J Yeungnam Med Sci.  2023 Jul;40(3):268-275. 10.12701/jyms.2022.00514.

Rates and subsequent clinical course of fetal congenital anomalies detected by prenatal targeted ultrasonography of 137 cases over 5 years in a single institute: a retrospective observational study

• Choi H
• Kim HS
• Sakong J

• KMID: 2544587
• DOI: http://doi.org/10.12701/jyms.2022.00514

Abstract

Background
With the establishment of international guidelines and changes in insurance policies in Korea, the role of targeted ultrasonography has increased. This study aimed to identify the rates and clinical course of anomalies detected using prenatal targeted ultrasonography.
Methods
This study was a retrospective analysis of all pregnancies with targeted ultrasonography performed in a single secondary medical center over 5 years.
Results
Fetal anomalies were detected by targeted ultrasonography in 137 of the 8,147 cases (1.7%). The rates of anomalies were significantly higher in female fetuses (2.0% vs. 1.3%). In cases of female fetuses, the rate of anomalies was significantly higher in the advanced maternal age group (2.4% vs. 1.2%). In cases of male fetuses, the rate of anomalies was significantly higher in nulliparous (2.4% vs. 1.5%) and twin (5.7% vs. 1.9%) pregnancies. Pulmonary anomalies were significantly more common in the multiparity group (17.6% vs. 5.8%). Among the 137 cases, 17.5% terminated the pregnancy, 16.8% were diagnosed as normal after birth, and 42.3% were diagnosed with anomalies after birth or required follow-up.
Conclusion
Through the first study on the rates and clinical course of anomalies detected by targeted ultrasonography at a single secondary center in Korea, we found that artificial abortions were performed at a high rate, even for relatively mild anomalies or anomalies with good prognosis. We suggest the necessity of a nationwide study to establish clinical guidelines based on actual incidences or prognoses.

Keyword

Congenital defect; Fetal anomaly; Fetal malformation; Fetal ultrasonography; Prenatal diagnosis; Prenatal ultrasonography

Reference

References

1. Grandjean H, Larroque D, Levi S. The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study. Am J Obstet Gynecol. 1999; 181:446–54.

2. Jiao S, Li H, Liu R, Wang S. The congenital malformation detection rate and the maternal satisfaction rate are improved using fetal systemic ultrasonography. Int J Clin Exp Med. 2020; 13:2520–6.

3. Salomon LJ, Alfirevic Z, Berghella V, Bilardo C, Hernandez-Andrade E, Johnsen SL, et al. Practice guidelines for performance of the routine mid-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol. 2011; 37:116–26.

4. Lee JE, Jung KL, Kim SE, Nam SH, Choi SJ, Oh SY, et al. Prenatal diagnosis of congenital heart disease: trends in pregnancy termination rate, and perinatal and 1-year infant mortalities in Korea between 1994 and 2005. J Obstet Gynaecol Res. 2010; 36:474–8.

5. Jang HI, Choi JS, Song ES, Choi YY. Changes in birth rate, perinatal risk factors and outcome in newborns in multi-cultural family: ten-year experience in one center. Neonatal Med. 2013; 20:146–54.

6. Hothi DK, Wade AS, Gilbert R, Winyard PJ. Mild fetal renal pelvis dilatation: much ado about nothing? Clin J Am Soc Nephrol. 2009; 4:168–77.

7. Digiovanni LM, Quinlan MP, Verp MS. Choroid plexus cysts: infant and early childhood developmental outcome. Obstet Gynecol. 1997; 90:191–4.

8. Society for Maternal-Fetal Medicine (SMFM), Fox NS, Monteagudo A, Kuller JA, Craigo S, Norton ME. Mild fetal ventriculomegaly: diagnosis, evaluation, and management. Am J Obstet Gynecol. 2018; 219:B2–9.

9. Sekarski N, Meijboom EJ, Di Bernardo S, Ksontini TB, Mivelaz Y. Perinatal arrhythmias. Eur J Pediatr. 2014; 173:983–96.

10. Groen H, Bouman K, Pierini A, Rankin J, Rissmann A, Haeusler M, et al. Stillbirth and neonatal mortality in pregnancies complicated by major congenital anomalies: findings from a large European cohort. Prenat Diagn. 2017; 37:1100–11.

11. Korean Statistical Information Service. Infant, maternal and perinatal mortality statistics [Internet]. Daejeon: Statistics Korea;2021. [cited 2022 Jul 10]. https://kosis.kr/publication/publicationThema.do?pubcode=YD&move=gongDiv_YD.

12. Croen LA, Shaw GM. Young maternal age and congenital malformations: a population-based study. Am J Public Health. 1995; 85:710–3.

13. Hollier LM, Leveno KJ, Kelly MA, MCIntire DD, Cunningham FG. Maternal age and malformations in singleton births. Obstet Gynecol. 2000; 96(5 Pt 1):701–6.

14. Broere-Brown ZA, Adank MC, Benschop L, Tielemans M, Muka T, Gonçalves R, et al. Fetal sex and maternal pregnancy outcomes: a systematic review and meta-analysis. Biol Sex Differ. 2020; 11:26.

15. Black AJ, Lu DY, Yefet LS, Baird R. Sex differences in surgically correctable congenital anomalies: a systematic review. J Pediatr Surg. 2020; 55:811–20.

16. Christensen K, McGue M. Chapter 26. Twin-singleton differences. In : Tarnoki AD, Tarnoki DL, Harris J, Segal NL, editors. Twin research for everyone: from biology to health, epigenetics, and psychology. Amsterdam: Academic Press;2022.

17. Cui W, Ma CX, Tang Y, Chang V, Rao PV, Ariet M, et al. Sex differences in birth defects: a study of opposite-sex twins. Birth Defects Res A Clin Mol Teratol. 2005; 73:876–80.

18. McNeese ML, Selwyn BJ, Duong H, Canfield M, Waller DK. The association between maternal parity and birth defects. Birth Defects Res A Clin Mol Teratol. 2015; 103:144–56.

19. Korean Statistical Information Service. Vital statistics of immigrants in 2020 [Internet]. Daejeon: Statistics Korea;2021. [cited 2022 Jul 10]. https://kostat.go.kr/portal/korea/kor_nw/1/1/index.board?bmode=read&aSeq=414976.

20. Halvaei I, Litzky J, Esfandiari N. Advanced paternal age: effects on sperm parameters, assisted reproduction outcomes and offspring health. Reprod Biol Endocrinol. 2020; 18:110.

21. Akinmoladun JA. Termination of pregnancy for ultrasound diagnosed major fetal anomalies at a nigerian tertiary hospital: an initial experience. West Afr J Med. 2021; 38:738–42.

22. Kamranpour B, Noroozi M, Bahrami M. Termination of pregnancy for fetal anomalies: a qualitative study of the informational and educational needs of women. Iran J Nurs Midwifery Res. 2021; 26:97–103.