Noninvasive Methods can Reduce Procedure-related Miscarriages Before Birth

The efficiency of noninvasive techniques such as a blood test for fetal trisomies 13, 18 and 21 is being discussed in this study. The findings of this study have been reported in Institute For Quality And Efficiency In Health Care website.

In non-invasive prenatal diagnosis (NIPD), in contrast, the pregnant woman's blood is tested for the fetal trisomies 13, 18 and 21. The Federal Joint Committee (G-BA) commissioned the German Institute for Quality and Efficiency in Health Care (IQWiG) to analyze studies on the diagnostic characteristics of these tests and to outline hypothetical scenarios of a possible integration into prenatal care.

NIPT Detects More Than 80 Percent of Chromosomal Abnormalities: Study
Researchers will report that noninvasive prenatal testing detected 83.2 percent of chromosomal abnormalities normally picked up by invasive diagnostic testing strategies, such as chorionic villus sampling (CVS) or amniocentesis.

‘If pregnant women at an increased risk of fetal trisomy 21 were offered an NIPD, some of the miscarriages caused by invasive testing could probably be prevented.’

Many unknown variables

No robust estimations of the sensitivity and specificity of the tests on the rare trisomies 13 and 18 are possible. With over 99 percent for trisomy 21, sensitivity and specificity of the tests are similar to those of invasive methods.

If pregnant women at an increased risk of fetal trisomy 21 were offered an NIPD, some of the miscarriages caused by invasive testing could probably be prevented. More detailed conclusions on the German healthcare situation are not possible:

Simple Foetal Blood Test Soon To Predict Chromosomal Abnormalities
Researchers in The Netherlands are on the verge of developing a simple, prenatal blood test that would be able to detect accurately chromosomal abnormalities in the developing foetus.

More precise modeling would require knowing the proportions of women of different ages who have invasive or non-invasive testing or who do not make use of such testing - for example, because they want to have the child in any case. These numbers are not known for Germany, however.

Source-Eurekalert

Researchers Find New Clue to Causes of Birth Defects
Researchers have found a possible clue to why older mothers face a higher risk for having babies born with conditions such as Down syndrome that are characterized by abnormal chromosome numbers.

Empowered Prenatal Diagnostic Environment In Which DNA Sequencing Becomes The Standard Of Care
Scientists reported that the whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days.