the first step in the prenatal diagnosis of x-linked genetic disorders is determining fetus gender. current invasive methods to obtain the dna source of the fetus instead of its miscarriage risk, has harmful stress for high risk pregnancies. cell free fetal dna (cffdna) circulating in the maternal blood, has now become a useful source of noninvasive prenatal diagnosis. considering limitation of...

The objective of this review is to assess the evidence which supports the use of non-invasive prenatal diagnosis (NIPD) in twin pregnancies. Through the years, we have witnessed the technological developments in non-invasive prenatal diagnosis attained new heights, but those studies were usually limited in singleton pregnancies. As we known, twin pregnancies are at higher risk in both aneuploid...

In this article, we will review the history and the evolution of the technique of amniocentesis and the indications of the most common invasive diagnostic and therapeutic procedure. Moreover, the most common complications of amniocentesis will be presented. Finally, we will try to establish if the use of con current ultrasound had any effect on the prevalence on these complications.

Prenatal diagnosis, traditionally used as a synonymous for invasive fetal testing and evaluation of chromosomal constellation, presently encompasses many other issues like pedigree analyses, fetal risk assessment, population screening, genetic counseling and fetal diagnostic testing as well. Ultrasound guided chorionic villus samling (CVS), amniocentesis and, to a lesser extent, fetal blood sam...

context prenatal testing aims to identify fetal chromosomal and genetic disorders prior to delivery. current invasive procedures such as amniocentesis and chorionic villus sampling (cvs) pose a risk to mother and fetus and such diagnostic procedures are available only to high-risk pregnancies, which limits aneuploidy detection rate. the identification of cell-free fetal dna (cffdna) in maternal ...

Discovery of cell free fetal DNA in 1997 has deeply changed the outlook of prenatal diagnosis approaches as most of the clinically established screening tests are not sensitive/specific enough while the current practical diagnostic tests are also invasive in their nature. The most common prenatal screening test is routinely practiced for the diagnosis of Down syndrome (DS) which includes a 10% ...

About 40 years ago, invasive prenatal diagnosis techniques were introduced in obstetrics. Initially, amniocentesis was performed followed by placentacentesis, fetoscopy, fetal blood sampling (FBS), and chorionic villus sampling (CVS). These procedures, while invading the uterine environment, have made it possible to proceed with the retrieval of biological tissue of fetal origin for analysis an...

In Singapore, 1 in 5 pregnancies occur in mothers > 35 years old and genetic diseases, such as thalassaemia, are common. Current methods for the diagnosis of aneuploidy and monogenic disorders require invasive testing by amniocentesis, chorion villus biopsy or fetal blood sampling. These tests carry a procedure-related risk of miscarriage that is unacceptable to many couples. Development of non...

Background and Aims: New advances in the use of cell-free fetal DNA (cffDNA) in maternal plasma of pregnant women has provided the possibility of applying cffDNA in prenatal diagnosis as a non-invasive method. One of the applications of prenatal diagnosis is fetal gender determination. Early prenatal determination of fetal sex is required for pregnant women at risk of X-linked and some endocrin...