Carrier screening for Alport syndrome: The clinical importance of heterozygosity for pathogenic or likely pathogenetic variants
Souter, Vivienne; et al. J Genet Couns. 2025
Read More
Women's Health
Resources related to women's health needs to support family planning and prenatal testing.
-
-
Incidental finding of maternal sex chromosome aneuploidy from DMD carrier screening and single-nucleotide polymorphism (SNP)-based prenatal
Walker, J et al. J Genet Couns. 2025
Read More
-
Duran family's 22q story
The Duran family shares their 22q story, and the importance of early detection and diagnosis.
Watch Video
-
22q11.2 Deletion Syndrome (DiGeorge): Two cases, two outcomes. The importance of prenatal identification
22q11.2 deletion syndrome, also known as DiGeorge, is caused by a missing section of chromosome 22. It is more common than other conditions routinely screened for prenatally such as cystic fibrosis, s
Watch Video
-
Fetal RhD NIPT Patient Video - Vietnamese
Watch Video
-
Fetal RhD NIPT Patient Video - Spanish
Watch Video
-
Fetal RhD NIPT Patient Video - Russian
Watch Video
-
Fetal RhD NIPT Patient Video - Chinese
Watch Video
-
Fetal RhD NIPT Patient Video - Arabic
Watch Video
-
The Role of Genetic Testing in Pregnancy Loss
Watch Video
-
Evaluating Reproductive Carrier Screening using Biotinidase Deficiency as a Model: Variants Identified, Variant Rates and Management
Read More
-
Poor compliance with germline testing recommendations in colorectal cancer patients undergoing molecular residual disease testing
Read More
-
Chromosome segregation of human nonhomologous Robertsonian translocations: insights from preimplantation genetic testing
Read More
-
Accuracy of fetal fraction measurements in a single nucleotide polymorphismbased noninvasive prenatal test
Read More
-
Role of genetic analysis of products of conception and PGT in managing early pregnancy loss
Read More
-
The Role of cfDNA Biomarkers and Patient Data in the Early Prediction of Preeclampsia: Artificial Intelligence Model
Read More
-
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States
Read More
-
Fetal RhD NIPT: Transforming care for Rh negative pregnant patients
Until recently, there has not been a reason to diverge from the standard approach of giving Rh immune globulin to all Rh negative patients. That has changed with the introduction of fetal RhD NIPT, no
Watch Video
-
Fetal RhD NIPT Patient Video
Watch Video
-
Empower Gene Table - 81 Gene Panel Additional Cancer Risks
Read More
-
Loading More...
