When contemplating pregnancy, either parent affected with an autosomal dominant disorder. Aetna considers appropriate genetic counseling unrelated to pregnancy medically necessary for consideration of, or provi
Among broadest possible MDD (BP-MDD; at least one diagnosis of ICD10: F32-33), we assessed the prevalence of potentially exclusionary diagnoses that reflect enrollment requirements for deeply phenotyped clinical studies (e.g., lifetime exclusions for schizophrenia, bipolar, or intellectual ...
Carrier screening of female reproductive partner planning a pregnancy and has family history of AIS consistent with X-linked inheritance (i.,e., affected 46,XY individuals, manifesting heterozygous females (46,XX));or Prenatal testing in the offspring of the biological parent with confirmed AR muta...
To determine whether sequence variants with a strong deficit of homozygosity resulted from losses early or late in pregnancy, we examined the reproductive history of heterozygous carrier couples, looking for an excess of miscarriages or early death among their offspring. Also, we assessed the effects...
A cardiac condition marked by excessive growth of heart muscle cells, hypertrophic cardiomyopathy (HCM) is a complex genetic disorder characterized by left ventricular hypertrophy, microvascular ischemia, myocardial fibrosis, and diastolic dysfunction. Obstructive hypertrophic cardiomyopathy (oHCM), a subset ...
Genetic counseling is considered an essential part of the management of patients and families in which a genetic disorder has been diagnosed or who are at risk for such a disease. It provides patients the necessary information about the disease and their genetic profile. Also, it calculates the ...
and early-life environmental stresses, such as maternal smoking in pregnancy46. Gender was reported to play an important role in asthma as well; in females, asthma appears to be predominantly adult onset rather than pediatric47. More generally, investigators suggested that, in asthma, disease onset...
Deletions and duplications of the multigenic 16p11.2 and 22q11.2 copy number variant (CNV) regions are associated with brain-related disorders including schizophrenia, intellectual disability, obesity, bipolar disorder, and autism spectrum disorder (ASD)
Results Our study included 10,179 individuals with MDD and comprehensive EMR data (68% female; mean age at MDD onset: 50.8 years, range: 17-74 years). The average EMR length was 42 years, with 47 different ICD-10 codes per individual. The average duration of MDD was 6 years, with 4...
Hence, we studied the genetic associations of ICD-derived psychiatric diagnoses with self-reported mental health phenotypes in the UK Biobank. Methods We performed ICD10-based genome-wide association studies of depression, anxiety, schizophrenia, and bipolar disorder in five biobanks (n cases=1,517...