Summary: Report of the IBC on Updating Its Reflection on the Human Genome and Human Rights

Image: Stephen Dixon and Feng Zhang
Image: Stephen Dixon and Feng Zhang

ibc


[Read the full report here.]

We are human because of the interplay of many biological, historical, and cultural determinants, which preserve the feeling of our fundamental unity and nourish the richness of our diversity. This is why the human genome is one of the premises of freedom itself and not simply raw material to manipulate at leisure. Scientific advancements in this field are likely to offer unprecedented tools against diseases. Therefore, it is crucial to acknowledge that these opportunities should never become the privilege of the few. What is heritage of humanity entails sharing both responsibilities and benefits.” (pg 4)

Continue reading Summary: Report of the IBC on Updating Its Reflection on the Human Genome and Human Rights

NIPT Outperforms Standard Screening for T21 but False Positives Call for Caution, NEJM Studies Find

Cell-free DNA Analysis for Noninvasive Examination of Trisomy NEJM Original article

Accurate Description of DNA-Based Noninvasive Prenatal Screening NEJM Correspondence

Use of Cell-free DNA to Screen for Down’s Syndrome NEJM Editorial

Copy-Number Variation and False Positive Prenatal Aneuploidy Screening Results NEJM Brief Report

GenomeWeb – Noninvasive prenatal testing (NIPT) for trisomies and other chromosomal aneuplodies using cell-free DNA from the mother’s blood has been spreading quickly in maternal-fetal medicine in recent years and is poised to move from high-risk to average-risk pregnancy populations.

Three new studies, published online in the New England Journal of Medicine today, shed light on how these tests may be best integrated into clinical care for all pregnant women.

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Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?

April 2 , 2015 GIM article: Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?

Biochemical-Screening

In 2012, the American Congress of Obstetricians and Gynecologists (ACOG) recommended that next-generation sequencing of maternal plasma for fetal aneuploidy be offered as a secondary screening option to women already identified as having a high risk pregnancy. However, some commercial labs are extending the offering as a main screening option to even women with low risk pregnancies. With more people using the maternal plasma DNA testing, are the rates of routine serum screening being reduced? Continue reading Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?