Case Report: Preimplantation Genetic Testing and Pregnancy Outcomes in Women With Alport Syndrome.

ABSTRACT:

Background

Alport syndrome, a monogenic kidney disease, is characterized by progressive hemorrhagic nephritis, sensorineural hearing loss, and ocular abnormalities. Mutations in COL4A5 at Xq22 accounts for 80-85% of X-linked Alport syndrome patients. Three couples were referred to our reproductive genetics clinic for prenatal or preconception counseling.

Methods

Prenatal diagnoses were performed by amplifying targeted regions of COL4A5. Targeted next-generation sequencing (NGS)-based haplotype analysis or karyomapping was performed in two patients. Pregnancy outcomes in the three patients were collected and analyzed. Published Alport syndrome cases were searched in Pubmed and Embase.

Results

Prenatal diagnoses in two cases showed one fetus harbored the s

SUBMITTER: Shi WH 

PROVIDER: S-EPMC7900551 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature