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Surgery on Children

Surgery on Children Journal aims to publish issues related to Pediatric Surgery, Pediatric Neurosurgery, Pediatric Plastic Surgery, Pediatric Cardiovascular Surgery, Pediatric Orthopedic Surgery, Pediatric Vascular Surgery, Pediatric Gynecology and Obstetrics, Pediatric Ear Nose Throat, Ophthalmology, Pediatric Anesthesiology and Reanimation, Pediatric Urology, Pediatric Surgical Intensive Care Clinic, and other clinical surgery fields on children of the highest scientific and clinical value at an international level and accepts articles on these topics.

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A broad outline of the principles in evaluation and management of prenatally detected fetal anomalies
Abstract
The recent advances in prenatal diagnosis and widespread adoption of fetal imaging have increased the detection of fetal anomalies. The availability of maternal screening investigations and newer methods of genetic testing have further added to the diagnostic spectrum. The abnormalities can range from minor alterations of uncertain significance to major defects with grave prognosis. The evaluation and management of prenatally detected fetal anomalies constitute a challenging problem. The optimal outcome for the fetus and the mother depends on the accurate diagnosis, appropriate evaluation, and informed, scientific decision-making regarding prenatal, perinatal and postnatal management. The establishment of definite clinical practice guidelines for screening, diagnosis and therapy are mandatory to bring clarity to management. A deep understanding of the natural history of these disorders, their evolution during gestation and the effect on the mother, fetus and the pregnancy are critical to the optimal management of these conditions.

Keywords : Fetal diagnosis, prenatal diagnosis, maternal screening, fetal genetic testing, fetal diagnostic testing, fetal therapy, perinatal management, termination of pregnancy for fetal anomaly

