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...

In recent years the prevalence of Down syndrome has been increasing. The increase in the prevalence might be partly explained by better compilation of statistics on Down syndrome today. Also, the mean maternal age at first delivery as well as the proportion of older moth‐ ers is increasing in all western countries and the risk of Down syndrome increases with ad‐ vancing maternal age [1]. The pr...

The 2011 SOGC clinical practice guideline "Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies" recommends that clinicians offer prenatal screening to all pregnant women and provide counselling in a non-directive manner. Non-directive counselling is intended to facilitate autonomous decision-making and remove the clinician's views regarding a particular course of action. However, r...

Purpose The clinical introduction of innovative prenatal genetic technologies challenges patients and providers to find new ways of fostering informed decision-making in a setting characterized by complexity and uncertainty. As prenatal genetic technology advances, important questions remain about how to structure patient-centered conversations that effectively prepare pregnant patients to make...

Prenatal screening for Down syndrome (DS) based on biomarker levels provides expectant parents with an estimated risk of a DS baby. The risk cutoff value of a prenatal screening test determines the detection and false positive rates and the selection of follow-up procedures, such as an invasive diagnostic test. Women who consider prenatal screening might face two undesirable outcomes: undetecte...

Current prenatal diagnosis uses non-invasive procedures of maternal serum screening and ultrasound exam to evaluate the risk of chromosomal abnormalities and invasive procedures of chorionic villus sampling and amniocentesis for the diagnosis of cytogenomic abnormalities and gene mutations. The discovery of cell free fetal DNA (cffDNA) in maternal blood prompted the application of massive paral...

Screening and diagnostic testing play fundamental roles in all fields of clinical medicine, with obstetric imaging and prenatal diagnosis being no exceptions. With advances in maternal serum screening and ultrasound technology, much research effort in the field of pre-natal diagnosis has actually been dedicated to the development and refinement of screening tests for fetal aneuploidy and other ...