Pregnancies with 'double-positive' multiple marker screening results: a population-based study in Ontario, Canada.

Autor: Bellai-Dussault K; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada. kbell024@uottawa.ca.; Prenatal Screening Ontario, Better Outcomes Registry & Network BORN Ontario, 401 Smyth Road, Ottawa, ON, Canada. kbell024@uottawa.ca.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada. kbell024@uottawa.ca., Dougan SD; Prenatal Screening Ontario, Better Outcomes Registry & Network BORN Ontario, 401 Smyth Road, Ottawa, ON, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Fell DB; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Hawken S; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.; Ottawa Hospital Research Institute, Ottawa, Canada., Huang T; Prenatal Screening Ontario, Better Outcomes Registry & Network BORN Ontario, 401 Smyth Road, Ottawa, ON, Canada.; North York General Hospital, Genetics, Toronto, ON, Canada., Venegas CL; Prenatal Screening Ontario, Better Outcomes Registry & Network BORN Ontario, 401 Smyth Road, Ottawa, ON, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Little J; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada., Meng L; Prenatal Screening Ontario, Better Outcomes Registry & Network BORN Ontario, 401 Smyth Road, Ottawa, ON, Canada., Okun N; Prenatal Screening Ontario, Better Outcomes Registry & Network BORN Ontario, 401 Smyth Road, Ottawa, ON, Canada.; DAN Women & Babies Program, Sunnybrook Health Sciences Centre, Toronto, Canada., Walker M; Prenatal Screening Ontario, Better Outcomes Registry & Network BORN Ontario, 401 Smyth Road, Ottawa, ON, Canada.; Ottawa Hospital Research Institute, Ottawa, Canada., Armour CM; Prenatal Screening Ontario, Better Outcomes Registry & Network BORN Ontario, 401 Smyth Road, Ottawa, ON, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Potter BK; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
Jazyk: angličtina
Zdroj: BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2024 Sep 06; Vol. 24 (1), pp. 584. Date of Electronic Publication: 2024 Sep 06.
DOI: 10.1186/s12884-024-06774-8
Abstrakt: Background: Multiple marker screening is offered to pregnant individuals in many jurisdictions to screen for trisomies 21 and 18. On occasion, the result is 'double-positive'-a screening result that is unexpectedly positive for both aneuploidies. Although this occurs rarely, the paucity of available evidence about the outcomes of these pregnancies hinders patient counselling. This study aimed to investigate the association of double-positive results with preterm birth and other adverse perinatal outcomes.
Methods: We conducted a population-based retrospective cohort study of pregnancies with an estimated date of delivery from September 1, 2016, to March 31, 2021, using province-wide perinatal registry data in Ontario, Canada. Pregnancies with double-positive screening results where trisomies 21 and 18 were ruled-out were compared to pregnancies with screen negative results for both aneuploidies. We used modified Poisson regression models with robust variance estimation to examine the association of double positive results with preterm birth and secondary outcomes.
Results: From 429 540 pregnancies with multiple marker screening, 863 (0.2%) had a double-positive result; trisomies 21 and 18 were ruled out in 374 pregnancies, 203 of which resulted in a live birth. Among the pregnancies in the double-positive group resulting in a live birth, the risk of preterm birth was increased compared to pregnancies with a screen negative result: adjusted risk ratio (aRR) 2.6 (95%CI 2.0-3.6), adjusted risk difference (aRD) 10.5% (95%CI 5.4-15.7). In a sensitivity analysis excluding all diagnosed chromosomal abnormalities, the risk of preterm birth remained elevated to a similar degree: aRR 2.6 (95%CI 1.9-3.7), aRD 10.0% (95%CI 4.8-15.3). The risk of other adverse perinatal outcomes was also higher, including the risk of chromosomal abnormalities other than trisomies 21 and 18: aRR 81.1 (95%CI 69.4-94.8), aRD 34.0% (95%CI 29.2-38.8). Pregnancies with double-positive results were also less likely to result in a live birth, even when excluding all diagnosed chromosomal abnormalities; and at increased risk of adverse perinatal outcomes for those resulting in a live birth.
Conclusion: Although rare, double-positive multiple marker screening results are associated with an increased risk of preterm birth and other adverse perinatal outcomes, even when excluding all identified chromosomal abnormalities.
(© 2024. The Author(s).)
Databáze: MEDLINE
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