prenatal testing

Both parents’ race may affect gestational diabetes risk

Researchers found that among nearly 140,000 women in one large California health plan, Asian women had the highest rate of gestational diabetes, at nearly 7 percent. They were followed by Native American women, at 5.6 percent, and Latina women, at 5 percent.

Rates of gestational diabetes among white and black women, meanwhile, stood between 3 and 4 percent.

But it wasn't only women's race and ethnicity that mattered, the study found. Expectant fathers' backgrounds also showed an independent association with the risk of gestational diabetes.

When the father was Asian or Hispanic, the researchers found, a woman's risk of gestational diabetes was 41 percent and 29 percent higher, respectively, compared with when the father was white. That was with other factors -- including the mother's race and ethnicity, age, body weight and education -- taken into account.

Native American ethnicity was also linked to relatively higher risks, though the association was weakened when other factors were considered.

Estimated to affect between 3 percent and 8 percent of pregnant women in the U.S., gestational diabetes arises during pregnancy and goes away soon after childbirth, though women who develop it have a higher-than-average risk of eventually developing type 2 diabetes.

Gestational diabetes can raise the risk of certain pregnancy complications, like high blood pressure in the mother and having a larger-than-normal baby, which may require a C-section.

Studies have shown that in the U.S., minorities generally have a higher risk of gestational diabetes than white women do.

These latest findings, published in the American Journal of Obstetrics & Gynecology, confirm a role for women's race and ethnicity in gestational diabetes risk.

But they also suggest that "in addition to women who are Asian, Latina, or Native American, women whose partners are of these racial/ethnic groups also appear to be at higher risk for (gestational diabetes)," write Dr. Aaron B. Caughey and his colleagues at the University of California, San Francisco.

The findings may help guide gestational diabetes screening, the researchers note.

For women at average risk of gestational diabetes, doctors typically perform a blood sugar test at some point in the second trimester. Those considered to be at high risk may be screened at their first prenatal visit and then retested later in pregnancy.

It is not clear why certain racial and ethnic groups are at increased risk of gestational diabetes, but genetic predisposition likely plays a role, according to Caughey's team.

They point out that a number of studies have found increased risks among Asian women, despite the fact that they have relatively low levels of obesity, a risk factor for both gestational and type 2 diabetes.

As for why the father's race and ethnicity matters, the researchers explain that fathers' genes, as well as mothers', influence hormones in the placenta. Placental hormones, in turn, affect a pregnant woman's sensitivity to the hormone insulin, which regulates blood sugar. Impaired insulin sensitivity can then lead to gestational diabetes.

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Prenatal testing curbs some genetic diseases

Some of mankind's most devastating inherited diseases appear to be declining, and a few have nearly disappeared, because more people are using genetic testing to decide whether to have children.

Births of babies with cystic fibrosis, Tay-Sachs and other less familiar disorders seem to have dropped since testing came into wider use, The Associated Press found from interviews with numerous geneticists and other experts and a review of the limited research available.

Now, more women are being tested as part of routine prenatal care, and many end pregnancies when diseases are found. One study in California found that prenatal screening reduced by half the number of babies born with the severest form of cystic fibrosis because many parents chose abortion.

More couples with no family history of inherited diseases are getting tested before starting families to see if they carry mutations that put a baby at risk. And a growing number are screening embryos and using only those without problem genes.

The cost of testing is falling, and the number of companies offering it is rising. A 2008 federal law banning gene-based discrimination by insurers and employers has eased fears.

Genetic testing pushes hot-button issues: abortion, embryo destruction and worries about eugenics - selective breeding to rid a population of unwanted traits.

Some diseases - sickle cell, cystic fibrosis, Tay-Sachs, thalassemia, spinal muscle atrophy - occur when people inherit two bad genes, one from each parent. The genes can pass quietly for generations until two carriers mate; then children have a one-in-four chance of getting the disease.

Comparisons to couples not given prenatal screening suggested that screening had cut births of babies with severe disease in half, researchers reported at a genetics conference in 2008. Studies in Canada, Italy, Australia and in Europe also found that cases dropped after screening began.

Gene testing hasn't led to declines in all diseases. Sickle cell, a blood disorder that causes anemia and pain and raises the risk of stroke, has not dropped. It mostly afflicts blacks; gene carriers are said to have sickle cell "trait," which sounds harmless.