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1. Centers for disease control and prevention (CDC). Update on overall prevalence of major birth defects--Atlanta, Georgia, 1978-2005. MMWR Morb Mortal Wkly Rep. 2008;57(1):1-5.
2. Practice Bulletin No. 163: screening for fetal aneuploidy.Obstet Gynecol. 2016;127(5):e123-e137. doi:10.1097/AOG.0000000000001406
3. Practice Bulletin No. 162: prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016;127(5):e108-e122. doi:10.1097/AOG. 0000000000001405
4. Committee Opinion No. 640: cell-free DNA screening for fetal aneuploidy. Obstet Gynecol. 2015;126(3):e31-e37. doi:10.1097/AOG. 0000000000001051
5. Bianchi DW. Fetology?: diagnosis and management of the fetal patient. 2nd ed. McGraw-Hill Medical. 2010.
6. Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2015;45(3):249-266. doi:10.1002/uog.14791
7. ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007;109(1):217-227. doi:10.1097/00006250-200701000-00054
8. Nicolaides KH, Azar G, Byrne D, Mansur C, Marks K. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ. 1992;304(6831):867-869. doi:10.1136/bmj. 304.6831.867
9. Malone FD, Canick JA, Ball RH, et al. First-trimester or second-trimester screening, or both, for Down’s syndrome.N Engl J Med. 2005; 353(19):2001-2011. doi:10.1056/NEJMoa043693
10. Conde-Agudelo A, Kafury-Goeta AC. Triple-marker test as screening for Down syndrome: a meta-analysis. Obstet Gynecol Surv. 1998;53(6): 369-376. doi:10.1097/00006254-199806000-00022
11. Vayna AM, Veduta A, Duta S, et al. Diagnosis of fetal structural anomalies at 11 to 14 weeks. J Ultrasound Med. 2018;37(8):2063-2073. doi:10.1002/jum.14561
12. Paladini D, Volpe P. Ultrasound of congenital fetal anomalies: differential diagnosis and prognostic indicators. CRC press. 2018.
13. Salomon LJ, Alfirevic Z, Berghella V, et al. Practice guidelines for performance of the routine mid-trimester fetal ultrasound scan.Ultrasound Obstet Gynecol. 2011;37(1):116-126. doi:10.1002/uog.8831
14. Colby CE, Carey WA, Blumenfeld YJ, Hintz SR. Infants with prenatally diagnosed anomalies: special approaches to preparation and resuscitation. Clin Perinatol. 2012;39(4):871-887. doi:10.1016/j.clp.2012.09.012
15. Wataganara T, Grunebaum A, Chervenak F, Wielgos M. Delivery modes in case of fetal malformations. J Perinat Med. 2017;45(3):273-279. doi:10.1515/jpm-2015-0364
16. Douglas Wilson R, Van Mieghem T, Langlois S, Church P. Guideline No. 410: prevention, screening, diagnosis, and pregnancy management for fetal neural tube defects. J Obstet Gynaecol Can. 2021;43(1):124-139.e8. doi:10.1016/j.jogc.2020.11.003
17. Sanapo L, Moon-Grady AJ, Donofrio MT. Perinatal and delivery management of infants with congenital heart disease. Clin Perinatol. 2016;43(1):55-71. doi:10.1016/j.clp.2015.11.004
18. Bielicki IN, Somme S, Frongia G, Holland-Cunz SG, Vuille-Dit-Bille RN. Abdominal wall defects-current treatments. Children (Basel). 2021; 8(2):170. doi:10.3390/children8020170
19. Segel SY, Marder SJ, Parry S, Macones GA. Fetal abdominal wall defects and mode of delivery: a systematic review. Obstet Gynecol. 2001;98(5 Pt 1):867-873. doi:10.1016/s0029-7844(01)01571-x
20. Kashyap A, DeKoninck P, Crossley K, et al. Antenatal medical therapies to improve lung development in congenital diaphragmatic hernia.Am J Perinatol. 2018;35(9):823-836. doi:10.1055/s-0037-1618603
21. Bradshaw CJ, Thakkar H, Knutzen L, et al. Accuracy of prenatal detection of tracheoesophageal fistula and oesophageal atresia. J Pediatr Surg. 2016;51(8):1268-1272. doi:10.1016/j.jpedsurg.2016.02.001
22. D’Eufemia MD, Cianci S, Di Meglio F, et al. Congenital high airway obstruction syndrome (CHAOS): discussing the role and limits of prenatal diagnosis starting from a single-center case series. J Prenat Med. 2016;10(1-2):4-7. doi:10.11138/jpm/2016.10.1.004
23. Okada T, Sasaki F, Cho K, et al. Management and outcome in prenatally diagnosed sacrococcygeal teratomas. Pediatr Int. 2008;50(4):576-580. doi:10.1111/j.1442-200X.2008.02703.x
24. Sinha A, Bagga A, Krishna A, et al. Revised guidelines on management of antenatal hydronephrosis. Indian J Nephrol. 2013;23(2):83-97. doi:10. 4103/0971-4065.109403
25. Society for Maternal-Fetal Medicine (SMFM). Electronic address: [email protected], Norton ME, Cheng Y, et al. SMFM fetal anomalies consult series #4: genitourinary anomalies. Am J Obstet Gynecol. 2021; 225(5):B2-B35. doi:10.1016/j.ajog.2021.06.009
26. García-Díaz L, Chimenea A, de Agustín JC, Pavón A, Antiñolo G. Ex-utero intrapartum treatment (EXIT): indications and outcome in fetal cervical and oropharyngeal masses. BMC Pregnancy Childbirth. 2020; 20(1):598. doi:10.1186/s12884-020-03304-0
27. Dingemann C, Eaton S, Aksnes G, et al. ERNICA consensus conference on the management of patients with esophageal atresia and tracheoesophageal fistula: follow-up and framework. Eur J Pediatr Surg. 2020;30(6):475-482. doi:10.1055/s-0039-3400284
28. David M, Lamas-Pinheiro R, Henriques-Coelho T. Prenatal and postnatal management of congenital pulmonary airway malformation. Neonatology. 2016;110(2):101-115. doi:10.1159/000440894
29. Luks FI, Johnson A, Polzin WJ; North American Fetal Therapy Network. Innovation in maternal-fetal therapy: a position statement from the North American Fetal Therapy Network. Obstet Gynecol. 2015;125(3):649-652. doi:10.1097/AOG.0000000000000689
30. MacKenzie TC. Fetal Surgical conditions and the unraveling of maternal-fetal tolerance. J Pediatr Surg. 2016;51(2):197-199. doi:10.1016/ j.jpedsurg.2015.10.059
Article available in :
Volume 2, Issue 3, 2025
Page : 101-108
https://doi.org/10.51271/SOC-0045
Article Information
Received : 08 Şub 2025
Accepted : 25 Mar 2025
Published : 01 Tem 2025
Corresponding Author :

Vivek Sarma: Department of Paediatric Surgery, Faculty of Medicine, Kerala University of Health Sciences, Kerala, India

[email protected]
Citation : Sarma VP. The essential principles of evaluation and management pathways in prenatally detected fetal anomalies. Surg Child. 2025;2(3):101-108.

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