Prospective Sponsor: Representative Doug Collins[R-GA]
Charlie Hart’s Rule
As proposed by U.S. House of Representatives
A bill to amend the Public Health Service Act, as a rider to the Prenatally and Postnatally Diagnosed Conditions Awareness Act, to ensure precise diagnosis and rule-out missed mosaicism, in order to accurately give scientifically sound information, appropriate medical care, and support services of a chromosomal condition such as Down syndrome or other prenatally or postnatally diagnosed conditions.
Whereas, Down syndrome is the most common genetic disorder caused by chromosomal abnormality, with approximately 1 in every 800 being diagnosed every year. Mosaicism for Down syndrome is less commonly diagnosed due to lack of legislation mandating sufficient numbers of chromosomes being examined. Exclusion of Chromosomal Mosaicism with Tables of 90%, 95%, and 99% Confidence Limits by EB Hook (Am J Hum Genet 29:94-97, 1977, item 1) illustrates that mosaicism for a chromosomal condition cannot be ruled out confidently when less than 500 cells are examined.
Whereas, every year, 92% of mothers who receive a prenatal diagnosis of Trisomy 21 Down syndrome, based on 20 cell counts, choose to terminate their pregnancy. (Mansfield et al., 1999;Egan et al., 2011; items 2, 3) Many mothers are aborting fetuses, which would have otherwise been diagnosed with mosaicism or not diagnosed with Down syndrome at all, based on 20 cell counts; this could be the cause of human error in testing due to lack of legislative intent.
Whereas, with mosaicism, there is a tendency towards normal cell lineage (Medical Care in Down Syndrome, Rogers and Coleman, item 4); someone with mosaicism has a lessening percentage of trisomic cells with age for the betterment of the child.
Whereas, Trisomy 21 Down syndrome and Mosaic Down syndrome are similar, but not under the same diagnostic criteria, which would call for standards in testing currently not in use due to lack of mandated guidelines. The number of cells examined when testing for a chromosomal condition appears to be of an insufficient nature to give accurate diagnostic information regarding a chromosomal condition, and emergency public law must be put in place to mandate that a minimum of 500 cells be examined whenever chromosome testing is performed.
Whereas, So it be said, chromosomal testing has been found to be likely inaccurate, with incorrect information being provided about prenatal or postnatal diagnosed chromosome conditions, when any less than 500 cells are examined during chromosomal testing.
Whereas, So it be said, parents are entitled and afforded under the Prenatally and Postnatally Diagnosed Conditions Awareness Act to have scientifically sound information and support services regarding diagnosed chromosomal disorders.
Herein, we have heard overwhelming evidence showing the need for CHARLIE HART’S RULE. The impact of wrong diagnosis can affect the lifelong care of the child.
CHARLIE HART’S RULE shall go into effect immediately upon passage of the House of Representatives and the Senate and after being signed by the President.
Therefore, So it be said, From this ___________ day of _____________ in the year 2014, CHARLIE HART’S RULE, as a rider to the Prenatally and Postnatally Diagnosed Conditions Awareness Act under the Public Health Service Act, be enacted to mandate all prenatal and postnatal chromosomal testing must be performed by examining a minimum of five hundred cells to ensure more accurate and correct, scientifically sound information is provided about a prenatally or postnatally diagnosed condition such as Down syndrome.
Charlie Hart’s Rule
A bill to amend the Public Health Service Act, as a rider to the Prenatally and Postnatally Diagnosed Conditions Awareness Act, to ensure precise diagnosis and rule-out missed mosaicism, in order to accurately give scientifically sound information, appropriate medical care, and support services of a chromosomal condition such as Down syndrome or other prenatally or postnatally diagnosed conditions
Mosaicism: means that the cells in a body do not all have the same chromosomal makeup; some cells may be affected by a trisomy, for example, whereas other cells have a normal number of chromosomes.
Trisomy: a specific type of chromosome abnormality in which an individual has three rather than two copies of a particular chromosome.
Trisomy 21 Down Syndrome: is when an extra copy of chromosome number 21 is present in 100% of the cells within the body.
Mosaic Down syndrome: a chromosomal condition where two or more cell lines are found through diagnostic testing, and only a percentage of the cells are affected by trisomy.
Terminate (pregnancy): the artificially induced expulsion of an embryo or fetus with destruction of said embryo or fetus.
Chromosomal testing: a laboratory procedure in which cells of the blood and/or skin are examined to determine or rule out chromosomal abnormality.