Non-invasive prenatal diagnosis: another new concept in need of a definition

Invasive or non-invasive prenatal genetic diagnosis?

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...

Non-invasive prenatal diagnosis of Down's syndrome.

Down syndrome (trisomy 21), which has an incidence of 1 in 800 live births, is considered to be the most frequent etiology of mental retardation and it is the predominant reason for women seeking prenatal diagnosis [Driscoll & Gross, 2009]. Trisomy 21 is used as a benchmark because it is the most common aneuploidy compatible with life and is associated with mental retardation and serious congen...

Non Invasive Prenatal Diagnosis of Down Syndrome

Non-invasive prenatal diagnosis: improved detection rates.

In the Prenatal Diagnosis special issue of July 2010, a good prediction was made by the author (Dennis Lo, 2010) on non-invasive methods of diagnosis of fetal anomalies. Non-invasive prenatal diagnoses are useful in the detection of fetal genetic abnormalities, aneuploidies and high-risk pregnancy. Fetal DNA analysis in maternal plasma using single molecule analysis method, no doubt, will defin...

Rapid and Non Invasive Prenatal Diagnosis

Prenatal screening and diagnosis are routinely offered at antenatal care clinic visits, and are important in decision making about the continuation of pregnancies affected by genetic conditions for which there are no cures, and prevention through therapeutic abortion is a reasonable option. Prenatal screening is offered to all pregnant women and include fetal ultrasonography and maternal serum ...