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Chapter 13 - Prenatal Care of Fetal Congenital Anomalies

from Section 1 - Obstetric Aspects of Antenatal Care

Published online by Cambridge University Press:  23 February 2023

By
Amira El-Messidi  and
Majed S. Faden
Edited by
Amira El-Messidi  and
Alan D. Cameron
Amira El-Messidi
Affiliation:
McGill University, Montréal
Alan D. Cameron
Affiliation:
University of Glasgow
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Summary

A 29-year-old G1P1L0 presents for preconception counseling with her husband, as the couple had a fetal neural tube defect (NTD)-affected pregnancy three years ago. Pregnancy was terminated at 21 weeks’ gestation. They have since been using dual contraception with an intrauterine contraceptive device (IUD) and condoms. The primary care provider recommended consultation in your hospital center’s high-risk obstetrics unit prior to removal of the patient’s IUD, as the couple wish to conceive.

Keywords

Fetal neural tube defect, preconception counsellingAnencephaly, obstetric outcomesOpen neural tube defect, fetal neurosonography, prenatal and intrapartum managementMultifactorial inheritance, characteristicsMaternal serum alpha-fetoprotein, fetal anomaliesGenetic sequence and syndromeAmniocentesis, consentChromosomal microarray
Type
Chapter
Information
OSCEs in Obstetrics and Maternal-Fetal Medicine
An Evidence-Based Approach
 , pp. 173 - 186
Publisher: Cambridge University Press
Print publication year: 2023

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References

Suggested Readings

(a) American College of Medical Genetics and Genomics (ACMG). Monaghan, KG, Leach, NT, Pekarek, D, et al. The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020;22(4):675–680.Google Scholar
American College of Medical Genetics and Genomics (ACMG). Palomaki, GE, Bupp, C, Gregg, AR, et al. Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020;22(3):462–474.Google Scholar
Committee on Genetics and the Society for Maternal-Fetal Medicine. Committee Opinion No. 682: Microarrays and next-generation sequencing technology: the use of advanced genetic diagnostic tools in obstetrics and gynecology. Obstet Gynecol. 2016;128(6):e262–e268.Google Scholar
Committee Opinion No. 720: Maternal-fetal surgery for myelomeningocele. Obstet Gynecol. 2017;130(3):e164–e167.CrossRefGoogle Scholar
Gardiner, C, Wellesley, D, Kilby, MD, et al. Recommendation for the use of chromosome microarray in pregnancy. Royal College of Pathologists, June 2015.Google Scholar
Gotha, L, Pruthi, V, Abbasi, N, et al. Fetal spina bifida: What we tell the parents. Prenat Diagn. 2020;40(12):1499–1507.Google Scholar
(a)National Institute for Health and Care Excellence: Fetoscopic prenatal repair for open neural tube defects in the fetus; Interventional procedures guidance (IPG667). January 2020. Available at www.nice.org.uk/guidance/ipg667. Accessed May 6, 2021.Google Scholar
National Institute for Health and Care Excellence: Open prenatal repair for open neural tube defects in the fetus; Interventional procedures guidance (IPG668). January 2020. Available at www.nice.org.uk/guidance/ipg668. Accessed May 6, 2021.Google Scholar
Practice Bulletin No. 187: Neural Tube Defects. Obstet Gynecol. 2017;130(6):e279–e290.Google Scholar
Society for Maternal-Fetal Medicine (SMFM). Dugoff, L, Norton, ME, Kuller, JA. The use of chromosomal microarray for prenatal diagnosis. Am J Obstet Gynecol. 2016;215(4):B2–B9. [Correction in Am J Obstet Gynecol. 2017 Feb;216(2):180]Google Scholar
(a)Society of Obstetricians and Gynecologists of Canada (SOGC) Clinical Practice Guideline: Guideline No. 324. Pre-conception folic acid and multivitamin supplementation for the primary and secondary prevention of neural tube defects and other folic acid-sensitive congenital anomalies. J Obstet Gynaecol Can. 2015;37(6):534–552.Google Scholar
Society of Obstetricians and Gynecologists of Canada (SOGC) Clinical Practice Guideline. Douglas Wilson, R, Van Mieghem, T, Langlois, S, et al. Guideline No. 410: Prevention, screening, diagnosis, and pregnancy management for fetal neural tube defects. J Obstet Gynaecol Can. 2021;43(1):124–139.Google Scholar
(a)World Health Organization. Guideline. Optimal serum and red blood cell folate concentrations in women of reproductive age for prevention of neural tube defects. Geneva, Switzerland: World Health Organization; 2015. Available at www.who.int/nutrition/publications/guidelines/optimalserum_rbc_womenrep_tubedefects/en. Accessed May 6, 2021.Google Scholar
Cordero, AM, Crider, KS, Rogers, LM, et al. Optimal serum and red blood cell folate concentrations in women of reproductive age for prevention of neural tube defects: World Health Organization guidelines. MMWR Morb Mortal Wkly Rep. 2015;64(15):421–423.Google Scholar

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