Screening for Genetic Disorders and Genetic Counseling—Preconception and Early Pregnancy

2022 ◽  
Author(s):  
Nancy J. Cibulka ◽  
Lisa Hickman ◽  
Kelly D. Rosenberger
Keyword(s):  
Genetic Counseling ◽  
Early Pregnancy ◽  
Genetic Disorders

scholarly journals Assessment of the Knowledge and Attitudes of Saudi Mothers towards Newborn Screening

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Ayman Al-Sulaiman ◽  
Altaf A. Kondkar ◽  
Mohammad Y. Saeedi ◽  
Amal Saadallah ◽  
Ali Al-Odaib ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Newborn Screening ◽  
Positive Attitude ◽  
Genetic Disorders ◽  
Communication Education ◽  
Medical Interventions ◽  
Saudi Women ◽  
Knowledge And Attitudes ◽  
Health Authorities ◽  
Structured Questionnaire

Objective. To assess the attitude and knowledge of the Saudi mothers toward newborn screening (NBS) program.Methods. A total of 425 Saudi women (only mothers who have at least one pregnancy) participated in the study from different regions in Saudi Arabia and completed the structured questionnaire which sought their views on the NBS services.Results. A majority of the participating women (91.1%) supported the NBS program and felt it was very important and useful. However, knowledge of NBS was found to be very limited and only 34.6% knew that NBS was a test to detect genetic disorders. A lack of communication and counseling to NBS clients by health authorities offering screening is implied.Conclusion. In general, there is a positive attitude towards the NBS program among Saudi women. However, they have several concerns to improve the availability of medication and formulas, genetic counseling, medical interventions, communication, education materials, and awareness.

scholarly journals Determinant of Prenatal Diagnostic Testing Among Women with Increased Risk of Fetal Aneuploidy and Genetic Disorders.

2021 ◽  
Author(s):  
Tamandra Kyeon Morgan ◽  
Catherine Danielle Tan ◽  
Micaela Della Torre ◽  
Tia Jackson-Bey ◽  
Laura DiGiovanni ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Disorders ◽  
Diagnostic Testing ◽  
Fisher Exact Test ◽  
Regression Result ◽  
Cumulative Number ◽  
Fetal Aneuploidy ◽  
Prenatal Diagnostic ◽  
Increased Risk ◽  
Prenatal Diagnostic Testing

Objective: This study aimed to assess factors that influence patients’ decisions in accepting prenatal diagnostic testing following genetic counseling for increased risk of fetal aneuploidy. Methods: A retrospective cohort study of women at increased risk of fetal aneuploidy who had genetic counseling from January 2012 to December 2016 at a single academic center. Demographics, indications for genetic counseling and rates of diagnostic testing were collected and compared between those who accepted diagnostic testing and those who chose cell free DNA. The variables were analyzed using chi-square, Fisher exact test, and multiple logistic regression. Result: Of the 2373 pregnant women who underwent genetic counseling for increased risk of fetal aneuploidy during the study period, 321 women had diagnostic testing (13.5%). Women at 35 years and older accepted diagnostic testing more than women younger than 35 years (20.7% versus 11.5%, p < 0.001). Asian women accepted diagnostic testing at 27.7% more than white, non-Hispanic Black and Hispanic women at 18.0%, 12.1% and 11.7% respectively, p = 0.002. Number of indications for genetic counseling influenced the likelihood of accepting diagnostic testing. Women with one indication had 11.5% acceptance of diagnostic testing; and with two and three indications, it was 17.0% and 29.2% respectively. The commonest indication for diagnostic testing was cystic hygroma (RR 7.5, 95% CI 3.12-8.76 p < 0.001). The relative risk of diagnostic testing for fetuses with shortened long bones; femur and humerus, thickened nuchal fold, echogenic bowel, single umbilical artery, increased nuchal translucency were 4.0, 3.3, 3.1, 2.7, and 2.7 respectively. Abnormal serum analyte alone was associated with less acceptance of diagnostic testing (RR 0.8, 95% CI 0.7 – 0.96, p = 0.017). Conclusion: Age, race, ethnicity and cumulative number of indications for genetic counseling influenced acceptance of diagnostic testing in at-risk women of fetal aneuploidy and genetic disorders

scholarly journals Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario

2020 ◽  
Vol 11 ◽  
Author(s):  
Reetika Malik Yadav ◽  
Maya Gupta ◽  
Aparna Dalvi ◽  
Umair Ahmed Bargir ◽  
Gouri Hule ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Primary Immunodeficiency ◽  
Index Case ◽  
Genetic Disorders ◽  
Ethical Considerations ◽  
Phenotypic Analysis ◽  
Significant Burden ◽  
Post Test ◽  
Chorionic Villous Sampling

Prenatal Diagnosis (PND) forms an important part of primary preventive management for families having a child affected with primary immunodeficiency. Although individually sparse, collectively this group of genetic disorders represents a significant burden of disease. This paper discusses the prenatal services available for affected families at various centers across the country and the challenges and ethical considerations associated with genetic counseling. Mutation detection in the index case and analysis of chorionic villous sampling or amniocentesis remain the preferred procedures for PND and phenotypic analysis of cordocentesis sample is reserved for families with well-characterized index case seeking PND in the latter part of the second trimester of pregnancy. A total of 112 families were provided PND services in the last decade and the presence of an affected fetus was confirmed in 32 families. Post-test genetic counseling enabled the affected families to make an informed decision about the current pregnancy.

scholarly journals A Leaky Noisy-OR Bayesian Network Applied to Genetic Counseling in Dogs

