Abstract Noninvasive prenatal testing (NIPT) has revolutionized the screening methods for fetal chromosomal aneuploidies with high utility common chromosomes 13,18, 21, X and Y. Trisomy 13 is often associated major minor malformations can be screened by antenatal scan first- second-trimester biochemical screening. We describe a case risk trisomy on NIPT, but without any abnormalities scan. As r...

Background: Prenatal detection of genetic abnormalities is one the biggest challenges current fetal medicine. screening for chromosomal can be done using biochemical tests. The a risk estimation test and not diagnostic test. Methods: Statistical data treatment had been performed on sample 362 pregnant women prenatal screening. This was retrospective analysis study undertaken at National Referen...

The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF) embryos. Preimplantation genetic diagnosis (PGD) or screening (PGS) involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical...

OBJECTIVE We sought to assess performance of noninvasive prenatal testing for fetal trisomy in a routinely screened first-trimester pregnancy population. STUDY DESIGN This was a cohort study of 2049 pregnant women undergoing routine screening for aneuploidies at 11-13 weeks' gestation. Plasma cell-free DNA analysis using chromosome-selective sequencing was used. Laboratory testing on a single...

We evaluated the system accuracy of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using cell-free fetal DNA in maternal plasma. Previous studies were searched in the MEDLINE database using the following keywords: "prenatal" and "aneuploidy" and "noninvasive or non-invasive" and "maternal". Identified studies were filtered using a QUADAS instrument. Four studies were id...