The blood test uses the mother’s plasma to extract Genetic information about their unborn baby.  The test can be used to determine if the unborn baby carries specific genetic abnormalities, such as muscular dystrophy, this test can be conducted shortly after conception.

Currently, testing for genetic abnormalities and gender cannot be carried out until at least 9 weeks and as late as 24 weeks.  The current methods of testing are either through a Chorionic Villus Sampling (CVS) or an Amniocentesis.

Chorionic Villus Sampling (CVS) is a medical procedure conducted by an OBGYN that is typically performed between 9 – 13 weeks gestational age, which is often mistakenly referred to Chronic Villus (or Villi) Sampling. CVS is a vaginal procedure that removes a very small portion of the placenta.

Amniocentesis is a medical procedure conducted by an OBGYN that is typically performed between 14 – 24 weeks gestational age. The amniocentesis procedure involves insertion of a needle into the womb and drawing out approximately 10cc’s of amniotic fluid, which surrounds the unborn baby.

Professor Michael Chapman, head of women’s and children’s health at the University of NSW, said that this new testing method was the “holy grail” of research.  “Scientists have been chasing this for about 25 years,” he said. “The biggest advantage of this in a wanted pregnancy is there is no risk of miscarriage during testing.”

The research team from the University Medical Center, in The Netherlands, used the test on 200 women. Only in 10 cases could the gender not be determined.  The procedure works by taking a sample from the mother’s blood plasma and extracting fetal DNA, which circulates in the mother’s blood. Looking for a specific gene sequence, doctors can then determine if the baby is a boy or a girl and is a carrier of specific disorders.  In most cases, the test will be performed on a seven-week-old fetus.

But Australian obstetricians warn the medical breakthrough is unlikely to be used in Australia because it could be used for gender selection and due to “ethical and moral” dilemmas.

The test did not address the fact that fetal DNA that is found in a mother’s blood can be from previous pregnancies even years later.  The research have not address how to determine if the DNA is from the current fetus.  While their are some DNA testing companies that have offered to use “simple” blood test to determine paternity for several years.  These test can often be unreliable.   While this new test promise great answer at no risk there are still some very big questions that haven’t been answered.

News.com.au

Most if not all states have a law that looks something like this:

(1) A man is presumed to be the father of a child if:

(a) He and the mother of the child are married to each other and the child is born during the marriage;

(b) He and the mother of the child were married to each other and the child is born within three hundred days after the marriage is terminated by death, annulment, dissolution of marriage, legal separation, or declaration of invalidity;

(c) Before the birth of the child, he and the mother of the child married each other in apparent compliance with law, even if the attempted marriage is, or could be, declared invalid and the child is born during the invalid marriage or within three hundred days after its termination by death, annulment, dissolution of marriage, legal separation, or declaration of invalidity; or

(d) After the birth of the child, he and the mother of the child have married each other in apparent compliance with law, whether or not the marriage is, or could be declared invalid, and he voluntarily asserted his paternity of the child, and:

(i) The assertion is in a record filed with the state registrar of vital statistics;

(ii) Agreed to be and is named as the child’s father on the child’s birth certificate; or

(iii) Promised in a record to support the child as his own.

(RCW 26.26.116 Presumption of paternity in context of marriage. on leg.wa.gov)

While this law might seem reasonable to many it does not take into account that it is estimated that 40% of wives will have an affair at some point in their marriage (www.caughthercheating.com) What if that child is not the husbands?

The second way is for the father and mother to sign Voluntary Acknowledgment of Paternity form at the hospital when you have your baby. The hospital staff will give you this form and help you complete it. When you and the child’s father sign the Voluntary Acknowledgment of Paternity form, the father’s name will be placed on the birth certificate.

If you and the baby’s father are unable to sign the Voluntary Acknowledgment of Paternity form at the hospital, you may complete it at home. Your signature must be witnessed by someone over 18 years old, and by a person not named on the voluntary acknowledgment.

You don’t have to be the biological father to sign this form there is no proof required you are stating you are the father and will be responsible the moment you sign this from. Most states but not all have laws that allow you to challenge paternity that is assigned based on the Voluntary Acknowledgment of Paternity. They typically have a set time period with in which you can contest your paternity.

The third way is to have paternity assigned to you by a court. This can happen if the alleged father does not responded to a woman’s claim for paternity or if the Judge or Jury feels that it is in the best interest of the child. For example a section of Missouri’s bill requires courts to balance the best interests of the child and the hardships of the man who is contesting paternity regardless of a DNA test proving that he is not the father.

