Archive for January, 2019

Genetic disorders can be detected early in pregnancy

A new test allows doctors to diagnose genetic disorders in fetuses early in pregnancy by sequencing small amounts of fetal DNA in the mother’s blood.

Non-invasive prenatal tests are already available for chromosome disorders such as Down’s syndrome. Two years ago, a similar test was developed for recessive single-gene diseases, which occur when someone has two copies of a faulty gene. That test is particularly useful when one or both parents are known to be carriers for inherited diseases such as sickle cell anaemia, haemophilia or cystic fibrosis.

Now there is a test that looks at 30 genes associated with dominant genetic diseases, which occur when someone has just one copy of a faulty gene. These usually occur because of a mutation in the sperm, egg or embryo, and are more common when one of the parents is relatively old. Around one in 600 babies is born with one of these conditions.

The test will likely be used after an ultrasound has shown that the fetus has a skeletal abnormality, or it may be offered to couples in which the father is relatively old.

If it gives a positive result for a genetic disorder, women can be offered a more invasive test to confirm the diagnosis. If that test is positive, couples would ideally be offered genetic counselling so they can make informed decisions about how to manage the pregnancy.

Jinglan Zhang at Baylor College of Medicine, Texas, and colleagues tested blood samples from 422 pregnant women, from nine weeks of gestation onwards, sent to them from clinics in the US, Europe and Asia. Some of them had abnormal results on ultrasound scans suggesting a skeletal disorder in the fetus. Thirty-two tested positive for mutations in one of the 30 genes in the test.

For 147 of the participants, the team were able to obtain results from more invasive tests or postnatal tests. Out of these, all of the follow-up tests confirmed that the initial test from the mother’s blood was correct.

“The data so far show that this test is promising and accurate to detect the mutations it’s supposed to see,” says Zhang. However, they will need results from a much larger group of women to demonstrate that the test is clinically useful.

The test uses genetic sequencing technologies that are widespread in developed countries. However, genetic counselling specialists are not available everywhere. “It’s not the technology that’s difficult to implement in different hospitals; it’s the service around this test that’s equally important,” says Zhang.



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healthcare, vaccination and people concept – doctor with syringe making medicine injection to girl at hospital

HPV vaccination rates for younger American adolescents are alarmingly low, researchers say.

“While we have seen gains in HPV vaccination coverage, we are still falling behind at the younger ages,” said study lead author Robert Bednarczyk. He’sassistant professor of global health and epidemiology at Emory University in Atlanta.

Human papillomavirus (HPV) is a sexually transmitted virus that can cause cervical, vaginal and vulvar cancer in women; penile cancer in men; and mouth, throat and anal cancer in both sexes.

Two shots of the HPV vaccine, six to 12 months apart, are recommended for kids who are 11 or 12 years old.

For the study, researchers analyzed 2016 data from a nationwide U.S. Centers for Disease Control and Prevention survey of parents.

The findings showed that about 43 percent of kids aged 13 to 17 were fully vaccinated against HPV. But only about 16 percent of 13-year-olds and about 35 percent of 15-year-olds had received all recommended doses of the vaccine.

“In general, we need to do a better job of recommending the HPV vaccine at the routine, adolescent, and well-child visits, with a particular focus on 11 to 12 years of age,” Bednarczyk explained in a news release from the Infectious Diseases Society of America.

Nearly 80 million people in the United States are infected with HPV, which causes about 34,000 cancers a year. The latest version of the vaccine protects against seven of the most common types of HPV, the study authors noted.

The new report was recently published in the Journal of Infectious Diseases.

Advantages to completing vaccination by age 13 include a stronger immune response and better protection against HPV. The CDC recommends three shots instead of two for kids over 14 who have not been vaccinated.

More information

The U.S. Centers for Disease Control and Prevention has more on HPV vaccination.

SOURCE: Infectious Diseases Society of America, news release, Jan. 17, 2019


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When it comes to the workplace, many working moms still believe they’re overlooked and left behind.

Issues of gender equity have become top of mind in the wake of the #MeToo movement which focused a spotlight on sexual harassment at work. But 78 percent of working moms think they must prove their mettle more than their colleagues to climb the corporate ladder, according to a new study commissioned by Bright Horizons, a provider of child care and other employer-sponsored services.

Twenty-one percent say they would be worried to tell their boss they are expecting a child – nearly twice the number who were similarly concerned five years ago.

“I think we keep believing that these things have evolved,” says Maribeth Bearfield, chief human resources officer for Bright Horizons. But “there are still women in the workplace who feel they’re being disadvantaged on things like pay (and) career opportunities. …You hear ‘She’s got children; she may not be able to work on the project as much.’ ‘Do we want her traveling?’ Conversations that shouldn’t take place, but they do.’’

A sizable number of workers – 41 percent – believe working mothers are less dedicated to their jobs, and 38 percent frown on their needing more flexible hours, the report found.

Meanwhile, working dads get more latitude. Among those surveyed, 75 percent thought working fathers were more devoted to their professions than their female counterparts.

