Posts Tagged ‘ fetal medicine ’

In-Utero Surgeries More Common, Life-Changing

Thursday, July 24th, 2014

New methods of performing surgeries while babies are still inside their mothers’ wombs are becoming more common, in many cases greatly improving the quality of life of babies who are diagnosed with potentially serious conditions affecting the heart, bladder, larynx, and more.  One medical group in Mexico has successfully performed 200 such surgeries, and its doctors note that the new technologies and technique for what’s called “fetal medicine” are improving and becoming more widely available, parents need to be better educated about their medical options, especially if they are experiencing a high-risk pregnancy. More from ScienceDaily:

Although Mexico Fetal Medicine Group, located in Queretaro, has established itself as a cross reference for prenatal health in the country, Méndez González recognizes that there is a lack of prenatal drug culture among Mexican parents. “Generally the pregnancy situation is consulted to gynecologists, who are not necessarily specialists in fetal medicine. Lacking experience in this discipline, sometimes the detection of health problems is too late for the baby,” said the specialist at Fetal Medicine Mexico.

In the words of the medical specialist, consolidating a cross reference in fetal medicine in the country has positive effects such as the accumulation of knowledge and experience to practice and investigate medicine in unborn babies. Méndez González noted that the emergence of ultrasound changed the way people see pregnancy as the unborn baby began to be considered as a patient in need of its own care.

Last month, a new technology was announced that can perform in-utero surgeries, using a tiny robotic arm, on babies who are diagnosed with spina bifida, a condition which affects 1 in 2,500 babies worldwide.

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Blood Test Improving Early Detection of Fetal Abnormalities

Friday, February 28th, 2014

A simple blood test taken early in pregnancy is showing high degrees of accuracy in predicting chromosomal abnormalities in fetuses, a study published in the New England Journal of Medicine has found.  The finding is welcome news to pregnant women who worry about having invasive prenatal screenings, some of which, like amniocentesis, carry a small risk of miscarriage.  More from The New York Times:

The study, published on Wednesday in The New England Journal of Medicine, found that the fetal DNA test was 10 times better in predicting cases of Down syndrome than the standard blood test and ultrasound screening, and five times better in predicting the other disorder, Trisomy 18. It also greatly reduced the number of false-positive results.

It could prevent many women who would otherwise get the standard blood test from needing to confirm positive results with invasive tests like amniocentesis or chorionic villus sampling, which can be stressful, much more costly and carry small risks of miscarriage. “Nine out of 10 women who are currently being referred for further testing would not need invasive tests,” said the lead author of the study, Dr. Diana Bianchi, the executive director of the Mother Infant Research Institute at Tufts Medical Center’s Floating Hospital for Children.

A positive result on the DNA screening would still need to be confirmed with invasive tests, because in more than half the cases in which the newer test predicted a disorder, there was no chromosomal abnormality. But a negative result would provide confidence that these two major chromosomal disorders are absent.

“It’s a better mousetrap, there’s no doubt about that,” said Dr. Michael Greene, director of obstetrics at Massachusetts General Hospital and co-author of an editorial about the study. “If the test is normal, the overwhelming probability is that your fetus is normal. There will be far fewer women who will be encouraged to have invasive testing, and, as a result, far fewer miscarriages.”

The screen analyzes blood from women who are at least 10 weeks pregnant. At that point, about 10 percent of DNA in the blood will be fetal DNA from the placenta, Dr. Bianchi said.

Image: Pregnant woman at the doctor, via Shutterstock

The results of our Ancient Chinese Gender Predictor could spill the beans about whether you’re having a boy or girl.

Should You Have an Amniocentesis?
Should You Have an Amniocentesis?
Should You Have an Amniocentesis?

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Down Syndrome Detection Improving Among Younger Moms

Thursday, February 6th, 2014

Younger women are availing themselves of safe, easy ways to screen for chromosomal abnormalities like Down syndrome, according to new research conducted by British researchers.  Because Down syndrome is more common in babies born to older mothers, many younger women had previously tended to avoid screening because of concerns over invasive tests like amniocentesis.  More on the new study from the researchers:

New figures from the National Down Syndrome Cytogenetic Register (NDSCR) based at Queen Mary University of London, reveal the proportion of Down syndrome cases diagnosed antenatally has increased in younger women. Furthermore, Down syndrome diagnoses are occurring earlier in pregnancy for women of all ages.

The NDSCR is the only national source of data on pre and postnatal diagnoses of Down, Patau and Edwards syndrome cases in England and Wales. The latest figures are captured in the new NDSCR Annual Report 2012.

Key findings from the report (all figures from 2012):

  • There were 1,982 diagnoses of Down syndrome, 64% of which were made during pregnancy.
  • There were an estimated 775 babies born with Down syndrome (an increase from 739 in 2011 and 734 in 2010).
  • The proportion of women under 35 receiving a diagnosis of Down syndrome during pregnancy has increased from 54% in 2008 to 66% in 2012. The proportion for women 35 and over remained constant at 71% from 2008 to 2012.
  • The proportion of women receiving a diagnoses of Down syndrome during pregnancy after screening in the first three months of pregnancy (first trimester) increased from 45% in 2008 to 77% in 2012 for women under 35 and from 68% in 2008 to 80% of 2012 for women 35 and over.
  • The proportion of women having a termination after a diagnosis of Down syndrome during pregnancy has decreased from 92% in 1989-2010 to 90% in 2011-12.

Image: Pregnant woman getting ultrasound, via ChameleonsEye / Shutterstock.com

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