“James McClendon knows he’s not the biological father of his ex-girlfriend’s 16-year-old son. He’s got a DNA test to prove it. But his wages are trimmed each month to pay thousands in child support debt. McClendon, who lives in St. Louis, has been fighting a 10-year legal battle to overturn a paternity ruling that says he’s the child’s father. Between legal bills, supporting his three biological children and several failed jobs, he’s built up $25,000 in child support debt.” (States move to allow DNA paternity challenges, By LEE LOGAN The Associated Press www.kansascity.com)

Stories like this are not all that uncommon unfortunately and have been a leading reason why in over 30 states laws are being or have been enacted to allow men to challenge paternity with a DNA test. A major force lobbying for changes to paternity laws is Carnell Smith, an engineer in Atlanta. Smith successfully lobbied for a Georgia law that allows men to challenge paternity at any time. Smith who calls himself a victim of “paternity fraud,” used this same law to erase his own paternity ruling in 2003. Carnell Smith has formed a national organization lobbing for similar laws in other states.

An AMNIOCENTESIS is a procedure which removes a small sample of amniotic fluid that surrounds a fetus. Amniotic fluid contains fetal cells and waste products which are discharged from the fetus. These cells can provide genetic, or DNA, information just like blood or a cheek swab.  The Amniocentesis procedure is performed by an OBGYN  by inserting a needle through the mother’s abdomen and into the uterus. Approximately 2 Tbsp of amniotic fluid is drawn out, which is then shipped via overnight mail on blue ice and tested in the laboratory. An Amniocentesis is performed, on average, between weeks 14 and 24 of the pregnancy.

The fluid that is obtained through the draw can be used to test the parentage of the child, or in determining the sex of the child,  in addition to screening for over 100 types of disease inherited from the family.  Examples of these diseases are Down Syndrome, Cystic Fibrosis, Sickle Cell disease, and Huntington’s disease.  While this procedure is routinely performed and can be safe, some risks are involved and the pregnancy can be endangered. This is why most physicians do not want to perform the procedure unless it is medically necessary. (A DNA Paternity test is not deemed medically necessary.)

RISKS: During an Amniocentesis there is the possibility of injury to the mother or the fetus from the needle.  The most common injury occurs from puncturing the placenta, but it is also possible that an infection can occur due to the introduction of bacteria into the amniotic fluid, as well as cramping, bleeding and leakage of Amniotic fluid.  This procedure also carries some risk of causing a miscarriage and when it is performed prior to 15 weeks. Studies have also shown an increased risk that the fetus will develop clubfoot from the procedure.  Unfortunately, all pregnancies have a risk for miscarriage, whether a test was performed or not. In the second trimester (when an amniocentesis is typically performed), the normal risk for miscarriage is between 2-3%. The risk for miscarriage is increased slightly with amniocentesis and the risk of amniocentesis-related miscarriage is 1 in 250 to 1 in 300.

CHORIONIC VILLUS SAMPLING, or CVS for short, is a test that can find certain problems with a fetus. CVS is performed late in the first trimester, most often between the 10th and 14th week.

CVS samples can be collected in one of two ways -  either by putting a thin flexible tube (catheter) through the vagina and cervix directly into the placenta (transcervical CVS),  or by inserting a long needle through the belly into the placenta (transabdominal CVS), which is similar to the amniocentesis procedure. The method that is used is dependent upon the position of the placenta and uterus. This will be determined the day of the procedure during the ultrasound examination. A thorough ultrasound examination is performed prior to and during the procedure.

The type of sample that is taken during a CVS procedure are the Chorionic Villus Cells. Chorionic Villi are similar to tiny fingers and grow inside the placenta. The genetic material inside these cells are the same as those found in the fetus’s cells.

The reasons for having a CVS performed are the same as those for an Amniocentesis -  to determine health of the fetus and parentage, if necessary.

RISKS: Just like the Amnio, there are some risks involved with the CVS procedure.  They include infection of the uterus, cramping, spotting, leakage and miscarriage. While miscarriages may occur following CVS, many can be unrelated to the CVS procedure. Studies in the United States and in Europe now suggest that the risk for CVS-related miscarriage is between 1/100 – 1/200.

While both tests offer the possibility of grave risks, the benefits can be educational or rewarding. The knowledge about your baby and it’s health can be good news, if there were concerns, or will have a different outcome which will influence your preparation for a new family member.  You might need to make special arrangements for birthing or for the child’s life and care.

When prebirth Paternity DNA Testing is being considered by the mother, her OBGYN must be consulted. The physician will be the one to approve and perform the test and therefore, the mother must begin with a visit to her doctor. As stated above, in most cases, an OBGYN will not want to perform either of these procedures if it is just for a Paternity Test, which is not medically necessary, as the risks can be too great. Some doctors have even told their patients that this kind of test is not even possible. This is not true.

