Tag: pregnancy

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Maternal Age the Most Significant Risk Factor Associated with Down Syndrome

“Attacking people with disabilities is the lowest display of power I can think of.” -Morgan Freeman

Down syndrome is the most frequently occurring chromosomal congenital abnormality in Canada. It is a lifelong condition. It adversely affects infant’s life and mortality.

An English physician John Langdon Down first described Down syndrome in 1862, and helped to differentiate the condition from mental disability. Prior to that for centuries, people with Down syndrome have been alluded to in art, literature and science. Many individuals were killed, abandoned or ostracized from society. Many of these children died during infancy or early adulthood.

Humans usually have 46 chromosomes in every cell, with 23 inherited from each parent. Due to the extra copy of chromosome 21 (trisomy 21), people with Down’s syndrome have 47 chromosomes in their cells. This additional DNA causes the physical characteristics and developmental problems associated with the syndrome.

The cause of the extra full or partial chromosome is still unknown. Maternal age is the only factor that has been linked to an increased chance of having a child with Down syndrome. There is no definitive scientific research that indicates Down syndrome is caused by environmental factors or the parents’ activities before or during pregnancy.

The additional partial or full copy of the 21st chromosome that causes Down syndrome can originate from either the father or the mother. Approximately five per cent of the cases have been traced to the father.

Children with Down syndrome experience intellectual delays and are at an increased risk for several medical conditions.

Congenital heart defects and respiratory infections are the most frequently reported causes of death in children and young adults with Down syndrome. Childhood leukemia is also associated with Down syndrome.

Due to higher birth rates in younger women, 80 per cent of children with Down syndrome are born to women under 35 years of age. Women aged 35-39 years have the highest percentage of babies born with Down syndrome (29 per cent).

According to a report on the Government of Canada website, the birth prevalence of Down syndrome in Canada from 2005 to 2013 has remained stable. Approximately one in 750 live born babies in Canada has Down syndrome. Advanced maternal age is the most significant risk factor, says the website.

Prenatal screening for Down syndrome has advanced in both accuracy and early detection. The number of children born with Down syndrome has remained stable due to increased use of prenatal diagnostic procedures followed by terminations of pregnancies.

The Society of Obstetricians and Gynecologists of Canada’s clinical care guidelines for prenatal testing advise against using maternal age as the only criterion for invasive prenatal diagnosis. They recommend prenatal screening for clinically significant fetal abnormalities be offered to all pregnant women, irrespective of age.

There are 45,000 Canadians with Down syndrome, with a very active organization, Canadian Down Syndrome Society (CDSS). The CDSS is a non-profit organization that provides Down syndrome advocacy in Canada, says their website.

The organization helps people with Down syndrome. People with Down syndrome can go to school, finish university, find careers, and get married. CDSS goal is to ensure all people with Down syndrome live fulfilled lives. It is Canada’s voice for Down syndrome.

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Pregnancy and the Risk of Traffic Collision

Washington Monument at the National Mall in Washington, D.C. (Dr. Noorali Bharwani)
Washington Monument at the National Mall in Washington, D.C. (Dr. Noorali Bharwani)

The Canadian Medical Association Journal (CMAJ March 1, 2016) has awarded its top research honour to the authors of a study that showed women face an increased risk of serious car accidents during pregnancy.

Dr. Donald Redelmeier and his colleagues are the recipients of the Bruce Squires Award for their article “Pregnancy and the risk of a traffic crash,” which showed that pregnant drivers were 42 per cent more likely to have a serious collision that resulted in an emergency department visit. It generated the most public interest of any CMAJ research paper in 2015, says the CMAJ article.

Redelmeier’s team analyzed the health records of 507 262 Ontario women who gave birth between April 1, 2006 and March 31, 2011. The researchers found that the risk of a serious crash peaked in the fourth month of pregnancy, and was higher in the afternoon and in complicated traffic. It affected pregnant women regardless of their background, whether they had been pregnant before, or whether they were carrying a boy or a girl, says CMAJ article.

The authors concluded that pregnancy is associated with a substantial risk of a serious motor vehicle crash during the second trimester.

The World Health Organization classifies maternal deaths due to traffic crashes as coincidental and not related to the state of pregnancy. Others have argued that pregnancy is the root cause of such deaths, because pregnant women are more susceptible to crashes.

In 2014, CMAJ published a commentary (July 8, 2014) on Redelmeier’s research. The title of the commentary was “High risk of traffic crashes in pregnancy: Are there any explanations?” The commentary touched on several likely explanations. Here is the summary:

  1. Driving requires a high level of concentration and cognitive ability to maintain and complete a number of complex tasks. If there is any impairment in the driver’s cognitive ability, there may be an increased risk of a crash.
  2. The physiologic changes of pregnancy have been shown to increase fatigue and sleep deprivation in pregnant women.
  3. Prospective study using self-reported questionnaires showed that sleep length began to decrease during the second trimester and quality of sleep worsened during pregnancy.
  4. Maternal stress is also a common feature of pregnancy.
  5. Drivers who experience sleep deprivation, stress or fatigue will have an increased risk of a car crash.
  6. If busy urban areas are harder to navigate and require greater concentration in driving, then fatigue, tiredness and stress are likely to have a greater impact on the risk of a crash in urban areas.

There is no doubt studies have shown an increased risk of motor vehicle crashes among women in their second trimester of pregnancy.

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Is it Safe for Pregnant Women to Drive?

