Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patients
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24441
Abstract: Array‐based genomic analysis is a gold standard for the detection of copy number variations (CNVs) as an important source of benign as well as pathogenic variations in humans. The introduction of chromosomal microarray (CMA) has… read more here.
Keywords: neurodevelopmental disorders; microarray postnatal; postnatal diagnosis; chromosomal microarray ... See more keywords
Correlation of Prenatal and Postnatal Diagnosis in Umbilical-Portal-Systemic Venous Shunts
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Pediatric Surgery"
DOI: 10.1055/s-0042-1760379
Abstract: Abstract Introduction Umbilical-portal-systemic venous shunts (UPSVS) are rare anomalies in the development of the fetal venous system. There are several postnatal and prenatal classifications of hepatic venous anomalies but the link between them is missing.… read more here.
Keywords: umbilical portal; systemic venous; postnatal diagnosis; portal systemic ... See more keywords
Extended survival of a premature infant with a postnatal diagnosis of complete triploidy
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DOI: 10.1136/bcr-2021-244551
Abstract: Triploidy is a common chromosomal abnormality that usually results in spontaneous abortion. Liveborn infants usually die within hours or days of birth. We present the case of a female infant born at 30 weeks and… read more here.
Keywords: complete triploidy; triploidy; diagnosis complete; infant ... See more keywords