Cell-free DNA screening for trisomies 21, 18 and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation.
Sign Up to like & getrecommendations! Published in 2022 at "American journal of obstetrics and gynecology"
DOI: 10.1016/j.ajog.2022.01.019
Abstract: BACKGROUND Cell-free DNA (cfDNA) non-invasive prenatal screening for trisomy (T) 21, 18, and 13 has been rapidly adopted into clinical practice. However, prior studies are limited by lack of follow up genetic testing to confirm… read more here.
Keywords: dna; risk; genetic confirmation; risk aneuploidy ... See more keywords
Familial polycystic kidneys with no genetic confirmation: Are we sure it is ADPKD?
Sign Up to like & getrecommendations! Published in 2022 at "Clinical nephrology"
DOI: 10.5414/cn110822
Abstract: Autosomal dominant polycystic kidney disease (ADPKD) is the most common heritable multifocal cystic disease encountered in clinical practice, and it is usually diagnosed in patients with family history by the evidence of markedly enlarged kidneys… read more here.
Keywords: familial polycystic; kidneys genetic; genetic confirmation; heritable multifocal ... See more keywords