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Astrid Cohen
Professor Wolcott
ENC 1102
Ultrasound was first used in WWII to detect submarines. Then in 1955, a surgeon
named Ian Donald started to experiment with it in the medical field. Now an ultrasound is
an imaging method that uses sound waves to produce images of a baby in a mother’s
body. In the last 15 years they have become more and more advanced. They now have 3D
and 4D images of the baby. Ultrasounds are vital to monitor the baby’s health and to see
due date and gender. It has been proven that there are no risks to getting ultrasounds
done. I decided that this is the field that I wanted to go into, and wanted to become an
ultrasound technician. In conversation of his field it is usually gynecologists,
obstetricians, and cardiologists talking.
This annotated bibliography attempts to show how the importance of screening
pregnant women for birth defects with their baby. Doctors and researchers from all over
the world talk about how ultrasound is used to detect birth defects. Several tests are
performed to test the best time to screen and for which defects. A term that is used in
several of the articles is CHD. This means Congenital Heart Defects, which is a heart
abnormality starting in the womb. The articles cover defects from HIV to cleft lip and
clubfoot. Most of the articles came to the same conclusion of when the best time to
screen was. Some of the tests were run in different parts of the world, because in less
developed countries ultrasound is not as easily assessable as it is here. One thing that I
would have liked to seen explained was why they tested those specific number of woman,
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because it was always such a random number that was tested. It is important for
childbearing woman to be educated on when the best time to test is because if found
early, the defect could possibly be treated.
Baardman, M. E., et al. "Impact Of Introduction Of 20-Week Ultrasound Scan On
Prevalence And Fetal And Neonatal Outcomes In Cases Of Selected Severe
Congenital Heart Defects In The Netherlands." Ultrasound In Obstetrics &
Gynecology 44.1 (2014): 58-63. Academic Search Premier. Web. 9 July 2014.
In the Baardman’s (an author at University Medical Centre Groningen), et al.
article they aim to evaluate the effect of adding a 20 week ultrasound on the time
of defect diagnosis, pregnancy outcome, and liveborn prevalence of CHD in the
Netherlands. The tests were done with 269 children and fetuses with CHD born
between 2001 and 2011 in the Netherlands. There were two groups tested: one
dealing with abnormal four-chamber view at ultrasounds (group 1) and the other
dealing with normal view at ultrasounds (group 2). Liveborn prevalence, time of
diagnosis, and outcome of the pregnancy were compared over two 5-year periods.
One of the periods was before the 20 week ultrasound and the other after the
ultrasound. The results were that the detection of CHD increased after the 20
week ultrasound was applied. But, group 2 had less of an increase than group1.
Group 1 was the only group that had an increase in the rate of termination of the
pregnancy. The prevalence of CHD in group1 did have an increase but liveborn
prevalence did not. Group 2 showed no inclination in total prevalence or
liveborns. This means that access to the abnormal four-chamber view gives better
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results for detection. This article relates to my research topic because it shows
how the use of ultrasounds can help find heart defects before the child is born.
Barisic, I., Clementi, M., Häusler, M., Gjergja, R., Kern, J. and Stoll, C. (2001),
Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by 19
European registries. Ultrasound Obstet Gynecol, 18: 309–316.
doi: 10.1046/j.0960-7692.2001.00534.x
Barisic, et al., doctors at the Children’s Hospital in Croatia write this academic
article to evaluate the effectiveness of doing routine ultrasounds to detect
gastroschisis and omphalocele in Europe. Gastroschisis is a congenital
abnormality in the abdominal wall, and omphalocele is a hernia going into the
base of the umbilical cord. The data was collected from 19 different congenial
malformation registries from 11 European countries from 1996 to 1998. The study
was done with 690,123 pregnancies. The detection rate of omphalocele was 75%
and 59% of that was associated with another defect. Detection rate of
Gastroschisis was 83%, with 41% correlated with another abnormality. It was
common that a baby with a defect having to do with the abdominal had another
defect as well. They saw that there was a high rate of terminated pregnancies even
if they mother was told that the defect could be fixed through surgery after the
delivery. This shows that abortion is more acceptable in European countries than
it is in the United States. This study shows that there is a high detection rate of
abdominal defects and that some of them could actually be fixed if the pregnancy
isn’t terminated.
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Campana, H, et al. "Prenatal Sonographic Detection Of Birth Defects In 18 Hospitals
From South America." Journal Of Ultrasound In Medicine 29.2 (n.d.): 203-212.
Science Citation Index. Web. 9 July 2014.