A lonely tree at Police Point Park, Medicine Hat, Alberta. (Dr. Noorali Bharwani)
A lonely tree at Police Point Park, Medicine Hat, Alberta. (Dr. Noorali Bharwani)

I found an interesting article in the Canadian Medical Association Journal (CMAJ July 8, 2014) regarding the above subject. Dr. Donald Redelmeier and his colleagues author the research paper titled, “Pregnancy and the risk of traffic crash.”

When a woman is pregnant there are a number of changes occurring in the body. These changes may contribute to increased driving error. The authors of the CMAJ article compared the risk of a serious motor vehicle crash during the second trimester to the baseline risk before pregnancy.

The authors analyzed women who gave birth in Ontario between April 1, 2006, and March 31, 2011. Certain groups of women were excluded from the study. The primary outcome was a motor vehicle crash resulting in a visit to an emergency department.

After analyzing all the data from the study, the conclusion was that pregnancy is associated with a substantial risk of a serious motor vehicle crash during the second trimester. The authors further suggested that this risk merits attention for prenatal care.

In a commentary associated with the article under the title, “High risk of traffic crashes in pregnancy: Are there any explanations?” Stephen J. McCall, and Sohinee Bhattacharya say that the World Health Organization classifies maternal deaths due to traffic crashes as coincidental and not related to the state of pregnancy. Others have argued that pregnancy is the root cause of such deaths, because pregnant women are more susceptible to crashes.

McCall and Bhattacharya make the following key points in their CMAJ commentary:
-Normal physiologic changes during pregnancy may increase sleep deprivation and stress, which may increase the likelihood of human error.
-Epidemiologic studies have shown an increased risk of motor vehicle crashes among women in their second trimester of pregnancy; these studies should be interpreted with caution because data on duration and frequency of driving, and on shared responsibility for crashes, were lacking.
-Further research into the biological mechanisms that may link pregnancy to car crashes is warranted.

So, like many things in medicine the jury is still out debating whether we should allow pregnant women to drive, especially during second trimester. Suffice to say whether you are male or female, pregnant or not, just drive carefully.

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C. difficile-Associated Diarrhea In Pregnancy – A Complex Clinical Challenge

A pregnant woman touching her belly. (Jupiterimages)
A pregnant woman touching her belly. (Jupiterimages)

Photograph shows colon acutely inflamed - red, swollen with white patches of psuedo membranes. An extreme case of C.difficile colitis - also known as pseudomembranous colitis.
Photograph shows colon acutely inflamed – red, swollen with white patches of psuedo membranes. An extreme case of C.difficile colitis – also known as pseudomembranous colitis.

In 1935, Hall and O’Toole first isolated a bacterium from the stool of healthy newborns. They named it Bacillus difficilis to reflect the difficulties they encountered in its isolation and culture. Now, after 77 years, we are unable to contain the growth and spread of the same bacterium, renamed as Clostridium difficile.

C. difficile is a frequent cause of infectious colitis, usually occurring as a complication of antibiotic therapy. Elderly hospitalized patients and other vulnerable patients are easy victims. Then there is community acquired disease in people who have not taken antibiotics.

This is not surprising, since C. difficile has been cultured from the stool of three per cent of healthy adults and up to 80 per cent of healthy newborns and infants. Patients who are discharged from the hospital or the visitors to the hospitals and nursing homes can pick up these bugs and spread it in the community. Hand hygiene plays an important role in prevention.

There is not much information out there on C. difficile-associated diarrhea (CDAD) in pregnancy. I did find one article: Clostridium difficile-associated diarrhea: an emerging threat to pregnant women (American Journal of Obstetrics and Gynecology – June 2008). The article says that largely due to their young age and overall good health, pregnant women have historically been at low risk for developing CDAD.

In a retrospective study of 74,120 admissions to an obstetrics and gynecology service over 10 years, only 18 women (0.02 per cent) developed CDAD. However, a Morbidity and Mortality Weekly Report reported 10 cases of peripartum (occurring during the last month of pregnancy or the first few months after delivery) disease from four states. Among these women, 40 per cent required hospitalization, 50 per cent experienced relapse, and one died.

Since CDAD is not a reportable disease, it is difficult to know the exact incidence of the problem and its complications in pregnant patients. It is a serious problem and CDAD should be taken seriously in this particular population and to raise the level of concern and vigilance among physicians.

Patients with CDAD can have a broad range of symptoms. Patient may be asymptomatic carrier or in an extreme situation may have life-threatening colitis.

Approximately, three per cent of adults and 80 per cent of neonates are infected with C difficile and most remain without symptoms. About 25 to 30 per cent of hospitalized adults are also C difficile carriers. These patients do not require any treatment.

Some patients have mild-to-moderate diarrhea, usually not bloody. At the other extreme, patients can be very seriously sick and have pseudomembranous colitis (see photograph). This is a serious condition and is a systemic illness. Patients have abdominal pain and tenderness, fever, and severe diarrhea that may be bloody. Marked elevations of the white blood count can be observed and may serve as a diagnostic clue. Bowel perforation is a very serious complication.

Oral metronidazole or oral vancomycin remains first-line therapy. Use of metronidazole in pregnancy remains controversial. Oral vancomycin is the only FDA-approved medication for the treatment of CDAD and can be used in pregnancy. Probiotics, to replace the good bugs in the gut, helps. Questran powder can be used to slow down the frequency of bowel movements. For intractable cases, stool transplant is an option.

Regardless, 12 to 24 per cent of patients develop a second episode of CDAD within two months of the initial diagnosis. If a patient has two or more episodes of CDAD, the risk for recurrences increases to 50 to 65 per cent.

Clearly, CDAD and C difficile infection pose a complex clinical challenge to the physician – whether the patient is pregnant or not.

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