Writing in the Archives of Disease in Childhood (subscription required for full text), Dr. Brian Skotko reports that the number of babies born with Down syndrome has been steadily decreasing around the world as prenatal testing and selective termination have become more widespread.

Skotko reports that a trend toward later childbearing in the United States would have been expected to cause a 34 percent increase in the number of babies born with Down syndrome between 1989 and 2005 in the absence of prenatal testing. Instead, there were 15 percent fewer such babies born, a decrease of 49 percent between expected and observed rates.

With new and more sophisticated prenatal tests expected soon, Skotko called on the medical community to address the ethical questions raised by medical technologies that allow nations to decide what forms of human genetic variation are valued. He urged the medical community to:

– Develop guidelines for delivering a diagnosis of Down syndrome;

– Assemble current and accurate information on Down syndrome, in collaboration with parent support organizations, to be distributed to prospective parents;

– Offer comprehensive training to professionals on how to deliver a non-directive prenatal diagnosis; and

– Develop curriculum to give medical, nursing and genetic counseling students a richer understanding of Down syndrome.

An excerpt:

… In its support for Down syndrome prenatal screening, has the American College of Obstetrics and Gynecology endorsed a climate in which disability discrimination could more easily flourish?

… The age is swiftly coming where not all possible technologic advances may bring welcomed change. Parents who have children with Down syndrome have already found much richness in life with an extra chromosome. Now is the time for the rest of us to discuss the ethics of our genetic futures.

Dr. Brian Skotko is a clinical genetics fellow at Children’s Hospital Boston. ADC is the journal of the Royal College of Paediatrics and Child Health. Press release from Children’s Hospital Boston here.

Full article available for purchase here.

News reports say it could ‘save lives of hundreds of unborn babies’

From the [UK] Guardian, [UK] Daily Mail:

The UK’s National Health Service is spending £2 million (about $3.3 million) on research to develop a noninvasive prenatal test for Down syndrome and other conditions.

News reports said the test could potentially “save the lives of hundreds of unborn babies” by ending the use of amniocentesis, an invasive procedure which causes an estimated one in 100 women to miscarry.

An excerpt:

Professor Lyn Chitty, an expert in foetal medicine at the Institute of Child Health and University College Hospital in London, is the doctor leading the NHS-funded Reliable Accurate Prenatal non-Invasive Diagnosis (RAPID) study into the viability of NIPD (non-invasive prenatal diagnosis). She said: “NIPD is exciting because it could mean that in future many thousands of women will not have to undergo invasive tests, which carry a risk of miscarriage, to diagnose genetic and chromosomal conditions in developing babies.This test could remove the agonising which couples experience over whether or not to have an invasive test.”

It could also save lives. About 25,000 women a year in Britain have an invasive test for Down’s syndrome and another 1,500 for single gene disorders, which affect one in 300 births and are a significant cause of both learning and physical disabilities.

Carl M. Cannon writes in PoliticsDaily.com that a recent remark by Justice Ruth Bader Ginsburg reminds us that the movement to legalize abortion is rooted in eugenic desires to eliminate people viewed as undesirable.

Justice Ginsburg’s comment came in a New York Times Magazine Q&A with journalist/lawyer Emily Bazelon. Talking about the 1972 Roe v. Wade decision, Ginsburg said in part, “Frankly, I had thought that at the time Roe was decided, there was concern about population growth and particularly growth in populations that we don’t want to have too many of.”

Subsequently, Bazelon told Politics Daily editor Melinda Henneberger that she felt Ginsburg used the word “we” to refer to other people rather than herself. Cannon, by contrast, says Ginsburg “committed a gaffe by speaking the truth”, and revealed her own views and those of other abortion supporters. An excerpt:

… this is hardly the first time prominent pro-choicers have had to engage in semantic gymnastics to obscure a longtime underlying rationale for their position that is neither politically nor morally correct.

(more…)

From the Fresno [CA] Bee:

Environmental activists say chemical contamination of air and water have caused a cluster of birth defects in a small town in Kings County, CA. They are seeking a moratorium on industrial development in Kettleman City, where they say five babies were born with birth defects between September 2007 and November 2008. Three of the children have since died.