Support Makes All the Difference

But a company’s support is critical for mothers and fathers alike to do their best at work, parents say.

For Jackie P. Taylor, a mother of five who is a partner and principal with the firm Ernst & Young, flexibility is “a necessity.”

Her company allows her and other employees to often work remotely. And it provides back-up care services that enable staffers to call a toll-free number 24 hours a day to get a slot for a child at a local child care center or to arrange for a nanny to come to the home so that they can still work.

“There is no way as a mother of school-age children that I would be able to balance that without the appropriate supports in the workplace,” says Taylor, of Hillsborough New Jersey, whose children range in age from 9 to 16. “That has a huge impact on my career trajectory – whether I make a decision to stay in the workforce or not stay in the workforce and quite frankly at the end of the day the quality of life for my children and of our family.”

Beyond the benefits the company provides, her workplace’s culture has also been critical. Taylor recalls needing to take a short leave of absence when one of her children was diagnosed as being on the autism spectrum.

“The firm was super, super supportive,” she says, noting that she didn’t have to give up any of her client relationships despite taking time away. “So the culture of your organization, not only in their words but in their actions, is important.”

Nadine Fattaleh, a chemistry professor at a community college near Portland, Oregon, says that she’s not sure that some of her colleagues always understand the balancing act that comes with being a professional who is also the parent of a 7-year-old daughter.

“I do think that I have some co-workers who might not be able to understand some of the pressures that I have,” she says. “I have a supervisor who very kindly asks me how my family is doing whenever he sees me. But he doesn’t ask the same of many of my male counterparts, or at least I haven’t witnessed it. So I appreciate the nod and sort of the personal connection, but, at the same time, you can ask me how my classes are going, like you ask male professors.”

But Fattaleh says her job gives her the latitude that she needs. “I obviously have to be in class and be in labs and be here for my students,” she says. But when it comes to grading papers and returning emails, “I can do that after (my daughter’s) bedtime.”

The school also has a childcare facility run and staffed by students and instructors in its early childhood education program. Fattaleh’s daughter attended it until she went off to kindergarten.

“I didn’t look anywhere else for child care,” she says, noting that she tells colleagues who are expecting a baby or have young children how nice it was to have her daughter cared for five minutes away from her office.

Hila Roberts, a Home Depot merchant, is the primary caregiver for her children when her husband is on the road but it hasn’t hindered her ascent up the corporate ladder.
Home Depot

Hila Roberts, an Atlanta-based merchant for Home Depot, says that there’s always the tug and push of work and home life.

“I think any parent, you always have that struggle of you want to do a great job at work because work is really important, but at the end of the day your family comes first,” says Roberts, who is the primary caretaker for her 6-year-old daughter and 3-year-old son during the week while her husband is on the road.

Finding the balance between work and home can mean prioritizing and planning. “It’s very important for me to pick up the kids from school and take them home and have dinner with them,” she said, noting that, to make it work, she shifts her focus to home for a period. “I may not be as responsive between the hours of 5 to 8, but … once the kids go to bed, I can devote my time back to catching up on emails or completing some projects that are due.”

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Roberts’ obligations at home have not hindered her ability to attain more responsibility at work. “It’s really about the leadership here and them being supportive of having someone like me,” she says. The type of people who “want to have a life and also want to do a great job at work.”

Through Bright Horizons, Home Depot provides back-up care for staffers’ family members, a benefit Roberts tapped just last week when she sent her daughter to a day care center when school was closed for the Martin Luther King Jr. holiday.

“I know other people where … their company doesn’t have that benefit, and they are losing workdays,,” she says. “If every company had that, it would make every parent’s life so much easier. … That gives you a way to still be able to work but know that the people you love are still being taken care of.”

Despite the obstacles they may face climbing the corporate ladder, working mothers are believed to possess many of the qualities companies often value most in a leader. Eighty-four percent of those in the Bright Horizons survey said working moms in top roles will make a company more successful.

Among respondents, 65 percent said working moms are better listeners than working dads or people who aren’t parents, 51 percent said working mothers are calmer in emergencies, and 44 percent said they are better team players.

Mastercard is among the companies focused on providing support and opportunities for the mothers on its staff. It has also enlisted Bright Horizons to provide back-up care for its employees.  The company enables flexible work schedules, and it has instituted a policy worldwide that gives a minimum of 16 weeks for maternity leave and 8 weeks for paternity leave.

“The critical factor is ensuring you have executive leadership … that genuinely believes from a talent perspective that this is good for an organization,” says Michael Fraccaro, chief human resource officer for Mastercard. “We’re very transparent in progress we’ve made and areas we need to focus on, particularly in continuing to promote people from within into senior levels of management.”

The company also has an initiative, launched in 2017,  that helps mostly female talent that has left the workforce to reignite their careers.

The 12-week program, fittingly called “Relaunch Your Career,” gives the participants a job and mentors. The goal is that more than 75 percent of them will become full-time employees.

“Once given a chance,” Fraccaro says, “the level of commitment and engagement from these individuals, and their work ethic … is extremely high.”


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