Parents all want the perfect pregnancy and a perfect child. What is perfect? Why is perfect important? Is being perfect the most important thing? Is peer pressure to have that perfect child so influential that some one would be willing to end their pregnancy? Are companies more concerned with making money than actually caring about the parents and unborn babies?

I do not think potential parents are given enough information when faced with a prenatal diagnosis of Down Syndrome or other potential disability. When we were given the prenatal diagnosis of Down Syndrome for our son, the first thing the doctor asked was "Do you want to terminate this sick baby?" We did not go out looking to get a prenatal screening. We declined the testing when it was offered at the regular time that prenatal testing is done during a pregnancy. An abnormality was found during a routine ultrasound while we were pregnant was discovered. We had prenatal testing to determine what was causing the abnormality. We were given our diagnosis. And in the next breath, the doctor asked if we wanted to terminate....... What, no discussion, education about Down Syndrome. Just get rid of the sick baby. WOW. How many other parents are given the option of terminating before any other options are discussed?

We did not give termination one thought. We wanted to know what we could do to keep both of our beautiful babies healthy. We came out fighting from the moment of our diagnosis. Fighting for the rights of our sons.

Lately in the news, new testing for Down Syndrome have been making a splash in the prenatal market. And companies are makes lots and lots of money off of this testing. And more companies are jumping into the screening market. With prenatal screening should come the responsibility of education of parents given a diagnosis of a child with a disability.

Sequenom Increases Expected Billings for MaterniT21 Plus to 40,000 in 2012

April 16, 2012

NEW YORK (GenomeWeb News) – Sequenom today raised its estimates for the number of billed MateriT21 Plus tests for 2012 to 40,000 as adoption of the test accelerated during the first quarter.

The San Diego-based firm had previously forecast 25,000 billings for the non-invasive fetal aneuploidy test for the year.

In the first quarter, Sequenom saw more than 12,700 total tests, including more than 4,900 MaterniT21 Plus tests, accessioned in Q1, it said. Based on the volume processed during the last week of the quarter, the annualized run rate for MaterniT21 Plus would be more than 30,000 tests.

Sequenom Chairman and CEO Harry Hixson said that the firm's lab, the Sequenom Center for Molecular Medicine, has seen samples received and billed in early 2012 increase weekly.

"We expect this trend to continue with Sequenom Center for Molecular Medicine's sustained commercial efforts throughout the year and have increased the internal goal to reflect our optimistic outlook," he said in a statement.

Sequenom's first-quarter earnings are scheduled for release after the close of the market on May 3.

In early Monday trade on the Nasdaq, shares of Sequenom were up 10 percent at $4.39.

Sequenom Inks Deal with MultiPlan to Include MaterniT21 Plus Test

April 19, 2012

NEW YORK (GenomeWeb News) – Sequenom today announced an expanded agreement with healthcare cost management firm MultiPlan to include the MaterniT21 Plus LDT test for fetal aneuploidies.

As a result of the deal, MultiPlan's network of 900,000 providers will have access to Sequenom's test for trisomy 21, 18, and 13. The test was launched in October.

One of Sequenom's goals for 2012 is to sign two major national insurers as well as smaller payors in order to drive up adoption of the test. Earlier this week, the companyincreased its estimates for the number of billed MaterniT21 tests to 40,000 in 2012, up from a previous forecast of 25,000.

Early prenatal test raises ethical questions

February 22, 2012 11:09 AM

By: Erica Hil; l

Prenatal testing has turned into an unlikely campaign issue. Presidential candidate Rick Santorum said this week that some tests, in his words, "encourage abortions."

Santorum stands by prenatal screening opposition

"CBS This Morning" took a look at a new test that reveals birth abnormalities at a much earlier stage. The test is sure to give many more pregnant women and their families a lot to think about.

Recent advancements in genetics have helped doctors develop a safer test for Down syndrome than amniocentesis, an invasive procedure that can identify many genetic disorders but can also result in miscarriage.

The new test, called the MaterniT21, can be administered at just 10 weeks and is nearly 100 percent accurate. The test works by analyzing the mother's blood and counts fragments from the fetus's DNA to identify the presence of an extra chromosome, which can signify Down syndrome.

According to Dr. Brian Skotoko, a medical geneticist at Children's Hospital Boston, this is the beginning of a new era of prenatal screening.

"There is no risk to the fetus - a simple blood drop from your arm. This new test raises a provocative question of how much do we test for and do we as a society draw the line?" Skotoko told CBS News.

Expectant parents are routinely offered prenatal testing for various genetic disorders -- not just Down syndrome. The tests may lead to more difficult decisions for many parents.

Melanie McLaughlin, a mother who decided to go through with her pregnancy following a test that indicated her baby would have Downs syndrome, said of the latest test, "If it's not for Down syndrome what is it for? Is it for homosexuality? Is it for breast cancer? Is it for Alzheimer's? Is it for, you know, autism? Because you're going to need to ask those questions, because they're coming."

The earlier testing means mothers are going to be challenged with a decision earlier in their pregnancies, Dr. Paul Root Wolpe, director of the Center for Ethics at Emory University, said on "CBS This Morning."

"If they do choose to terminate the pregnancy, it will be a less complicated procedure," Wolpe said. "... More and more women are going to be facing tough decisions as this test and similar tests are developed."

Research from the U.K. suggests that for most women -- more than 90 percent studied -- would have an abortion if she knew she were having a baby with Down syndrome.

"Do you think this could lead to a world without Down Syndrome kids," Gayle King asked.

Wolpe said it's unlikely. In the U.S., that statistic on women aborting over Down syndrome may be lower.

"Some women will not get the test, other women choose...not to abort even though they have the information," Wolpe said. "... I don't think that we're going to end up, at least in the foreseeable future, in a world without kids with Down syndrome, and many parents, I think actually take the path (of not aborting) and end up very glad they did."