If the mother is already planning on having one of  these procedures performed (which should be covered by insurance ) the doctors office will send the samples to a genetics lab for which ever test is needed. That lab can then grow more cells and send them along to a DNA Paternity Testing lab.  Mother will usually be granted a prebirth procedure if she has an abnormal ultrasound, has a family history of certain birth defects, has previously had a child or pregnancy with a birth defect, or will be 35 or older at the time of delivery.

If the mother is not planning of having one of the procedures, and her doctor still approves the procedure, she will most likely have to pay the OBGYN thousands of dollars for the procedure, on top of the DNA testing fee and shipping.

In all cases, a prebirth, prenatal DNA Paternity Test begins with a consult at the OBGYN, for methods, risks, approval or denial. DNA Testing is then performed when the mother and possible father have their samples collected, typically via cheek swab, and sent to the Paternity Testing Lab.

Sources:

http://www.webmd.com/baby/guide/amniocentesis

http://www.webmd.com/baby/guide/chorionic-villus-sampling

http://www.reproductivegenetics.com

Up to this date, diagnosis has always been based on behavior – the child must exhibit at least six symptoms, such as lack of social or emotional reaction, repetitive use of language, problems with all types of communication and a fixation with objects. Autistic children may fail to respond to their name and often avoid eye contact with others. They have difficulty interpreting what people are thinking or feeling because they can’t understand social cues, such as tone of voice or facial expressions, and they don’t watch other people’s faces for clues about appropriate behavior. In a nutshell, they lack empathy.

Unfortunately, Autism is a common disease and effects approximately 1 in 150 births, according to the Centers for Disease Control and Prevention in 2007. This means as many as 1.5 million Americans today are believed to have some form of autism.

Based on statistics from the U.S. Department of Education, autism is growing at an alarming rate of 10-17 percent per year, and affects all races and ethnicities. At this rate, it is estimated that autism could affect 4 million Americans in the next decade! And although the overall incidence of autism is consistent around the globe, it is four times more prevalent in boys than in girls.

So how does Autism occur? What causes it to happen? This has been an ongoing debate for quite a long time.

According to Carolyn Abraham from the Globe and Mail (January 10, 2008):

Two independent research teams have pinpointed the genetic glitch behind certain cases of autism, paving the way for the first DNA test to reliably predict who will develop the disorder.

Researchers with the Boston-based Autism Consortium have found that children who carry a missing or duplicated stretch of chromosome 16 have a 100-fold increased risk of developing autism. The mutation, confirmed through genetic scans of more than 1,400 people with autism in three separate study groups, appears most often to be the result of a random quirk not seen in either parent. Published in today’s New England Journal of Medicine, the Boston paper estimates the mutation is linked to about 1 per cent of all autism cases.

If the genetic code in this region is deleted – like a sentence missing several words – it cannot be read, said Dr. Scherer, and this seems to result in more severe cases of autism. If the code is duplicated, the disorder appears to be milder – like a sentence in which repeated words make it difficult, but not impossible, to read.

According to Dr. Scherer, “The link between the mutation and autism is so strong that it will herald “the first highly predictive DNA test for an autism disorder. We are transferring the technology [to perform the test] from our research lab to the diagnostic clinic as we speak.”

Interestingly enough, other types of mutations at Chromosome 16 have been identified as responsible for diseases such as: Crohn’s Disease; Inflammatory bowel disease, tuberous sclerosis, Charcot-Marie-Tooth disease, polycystic kidney disease and others. Now Autism can be added to it’s list.

As previously stated, in the past Doctors have relied on behavior to diagnose the disease. However, with this new technology, an inexpensive DNA test could identify those who are still in the womb, or infants who are suspected to have the disease. No doubt this pre-birth identification will generate either a positive, or negative, controversial reaction from people, depending on their beliefs.

Children’s Hospital in Boston is now also offering the test for the Chromosome 16 mutation for Autism.

For more information on the original article, please visit: http://www.theglobeandmail.com/servlet/story/RTGAM.20080110.wautismgta10/BNStory/specialScienceandHealth/home

Many of our clients ask interesting questions, which I track and compile in an effort to keep abreast of this ever-changing technology and it’s impact on our lives. I decided to start this blog in an effort to share that information, plus news and current events in the DNA and Genetics community. I hope you find my blog useful and informative. I’ll admit, I am excited to see how it turns out myself!

If you ever have anything to add, by all means, please jump in with two feet! And, of course, you are welcome to contact me directly with any questions or comments… or the need to purchase a DNA test!

Enjoy!