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Fetal Anomaly and Genetic Counseling

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Fetal Morph Functional Diagnosis

Part of the book series: Comprehensive Gynecology and Obstetrics ((CGO))

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Abstract

Ultrasonography is widely practiced clinically to evaluate these hereditary disorders. In the diagnosis of chromosomal abnormalities, ultrasonography is considered a non-deterministic test, while ultrasonography is a definitive test in multifactorial diseases with morphological abnormalities such as congenital heart disease, cleft lip and palate, and neural tube insufficiency. Genetic counseling is essential before and after ultrasonography for these hereditary disorders. With adequate pre- and post-test counseling many of these challenges may be overcome and such counseling has to be multidisciplinary, involving clinical geneticists, genetic scientists, pediatricians, perinatal pathologists, and fetal medicine subspecialists.

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References

  1. Staebler M, Donner C, Van Regemorter N, Duprez L, De Maertelaer V, Devreker F, et al. Should determination of the karyotype be systematic for all malformations detected by obstetrical ultrasound? Prenat Diagn. 2005;25:567–73.

    Article  CAS  Google Scholar 

  2. Nicolaides KH, Snijders RJ, Gosden CM, Berry C, Campbell S. Ultrasonographically detectable markers of fetal chromosomal abnormalities. Lancet. 1992;340:704–7.

    Article  CAS  Google Scholar 

  3. Rizzo N, Pittalis MC, Pilu G, Perolo A, Banzi C, Visentin A, et al. Distribution of abnormal karyotypes among malformed fetuses detected by ultrasound throughout gestation. Prenat Diagn. 1996;16:159–63.

    Article  CAS  Google Scholar 

  4. Bijok J, Massalska D, Kucińska-Chahwan A, Posiewka A, Ilnicka A, Jakiel G, et al. Complex malformations involving the fetal body wall – definition and classification issues. Prenat Diagn. 2017;37:1033–9.

    Article  Google Scholar 

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

    Article  Google Scholar 

  6. American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics, Committee on Genetics, Society for Maternal–Fetal Medicine. Practice Bulletin No. 162: Prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016;127:e108–22.

    Article  Google Scholar 

  7. de Wit MC, Srebniak MI, Govaerts LC, Van Opstal D, Galjaard RJ, Go AT. Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature. Ultrasound Obstet Gynecol. 2014;43:139–46.

    Article  Google Scholar 

  8. Hillman SC, Pretlove S, Coomarasamy A, McMullan DJ, Davison EV, Maher ER, et al. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2011;37:6–14.

    Article  CAS  Google Scholar 

  9. Hillman SC, McMullan DJ, Hall G, Togneri FS, James N, Maher EJ, et al. Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2013;41:610–20.

    Article  CAS  Google Scholar 

  10. Bernhardt BA, Soucier D, Hanson K, Savage MS, Jackson L, Wapner RJ. Women’s experiences receiving abnormal prenatal chromosomal microarray testing results. Genet Med. 2013;15:139–45.

    Article  Google Scholar 

  11. Innes J, Reali L, Clayton-Smith J, Hall G, Lim DH, Burghel GJ, et al. CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing. J Med Genet. 2018;55:89–96.

    Article  CAS  Google Scholar 

  12. 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:e262–8. Reaffirmed 2019

    Article  Google Scholar 

  13. Rosenthal A, Jouet M, Kenwrick S. Aberrant splicing of neural cell adhesion molecule L1 mRNA in family with X-linked hydrocephalus. Nat Genet. 1992;2:107–12.

    Article  CAS  Google Scholar 

  14. Hartill V, Szymanska K, Sharif SM, Wheway G, Johnson CA. Meckel-Gruber syndrome: an update on diagnosis, clinical management, and research advances. Front Pediatr. 2017;5:244. https://doi.org/10.3389/fped.2017.00244. eCollection 2017

    Article  PubMed  PubMed Central  Google Scholar 

  15. Vanlerberghe C, Jourdain AS, Ghoumid J, Frenois F, Mezel A, Vaksmann G, et al. Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants. Eur J Hum Genet. 2019;27:360–8.

    Article  CAS  Google Scholar 

  16. Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 2009;11:127–33.

    Article  Google Scholar 

  17. Xue Y, Sun A, Mekikian PB, Martin J, Rimoin DL, Lachman RS, et al. FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. Mol Genet Genomic Med. 2014;2:497–503.

    Article  CAS  Google Scholar 

  18. Rabbani B, Tekin M, Mahdieh N. The promise of whole-exome sequencing in medical genetics. J Hum Genet. 2014;59:5–15.

    Article  CAS  Google Scholar 

  19. 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;38:10–9.

    Article  CAS  Google Scholar 

  20. Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, et al. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet. 2019;393:758–67.

    Article  CAS  Google Scholar 

  21. Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet. 2019;393:747–57.

    Article  CAS  Google Scholar 

  22. Horn R, Parker M. Opening Pandora’s box?: Ethical issues in prenatal whole genome and exome sequencing. Prenat Diagn. 2018;38:20–5.

    Article  CAS  Google Scholar 

  23. Farwell KD, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Tippin Davis B, et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med. 2015;17:578–86.

    Article  CAS  Google Scholar 

  24. International Society for Prenatal Diagnosis, Society for Maternal and Fetal Medicine, Perinatal Quality Foundation. 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;38:6–9.

    Article  Google Scholar 

  25. Fonda Allen J, Stoll K, Bernhardt BA. Pre- and post-test genetic counseling for chromosomal and Mendelian disorders. Semin Perinatol. 2016;40:44–55.

    Article  Google Scholar 

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Jikei University School of Medicine, Tokyo, Japan

    Osamu Samura

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  1. Osamu Samura
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Editors and Affiliations

  1. Nagasaki University, Nagasaki, Japan

    Hideaki Masuzaki

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© 2021 Springer Nature Singapore Pte Ltd.

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Samura, O. (2021). Fetal Anomaly and Genetic Counseling. In: Masuzaki, H. (eds) Fetal Morph Functional Diagnosis. Comprehensive Gynecology and Obstetrics. Springer, Singapore. https://doi.org/10.1007/978-981-15-8171-7_16

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  • DOI: https://doi.org/10.1007/978-981-15-8171-7_16

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  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-15-8170-0

  • Online ISBN: 978-981-15-8171-7

  • eBook Packages: MedicineMedicine (R0)

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