Pre- and post-test genetic counseling for chromosomal and Mendelian disorders

Allen, Jill Fonda; Stoll, Katie; Bernhardt, Barbara A.

doi:10.1053/j.semperi.2015.11.007

Cited by 33 publications

(7 citation statements)

References 102 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Appropriate pre and post‐test counseling can help parents understand the types of findings that may be returned to them, and is central to supporting informed decision making . Managing uncertainty in relation to genetic results will continue to present challenges for clinicians and complicate parental decisions in pregnancy . In time, prenatal counseling around prognosis relating to many genetic alterations will be improved as further phenotypic data are gathered leading to better parental understanding and experience .…”

Section: Discussionmentioning

confidence: 99%

The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder

Morton

Quinlan-Jones

Butts

et al. 2017

Clinical Case Reports

View full text Add to dashboard Cite

Key Clinical MessageThe loss of ANKRD11 gene confirms the diagnosis of KBG syndrome but does not elucidate the pediatric phenotype providing a counseling challenge. With the expansion of prenatal diagnosis, and the potential to perform whole‐exome sequencing antenatally, we must describe the genetic abnormalities, antenatal ultrasound findings, and phenotype concurrently to facilitate counseling.

show abstract

Section: Discussionmentioning

confidence: 99%

The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder

Morton

Quinlan-Jones

Butts

et al. 2017

Clinical Case Reports

View full text Add to dashboard Cite

show abstract

“…The complexity of genomic testing precipitates the requirement for counseling patients prior to prenatal testing using microarrays. Pre-test counseling provides patients an opportunity to understand the benefits and limitations of CMA technology and thus make informed decisions regarding the appropriateness of testing based on their personal beliefs and attitudes (42). When CMA Is performed for prenatal diagnosis after CVS or amniocentesis counseling by a genetic counselor, geneticist, or other health care provider with appropriate expertise in genetic counseling is recommended.…”

Section: Pre-test Counselingmentioning

confidence: 99%

Prenatal diagnosis by chromosomal microarray analysis

Levy

Wapner

2018

Fertility and Sterility

231

201

View full text Add to dashboard Cite

Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization or by using a single nucleotide polymorphism array. In the prenatal setting, CMA is on par with traditional karyotyping for detection of major chromosomal imbalances such as aneuploidy and unbalanced rearrangements. CMA offers additional diagnostic benefits by revealing sub-microscopic imbalances or copy number variations that are too small to be seen on a standard G-banded chromosome preparation. These submicroscopic imbalances are also referred to as microdeletions and microduplications, particularly when they include specific genomic regions that are associated with clinical sequelae. Not all microdeletions/duplications are associated with adverse clinical phenotypes and in many cases, their presence is benign. In other cases, they are associated with a spectrum of clinical phenotypes that may range from benign to severe, while in some situations, the clinical significance may simply be unknown. These scenarios present a challenge for prenatal diagnosis, and genetic counseling prior to prenatal CMA greatly facilitates delivery of complex results. In prenatal diagnostic samples with a normal karyotype, chromosomal microarray will diagnose a clinically significant subchromosomal deletion or duplication in approximately 1% of structurally normal pregnancies and 6% with a structural anomaly. Pre-test counseling is also necessary to distinguish the primary differences between the benefits, limitations and diagnostic scope of CMA versus the powerful but limited screening nature of non-invasive prenatal diagnosis using cell-free fetal DNA.

show abstract

“…Prenatal screening and diagnostic testing for chromosomal abnormalities have expanded dramatically over the past two decades [1]. After reviewing 68159 live born baby surveys from 1969 to 1982, 1 in 156 live births were found to be carrying a major chromosomal abnormality [2] [3].…”

Section: Introductionmentioning

confidence: 99%

20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey

Durmaz¹,

Bolat²,

Cengisiz³

et al. 2021

Turk J Med Sci

View full text Add to dashboard Cite

Background/aim: Although cutting edge procedures such as cell-free fetal DNA isolation from maternal blood are now available, invasive prenatal tests are still being used extensively for prenatal diagnosis. The study aims to evaluate the demographic data, indications, and cytogenetic results of 9297 results of patients who underwent prenatal invasive testing for genetic analysis that were referred for the last 20 years in a University Medical Genetics Center. Materials and methods: The records of 8363 amniocenteses, 626 chorionic villus and 308 cordocenteses samples were retrospectively evaluated and analyzed regarding referral reasons, indications and their cytogenetic results. The total numbers and the percentages of each group were recorded; Chi-square and logistic regression analyses were performed to give the statistical likelihood of different events. Results: The number of referrals decreased significantly after 2009. Risk of having trisomy 21 as well as trisomy 13 and 18 significantly increased in parallel with advanced maternal age. When the 21-25 age group was compared to the older age groups in terms of having a trisomy 21 pregnancy, the risk doubled in the 36-40, 5 times higher in 41-45 and 10-fold in 46-50 age groups. No significant linear correlation between maternal serum screening test results and trisomy 21 was found, however the difference between the pregnancies whom cutoff value above and below 1/250 in maternal serum screening test were significant. Conclusion: These data have provided useful information on the frequency of referrals to the reference genetics department, and the feasibility of genetic services. By reviewing the indications and their corresponding results, we can offer invaluable insights that will be useful in genetic counseling and also in the development of more effective genetic strategies.

show abstract

Pre- and post-test genetic counseling for chromosomal and Mendelian disorders

Cited by 33 publications

References 102 publications

The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder

The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder

Prenatal diagnosis by chromosomal microarray analysis

20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey

Contact Info

Product

Resources

About