Animals ◽  
2020 ◽  
Vol 10 (6) ◽  
pp. 1104
Author(s):  
Johann. C. Detilleux
Keyword(s):  
Genetic Counseling ◽  
Mutant Allele ◽  
Scientific Literature ◽  
Deleterious Mutation ◽  
Genetic Disorders ◽  
Clinical Signs ◽  
Exercise Regimen ◽  
Mode Of Transmission ◽  
Degenerative Myelopathy ◽  
Positive Animal

Genetic disorders are very frequent in dogs but evaluating individualized risks of their occurrence can be uncertain. Bayesian networks are tools to characterize and analyze such events. The paper illustrates their benefits and challenges in answering two typical questions in genetic counselling: (1) What is the probability of a test-positive animal showing clinical signs of the disease? (2) What is the risk of testing positive for the mutant allele when one parent presents clinical signs? Current limited knowledge on the hereditary mode of transmission of degenerative myelopathy and on the effects of sex, diet, exercise regimen and age on the occurrence of clinical signs concurrent with the finding of the deleterious mutation was retrieved from the scientific literature. Uncertainty on this information was converted into prior Beta distributions and leaky-noisy OR models were used to construct the conditional probability tables necessary to answer the questions. Results showed the network is appropriate to answer objectively and transparently both questions under a variety of scenarios. Once users of the network have agreed with its structure and the values of the priors, computations are straightforward. The network can be updated automatically and can be represented visually so interactive discussion are easy between the veterinarian and his/her interlocutor.

scholarly journals Parental Autonomy and the Obligation Not to Harm One's Child Genetically

1997 ◽  
Vol 25 (1) ◽  
pp. 5-15 ◽  
Author(s):  
Ronald M. Green
Keyword(s):  
Decision Making ◽  
Genetic Counseling ◽  
Genetic Disorders ◽  
Reproductive Decision ◽  
Societal Needs ◽  
Reproductive Decision Making ◽  
Parental Autonomy ◽  
Value Neutrality ◽  
Privacy And Confidentiality ◽  
Testing And Counseling

Until recently, genetics counselors and medical geneticists considered themselves lucky if they could provide parents with predictive information about a small number of severe genetic disorders. Testing and counseling were indicated primarily for conditions of thithis s sort. Out of respect for the autonomy of parental reproductive decision making, the prevailing ethic of genetic counseling stressed nondirectiveness and value neutrality As summarized by Arthur Caplan, the hallmarks of this stance includea willingness to provide testing and counseling to all who voluntarily seek it, the presentation of information concerning findings in a manner that is balanced and comprehensible to patients or clients, the fair and balanced presentation of all options for action if a problem is discovered, a willingness to answer all questions asked by those seeking services, and an obligation to protect privacy and confidentiality at all times regardless of societal needs or benefits.

Eugenic Considerations in the Theory and Practice of Genetic Counseling

1998 ◽  
Vol 11 (3-4) ◽  
pp. 431-438 ◽  
Author(s):  
Robert G. Resta
Keyword(s):  
Genetic Counseling ◽  
Clinical Practice ◽  
Genetic Disorders ◽  
Genetic Counselors ◽  
Theory And Practice

The ArgumentIs genetic counseling a form of eugenics? To some extent, the answer depends upon how the terms “eugenics” and “genetic counseling” are defined. This paper reviews the eugenic implications of four models of genetic counseling. The complexities of slapping the eugenic label on genetic counseling are illustrated with three cases drawn from clinical practice. However, even though genetic counseling is not always a eugenic activity, genetic counselors work in a medical/ financial setting that has the net eugenic effect of, and profits from, reducing the number of people with genetic disorders.

scholarly journals Mosaic duplication of 8q24.1q24.3 detected by chromosomal microarray but not karyotyping in two unrelated fetuses with cardiac defects

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Shaobin Lin ◽  
Shufang Huang ◽  
Xueling Ou ◽  
Heng Gu ◽  
Yonghua Wang ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Copy Number ◽  
Genetic Disorders ◽  
Genetic Diagnosis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Cardiac Defects ◽  
Prenatal Genetic Diagnosis ◽  
Tumor Tissues ◽  
Number Variation

Abstract Background Discordance between traditional cytogenetic and molecular cytogenetic tests is rare but not uncommon. The explanation of discordance between two genetic methods is difficult but especially important for genetic counseling, particularly for prenatal genetic diagnosis. Case presentation Two unrelated fetuses were diagnosed with cardiac defects by prenatal ultrasound examination, and invasive cordocentesis was performed to obtain cord blood samples for prenatal genetic diagnosis. For both fetuses, chromosomal microarray analysis (CMA) detected a novel approximately 27-Mb mosaic duplication with a high copy number of approximately six to seven copies on chromosome 8q24.1q24.3 that was not identified by karyotyping. To exclude artificial errors and validate laboratory detection results, multiple procedures including copy number variation sequencing, fluorescence in situ hybridization, and short tandem repeat and single-nucleotide polymorphism genotype comparison were performed, confirming the discordant results between CMA and karyotyping. The potential causes of discordance between CMA and karyotyping using fetal blood lymphocytes are discussed; we suggest that extrachromosomal DNA or cell-free DNA fragmentation originating from certain tumor tissues with 8q24.1q24.3 duplication might deserve further investigation. Conclusions This study may be helpful for prenatal evaluation and genetic counseling for subsequent patients with similar mosaic 8q24.1q24.3 duplications. Additionally, more cases and further research are needed to understand whether mosaic 8q24.1q24.3 duplication is associated with certain genetic disorders and to investigate the causes of discordance between molecular and morphological methods.

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