"Now we're actually learning that it's not as benign as we thought it was," and that carriers have higher risks for certain medical problems, said Dr. Lanetta Jordan, a Florida physician and chief medical officer of the Sickle Cell Disease Association of America.

Newborn screening is finding more sickle cell carriers and cases, but this doesn't seem to affect parents' future family plans, Jordan said.

The number of fertility treatments that include embryo screening has been on the rise in recent years, with nearly 5,200 screenings in 2006, according to the Society for Assisted Reproductive Technology. Carrier testing also is rising. A California company, Counsyl, sells a $349 saliva test for genes for more than 100 inherited disorders. Several thousand people used it over the last year, the company reports.

Eliminating disease is a noble goal but also "should give us pause," Lerner, the Columbia historian, wrote recently in the New England Journal of Medicine.

"If a society is so willing to screen aggressively to find these genes and then to potentially to have to abort the fetuses, what does that say about the value of the lives of those people living with the diseases?" he asked.

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Most Pregnant Women Never Tested for the Most Common Birth Defect

Three out of five women who have given birth to a child with a congenital heart defect (CHD) -- the number-one birth defect and leading killer of infants and newborns -- were never tested for the defect during pregnancy. This is according to a survey just released by Little Hearts, Inc.

These findings come just as CHD Awareness Week begins (Feb. 7 - 14). The Little Hearts survey found that 60 percent of parents did not know their child had a CHD until after giving birth -- because the mothers were not tested for heart defects during pregnancy.

Of these parents, nearly three out of four (71.6 percent) wished they had known their child had a CHD during pregnancy -- mostly because they would have given birth at a hospital more equipped to handle the care of newborns with a CHD (41.6 percent).

"Congenital heart defects kill more children than childhood cancer, and yet, pregnant women are not routinely tested -- and newborns are not routinely screened -- for this defect," says Lenore Cameron, President and Executive Director, Little Hearts, Inc. "Early detection is absolutely critical to the successful treatment of congenital heart defects and, in countless cases, it saves lives."

Those families that did know their child had a CHD before giving birth (40.0 percent) reaped tremendous benefits from knowing in advance:

  • Three out of five (59.5 percent) said they gave birth at a hospital more equipped to handle the care of newborns with a CHD
  • One in five (19.8 percent) prepared themselves mentally and emotionally for the arrival of a seriously ill child
  • Others did their homework: 14.9 percent of respondents said they arranged for a pediatric cardiologist in advance of their baby's arrival, and 5.8 percent said that knowing in advance was most beneficial because it gave them time to do research on CHDs during the pregnancy

More Survey Results

  • Four out of five respondents (81.7 percent) said neither parent of the heart child had any family history of CHDs
  • Giving birth to a child with a CHD was more common for women in their 30s (65.2 percent) than in any other age group
  • Three out of four respondents (76.1 percent) said the mother did not take prescription drugs (which is considered a CHD risk factor) while pregnant with the heart child
  • Almost all respondents (96.4 percent) have only one child with a congenital heart defect; 3.6 percent have two or more children with a CHD
  • Nearly three out of five respondents (58.0 percent) said their heart child has two or more CHDs; 42.0 percent said their heart child has one CHD
  • The most common CHD among children of respondents was Hypoplastic Left Heart Syndrome (30.3 percent), a very serious heart defect that occurs when the left side of the heart does not develop completely

There are approximately 35 different types of CHDs. Some may be treated with surgery, medicine and/or devices, such as artificial valves and pacemakers. In the last 25 years, advances in the treatment of heart defects have enabled half a million U.S. children with serious CHDs to survive into adulthood. However, many cases of sudden cardiac death in young athletes are caused by undiagnosed CHDs and childhood-onset heart disease.

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A Natural Birth: Seamus’s Story

My story starts back in 2006.

I have a history of miscarriage. I had two early losses before giving birth to Noah, but for some reason had thought it would not happen again.

We decided to start trying for another baby in December 2005, and got pregnant right away. However, this pregnancy sadly ended in a miscarriage at the end of January, a very traumatic loss.

Since this was my third loss, despite not being consecutive, I talked my GP into referring me to the hospital for further testing. I had a ton of blood taken for various different tests, however by the time my appointment came along to see the consultant to discuss my results I was already pregnant again, after suffering a chemical pregnancy the cycle before, it turned out this time the baby was going to stick. I had about 8 scans as they monitored my pregnancy very closely this time.