Campana, et al. from Laboratory of Genetic Epidemiology, in this articles main
point was to find the accuracy of detecting birth defects and gestational age of
detection through ultrasound in South America. The testing took place in 18
South America hospitals, some being public and some nonpublic. It was found
that the women in the nonpublic hospitals were older and had more maternal
knowledge. The hospitals were open to the doctors observing and recording notes
of the fetuses with defects. 450 malformed pregnancies were followed through the
birth of the baby, with more than half of them getting their diagnosis through
ultrasound. The doctors found that cleft lip and clubfoot were the easiest to detect
because of the physical aspects of the defect. And the detection of central nervous
system and genitourinary (urinary organ) defects were greater than 80%. The
researchers did not do studies on really rare abnormalities because the sample size
of the testing was so small. The doctors came to the conclusion that South
America has very similar levels of defect detections as developed countries. Rates
between the public and nonpublic hospitals were similar as well, but
abnormalities were detected earlier in the nonpublic hospitals. One difference that
they did find in the studies was that South America’s gestational age for detection
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was later than the more developed countries. These results show that non public
hospitals are probably better to go to in order of early detection.
Chew, C., Halliday, J. L., Riley, M. M. and Penny, D. J. (2007), Population-based study
of antenatal detection of congenital heart disease by ultrasound examination.
Ultrasound Obstet Gynecol, 29: 619–624. doi: 10.1002/uog.4023
In this academic journal, Chew, et al., cardiologists in Australia, they aim to
evaluate the detection rates of CHD in the Victorian Perinatal Data Collection
Unit, Victoria for short. Victoria is surveillance system to analyze information on
the health of mothers and babies to provide health improvements. Between 1993
and 2002 there were 631,209 births in the Victoria database, 4,897 of those
having a CHD. They did the testing on cases from 1999 to 202 of seven different
heart defects. With these seven defects they took measurements of the diagnosis,
the pregnancy outcome, and malformations. The antenatal detection rate was
52.8%, and all but 4.8% of that had ultrasounds at 13 weeks. Hypoplastic left
heart syndrome (left side of the heart is critically underdeveloped) was highest of
detection at 84.6%. Transposition of great arteries (the two main arteries going
out of the heart are switched in position) was lowest with 17% as the detection
rate. This kind of defect should have a higher rate of detection so the doctors
suggest a frequent screening. In the end the doctors saw that there wide variation
of CHD detection rates through the Victoria. This article shows another system
used to find defects with fetuses.
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Cragan, JD, and SM Gilboa. "Including Prenatal Diagnoses In Birth Defects Monitoring:
Experience Of The Metropolitan Atlanta Congenital Defects Program." Birth
Defects Research Part A-Clinical And Molecular Teratology 85.1 (n.d.): 20-29.
Science Citation Index. Web. 9 July 2014.
Cragan, American College of Obstetricians and Gynecologists United States, and
Gilboa, Center of Disease Control and Prevention, article is a study and
discussion about the advances in prenatal screening. The authors use tests from
birth defect programs, especially the Metropolitan Atlanta Congenital Defect
Program (MACDP), to stress the importance of prenatal diagnostics of birth
defects. The MACDP went from doctor to doctor to get information about the
screenings done of pregnancies with defects. The tests were done to see the array
of defects and the effect on the pregnancy’s outcome and to keep track of the
prevalence of congenital defects. Congenital was a word that they used many
times through out the article. It means starting from birth. Some of the congenital
defects that Cragan and Gilboa talked about were abnormalities like bilateral
hydronephrosis (not being able to drain urine from the bladder), or heart problems
like atrioventricular septal defect (holes in the chambers of the heart). With the
heart defects the MACDP classified as definite, probable, or possible. With nonheart defects they were more simply classified as either definite or possible. They
also talked about how very severe abnormalities, if caught in the first trimester,
are sometimes terminated. Some of the tests used to detect defects are serum
markers and measurements of nuchal translucency (fluid under baby’s skin) done
through ultrasound. This shows how important it is for pregnant mothers to get
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prenatal ultrasounds to screen for defects of their baby.
Fergal, Malone. "First-Trimester or Second-Trimester Screening, or Both, for
Down's Syndrome — NEJM." New England Journal of Medicine. N.p., 5 Nov.
2005. Web. 9 July 2014.
This article is about the detection of fetal down’s syndrome through ultrasounds.
Malone (Obstetrics & Gynaecology
Consultant Obstetrician &
Gynaecologist
Subspecialist), et al. talk about the tests done in order to come up
with the most reliable result in detection of this birth defect. The women
underwent serum marker and nuchal translucency testing in their first trimester of
the pregnancy then again in their second trimester. The doctors tried different
things by just using of the tests instead of both the tests together or did different
tests in different trimesters. 38,167 women were tested; 117 diagnosed with
Down’s syndrome and 5% of that were false positives. They came to the
conclusion that it is best to use both the serum marker test and nuchal
translucency test together comes up with clearer results. They also saw, in order
to come up with the least amount of false positives, they had to do the testing in
the woman’s first trimester. The doctors did exclude women who were pregnant
with more than one child in these tests because it is hard to do the serum marker
and translucency tests, therefore not coming up with the best results. These tests
illustrate when the best time is to test for fetal Down’s syndrome and what tests to
use.
