Prenatal Genetic Diagnosis for Pediatricians

PEDIATRICS ◽  
1994 ◽  
Vol 93 (6) ◽  
pp. 1010-1015
Author(s):  
Keyword(s):  
Decision Making ◽  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Diagnostic Tests ◽  
Genetic Disorder ◽  
Genetic Diagnosis ◽  
Decision Making Process ◽  
Know How ◽  
Prenatal Genetic Diagnosis ◽  
The Family

Pediatricians may be called upon to counsel a family in which prenatal diagnosis is being considered or in which there is a fetus with a genetic disorder. In some settings, the pediatrician may be the primary resource for counseling the family. More frequently, counseling may already have been provided by a clinical geneticist and/or obstetrician. However, because of a previous relationship with the family, the pediatrician may be called upon to review this information and to assist the family in the decision-making process. The pediatrician should be familiar with the principles of prenatal genetic diagnosis and know how to apply them to specific problems in genetic counseling, diagnosis, and management in clinical practice. At the same time, pediatricians should be familiar with resources available in their region for obtaining information about whether and how a specific disorder can be diagnosed and when and where to refer patients for prenatal genetic diagnosis. The technology of prenatal diagnosis is changing rapidly, and genetic consultants can assist pediatricians in the appropriate utilization and interpretation of the diagnostic tests that are available.

scholarly journals Termination of pregnancy following a prenatal diagnosis of Down syndrome: A qualitative study of the decision-making process of pregnant couples

2018 ◽  
Vol 97 (10) ◽  
pp. 1228-1236 ◽  
Author(s):  
Stina Lou ◽  
Kathrine Carstensen ◽  
Olav Bjørn Petersen ◽  
Camilla Palmhøj Nielsen ◽  
Lone Hvidman ◽  
...  
Keyword(s):  
Decision Making ◽  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Qualitative Study ◽  
Termination Of Pregnancy ◽  
Decision Making Process

scholarly journals How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples

2020 ◽  
Vol 29 (1) ◽  
pp. 39-50
Author(s):  
Ivy van Dijke ◽  
Phillis Lakeman ◽  
Inge B. Mathijssen ◽  
Mariëtte Goddijn ◽  
Martina C. Cornel ◽  
...  
Keyword(s):  
Decision Making ◽  
Prenatal Diagnosis ◽  
High Risk ◽  
Gene Editing ◽  
Genetic Disorder ◽  
Clinical Genetics ◽  
Reproductive Decision ◽  
Reproductive Decision Making ◽  
Increased Risk ◽  
Genetic Technologies

AbstractCouples at increased risk of having offspring with a specific genetic disorder who want to avoid having an affected child have several reproductive options including prenatal diagnosis (PND) and preimplantation genetic testing (PGT). In the future, non-invasive prenatal diagnosis (NIPD), germline gene editing (GGE) and somatic gene editing (SGE) might become available. This study explores if, and how, availability of new genetic technologies, including NIPD, GGE, SGE, would change reproductive decision-making of high-risk couples. In 2018, semi-structured interviews were conducted with 25 genetically at-risk couples. Couples previously had received genetic counselling for PND and PGT, and in most cases opted for (one of) these techniques, at one Dutch Clinical Genetics Center between 2013 and 2017. Considerations participants mentioned regarding the hypothetical use of NIPD, GGE and SGE, seem similar to considerations regarding PND and PGT and are reflected in underlying concepts. These include safety and burden for mother and child, and moral considerations. Couples generally favoured NIPD over PND as this would be safe and enables earlier diagnosis. Increased opportunities of having a ‘healthy’ embryo and less embryo disposal were considerations in favour of GGE. Some regarded GGE as unsafe and feared slippery slope scenarios. Couples were least favourable towards SGE compared to choosing for a genetic reproductive technology, because of the perceived burden for the affected offspring. With the possibly growing number of technological options, understanding high risk couples’ perspectives can assist in navigating the reproductive decision-making process. Counsellors should be prepared to counsel on more and complex reproductive options.