However, things were not to go completely smoothly, as at 16 weeks I consented to having the triple test done for Downs/Edwards syndrome/Spina Bifida, something I regret doing as I feel very strongly against abortion apart from in extreme medical circumstances. This test came back with an elevated risk for Downs Syndrome, at 1 in 200. (The risk for my age, 29, should have been 1 in 1000.) Due to my loss history I refused an amniocentesis. The risk for losing my baby was double the actual risk of it having Downs and I could not accept those odds. So I opted for a detailed scan instead. The scan showed no soft markers for Downs and confirmed what we already suspected was true, that I was carrying another little boy.

At 34 weeks, I had another scan which also showed no markers for Downs. The consultant tried to talk me into an amnio at that stage, which I refused, as I could see little point. She said,

Do you know what risk you are taking?

I felt that was completely ridiculous, as whatever abnormalities my child might have had, we would just deal with whatever came up. I would love my child no matter what and strongly believe that we got given what we can handle and no greater than that. My gut told me though that my child was healthy and I clung onto this.

We started to plan the delivery, our local hospital had recently upgraded their birthing pool so that mothers could actually give birth in it rather than just laboring in it and then getting out before the birth itself. I fully intended on using this pool, especially after researching it and finding out that a warm bath is the second most effective form of pain relief after an epidural!

I had an epidural with Noah’s birth which had not taken properly (just down one side) and I had some horrible side effects (nausea and shaking). I was determined not to have one this time.

A good family friend of ours, Joana, is a midwife and had delivered Noah, we had her on call whenever I went into labor, although she would need some assistance as this would be her first waterbirth.

At 39 weeks, 4 days, I woke up to mild contractions, timed them as coming every 10 minutes.

As the day wore on though, they did not intensify, or get any closer together. By the time Gary got home from work I was getting very frustrated and at that point not even bothered if they stopped, I just wanted SOMETHING to happen or let me get some rest. At 9 p.m., I decided to try and get some sleep so went to bed. It was difficult as I was woken with every contraction, but I was determined I would need some sleep if I was going to have any energy to deal with labor.

Somehow I managed to get to sleep and the next thing I knew, it was 1 a.m. and I awoke having a very intense contraction. I lay there timing them again, and noticed they were coming about 3 minutes apart and lasting about 50 seconds each. I woke DH and we both got up, rang the in-laws. I got dressed and headed over to the hospital. I rang Joana on the way over.

At this point my contrax were 3 min apart, but every now and again I would have an extra one in between; they were painful but manageable. When we got there they had the pool all ready for me and they checked me before I hopped in. Joana was shocked to find I was already 9cm dilated – so I had already gone through most of labour at home!

I got into the tub and as soon as I hit the water I hit transition and started to lose it. Seconds after, I felt a huge pop and my waters broke. (Great timing!) I managed to focus on the contractions, which were getting really intense.

About 10 mins after I started to feel the urge to push, my body just took over – this part always freaks me out, how the body just does things with no input.

With my last labor, the pushing had been very, very difficult, as I was on my back wired up to machines after having an epidural, and it took over 2 hours to get him out.

This time though, I was able to get right into a good position and let gravity help me. Still, I was nervous. I also tore badly last time and was worried about it happening again.

In the end though I just realized the faster I get him out the sooner the pain is over and just pushed along with my body. I knew he was coming soon. I could feel the infamous “ring of fire”.

Joana called the other midwife in. They got me to squat right in the center of the pool as low as I could and as he came out, they told me not to touch his head, as it might stimulate him to breathe. His head popped out and very soon after the rest of his body.

When they told me the time was right I brought him up to the surface and laid him on my chest. I remember thinking how soft his skin was and what a big boy! He didn’t even cry and soon pinked right up nicely.

Seamus weighed on at 8lbs, 4oz, born at 4.50am (45 minutes after reaching the hospital) on the 24th February 2007. Perfectly healthy.

Written by Claire Louise. Read more details of the story here.

Blood test tells fetal sex in early pregnancy

Normally, parents who want to know the sex of their baby before it's born find out through ultrasound done in the second trimester. A blood test that can be done early in pregnancy is highly accurate at determining the sex of the fetus, however, a new study finds.

The test is important, write the authors of the study, because in some cases, there are medical reasons to determine fetal sex earlier. That has traditionally meant invasive tests, like amniocentesis, which carry a small risk of miscarriage.

Consequently, maternal blood tests that pick up certain markers of fetal sex have been developed and put into use in recent years. So far, research has shown the accuracy of these tests to vary widely, depending on the methods used.

