ACMG Posters: studies do not support professional recommendations

I attended and presented a poster at this year's American College of Medical Genetics & Genomics conference, held in Nashville, Tennessee. Here's what some of the other posters reported on the research their authors had conducted regarding prenatal testing. Continue Reading

Your MaterniT21 test is NEVER positive

And it's NEVER negative, either. Continue Reading

We shouldn’t have to justify children with Down syndrome being born

Rachel Adams, the author of Raising Henry, has a piece in the new issue of American Journal of Medical Genetics, Part A. You should read it and its lines should be inscribed in offices around the world.  Continue Reading

People with Down syndrome are not costs to be avoided through prenatal testing

I shouldn't even have to say this. Continue Reading

Breaking news: prenatal testing for Down syndrome done right from now on

Prenatal testing for Down syndrome will be done right going forward from today. Continue Reading

Photo tour of 2014 ACMG Meeting

Here are some images from the 2014 ACMG annual meeting. Take a photo tour with me: Continue Reading

Society for Maternal-Fetal Medicine: Non-Invasive Prenatal Screening not ready for general population

The recent New England Journal of Medicine study has been reported by the media as meaning non-invasive prenatal screening is ready for the general population. The Society for Maternal-Fetal Medicine disagrees. Continue Reading

Webinar on new Down syndrome prenatal testing available now

On Tuesday, Dr. Brian Skotko and I presented a webinar on the new prenatal testing for Down syndrome and resources for support organizations. You can watch it now on-line.  Continue Reading

3 points about the Illumina Down syndrome prenatal testing study

A study released in February 2014 did lead to non-invasive prenatal screening (NIPS) being offered to all expectant women. Here's three points about the new study: Continue Reading