The role of genetic counseling in the early detection of fetal malformations

Gladys C Al Jashi,Andra Bordeianu,Isam Al Jashi

doi:10.37897/rjmp.2019.3.14

Abstract

The role of genetic counseling in the early detection of fetal malformations

Highlights

Genetic counseling is a communication process developed by specialists in the field, a process that laid the foundation for human and psychological issues arising from the presence of genetic malformations or the risk of such a disease in the family
According to the literature, screening tests have shown a margin of error in the diagnosis of fetal malformations, so the diagnosis of certainty results from amniocentesis
Amniocentesis is recommended as an invasive prenatal diagnosis when the risk of a detectable abnormality by this method is considered greater than the procedural risk of amniocentesis

Summary

Introduction

Genetic counseling is a communication process developed by specialists in the field, a process that laid the foundation for human and psychological issues arising from the presence of genetic malformations or the risk of such a disease in the family. Genetic counseling is given by one or more specialized people, the main purpose being to help the individual or the family [1]. The objectives of the study are to highlight the importance of knowledge of prenatal risks and possible pathologies by future parents, especially if they have knowledge of the existence of hereditary diseases in the family. Prenatal pathology is represented by congenital illness, hereditary disease, and family illness. Congenital diseases or malformations are present at birth (they are not synonymous with heredity) and are the consequence of genetic or environmental factors. Not all genetic diseases are congenital, especially with regard to the pathological phenotypic phenomenon at birth. Hereditary disease is synonymous with transmitted or inherited disease and is the consequence of a transmitted genetic mutation. Some chromosomal abnormalities may be inherited (translocation 15/21 leads to the occurrence of hereditary and familial cases of Down syndrome).

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Conclusion