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Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario
- Source :
- Frontiers in Immunology, Vol 11 (2020), Frontiers in Immunology
- Publication Year :
- 2020
- Publisher :
- Frontiers Media S.A., 2020.
-
Abstract
- 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.
- Subjects :
- 0301 basic medicine
lcsh:Immunologic diseases. Allergy
medicine.medical_specialty
chorionic villus sampling
Primary Immunodeficiency Diseases
Genetic counseling
Immunology
India
Chorionic villus sampling
Prenatal diagnosis
03 medical and health sciences
0302 clinical medicine
Pregnancy
medicine
Humans
Immunology and Allergy
Genetic Testing
Index case
reproductive and urinary physiology
variants of unknown significance
Original Research
030219 obstetrics & reproductive medicine
prenatal diagnosis
medicine.diagnostic_test
business.industry
Obstetrics
flow cytometry
Genetic Diseases, Inborn
medicine.disease
maternal contamination
Indian scenario
030104 developmental biology
Mutation
Amniocentesis
Primary immunodeficiency
Female
business
lcsh:RC581-607
cordocentesis
Subjects
Details
- Language :
- English
- ISSN :
- 16643224
- Volume :
- 11
- Database :
- OpenAIRE
- Journal :
- Frontiers in Immunology
- Accession number :
- edsair.doi.dedup.....0b80506245a1fa9161ff3995db89ade0
- Full Text :
- https://doi.org/10.3389/fimmu.2020.612316/full