Procedures


There are many procedures that are currently being done to prevent genetic disorders from occurring in children.  Many of them are still under investigation.  Before these tests are done the prospective parents need to go through genetic counseling to know their options in dealing with and/or preventing the genetic disorder.  There are tools that can be used to fix the genetic disorder or measures that can be taken before or after birth but sometimes the only answer to avoiding this disorder is abortion.  The needs to know their options and be prepared to make the decisions regarding their children.  Some of the practices that are being used to prevent genetic disorders follow.

Before conception:  Gamete donation
                               First polar body biopsy
After conception before implantation:  Cleavage stage biopsy
                                                          Blastocyst biopsy
                                                          Germ cell gene therapy
After implantation:  CVS
                              Amniocentesis
                              Cordocentesis
                              Other tissue biopsy
                              Embryoscopy
                              Fetal cells in maternal blood
                              Stem cell transplantation

For more information about these specific procedures there is an in depth look at them in the Human Reproduction Journal.  (See References and Links for complete citation)


There are over 400 genetic diseases that can be screened for and possibly prevented.  Among them there are approximately 200 disorders that are inherited from the X chromosome.  These diseases are only manifested in male children from which both parents have the gene.  The following list is just a few.
-Lesh-Nyhan syndrome
-Muscular dystrophies
-Fragile X syndrome
-Hunter's disease
-Hemophilia

These diseases make a strong case for pre-implantation screening in which the sex of the child can be determined after IVF is performed but before the embryo is implanted in the womb.  In 1989 Handyside et al. successfully removed a single cell from a human embryo at the 6 to 10 day cleavage stage after IVF.  PCR or polymerase chain reaction can be done on this single cell and the sex of the child can be determined within hours to allow for transfer of the female embryos very quickly.  This procedure cuts out the need for abortion of affected fetuses.  Sex selection can also be determined by finding fetal cells within maternal blood samples.  The test looks for Y chromosomes in the maternal blood which would indicate that the child in the womb is a male.

 

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