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Chapter 5 - Prenatal Genetic Screening

from Section 1 - Obstetric Aspects of Antenatal Care

Published online by Cambridge University Press:  23 February 2023

By
Karen Wou  and
Amira El-Messidi
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 33-year-old primigravida with a sonographically confirmed spontaneous viable intrauterine singleton at 10+3 weeks’ gestation presents for her first prenatal visit. She has been taking routine prenatal vitamins containing folic acid for the past four months. Her medical, surgical, social, and family histories are unremarkable. The patient does not have any obstetric complaints. She is normotensive with a body mass index (BMI) of 22.5 kg/m2. A follow-up fetal sonography has been arranged between 11+0 and 13+6 weeks’ gestation. Your obstetric trainee asks for your assistance to address the patient’s options for prenatal genetic screening.

Keywords

Cell-free DNA biologyPositive cell-free DNA, differential diagnosisNo-call result, cell-free DNAPretest counselingPosttest counselingIntegrated prenatal screeningMaternal serum biomarkersAdverse obstetric outcomesFirst trimester obstetric ultrasoundEarly amniocentesis
Type
Chapter
Information
OSCEs in Obstetrics and Maternal-Fetal Medicine
An Evidence-Based Approach
 , pp. 55 - 66
Publisher: Cambridge University Press
Print publication year: 2023

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References

Suggested Readings

American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins – Obstetrics; Committee on Genetics; Society for Maternal-Fetal Medicine. Screening for fetal chromosomal abnormalities: ACOG Practice Bulletin, No. 226. Obstet Gynecol. 2020;136(4):e48–e69.CrossRefGoogle Scholar
Audibert, F, De Bie, I, Johnson, JA, et al. No. 348 – Joint SOGC-CCMG guideline: update on prenatal screening for fetal aneuploidy, fetal anomalies, and adverse pregnancy outcomes. J Obstet Gynaecol Can. 2017;39(9):805–817. [Correction in J Obstet Gynaecol Can. 2018 Aug;40(8):1109]CrossRefGoogle ScholarPubMed
Benn, P, Borrell, A, Chiu, RW, et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn. 2015;35(8):725–734.CrossRefGoogle Scholar
Chitayat, D, Langlois, S, Wilson, RD. No. 261 – prenatal screening for fetal aneuploidy in singleton pregnancies. J Obstet Gynaecol Can. 2017;39(9):e380–e394.CrossRefGoogle ScholarPubMed
Dugoff, L. Cell-free DNA screening for fetal aneuploidy. Topics Obstetr Gynecol. 2017;37(1):1–7.Google Scholar
Gil, MM, Accurti, V, Santacruz, B, et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017;50(3):302–314.CrossRefGoogle ScholarPubMed
Gregg, AR, Skotko, BG, Benkendorf, JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18(10):1056–1065.CrossRefGoogle ScholarPubMed
Royal College of Obstetricians and Gynaecologists, Scientific Impact Paper No. 15. Non-invasive prenatal testing for chromosomal abnormality using maternal plasma DNA. March 2014. Available at https://obgyn.onlinelibrary.wiley.com/doi/10.1111/tog.12099. Accessed May 1, 2021.Google Scholar
Sachs, A, Blanchard, L, Buchanan, A, et al. Recommended pre-test counseling points for noninvasive prenatal testing using cell-free DNA: a 2015 perspective. Prenat Diagn. 2015;35(10):968–971.Google Scholar
Norton, ME, Biggio, JR, Kuller, JA, et al. The role of ultrasound in women who undergo cell-free DNA screening. Am J Obstet Gynecol. 2017;216(3):B2–B7.CrossRefGoogle ScholarPubMed
Society for Maternal-Fetal Medicine (SMFM) Publications Committee. Prenatal aneuploidy screening using cell-free DNA, SMFM Consult Series No. 36. Am J Obstet Gynecol. 2015;212(6):711–716.CrossRefGoogle Scholar

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