 18, American Journal of Perinatology. 2001.
- Graesslin O, Derniaux E, Alanio E, Gaillard D, Vitry F, Quéreux C, et al. Characteristics and outcome of fetal cystic hygroma diagnosed in the first trimester. Acta Obstet Gynecol Scand. 2007;86(12):1442–6.
- Schreurs L, Lannoo L, De Catte L, Van Schoubroeck D, Devriendt K, Richter J. First trimester cystic hygroma colli: Retrospective analysis in a tertiary center. European Journal of Obstetrics and Gynecology and Reproductive Biology. 2018 Dec 1;231:60–4.
- Yakıştıran B, Altınboğa O, Canpolat E, Çakar EŞ, Çelen Ş, Çağlar AT, et al. Analysis of cystic hygroma diagnosed in the first trimester: Single-center experience. Journal of the Turkish German Gynecology Association. 2020;21(2):107–10.
- Demir SS, Cagliyan E, Öztürk D, Özmen S, Altunyurt S, Çankaya T, et al. Prenatal diagnosis of cystic hygroma cases in a tertiary centre and retrospective analysis of pregnancy results. J Obstet Gynaecol (Lahore). 2022;42(7):2899–904.
- Yakistiran1 B, Yakistiran B. Prenatal Diagnosis and Fetal Outcomes of Cystic Hygroma: Experience of a Tertiary Hospital. Obstetrics; Maternal-Fetal Medicine and Perinatology Gynecol Obstet Reprod Med [Internet]. 2019;25(1):4–6. Available from: www.gorm.com.tr
- Croonen EA, Nillesen WM, Stuurman KE, Oudesluijs G, Van De Laar IMBM, Martens L, et al. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. European Journal of Human Genetics. 2013 Sep;21(9):936–42.
- Tayyar A, Tayyar A, Tayyar M. Prenatal management of cystic hygroma and long term outcomes. Medicine Science | International Medical Journal. 2017;1.
- Malone FD, Ball RH, Nyberg DA, Comstock CH, Saade GR, Berkowitz RL, et al. First-Trimester Septated Cystic Hygroma Prevalence, Natural History, and Pediatric Outcome Level of Evidence: II-2. Vol. 106, Obstet Gynecol. 2005.
- Özcan HÇ, Uğur MG, Balat Ö, Sucu S, Bayramoğlu Tepe N, Öztürk E, et al. Analysis of cystic hygroma diagnosed in the prenatal period: 5-years’ experience at a tertiary hospital in Southeastern Turkey. Journal of Maternal-Fetal and Neonatal Medicine. 2019 Jun 3;32(11):1800–5.
- Liu X, Wang J, Yang M, Tian T, Hu T. Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with SOX9 deletion. Front Genet. 2022 Aug 29;13.
- Holzgreve W, Wapner RJ, Heeger S, Evans MI. First-trimester simple hygroma: Cause and outcome. Am J Obstet Gynecol. 1993;168(1):156–61.
- Chen CP, Chen SW, Wu FT, Pan YT, Wang W. Spontaneous resolution of septated cystic hygroma with a severely increased nuchal translucency thickness of 5.8 mm detected in the first-trimester in a pregnancy with no abnormalities in chromosomal, microarray and whole exome sequencing analyses and a favorable fetal outcome. Taiwan J Obstet Gynecol. 2022 Nov 1;61(6):1088–9.
- Noia G, Pellegrino M, Masini L, Visconti D, Manzoni C, Chiaradia G, et al. Fetal cystic hygroma: The importance of natural history. European Journal of Obstetrics and Gynecology and Reproductive Biology. 2013;170(2):407–13.
- Almonacid I, Zuleta P, Neri C, Zannin A, Garzon M, Dorado J, et al. (2020). Cystic hygroma and the importance of the prenatal diagnosis: about a case. BAG Journal of Basic and Applied Genetics 31:39–44.
- Arévalo Suárez YA, Espinosa Benítez QL, Masabanda Poaquiza PE, Rodríguez Gamboa MS, Venegas MB. Cystic hygroma and the importance in its prenatal diagnosis. Sapienza: International Journal of Interdisciplinary Studies. 2023 Jul 30;4(SI1):e23041.
- Behera S, Bawa M, kanojia RP, Saha PK, Singh T, Samujh R. Outcome of antenatally diagnosed cystic hygroma - Lessons learnt. Int J Pediatr Otorhinolaryngol. 2020 Nov 1;138:110227.
- Surerus E, Huggon IC, Allan LD. Turner’s syndrome in fetal life. Ultrasound in Obstetrics and Gynecology. 2003 Sep 1;22(3):264–7.
- Chen CP, Chen SW, Wu FT, Pan YT, Wang W. Spontaneous resolution of septated cystic hygroma with a severely increased nuchal translucency thickness of 5.8 mm detected in the first-trimester in a pregnancy with no abnormalities in chromosomal, microarray and whole exome sequencing analyses and a favorable fetal outcome. Taiwan J Obstet Gynecol. 2022 Nov 1;61(6):1088–9.
Toplam 27 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | Kadın Hastalıkları ve Doğum |
| Bölüm | Araştırma Makaleleri |
| Yazarlar | |
| Yayımlanma Tarihi | 12 Mart 2025 |
| Gönderilme Tarihi | 16 Nisan 2024 |
| Kabul Tarihi | 5 Aralık 2024 |
| Yayımlandığı Sayı | Yıl 2025Cilt: 64 Sayı: 1 |
