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In Utero Pediatrics in Maternal-Fetal Medicine

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Abstract

Since the 1980s, with the popularization of the concept of “the fetus as a person and the sick fetus as a patient” and the rapid development of prenatal imaging, molecular genetic diagnosis, and in utero treatment technologies, fetal medicine has emerged as a branch of obstetrics and an important research component of maternal-fetal medicine. In the era of maternal-fetal medicine, the target of prenatal screening and diagnosis include not only fetal genetic diseases and structural abnormalities but also complex twins/multiple pregnancy, maternal-fetal alloimmunization, maternal vascular malperfusion (MVM), viral infection, and all other diseases that may affect the health of the fetus. The purpose of prenatal screening and diagnosis is no longer to detect serious birth defects and terminate pregnancy, but to use various techniques to provide accurate prenatal diagnosis, genetic counseling, close monitoring for the high-risk fetus, possible fetal therapies, etc. so as to minimize perinatal mortality and improve the quality of life (QoL) after birth while ensuring maternal safety.

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References

  1. Edwards L, Hui L. First and second trimester screening for fetal structural anomalies. Semin Fetal Neonatal Med. 2018;23:102–11.

    Article  PubMed  Google Scholar 

  2. Salomon LJ, Alfirevic Z, Berghella V, et al. ISUOG Practice Guidelines (updated): performance of the routine mid-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol. 2022;59(6):840–56.

    Article  CAS  PubMed  Google Scholar 

  3. Agathokleous M, Chaveeva P, Poon LC, et al. Meta-analysis of second trimester markers for trisomy 21. Ultrasound Obstet Gynecol. 2013;41:247–61.

    Article  CAS  PubMed  Google Scholar 

  4. Cunningham FG, Leveno KJ, Bloom SL, et al. Williams obstetrics. 24th ed. New York: McGraw-Hill Education; 2014. p. 283.

    Google Scholar 

  5. Hata T, Hanaoka U, Tenkumo C, et al. Three- and four-dimensional HDlive rendering images of normal and abnormal fetuses: pictorial essay. Arch Gynecol Obstet. 2012;286:1431–5.

    Article  PubMed  Google Scholar 

  6. Sepulveda W, Ximenes R, Wong AE, et al. Fetal magnetic resonance imaging and three-dimensional ultrasound in clinical practice: applications in prenatal diagnosis. Best Pract Res Clin Obstet Gynaecol. 2012;26:593–624.

    Article  PubMed  Google Scholar 

  7. Grandjean H, Larroque D, Levi S. The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study. Am J Obstet Gynecol. 1999;181(2):446–54.

    Article  CAS  PubMed  Google Scholar 

  8. Reddy UM, Abuhamad AZ, Levine D, et al., Fetal Imaging Workshop Invited Participants. Fetal imaging: executive summary of a joint Eunice Kennedy Shriver National Institute of Child Health and Human Development, Society for Maternal-Fetal Medicine, American Institute of Ultrasound in Medicine, American College of Obstetricians and Gynecologists, American College of Radiology, Society for Pediatric Radiology, and Society of Radiologists in Ultrasound Fetal Imaging Workshop. J Ultrasound Med. 2014;33:745–57.

    Google Scholar 

  9. Whitworth M, Bricker L, Mullan C. Ultrasound for fetal assessment in early pregnancy. Cochrane Database Syst Rev. 2015;(7):CD007058.

    Google Scholar 

  10. National Institute for Health and Care Excellence. Antenatal care for uncomplicated pregnancies. https://www.nice.org.uk/guidance/cg62/resources/antenatal-care-for-uncomplicated-pregnanciespdf-975564597445. Accessed 30 Sept 2020.

  11. Rydberg C, Tunon K. Detection of fetal abnormalities by second-trimester ultrasound screening in a non-selected population. Acta Obstet Gynecol Scand. 2017;96(2):176–82.

