background : aneuploidy is one of the main causes of congenital anomalies, mental and physical disabilities, in new-borns. the aim of this study was to determine various chromosomal aneuploidies in the first and second trimester screening of pregnant women, in iran. methods : a descriptive retrospective study was conducted on 125,170 pregnant women referred to a major referral medical diagnosti...

background: iran is one of the countries located on “the thalassemia belt” with a significant annual number of thalassemia new births. given the importance of thalassemia prevention, a program to this effect was approved in iran in 1995. screening of carrier couples and prenatal diagnosis were the two main elements of this program. in the present study, the authors have tried to address the imp...

OBJECTIVE To assess prospectively the diagnostic reliability and prognostic significance of prenatal diagnosis of cytomegalovirus (CMV) infection. METHODS One hundred ten pregnant women (four with twin pregnancies) with a risk of congenital CMV infection were investigated. Prenatal diagnosis was carried out by amniocentesis and fetal blood sampling (n = 75) or amniocentesis alone (n = 35). Se...

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...