Attitude of women and their husbands regarding prenatal invasive testing attending genetic clinic at a tertiary referral center, India

Introduction: Prenatal Invasive Tests (amniocentesis and chorionic villous sampling) are used during pregnancy for detection of genetic anomalies. Due to the fear of fetal loss or various other reasons, the couples who seek to avail these tests areusually in dilemma though the chances of fetal loss following the invasive tests are very minimal. Objectives: To assess the attitude ofhigh-risk pregnantwomen and their husbands regarding the prenatal invasive tests who are referred to the genetic clinic of a tertiary referral center in India. Methodology: A descriptive, cross sectionalstudy was undertaken in 60 pregnantwomen who came to genetic clinic at a tertiary referral center in Indiafor counseling on the prenatal invasive testing. Conveniencesampling technique was used. Data was collected using a self-developed, validated semi structured questionnaire. There were total 14 items in the questionnaire where the response “Yes” was given score 3, “Uncertain/did not think about it” was given score 2 and “No” was given score 1. Maximum score was 42 and minimum was 14. The subjects were contacted by the principal investigator after the counseling for test was done by the trained counselor. The questionnaire was also administered separately to 49 accompanying husbands to assess their attitude regarding the tests. Mean, percentage, standard deviation, range and Pearson’s correlation were calculated.SPSS 16.0 version was used for data analysis. Results: Almost half of the women reported that they had adequate information regarding the test following counselling. Both the women and their husbands had unfavorable attitude towards the tests i.e. 21.98 ± 5.44 and 22.27 ± 5.11 respectively despite adequate information following counselling. The main reasons for declining the tests were fear of identification of birth defects, fear of termination of pregnancy and influence by other family membersother than their husbands. There was a significant positive correlation between the attitude of women and their husbands towards declining the prenatal invasive tests (r=0.973) at p<0.05. Conclusion: The pregnant women as well as their husbands had unfavorable attitudes towards prenatal invasive tests despite adequate information following counsellingsuggesting congruency indecision makingregarding the invasive tests.

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

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.

Primary study on application of cell-free fetal DNA (cffDNA) in non-invasive prenatal testing of β-thalassemia

β-thalassemia is a common autosomal recessive disorders, caused by mutations in the β-globin gene. It severely influences the physical and mental development of affected children and place an immense burden of care and treatment on the family and society. Therefore, the prenatal screening of β-thalassemia to control its increase in the community is anessential part of preventive genetics. Currently, besides traditional prenatal diagnostic tests that requires invasive sampling techniques such as amniocentesis or chorionic villous sampling (CVS), the use of cffDNA for non-invasive prenatal testing of β-thalassemia is a new, safer, and more effective direction. In this study, we extracted and enriched the percent of cffDNA in the maternal peripheral blood as well as optimized AS-PCR to detect three most common β-thalassemia mutations CD17, CD26, and CD41/42. Presence or absence of the paternal mutant allele was then correctly determined in all of 7 cases compared to fetal genotyping that determined with amniocentesis.