The county’s Department of Public Health released a statement saying a cluster of birth defects “may exist” in Kettleman City, but the cause is unknown. The San Francisco-based Greenaction for Health and Environmental Justice asked for a county investigation.

See also:

Toxic neighbors? KMPH, Fox 26

Protest in Kettleman City — KMPH, Fox 26

Can identify any of 15,000 known genetic disorders, researchers say

From the [UK] Times, [UK] Telegraph, BBC News:

A universal test to check embryos for almost any genetic condition could be available in the UK within a year, British researchers say. Clinical trials are expected to start within months.

Researchers say the £2,500 procedure, called karyomapping, can be used to quickly identify embryos with inherited illnesses like cystic fibrosis and spinal muscular atrophy, among an estimated 15,000 known genetic disorders. They believe it has the potential to eventually eradicate some inherited conditions like Huntington’s Disease, and to look for genetic causes of autism.

Critics say the procedure sparks fears that parents will selectively terminate fetuses with non-serious conditions, but scientists say its use would be heavily regulated in Britain and limited to serious diseases. In theory, the process could be used to select for particular characteristics like height and hair color.

“We’re not mad Frankensteins working away in our labs creating designer babies. We can only look for major disorders,” said Prof. Tony Rutherford, chairman of the British Fertility Centre.

(more…)

Judge says district’s response was ‘grossly inadequate’; Family to get $125,000

From the Charlotte [NC] Observer:

Eleven-year-old Brandon Hawkins and his younger brother Jeremy have Batten disease. The rare neurological condition causes steady deterioration of vision, strength, and mental capacity, and often leads to an early death. It has no cure.

Ever since Brandon was in kindergarten, his parents have been fighting with the Charlotte-Mecklenburg School District (CMS) about his right to special education services. The district said Brandon did not fit in any of its categories. The family alleged discrimination based on disability.

After a federal judge rebuked CMS for what he called “malignant arrogant indifference”, the district settled the case for $125,000. It will also pay almost $64,000 in legal fees. The family has moved to another district where their mother says the boys are thriving.

Two national organizations representing people with Down syndrome announced this week that they have reached a consensus with representatives of three national groups of medical professionals to establish common ground on prenatal screening and testing.

In a press release, the organizations said the coalition had agreed that health professionals and the public need non-judgmental, non-coercive, balanced, up-to-date, and accurate information about Down syndrome. They identified possible areas of collaboration for the future, and said dialogue among the groups was moving them toward “greater mutual understanding.”

Entitled “Toward Concurrence: Understanding Prenatal Screening and Diagnosis of Down Syndrome from the Health Professional and Advocacy Community Perspectives,” the document was endorsed by representatives of the National Down Syndrome Society, the National Down Syndrome Congress, the American College of Obstetricians and Gynecologists (ACOG), the American College of Medical Genetics, and the National Society of Genetic Counselors, according to a press release from NDSS and NDSC.

The consensus agreement emerged out of a two-day meeting last fall that was hosted by the University of South Carolina’s Genetic Counseling Program and the University’s Center for Disability Resources. It follows recommendations by ACOG that all pregnant women regardless of age be offered prenatal screening and testing for fetal chromosomal abnormalities.

The document sets out the following areas of consensus among the groups:

• Balanced, accurate public information on the lives and value of individuals with Down syndrome is needed;
• Health professionals need education about Down syndrome that is based on the most up-to-date information;
• Education for expectant parents regarding prenatal screening and testing should be consistent; and
• Information for parents receiving a genetic diagnosis should be complete, consistent, non-judgmental, and non-coercive.

The coalition also attempted to dispel what it termed “apparent misperceptions” about prenatal testing among the general public, advocates and health care professionals. The consensus document made the following assertions:

• It is a misperception to say that obstetricians are recommending prenatal tests to reduce the number of individuals in society who have birth defects and genetic conditions;
• It is a misperception to say that the purpose of offering prenatal diagnosis to all pregnant women is to decrease the number of births of children with Down syndrome;
• It is a misperception to say that ninety percent of pregnancies prenatally diagnosed with Down syndrome are terminated;
• It is a misperception to say that NDSS and NDSC are pro-life organizations;
• It is a misperception to say that genetic counselors with master’s degrees influence parents to accept pregnancy termination; and
• It is a misperception to say that prenatal screening and testing are performed exclusively to detect Down syndrome.