Genetic Counseling*

No abstract available.
Diagnosis* ; Genetic Counseling*

Genetic Counseling ; United States

No abstract available.
Genetic Counseling* ; Heart Defects, Congenital*

Mosaic trisomy 13 is estimated to occur in 5% of all trisomy 13 cases. Presentation of trisomy 13 mosaicism is highly variable, with cases that may present with a normal phenotype and intellectual function, to cases with grossly abnormal features and profound developmental delays. We present a 2-year-old female with trisomy 13 mosaicism, who presented with small for gestational age (SGA), polydactyly, ventricular septal defect (VSD), and poor oral feeding.
Trisomy 13 Syndrome ; Genetic Counseling

Disclosure ; Genetic Counseling ; Genetic Testing ; United States

Breast Neoplasms ; Genetic Counseling ; Genetic Testing ; Humans

Child ; Humans ; Genetic Counseling ; Consensus ; Genetic Testing

Deafness ; diagnosis ; genetics ; Genetic Counseling ; Humans

Traditional genetic counseling has focused on the target gene and its natural progress with respect to disease risk. Next-generation sequencing (NGS) can produce information on several genetic variants simultaneously, with different functions and consequences for each. Accordingly, determining the status of the patient or consultant and interpreting sequencing results from many genes can largely increase the complexity of genetic counseling. Moreover, the current environment of big data that can be readily shared via the internet and a ubiquitous network provides many different avenues for which a consultant must handle the traditional principle of genetic counseling in different ways. Thus, further consideration and rethinking of genetic counseling principles are necessary in the era of NGS. In this review, we discuss several aspects of genetic counseling that one can encounter when faced with NGS data.
Consultants ; Genetic Counseling* ; Humans ; Incidental Findings ; Internet