scholarly journals Clinical Utility of Expanded Carrier Screening: Results-Guided Actionability and Outcomes

2018 ◽  
Author(s):  
Katherine Johansen Taber ◽  
Kyle A. Beauchamp ◽  
Gabriel Lazarin ◽  
Dale Muzzey ◽  
Aishwarya Arjunan ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Diagnostic Testing ◽  
Carrier Screening ◽  
Limited Data ◽  
Affected Offspring ◽  
Expanded Carrier Screening ◽  
Prenatal Diagnostic ◽  
Reproductive Decision Making ◽  
The Impact ◽  
Prenatal Diagnostic Testing

Purpose: Expanded carrier screening (ECS) informs couples of their risk of having offspring affected by certain genetic conditions. Limited data exists assessing the actions and reproductive outcomes of at-risk couples (ARCs). We describe the impact of ECS on planned and actual pregnancy management in the largest sample of ARCs studied to date. Methods: Couples who elected ECS and were found to be at high risk of having a pregnancy affected by at least one of 176 genetic conditions were invited to complete a survey about their actions and pregnancy management. Results: Three hundred ninety-one ARCs completed the survey. Among those screened before becoming pregnant, 77% planned or pursued actions to avoid having affected offspring. Among those screened during pregnancy, 37% elected prenatal diagnostic testing (PNDx) for that pregnancy. In subsequent pregnancies that occurred in both the preconception and prenatal screening groups, PNDx was pursued in 29%. The decision to decline PNDx was most frequently based on the fear of procedure-related miscarriage, as well as the belief that termination would not be pursued in the event of a positive diagnosis. Conclusions: ECS results impacted couples’ reproductive decision-making and led to altered pregnancy management that effectively eliminates the risk of having affected offspring.

scholarly journals Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples

2016 ◽  
Author(s):  
Caroline Ghiossi ◽  
James D. Goldberg ◽  
Imran S. Haque ◽  
Gabriel A. Lazarin ◽  
Kenny K. Wong
Keyword(s):  
Decision Making ◽  
At Risk ◽  
Clinical Utility ◽  
Carrier Screening ◽  
Reproductive Behaviors ◽  
Reproductive Risk ◽  
Expanded Carrier Screening ◽  
Reproductive Decision Making ◽  
Recessive Genes ◽  
Professional Guidelines

ABSTRACTPurposeExpanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes for determining reproductive risk. Data on clinical utility of screening conditions beyond professional guidelines is scarce.MethodsIndividuals underwent ECS for up to 110 genes. 537 at-risk couples (ARC), those in which both partners carry the same recessive disease, were invited to a retrospective IRB-approved survey of their reproductive decision making after receiving ECS results.Results64 eligible ARC completed the survey. Of 45 respondents screened preconceptionally, 62% (n=28) planned IVF with PGD or prenatal diagnosis (PNDx) in future pregnancies. 29% (n=13) were not planning to alter reproductive decisions. The remaining 9% (n=4) of responses were unclear.Of 19 pregnant respondents, 42% (n=8) elected PNDx, 11% (n=2) planned amniocentesis but miscarried, and 47% (n=9) considered the condition insufficiently severe to warrant invasive testing. Of the 8 pregnancies that underwent PNDx, 5 were unaffected and 3 were affected. 2 of 3 affected pregnancies were terminated.Disease severity was found to have significant association (p=0.000145) with changes in decision making, whereas guideline status of diseases, controlled for severity, was not (p=0.284).ConclusionMost ARC altered reproductive planning, demonstrating the clinical utility of ECS. Severity of conditions factored into decision making.

The impact of preimplantation genetic testing for aneuploidy on prenatal screening

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Moti Gulersen ◽  
Alexandra Peyser ◽  
Jiyoung Kim ◽  
Amanda Ferraro ◽  
Randi Goldman ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Prenatal Screening ◽  
Diagnostic Testing ◽  
Second Trimester ◽  
Preimplantation Genetic Testing ◽  
Prenatal Diagnostic ◽  
Second Trimester Screening ◽  
The Impact ◽  
Prenatal Diagnostic Testing ◽  
Euploid Embryo

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.

Anxiety reduction after early and mid-trimester prenatal diagnostic testing

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

X-linked Adrenoleukodystrophy

2016 ◽  
Author(s):  
Björn M. van Geel ◽  
Marc Engelen ◽  
Stephan Kemp
Keyword(s):  
Axonal Degeneration ◽  
Age Of Onset ◽  
Diagnostic Testing ◽  
Neurological Deficits ◽  
Long Chain Fatty Acids ◽  
Adrenocortical Insufficiency ◽  
Beta Oxidation ◽  
Prenatal Diagnostic ◽  
Prenatal Diagnostic Testing ◽  
Female Carriers

X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disorder. Hallmarks are increased levels of plasma very long-chain fatty acids (VLCFA), mutations in the ABCD1 gene, impaired function of ALD-protein and, consequently, decreased import of VLCFA-CoA esters in peroxisomes and VLCFA beta-oxidation. Cerebral demyelination and axonal degeneration of the spinal cord are the main causes of neurological deficits. Endocrine dysfunction, particularly adrenocortical insufficiency, is very frequent. Based upon the age of onset of symptoms and the organs most severely affected, several phenotypes can be distinguished. Adrenomyeloneuropathy (AMN) and childhood cerebral adrenoleukodystrophy (CCALD) are the most frequent variants. At least 80% of female carriers will eventually develop neurological symptoms similar to men with AMN. The thin and scanty scalp hair in affected men may facilitate diagnosis of X-ALD. Identification of patients is of utmost importance, as adrenocortical insufficiency can be treated, rapidly progressive cerebral demyelination can be halted, and prenatal diagnostic testing is available. Furthermore, symptomatic therapies and multidisciplinary support may help patients coping with this disease.

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