Contemporary Outcomes of Chorionic Villus Sampling from the First Trimester to Neonatal Follow-Up
PDF

Özgün Araştırma

Contemporary Outcomes of Chorionic Villus Sampling from the First Trimester to Neonatal Follow-Up

Forbes J Med 2026;7(1):23-32 DOI: 10.4274/forbes.galenos.2026.37167
, , , , ,
PDF
İzin

Kaynakça

1

Öztürk FH, Öcal FD, Erol SA, et al. Fetal genetic diagnosis by chorionic villus sampling: evaluation of the five-year experience from a single center. Fetal Pediatr Pathol. 2021;40:281-9.

2

Practice Bulletin No. 162: Prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016;127:e108-e22.

3

Ghi T, Sotiriadis A, Calda P, et al; International Society of Ultrasound in Obstetrics and Gynecology (ISUOG). ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis. Ultrasound Obstet Gynecol. 2016;48:256-68.

4

Navaratnam K, Alfirevic Z; Royal College of Obstetricians and Gynaecologists. Amniocentesis and chorionic villus sampling: Green-top Guideline No. 8 July 2021: Green-top Guideline No. 8. BJOG. 2022;129:e1-e15.

5

Torun R, Sever B, Tuncer Can S, Sağlam C, Özer M, Emiralioğlu Çakır Z. Analysis of amniocentesis results in a tertiary care center: a retrospective cohort study. Forbes J Med. 2024;5:129-34.

6

Dikensoy E, Cebesoy FB, Öztürk E, Uğur MG, Balat Ö, Kutlar Aİ. Initial chorionic villus sampling results of Gaziantep University: one year analysis. Turk J Obstet Gynecol. 2010;7:267-72.

7

Jorge P, Mota-Freitas MM, Santos R, Silva ML, Soares G, Fortuna AM. A 26-year experience in chorionic villus sampling prenatal genetic diagnosis. J Clin Med. 2014;3:838-48.

8

Bilen E, Yüksel M, Köse S, Tola E, Sezik M. Gebeliğin 11-14 haftasında karyotipleme amaçlı koryon villüs biyopsisi: 42 olgunun değerlendirilmesi. Süleyman Demirel Üniversitesi Sağlık Bilimleri Dergisi. 2015;6:1-3.

9

Kuyucu M, Erdogan KM, Adiyaman D, et al. Consecutive 5-year outcomes of chorionic villus sampling at a tertiary center. Medicine (Baltimore). 2025;104:e41582.

10

Chevreau J, Becart L, Sergent F, Foulon A, Gondry J, Jedraszak G. Risk factors for failed chorionic villus sampling: results of a 4-year retrospective study. J Matern Fetal Neonatal Med. 2022;35:141-6.

11

Akolekar R, Beta J, Picciarelli G, Ogilvie C, D’Antonio F. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;45:16-26.

12

Martins AT, Francisco C, Correia H, Cohen Á. Chorionic villus sampling: 10 years of experience in a university referral center. J Gynecol Obstet Hum Reprod. 2020;49:101715.

13

Mujezinovic F, Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol. 2007;110:687-94. Erratum in: Obstet Gynecol. 2008;111:779.

14

AIUM-ACR-ACOG-SMFM-SRU practice parameter for the performance of standard diagnostic obstetric ultrasound examinations. J Ultrasound Med. 2018;37:E13-E24.

15

International Society of Ultrasound in Obstetrics and Gynecology; Bilardo CM, Chaoui R, Hyett JA, et al. ISUOG Practice Guidelines (updated): performance of 11-14-week ultrasound scan. Ultrasound Obstet Gynecol. 2023;61:127-43.

16

Sikkema-Raddatz B, Bouman K, Verschuuren-Bemelmans CC, et al. Four years’ cytogenetic experience with the culture of chorionic villi. Prenat Diagn. 2000;20:950-5.

17

Manegold-Brauer G, Kang Bellin A, Hahn S, et al. A new era in prenatal care: non-invasive prenatal testing in Switzerland. Swiss Med Wkly. 2014;144:w13915.