    Article  CAS  PubMed  Google Scholar 

  12. Kenkhuis MJA, Bakker M, Bardi F, et al. Yield of a 12-13 week scan for the early diagnosis of fetal congenital anomalies in the cell-free DNA era. Ultrasound Obstet Gynecol. 2018;51(4):463–9.

    Article  CAS  PubMed  Google Scholar 

  13. Griffiths PD, Bradburn M, Campbell MJ, et al. Use of MRI in the diagnosis of fetal brain abnormalities in utero (MERIDIAN): a multicentre, prospective cohort study. Lancet. 2017;389(10068):538–46.

    Article  PubMed  Google Scholar 

  14. Ronald JW, Crista LM, Brynn L, et al. Chromosomal microarray versus karyotyping in prenatal diagnosis. N Engl J Med. 2013;367(23):2175–84.

    Google Scholar 

  15. Sara BH, Charles L, Allen NL, et al. ACMG standards and guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genet Med. 2013;15(11):901–9.

    Article  Google Scholar 

  16. Lei TY, Fu F, Li R, et al. Whole-exome sequencing in the evaluation of fetal congenital anomalies of the kidney and urinary tract detected by ultrasonography. Prenat Diagn. 2020;40(10):1290–9.

    Article  CAS  PubMed  Google Scholar 

  17. Li R, Fu F, Yu Q, et al. Prenatal exome sequencing in fetuses with congenital heart defects. Clin Genet. 2020;98(3):215–30.

    Article  CAS  PubMed  Google Scholar 

  18. Lord J, McMullan DJ, Eberhardt RY, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet. 2019;393:747–57.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  19. Petrovski S, Aggarwal V, Giordano JL, et al. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet. 2019;393(10173):758–67.

    Article  CAS  PubMed  Google Scholar 

  20. Sparks TN, Lianoglou BR, Adami RR, et al. Exome sequencing for prenatal diagnosis in nonimmune hydrops fetalis. N Engl J Med. 2020;383(18):1746–56.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. Stanley KE, Giordano J, Thorsten V, et al. Causal genetic variants in stillbirth. N Engl J Med. 2020;383(12):1107–16.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  22. Vora NL, Gilmore K, Brandt A, et al. An approach to integrating exome sequencing for fetal structural anomalies into clinical practice. Genet Med. 2020;22(5):954–61.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  23. Best S, Wou K, Vora N, van der Veyver IB, Wapner R, Chitty LS. Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn. 2018;38(1):10–9.

    Article  CAS  PubMed  Google Scholar 

  24. Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), The Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis. Prenat Diagn. 2018;38(1):6–9.

    Google Scholar 

  25. Junior EA, Tonni G, Chung M, et al. Perinatal outcomes and intrauterine complications following fetal intervention for congenital heart disease: systematic review and meta-analysis of observational studies. Ultrasound Obstet Gynecol 2016;48(4):426-433.

    Article  Google Scholar 

  26. Costello JM, Polito A, Brown DW, et al. Birth before 39 weeks’ gestation is associated with worse outcomes in neonates with heart disease. Pediatrics. 2010;126(2):277–84.

    Article  PubMed  Google Scholar 

  27. Peterson AL, Quartermain MD, Ades A, et al. Impact of mode of delivery on markers of perinatal hemodynamics in infants with hypoplastic left heart syndrome. J Pediatr. 2011;159(1):64–9.

    Article  PubMed  Google Scholar 

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Correspondence to Lu-Ming Sun .

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Wang, L., Xing-Wei, Zhu, H., Sun, LM. (2023). In Utero Pediatrics in Maternal-Fetal Medicine. In: Sun, K. (eds) In Utero Pediatrics. Springer, Singapore. https://doi.org/10.1007/978-981-19-9538-5_3

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  • DOI: https://doi.org/10.1007/978-981-19-9538-5_3

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  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-19-9537-8

  • Online ISBN: 978-981-19-9538-5

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