Uptake of prenatal diagnostic testing and the effectiveness of prenatal screening for Down syndrome

2010 ◽  
pp. n/a-n/a ◽  
Author(s):  
Alice M. Jaques ◽  
Veronica R. Collins ◽  
Evelyne E. Muggli ◽  
David J. Amor ◽  
Ivan Francis ◽  
...  
2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Moti Gulersen ◽  
Alexandra Peyser ◽  
Jiyoung Kim ◽  
Amanda Ferraro ◽  
Randi Goldman ◽  
...  

Abstract Objectives To determine whether preimplantation genetic testing for aneuploidy (PGT-A) is associated with a reduced risk of abnormal conventional prenatal screening results in singleton pregnancies conceived using in vitro fertilization (IVF). Methods This was a retrospective cohort study of singleton IVF pregnancies conceived from a single tertiary care center between January 2014 and September 2019. Exclusion criteria included mosaic embryo transfers, vanishing twin pregnancies, and cycles with missing outcome data. Two cases of prenatally diagnosed aneuploidy that resulted in early voluntary terminations were also excluded. The primary outcome of abnormal first or second-trimester combined screening results was compared between two groups: pregnancy conceived after transfer of a euploid embryo by PGT-A vs. transfer of an untested embryo. Multivariable backwards-stepwise logistic regression with Firth method was used to adjust for potential confounders. Results Of the 419 pregnancies included, 208 (49.6%) were conceived after transfer of a euploid embryo by PGT-A, and 211 (50.4%) were conceived after transfer of an untested embryo. PGT-A was not associated with a lower likelihood of abnormal first-trimester (adjusted OR 1.64, 95% CI 0.82–3.39) or second-trimester screening results (adjusted OR 0.96, 95% CI 0.56–1.64). The incidences of cell-free DNA testing, fetal sonographic abnormalities, genetic counseling, and invasive prenatal diagnostic testing were similar between the two groups. Conclusions Our data suggest that PGT-A is not associated with a change in the likelihood of abnormal prenatal screening results or utilization of invasive prenatal diagnostic testing. Counseling this patient population regarding the importance of prenatal screening and prenatal diagnostic testing, where appropriate, remains essential.


1998 ◽  
Vol 1 (1) ◽  
pp. 39-44 ◽  
Author(s):  
G. Erlick Robinson ◽  
J. A. M. Johnson ◽  
R. D. Wilson ◽  
M. Gajjar

2019 ◽  
Vol 87 (2) ◽  
pp. 206-217
Author(s):  
Carolyn A. Laabs

Prenatal genetic screening (PGS) is commonplace in the United States and in some parts of the world. The commonly held rationale for screening is to respect patient autonomy and to either allow the mother the opportunity to prepare herself to parent a child with a genetic disorder or to abort. As a result, PGS combined with prenatal diagnostic testing followed by abortion has significantly reduced the number of babies born with Down syndrome, for example, and, furthermore, has raised concerns about discrimination against persons with disabilities and eugenics. Although Catholic teaching clearly prohibits PGS and testing when undertaken with the intention of abortion, screening routinely is performed in Catholic health care, sometimes without regard to intent. This essay explores the issue of PGS in Catholic health care and suggests the development of a policy designed to support morally legitimate use of screening through an educational and informed consent process and attestation as to intent so as to prevent abortion or at least avoid complicity in it. Although the issue applies to prenatal testing as well as screening and for a variety of disorders as well as gender, this essay limits itself to a discussion of first trimester screening and a focus on Down syndrome. Objections to such a policy are discussed.


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