OBJECTIVE To examine the performance of the 11-13 weeks scan in detecting non-chromosomal abnormalities. METHODS Prospective first-trimester screening study for aneuploidies, including basic examination of the fetal anatomy, in 45 191 pregnancies. Findings were compared to those at 20-23 weeks and postnatal examination. RESULTS Aneuploidies (n = 332) were excluded from the analysis. Fetal a...

The aim of the study is to investigate the efficiency of the second-trimester biochemical screening, with maternal serum alpha-fetoprotein (MS-AFP) and free beta-subunit of human chorionic gonadotropin (free beta-hCG), during the ten-year period. The study included 11,292 of pregnant women between the 15th and 18th gestational week, who underwent screening from November 1996 to December 2006. T...

BACKGROUND Despite being deliberately targeted to common chromosome aneuploidies, the rapid quantitative fluorescent polymerase chain reaction (QF-PCR) tests can detect the majority of chromosome abnormalities in prenatal diagnosis. The main advantages of this assay are low cost, speed and automation allowing large-scale application. METHODS We developed a QF-PCR test that was applied on 43 0...

INTRODUCTION Nowadays, an important decision for pregnant women is whether to undergo prenatal testing for aneuploidies and which tests to uptake. We investigate the factors influencing women's choices between non-invasive prenatal testing (NIPT) and invasive prenatal tests in pregnancies with elevated a priori risk of fetal aneuploidies. METHODOLOGY This is a mixed-method study. We used medi...

Introduction The Washington Health Technology Assessment (HTA) program has been guiding coverage decisions in the state since 2007. Center for Evidence-based Policy works with to develop evidence-based HTA reports. In 2020, we presented an on cell-free DNA prenatal screening chromosomal aneuploidies. committee’s discussion, questions around access tests and care more generally were raised. We p...

BACKGROUND Aneuploidy is one of the main causes of congenital anomalies, mental and physical disabilities, in newborns. 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 diagnostic l...

Hydatidiform mole is an aberrant pregnancy with abnormal embryonic development and hydropic placental villi. Common moles are sporadic, not recurrent and affect one in every 1500 pregnancies in Western societies. Approximately, half of common moles are complete and mostly diploid androgenetic, whereas the remaining are partial and mostly triploid diandric. NLRP7 has been found to be responsible...

Objectives: The currently available methods for rapid prenatal diagnosis of common chromosomal aneuploidies are either Inter-phase-Fluorescence in Situ Hybridisation (I-FISH) or Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR). QF-PCR represents a rapid, high throughput, cost-effective alternative for Interphase-FISH. The objective of the study was to evaluate the performance of QF-P...

OBJECTIVES Evaluation of Fluorescent in situ hybridization (FISH) as a tool for rapid aneuploidy screening (RAS) of high risk pregnancies, before its approval in the national antenatal screening and genetic diagnosis program in Egypt. METHODS The cytogenetic data of prenatal specimens, and results of FISH of 100 patients performed between, January 2009 and December 2009, at the Medical Geneti...

OBJECTIVE To assess whether the maternal serum ADAM12s concentrations are altered in the first and second trimester of pregnancies complicated by rare aneuploides. METHODS ADAM12s was measured by a semi-automated time-resolved immunofluorometric assay in a series of 60 first-trimester cases with trisomy 13, 78 first-trimester cases with Turner's syndrome, 38 first-trimester cases with triploi...