A critical step in planning a successful study is choosing the appropriate design to feasibly answer the clinical question at hand. We provide an overview of common study designs, discuss their advantages and disadvantages, and provide practical examples from the prenatal diagnosis and ultrasound literature. In addition, we highlight specific design considerations that need to be built into the...

BACKGROUND Non-invasive prenatal diagnosis (NIPD) for sickle-cell disorder (SCD) is moving closer to implementation and studies considering stakeholder preferences are required to underpin strategies for offering NIPD in clinical practice. OBJECTIVE Determine service user and provider preferences for key attributes of prenatal diagnostic tests for SCD and examine views on NIPD. METHOD A que...

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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...

AIM To estimate the level of awareness of prenatal screening (PS) and explore the underlying demographic, lifestyle and medical history parameters of Greek and non-Greek pregnant women undergoing prenatal diagnosis. PATIENTS AND METHODS A structured questionnaire was answered by 354 women at the time of receiving the results of invasive prenatal testing. Summary statistics and multiple logist...

OBJECTIVE Non-invasive prenatal testing (NIPT) for trisomies 13, 18 and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Here, we aim to present minimum best practice guidelines. METHODS All laboratories registered in the three European quality assurance schemes for mole...

Prenatal diagnosis pf chromosomal abnormalities can be accurately made by cytogenetic studies of samples obtained from invasive procedures, such as amniocentesis or chorionic villus sampling. Because these procedures are associated with a risk of miscarriage, the common approach is to perform non-invasive test to define an individual woman's risk of having a chromosomal abnormal pregnancy. Scre...

UNLABELLED Non-invasive prenatal testing (NIPT) of fetal aneuploidy using cell-free fetal DNA is becoming part of routine clinical practice. RAPIDR (Reliable Accurate Prenatal non-Invasive Diagnosis R package) is an easy-to-use open-source R package that implements several published NIPT analysis methods. The input to RAPIDR is a set of sequence alignment files in the BAM format, and the output...

Congenital heart disease is the leading cause of birth defect worldwide. Genetic mutation is a major contributor to certain types of congenital heart diseases, such as Tuberous sclerosis (TSC) and Marfan syndrome. Here I introduce a feasible pipeline for prenatal diagnosis of congenital heart diseases. Patients are enrolled due to either familial history of genetic mutation or abnormality durin...