18

Manegold-Brauer G, Berg C, Flöck A, Rüland A, Gembruch U, Geipel A. Uptake of non-invasive prenatal testing (NIPT) and impact on invasive procedures in a tertiary referral center. Arch Gynecol Obstet. 2015;292:543-8.

19

Dungan JS, Klugman S, Darilek S, et al. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023;25:100336. Erratum in: Genet Med. 2023;25:100874.

20

Tuncer Can S, Golbasi H, Bayraktar B, et al. Prenatal findings and perinatal outcomes of rare autosomal trisomies: a retrospective cohort study. Fetal Pediatr Pathol. 2025;44:357-71.

21

Benn P, Malvestiti F, Grimi B, Maggi F, Simoni G, Grati FR. Rare autosomal trisomies: comparison of detection through cell-free DNA analysis and direct chromosome preparation of chorionic villus samples. Ultrasound Obstet Gynecol. 2019;54:458-67.

22

American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007;110:1459-67.

23

Beksaç MS, Unal C, Tanacan A, Fadiloglu E, Çakar AN. Chorionic villus sampling experience of a reference perinatal medicine center. Ann Hum Genet. 2020;84:229-34.

24

Hopkins MK, Dugoff L, Kuller JA. Spinal muscular atrophy: inheritance, screening, and counseling for the obstetric provider. Obstet Gynecol Surv. 2021;76:166-9.

25

Turkey SMA Foundation. For combating SMA disease and healthy tomorrows. Available from: https://www.sma.org.tr/en/carrier-scan

26

Sun Y, Kong X, Zhao Z, Zhao X. Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China. BMC Med Genet. 2020;21:133.

27

Shariati M, Davoudi A, Boostani R, et al. The prevalence of SMN gene deletion/duplication in spinal muscular atrophy families referred to neuro-genetic centers of Mashhad, Iran. Egypt J Med Hum Genet. 2024;25:87.

28

Mežnarić S, Belančić A, Rački V, Vitezić D, Mršić-Pelčić J, Pilipović K. Prenatal management of spinal muscular atrophy in the era of genetic screening and emerging opportunities in ın utero therapy. Biomedicines. 2025;13:1796.

29

Beksac MS, Yurter H, Tanacan A, et al. Gestational outcomes of pregnant women who have had invasive prenatal testing for the prenatal diagnosis of spinal muscular atrophy. S Afr J Obstet Gynaecol 2018;24:15.

30

Papp C, Beke A, Mezei G, Tóth-Pál E, Papp Z. Chorionic villus sampling: a 15-year experience. Fetal Diagn Ther. 2002;17:218-27.

31

Akolekar R, Bower S, Flack N, Bilardo CM, Nicolaides KH. Prediction of miscarriage and stillbirth at 11-13 weeks and the contribution of chorionic villus sampling. Prenat Diagn. 2011;31:38-45.

32

Zelig CM, Knutzen DM, Ennen CS, Dolinsky BM, Napolitano PG. Chorionic villus sampling, early amniocentesis, and termination of pregnancy without diagnostic testing: comparison of fetal risk following positive non-invasive prenatal testing. J Obstet Gynaecol Can. 2016;38:441-5.e2.

33

Movahedi M, Farahbod F, Zarean E, Hajihashemi M, Haghollahi F, Farahmand M. Evaluation of fetal and maternal outcomes in chorion villus sampling (CVS). Adv Biomed Res. 2023;12:133.

34

Shahbazian N, Barati M, Arian P, Saadati N. Comparison of complications of chorionic villus sampling and amniocentesis. Int J Fertil Steril. 2012;5:241-4.

35

Vera-Ponce VJ, Loayza-Castro JA, Ballena-Caicedo J, Valladolid-Sandoval LAM, Zuzunaga-Montoya FE, Gutierrez De Carrillo CI. Global prevalence of preeclampsia, eclampsia, and HELLP syndrome: a systematic review and meta-analysis. Front Reprod Health. 2025;7:1706009.

36

Kim N, Joo EH, Kim S, et al. Comparative analysis of obstetric, perinatal, and neurodevelopmental outcomes following chorionic villus sampling and amniocentesis. Front Med (Lausanne). 2024;11:1407710.