In this latest study, published in the journal Obstetrics & Gynecology, researchers in the Netherlands found that the testing method used at their center was 100 percent accurate in determining fetal sex among nearly 200 pregnant women.

Part of what's new about the findings is that they show the effectiveness of blood testing as it is done in routine practice -- and not just in the research setting, Dr. Ellen van der Schoot, of Sanquin Research Amsterdam, told Reuters Health in an email. The study does not discuss costs, nor when the test might be available to the general public.

Still, the findings, according to van der Schoot and her colleagues, support using the tests in cases where fetal sex is important in detecting or managing certain inherited medical conditions.

For example, congenital adrenal hyperplasia (CAH) is a genetic disorder that causes girls to develop abnormal external genitalia and male-like characteristics like a deep voice and excessive body hair.

It is possible, however, to treat the disorder with the steroid dexamethasone as soon as pregnancy is established, so knowing the fetal sex sooner is better than later.

Similarly, fetal sex is key in genetic disorders linked to abnormalities in the X chromosome. These disorders -- such as hemophilia and Duchenne/Becker muscular dystrophy -- are almost always seen in boys rather than girls, because boys inherit only one X chromosome, from the mother. (Girls inherit an X chromosome from each parent.)

In cases where a mother is known to carry an X-linked genetic defect, blood testing for fetal sex tells doctors whether further, invasive testing for the particular genetic disorder should be done. If the fetus is female, invasive tests can be avoided.

In the current study, van der Schoot and her colleagues looked at 201 pregnant women who had blood testing at their lab between 2003 and 2009. The test, done as early as the seventh week of pregnancy, determines fetal sex by looking for two genes found on the Y sex chromosome.

Only men carry the Y chromosome, so when these genes were found in a pregnant woman's blood sample, the fetus was assumed to be male. When the test did not detect the genes, the mother's blood was analyzed further to confirm that certain other fetal DNA was present; with that confirmation, the researchers concluded that the fetus was female.

Of the 201 women in this study, blood tests gave conclusive results to 189. In each case, that result turned out to be correct.

Source

Hormone testing may help doctors predict abnormal childbirth

Testing for low levels of a thyroid hormone shortly before childbirth may help physicians identify women who will require special care during delivery, new research indicates.

Specifically, a study published in the December 23 issue of Clinical Endocrinology, sought to examine whether thyroid hormone levels in the late stages of pregnancy are associated with the head position of a fetus shortly before childbirth, Health Day News reports.

The team of researchers examined the thyroid levels of 960 expectant Dutch mothers and found that those with higher levels of the hormone T4 about 9 months into pregnancy were more likely deliver a baby in the normal delivery position - head first with the fetus facing the mother's back at the start of labor.

Women with lower levels of the hormone more commonly needed assisted delivery because of an abnormal fetal head position, according to the news source.

"We believe that the relationship between thyroid hormone levels and fetal presentation at birth may be explained by recent findings that motor development in children is related to low maternal thyroid hormone concentration during pregnancy," Victor Pop, professor at the University of Tilburg in the Netherlands, told HealthDay News.

According to the Coalition for Improving Maternity Services, almost 32 percent of U.S. births in 2007 took place via cesarean section - a 50 percent increase since 1996.

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Embryo screening test is ‘safe’

An embryo screening test called pre-implantation genetic diagnosis (PGD) is safe for the children of singleton pregnancies, Belgian researchers say.

They looked at 581 children born at one Belgian centre over 13 years who had been screened using the PGD technique.

They found that rates of birth defects and deaths were similar to those of children born using other IVF methods.

However, significantly more deaths just after or before the birth were seen in multiple pregnancies following PGD.

The findings come after concerns that the PGD screening technique, which involves removing some of the embryo's cells at an early stage, could lead to problems.

But the researchers, writing in the journal Human Reproduction, found no significant difference in birth defect rates when compared to 2,889 children born using IVF but who did not undergo the screening.

In total, 2.13% of PGD children had birth defects compared with 3.38% of the other children.

The perinatal death rate - the period immediately before and after birth - was also similar at just over 1% for singleton children in both groups.

However, for multiple pregnancies there was a difference. In the PGD group it was 11.73%, whereas among the others it was 2.54%.

Source

Simple test can spot premature birth false alarms

A simple test can help reliably determine whether signs of an imminent premature delivery are likely to result in a false alarm, research suggests.

