Experience of carrier couples identified through a population‐based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay–Lac‐Saint‐Jean

Tardif, Jessica; Pratte, Annabelle; Laberge, Anne‐Marie

doi:10.1002/pd.5055

Cited by 13 publications

(15 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Should a couple then elect invasive diagnostic testing for their pregnancy, final results often take two to three weeks to become available. Patients have previously reported experiencing significant anxiety after receiving positive carrier screening results, regardless of whether or not the information will be used for preparation or for consideration of termination . The time spent waiting for partner results compounded by the gestational age constraints for pregnancy termination can heighten this anxiety for some patients who may consider termination if a genetic diagnosis is confirmed.…”

Section: Discussionmentioning

confidence: 99%

“…Patients have previously reported experiencing significant anxiety after receiving positive carrier screening results, regardless of whether or not the information will be used for preparation or for consideration of termination. 4,7,9 The time spent waiting for partner results compounded by the gestational age constraints for pregnancy termination can heighten this anxiety for some patients who may consider termination if a genetic diagnosis is confirmed. This may be particularly salient in states where the limit for termination has been shortened.…”

Section: Gjb2-related Nonsyndromic Hearing Loss and Deafnessmentioning

confidence: 99%

“…There are many facets to evaluating the clinical utility of carrier screening in routine settings. While previous data exists exploring carrier frequency, patient uptake and attitudes regarding carrier screening, little data exists detailing uptake behaviors of the male partner, which is essential to understanding the true clinical utility of carrier screening. Therefore, this study aimed to describe the uptake of carrier screening by male partners of female patients identified to carry an autosomal recessive genetic disorder and to identify potential factors associated with uptake.…”

Section: Introductionmentioning

confidence: 99%

“…2 There are many facets to evaluating the clinical utility of carrier screening in routine settings. While previous data exists exploring Preliminary data from this study was presented via abstract and poster entitled "Uptake of carrier screening among male reproductive partners of prenatal and preconception patients: a retrospective review" at the National Society of Genetic Counselors Annual Education Conference in Atlanta, Georgia, from November 14, 2018 -November 17, 2018. carrier frequency, patient uptake and attitudes regarding carrier screening, [3][4][5][6][7][8][9] little data exists detailing uptake behaviors of the male partner, 10 which is essential to understanding the true clinical utility of carrier screening. Therefore, this study aimed to describe the uptake of carrier screening by male partners of female patients identified to carry an autosomal recessive genetic disorder and to identify potential factors associated with uptake.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

It takes two: uptake of carrier screening among male reproductive partners

et al. 2019

View full text Add to dashboard Cite

Objective To describe uptake of carrier screening by male reproductive partners of prenatal and preconception patients. Methods A retrospective database review of all prenatal and preconception patients seen for genetic counseling in Maternal Fetal Medicine clinics was performed. Descriptive statistics and chi‐square analysis were used on the data set. Results Within the study period, 6087 patients were seen for genetic counseling, of whom 661 were identified as a carrier of an autosomal recessive disorder by their referring provider or genetic counselor. Despite guidelines recommending partner testing for risk clarification when a woman is known to be a carrier of an autosomal recessive condition, only 41.5% male partners elected carrier screening to clarify the couple's reproductive risk, with a majority of males (75%) having screening consecutively. Of all assessed variables, the only significant predictors of male carrier screening uptake were female parity and earlier gestational age (p < .0001, and p = .001, respectively). Conclusion With less than half of male partners pursuing carrier screening when indicated, its utility becomes severely diminished. More research is needed to explore reasons why males elect or decline carrier screening.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Gjb2-related Nonsyndromic Hearing Loss and Deafnessmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

It takes two: uptake of carrier screening among male reproductive partners

et al. 2019

View full text Add to dashboard Cite

show abstract

“…A recent population-based study describing couples' experience with carrier screening revealed that prospective carrier parents are not aware of screening programs, though, upon taking the test, they appreciated knowing their risk thereby recognizing the test's importance [32]. There are many benefits in combining an extended carrier screening test with a NIPT.…”

Section: Discussionmentioning

confidence: 99%

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

Koumbaris¹,

Achilleos²,

Nicolaou³

et al. 2019

Mol Cytogenet

View full text Add to dashboard Cite

Background: Non-invasive prenatal testing (NIPT) has been widely adopted for the detection of fetal aneuploidies and microdeletion syndromes, nevertheless, limited clinical utilization has been reported for the non-invasive prenatal screening of monogenic diseases. In this study, we present the development and validation of a single comprehensive NIPT for prenatal screening of chromosomal aneuploidies, microdeletions and 50 autosomal recessive disorders associated with severe or moderate clinical phenotype. Results: We employed a targeted capture enrichment technology powered by custom TArget Capture Sequences (TACS) and multi-engine bioinformatics analysis pipeline to develop and validate a novel NIPT test. This test was validated using 2033 cell-fee DNA (cfDNA) samples from maternal plasma of pregnant women referred for NIPT and paternal genomic DNA. Additionally, 200 amniotic fluid and CVS samples were used for validation purposes. All NIPT samples were correctly classified exhibiting 100% sensitivity (CI 89.7-100%) and 100% specificity (CI 99.8-100%) for chromosomal aneuploidies and microdeletions. Furthermore, 613 targeted causative mutations, of which 87 were unique, corresponding to 21 monogenic diseases, were identified. For the validation of the assay for prenatal diagnosis purposes, all aneuploidies, microdeletions and point mutations were correctly detected in all 200 amniotic fluid and CVS samples. Conclusions: We present a NIPT for aneuploidies, microdeletions, and monogenic disorders. To our knowledge this is the first time that such a comprehensive NIPT is available for clinical implementation.

show abstract

Portrait of autosomal recessive diseases in the French‐Canadian founder population of Saguenay‐Lac‐Saint‐Jean

Mariño

Leblanc

Pratte

et al. 2023

American J of Med Genetics Pt A

Self Cite

View full text Add to dashboard Cite

The population of the Saguenay‐Lac‐Saint‐Jean (SLSJ) region, located in the province of Quebec, Canada, is recognized as a founder population, where some rare autosomal recessive diseases show a high prevalence. Through the clinical and molecular study of 82 affected individuals from 60 families, this study outlines 12 diseases identified as recurrent in SLSJ. Their carrier frequency was estimated with the contribution of 1059 healthy individuals, increasing the number of autosomal recessive diseases with known carrier frequency in this region from 14 to 25. We review the main clinical and molecular features previously reported for these disorders. Five of the studied diseases have a potential lethal effect and three are associated with intellectual deficiency. Therefore, we believe that the provincial program for carrier screening should be extended to include these eight disorders. The high‐carrier frequency, together with the absence of consanguinity in most of these unrelated families, suggest a founder effect and genetic drift for the 12 recurrent variants. We recommend further studies to validate this hypothesis, as well as to extend the present study to other regions in the province of Quebec, since some of these disorders could also be present in other French‐Canadian families.

show abstract

Experience of carrier couples identified through a population‐based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay–Lac‐Saint‐Jean

Abstract: Our results emphasize the informational needs of couples to make informed decisions and the importance of post-test counseling for those with positive results. Our findings can inform counseling procedures in expanded carrier screening. © 2017 John Wiley & Sons, Ltd.

Cited by 13 publications

References 17 publications

It takes two: uptake of carrier screening among male reproductive partners

It takes two: uptake of carrier screening among male reproductive partners

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

Portrait of autosomal recessive diseases in the French‐Canadian founder population of Saguenay‐Lac‐Saint‐Jean

Contact Info

Product

Resources

About