A Safer Way to Scan the Genome of a Baby

                Many soon to be parents want to be prepared for the life of their new baby. They paint the walls, get ready the crib, and buy lots of toys to welcome the child in the world. Many parents look for the opportunity to find out if their child has genetic disorders, such as Down Syndrome, to prepare themselves to foster a good environment for a child with a certain disorder. Different procedures exist in order to help parents determine if their child might have genetic defects. Amniocentesis and chorionic villous sampling are two methods which are currently used in order to scan the genome for certain disorders, however they each pose risks to the developing fetus.

                One way to scan the genetic material, the genome, of the fetus is through amniocentesis. This procedure involves putting a long needle inside the uterus, and removing some amniotic fluid to test for some disorders. Down syndrome, Cystic fibrosis, and muscular dystrophy are some of the disorders that can be detected with this method. Due to the nature of this procedure, there is a slight chance of an accidental miscarriage, around 0.6%. Other difficulties could involve leaking amniotic fluid, injury due to the needle, and infection.

                Another way to scan the genome for genetic disorders is with chorionic villous sampling (CVS). This procedure uses a thin tube (catheter) or a needle to take cells from the placenta for the genetic testing. While not able to scan the whole genome, CVS can be used to detect some diseases such as Tay-Sachs disease, hemophilia and Down Syndrome. This, much like amniocentesis, involves risks such as miscarriage as it is an invasive procedure.

Neither of these options are perfect – amniocentesis and CVS both pose a risk to the baby, and could even result in an accidental miscarriage. To find a safer way, researchers at the University of Washington, spearheaded by Jacob Kitzman developed a noninvasive method to sequence the entire genome of the fetus. By using a blood sample from the mother, and a saliva sample from the father, Kitzman and others were able to sequence the whole fetal genome. Because this is not invasive for the developing fetus, this is a much safer alternative to the previous ways to scan the genome of the fetus. On top of being noninvasive, this method is also able to fully sequence the whole entire genome, determining which nucleotide (A,C,T,G) is in each position throughout the genome. This allows parents the ability to scan the whole genome for any known genetic disorders, not just being restricted by the certain predetermined diseases that is scanned by amniocentesis or CVS. This helps further by allowing parents and doctors to find rare genetic mutations that may have occurred and to determine what effects that might have when the child is born.

Through the work of Kitzman and others at the University of Washington, we now have a method of scanning the genome of a fetus in order to determine if a child has genetic disorders, without being invasive to the fetus. This noninvasive procedure may allow parents the ability to more seriously consider genetic screening the fetus for genetic disorders, as this now has no chance of directly causing accidental miscarriages or injury to the child.