Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors

  title={Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors},
  author={Robin L Bennett and Arno G. Motulsky and Alan H. Bittles and Louanne Hudgins and Stefanie B. Uhrich and Debra Lochner Doyle and Kerry Silvey and C. Ronald Scott and Edith Y. Cheng and B McGillivray and Robert D. Steiner and Debra Olson},
  journal={Journal of Genetic Counseling},
The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of1. providing preconception reproductive options2. improving pregnancy outcome and identifying reproductive choices3. reducing morbidity and mortality in the 1st years of life, and4. respecting psychosocial and multicultural issues.The recommendations are the opinions of a multicenter working group… 

Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectives

The findings support the personal utility of genetic counseling for consanguinity and demonstrate the need for increased visibility and access to genetics information, counseling, and testing relevant to this patient population.

Changing profile of couples seeking genetic counseling for consanguinity in Australia

Through time there was a significant increase in the numbers of consanguineous consultands, and their patterns of religious affiliation and ethnic origin widened markedly, and although effectively excluded from entry to Australia prior to 1975, couples of Asian origin accounted for 25.5% of all consanguinity consultands.

Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations

This cross-sectional study was conducted in order to determine the prevalence and types of consanguineous marriages in the genetic clinics in Isfahan, and to define the different types of marriages, specific categories of genetic disorders associated with consanguinity, and mode of inheritance in the family tree.

Letter to the Editor: Consanguinity and Congenital Birth Defects

  • S. Becker
  • Medicine
    Journal of Genetic Counseling
  • 2004
The recently published recommendations of the National Society of Genetic Counselors regarding Genetic Counseling and Screening of Consanguineous Couples and Their Offspring(Bennettet al., 2002)

Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

It is crucial that genetic counselors gain thorough understanding of the complexities of CF and the implications of positive test results, so that they may serve as a reliable, educated referral base and resource for health care providers and their patients.

User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia

Exploring with consanguineous couples in Australia the acceptability and perceived utility of whole exome reproductive carrier screening for autosomal recessive and X-linked recessive conditions found that a large majority of couples were aware of childhood conditions within their family or community and chose to have exome screening.

Frequency of Consanguineous Marriages in Patients with Hereditary Blood Disorders in Southern Turkey

The consanguinity rate was found to be the highest in patients with thalassemia, i.e. 22.2%, and the incidence of other hemoglobinopathies was 71 (15%), G6PD deficiency 69 (15), hemophilias 46 (10%) and membrane defects 14 (3%).

Awareness Regarding Risks of Genetic Disorders Due To Consanguineous Marriages

It was found that 53% of medical population is familiar with the term consanguineous marriages, whereas there was no awareness in illiterate laymen population regarding this term.

The Implications of Parental Consanguinity on the Care of Neonates

  • Diana S Ng
  • Medicine
    Advances in neonatal care : official journal of the National Association of Neonatal Nurses
  • 2016
The relationship between consanguinity and congenital defects is explored to enhance neonatal healthcare practitioners' comprehension of its implications for practice and research and to focus on consanguineous communities in the United States.

The Frequency of Consanguinity and Its Related Factors in Parents of Children with Genetic Disorders

It is necessary to avoid consanguineous marriage as much as possible, and families with a history of molecular genetic disease, should be informed of the possible consequences.



Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring: The need for practice guidelines

To standardize genetic services, guidelines for screening the offspring of consanguineous unions are needed and should consider costs, the sensitivity and specificity of DNA and biochemical testing, and current practices of prenatal and newborn screening.

Reproductive behavior and health in consanguineous marriages

In many regions of Asia and Africa, consanguineous marriages currently account for approximately 20 to 50% of all unions, and preliminary observations indicate that migrants from these areas continue

Consanguinity and its relevance to clinical genetics

This review examines the outcomes of consanguineous unions, with proposals as to how the ongoing preference for consanguinity in many communities can best be accommodated from a clinical genetics perspective.

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

Recommendations detailed here have been incorporated into a joint ACMG/ACOG/NIH Steering Committee document entitled “Preconceptual and Prenatal Carrier Screening for Cystic Fibrosis” which will be widely distributed.

Consanguinity and recurrence risk of birth defects: a population-based study.

The risk of recurrence of birth defects is higher for subsequent sibs with first-cousin parents than for those with nonconsanguineous parents, indicating the degree to which the increased homozygosity among offspring of consanguineously parents influences the risk of Recurrence of Birth defects.

Consanguinity and mental retardation.

The results indicated that, when there is a history of mental retardation in the family and if the parents are consanguineously married, the risk of mental disabilities in the offspring is significantly high (chi 2 = 11.52; P less than 0.001).

ASHG/ACMG STATEMENT Genetic Testing in Adoption

  • Medicine, Psychology
Newborns and children in the adoption process should not be tested for the purpose of detecting genetic variations of or predispositions to physical, mental, or behavioral traits within the normal range.

Community control of genetic and congenital disorders

A comprehensive guide to recommended strategies for controlling genetic and congenital disorders in Eastern Mediterranean countries, the book aims to heighten awareness of these disorders while also increasing understanding of the interventions available for prevention and control.

Frequency of consanguineous marriages among parents and grandparents of Down patients

The data do not show any increase in the frequency of consanguineous marriages even among paternal and maternal grandparents of the affected children, thus not supporting the other possible explanation of an autosomal recessive condition in one of the patient's parents which would cause meiotic nondisjunction.