Treatment decision-making for older adults with cancer: A qualitative study

2020 ◽  
pp. 096973302094575
Author(s):  
Ni Gong ◽  
Qianqian Du ◽  
Hongyu Lou ◽  
Yiheng Zhang ◽  
Hengying Fang ◽  
...  
Keyword(s):  
Decision Making ◽  
Qualitative Study ◽  
Cancer Patients ◽  
Family Members ◽  
Treatment Decision ◽  
Chinese Society ◽  
Decision Making Process ◽  
Treatment Decision Making ◽  
The Family ◽  
Older Cancer Patients

Background: Independent decision-making is one of the basic rights of patients. However, in clinical practice, most older cancer patients’ treatment decisions are made by family members. Objective: This study attempted to analyze the treatment decision-making process and formation mechanism for older cancer patients within the special cultural context of Chinese medical practice. Method: A qualitative study was conducted. With the sample saturation principle, data collected by in-depth interviews with 17 family members and 12 patients were subjected to thematic analysis. Ethical considerations: The study was approved by the ethics committees of Sun Yat-sen University. All participants provided verbal informed consent after being told their rights of confidentiality, anonymity, and voluntary participation. They had the right to refuse to answer questions and could withdraw at any time. Results: Three themes emerged: (1) complex process; (2) transformation of family decision-making power; and (3) individual compromise. Family members inevitably had different opinions during the long process of treatment decision-making for older cancer patients. The direction of this process could be regarded as an extension of the family power relationship. The patient usually compromised the decision to survive, which was made by family members. Conclusion: This study describes the treatment decision-making process of older cancer patients in the context of Chinese culture. The reasons underlying this process are related to the views on life and death and family values. An individual is a part of the family, which is often seen as the minimal interpersonal unit in Chinese society. It is significant that while emphasizing patient autonomy in the decision-making process, health professionals should also pay attention to the important roles of culture and family.

Severe congenital non-syndromic ichthyosis: ultrasound diagnosis of a prenatal case

2019 ◽  
Vol 8 (2) ◽  
Author(s):  
Giulia Garofalo ◽  
Marie Cassart ◽  
Julie Désir ◽  
Dominique Thomas
Keyword(s):  
Prenatal Diagnosis ◽  
Family History ◽  
Genetic Diagnosis ◽  
Ultrasound Diagnosis ◽  
Second Trimester ◽  
Fetal Ultrasound ◽  
Case Presentation ◽  
Sonographic Diagnosis ◽  
Congenital Ichthyosis ◽  
Prenatal Genetic Diagnosis

Abstract Background Prenatal diagnosis of congenital ichthyosis is still a challenge and very few cases of sonographic diagnosis have been described in the literature. Diagnosis by fetal ultrasound is made from the late second trimester and prenatal genetic diagnosis can be possible only if a proband is known. Case presentation We report the case of a prenatal diagnosis of severe non-syndromic ichthyosis in a primigravida woman with no personal or family history for this pathology. Conclusion Our case outlines prenatal sonographic signs suggestive of ichthyosis orienting genetic diagnosis.

scholarly journals Tyrosinase gene mutations in the Chinese Han population with OCA1

2014 ◽  
Vol 96 ◽  
Author(s):  
NING LIU ◽  
XIANG DONG KONG ◽  
HUI RONG SHI ◽  
QING HUA WU ◽  
MIAO JIANG
Keyword(s):  
At Risk ◽  
Genetic Disorder ◽  
Severe Disease ◽  
Genetic Diagnosis ◽  
Gene Mutations ◽  
Oculocutaneous Albinism ◽  
Compound Heterozygous ◽  
Chinese Han ◽  
Essential Information ◽  
Prenatal Genetic Diagnosis

SummaryOculocutaneous albinism (OCA) is a heterogeneous autosomal recessive genetic disorder that affects melanin synthesis. OCA results in reduced or absent pigmentation in the hair, skin and eyes. Type 1 OCA (OCA1) is the result of tyrosinase (TYR) gene mutations and is a severe disease type. This study investigated TYR mutations in a Chinese cohort with OCA1. This study included two parts: patient genetic study and prenatal genetic diagnosis. A total of 30 OCA1 patients were subjected to TYR gene mutation analysis. Ten pedigrees were included for prenatal genetic diagnosis. A total of 100 unrelated healthy Chinese individuals were genotyped for controls. The coding sequence and the intron/exon junctions of TYR were analysed by bidirectional DNA sequencing. In this study, 20 mutations were identified, four of which were novel. Of these 30 OCA1 patients, 25 patients were TYR compound heterozygous; two patients carried homozygous TYR mutations; and three were heterozygous. Among the ten prenatally genotyped fetuses, three fetuses carried compound heterozygous mutations and seven carried no mutation or only one mutant allele of TYR and appeared normal at birth. In conclusion, we identified four novel TYR mutations and showed that molecular-based prenatal screening to detect TYR mutations in a fetus at risk for OCA1 provided essential information for genetic counselling of couples at risk.