Less than half of women showing these signs actually go on to give birth soon after, and they often have to undergo what turn out to be unnecessary tests.

UK researchers found a test that looks for a protein called fetal fibronectin (fFN) could solve the problem.

The study was conducted by University College London.

fFN is the protein that helps attach the foetal sac, in which the foetus develops, to the uterus.

Previous research has shown that when fFN is found to be leaking at a certain stage of pregnancy, a premature birth is more likely.

A test to detect fFN levels is relatively cheap and easy to perform - but it is not commonly used in all maternity units.

It is done at the same time as a vaginal examination, which is routinely carried out when a woman is admitted with abdominal pain in pregnancy.

If the results show low levels of fFN, then the chance of a women having a premature delivery imminently is low.

The researchers conducted an audit to determine whether use of the test made any significant difference.

Initially they analysed 22 cases of women admitted to hospital showing signs of being about to go into premature labor.

Of these, 17 did not give birth during their hospital stay, which averaged just more than eight days.

Most received steroid drugs to improve their baby's lung function, or tocolytic drugs to halt labor contractions.

The situation changed significantly after staff began to use the fFN test.

It proved to be 98.6% accurate in identifying women who, despite showing signs of premature delivery, did not go into labor for at least another two weeks.

As a result just seven women out of 78 who showed signs of being about to go into labor, but who registered low levels of fFN, required hospital treatment - for pain management.

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Participation Needed in Study on Decisions Made during Pregnancy

The National Institute of Health is conducting a study aimed at enhancing decisions about prenatal testing for pregnant women who are uncertain whether they want to undergo amniocentesis or CVS. The purpose of this study is to learn more about how women make decisions whether to have prenatal testing and how to best help them when they are uncertain. The study is done on-line and useful information is provided. The aim is NOT to promote testing, rather they hope to help women make good informed choices. You can take part if you are a pregnant woman eighteen years of age or older considering prenatal testing (amniocentesis or CVS), have not had amniocentesis or CVS and are uncertain whether to have testing.

To participate in the study, click here.

Pregnancy Through the Decades

As hard as pregnancy may be today, it doesn't compare to having a baby several decades ago.

Helen Rohweder: "I had the first one August '36. Richard was in June '38. Carol was March '45."

Compared to 1936, being pregnant today may seem like a piece of cake. If you suspected you were pregnant decades ago, you'd have to see a doctor to confirm your suspicions. The home pregnancy test did not hit the mainstream until the late 1970s. Today all it takes is a dollar and a trip to the store to find out the truth. Home tests are so accurate that doctors don't see a newly-pregnant woman until she's eight weeks along. Now a woman can even test to see if she's fertile at home.

Dr. Joel Carlson: "Fertility evaluation - we have a lot more tests available now if there could be an auto-immune issue, anatomical issue, certainly a hormonal issue with regards to ovulation. We can make ovulation occur on a particular day if we needed to."

As for your diet, nothing was off limits and prenatal care wasn't a big issue. Most pregnant women today are overly cautious about what they do - and don't - put into their bodies. It seems crazy now but not too long ago, moms-to-be were encouraged to have a drink or two to take the edge off during pregnancy.

As for ultrasounds, what ultrasound? Up until the 1980s it was rare for a woman to get an ultrasound if her pregnancy was going smoothly. Before ultrasounds everything - including the gender of the baby - was a surprise. Long gone are those days of not knowing.

Helen: "We'd had two boys so when Caroline was born the doctor just hurriedly came to Walt and said, 'It's a girl. It's a girl.' But we didn't have tests like they do now."

Carlson: "Ultrasound has certainly given us the window inside especially with the invention of 3-d and 4-d ultrasounds where you actually get to see what they look like."

Delivery back then was also for women only. Husbands were typically told to wait outside in the waiting room. There were maternity wards and hospitals, but a lot of women had their babies at home. If you decided to have your baby in the hospital many years ago, the experience was a bit different.

Helen: "When you had a baby then you were in the hospital for 10 days."

Today, moms also have many choices when it comes to their birthing plan. Josie Hatch, a mother of three, had her first child at the hospital and her second and third at home with a midwife. That has become more and more popular these days.

Josie: "The labor was so much less painful at home because it was more comfortable at home."

Pregnancy has changed drastically over the years but the one thing I would go back in time for is that hospital bill.

Helen: "Our son Richard framed the bill from our doctor and it was $25. Can you imagine that now?"

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