Family involvement in the end-of-life decisions of competent intensive care patients

2012 ◽  
Vol 20 (1) ◽  
pp. 61-71 ◽  
Author(s):  
Ranveig Lind ◽  
Per Nortvedt ◽  
Geir Lorem ◽  
Olav Hevrøy
Keyword(s):  
Decision Making ◽  
Intensive Care ◽  
End Of Life ◽  
Family Involvement ◽  
Decision Making Process ◽  
Primary Role ◽  
Her Family ◽  
Intensive Care Patients ◽  
The Family ◽  
End Of Life Decision

In this article, we report the findings from a qualitative study that explored how relatives of terminally ill, alert and competent intensive care patients perceived their involvement in the end-of-life decision-making process. Eleven family members of six deceased patients were interviewed. Our findings reveal that relatives narrate about a strong intertwinement with the patient. They experienced the patients’ personal individuality as a fragile achievement. Therefore, they viewed their presence as crucial with their primary role to support and protect the patient, thereby safeguarding his values and interests. However, their inclusion in decision making varied from active participation in the decision-making process to acceptance of the physicians’ decision or just receiving information. We conclude that models of informed shared decision making should be utilised and optimised in intensive care, where nurses and physicians work with both the patient and his or her family and regard the family as partners in the process.

scholarly journals Potential usefulness of preimplantation genetic diagnosis in the control and prevention of genetic diseases

1999 ◽  
Vol 5 (6) ◽  
pp. 1134-1139
Author(s):  
M. A. El Hazmi
Keyword(s):  
Prenatal Diagnosis ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Disorder ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Potential Usefulness ◽  
Vitro Fertilization ◽  
Polar Bodies ◽  
Control And Prevention

Prenatal diagnosis of molecular mutations can be of immense value, since diagnosis followed by genetic counselling provides the most appropriate approach to genetic diseases control and prevention. However, ethical, psychosocial and religious considerations hamper adoption of prenatal diagnosis in communities where termination of a pregnancy may not be acceptable. Recently, preimplantation genetic diagnosis has attracted considerable interest. This involves in vitro fertilization, followed by genetic disorder diagnosis using polar bodies or cells extracted from a blastomere stage. The normal blastomere is implanted in the womb and pregnancy proceeds naturally. If an abnormality is diagnosed, the blastomere is not implanted, thus preventing pregnancy with the affected fetus. This paper outlines the potential usefulness of preimplantation genetic diagnosis in the control and prevention of genetic disease in our part of the world

scholarly journals Influence of children in real estate family purchase decision-making context

2020 ◽  
Vol 18 (3) ◽  
pp. 211-217
Author(s):  
I. Kancheva
Keyword(s):  
Decision Making ◽  
Real Estate ◽  
Purchase Decision ◽  
Decision Making Process ◽  
Final Phase ◽  
Convenience Sample ◽  
Frequency Distributions ◽  
The Real Estate ◽  
Paired Samples ◽  
The Family

Purpose: Children play a significant role as active participants in different markets through their own spending power. They are also able to exert considerable influence – explicit or implicit - over other family members’ consumer behavior. The combination of various spatial, structural, financial and practical aspects place the purchase of a real estate among the most complex for the family. The objective of the present paper is to reveal the degree and form of children’s influence throughout family real estate purchase decision-making process. Methods: This paper represents the results of an empirical study focused on parental perceptions of children’s influence in a family real estate purchase. Data were gathered using a convenience sample of 286 respondents – 156 men and 130 women from different Bulgarian families. Frequency distributions, analysis of variance, paired samples and independent samples t-test were applied for the aims of the analysis. Results: Children are found to exert moderate indirect influence throughout the family real estate purchase. They are most influential in the final phase of the real estate purchase decision-making process. Although high influence scores are detected in some attributive decisions, children are found least influential over choices related to technical and financial aspects of the purchase.

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