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Khalil, Asma, and Kypros H. Nicolaides. "Fetal Heart Defects: Potential And Pitfalls Of
First-Trimester Detection." Seminars In Fetal And Neonatal Medicine 5 (2013):
251. Academic OneFile. Web. 9 July 2014.
This article is about detecting Congenital Heart Defects (CHD) through
ultrasound in the first trimester, done by Khalil and Nicolaides, two researchers
from the University of London. It takes about the high-risk groups and can help
echocardiographics improve detection. CHD accounts for one-third of all
congenital abnormalities, which are usually correlated with fetal aneuploidy
(chromosome number isn’t an exact multiple of the number characteristic) and
genetic syndromes. Their largest study involved 44,589 pregnancies and the rate
of CHD detection was 34%. In the last 15 years there has been a change in the
time of screening, to the first trimester as opposed to later in the pregnancy.
Detecting the defect early can help with the ability of scheduling additional tests
before it is too late to terminate the pregnancy if needed. Although it is better the
earlier the mother knows, early detailed tests require high expertise. The
conclusion that they came to was that the use of transvaginal ultrasound and new
techniques lead to improvement of detection. These results just show that
pregnant woman should get their ultrasounds done early so they can get the best
detection of defect of their baby. This article shows the importance of early
detection.
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Kresser, Chris. "Natural Childbirth IIa: Is Ultrasound Necessary & Effective in
Pregnancy?" Chris Kresser. N.p., n.d. Web. 10 July 2014.
In this popular article by Chris Kesser, a health detective, there is a clarification of
issues about ultrasound use. He uses the phrase RPU (routine prenatal ultrasound)
a lot when talking about if it is completely necessary for detecting things besides
the basic baby information. Routine prenatal ultrasounds are primarily used to
predict due date, the gender of the baby and any serious abnormalities. But
Kresser did research and saw that major care centers miss about 40% of
abnormalities. This is because many defects are impossible to detect, such as
cerebral palsy and autism. Heart and kidney defects are very unlikely to detect as
well. In fact, in a study done in the UK, 1 in 200 babies are terminated because
the mothers were told that their defect was much more severe than it actually was.
In that same study 2.4% of babies with abnormalities that weren’t aborted were
either over or under- diagnosed. In a different study 10% of babies weren’t
diagnosed with severe abnormalities when they actually did have them. In the end
Kresser saw that there was no serious risk in getting a RPU to detect
abnormalities but there is a chance for false positives or misdiagnosis. This article
is a good example of how ultrasound is very helpful but can be misleading at
times.
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Miller, Morton W., Heath E. Miller, and Charles C. Church. "A New Perspective On
Hyperthermia-Induced Birth Defects: The Role Of Activation Energy And Its
Relation To Obstetric Ultrasound." Journal Of Thermal Biology 5 (2005): 400.
Academic OneFile. Web. 9 July 2014.
Morton Miller (Department of Obstetrics and Gynecology), et.al., writes about a
study that shows the effect of hypothermic conditions on birth defects. The article
talks about historical data of effects and then a mathematical approach to the
activation energy of the hypothermic conditions. It shows the calculation of ricks
for the different risks used in the tests. This kind of testing is long term because
the whole pregnancy needs to be followed. The rate of defects were lower under
normal conditions but had higher rates when there was different timing of the
application of hypothermic events. The researchers noticed that activation energy
plays a role in the detection of abnormalities. The more frequent the defect, the
lower the activation energy was. They saw that when the temperature of the
embryo is higher, there is an increase in the occurrence of outcomes that led to
birth defects through chemical reactions. Any rise in temperature above the
normal human level has more of a potential of inducing an abnormality. These
results mean that if the pregnancy has any interaction with high levels of
hypothermic conditions then the baby is in danger of having a birth defect. This is
an important topic of research because it is showing a risk that pregnant woman
should avoid in order of having a healthy baby.
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Pilalis, Athanasios, et al. "Evaluation Of A Two-Step Ultrasound Examination Protocol
For The Detection Of Major Fetal Structural Defects." Journal Of Maternal-Fetal
& Neonatal Medicine 25.9 (2012): 1814-1817. Academic Search Premier. Web. 9
July 2014.
Pilalis, a doctor at Leto Maternity Hospital in Greece, et al., did tests to evaluate a
two step screening at 11-14 and 20-24 weeks to test when the best time to test for
defects is. The study was done in one private maternity hospital and the 3,902
pregnant mothers got the testing and delivery done there, but the doctors didn’t
follow the testing after the baby was discharged from the hospital. The tests were
done during the first and second trimester and through anomaly scans. In
conclusion, they found that the best testing was to at 11-14 weeks. 61 of the
fetuses were diagnosed with structural defects. 26 were diagnosed in the first
trimester, and 29 in the second. Then six were diagnosed in the third trimester or
after they were delivered. Then detection rate of the abnormalities was 90.2%
with 40% of that being in the first trimester. The doctors decided that major
defects were classified as needing surgery or medical treatment. They realized
that testing in the first trimester was better for abdominal wall defects and limb
reduction defects, but didn’t have the best results for cardiac defects. It was
suggested by one of the doctors to have better training that will increase the
abilities of the ultrasound technicians. This article proves that certain tests are
better to do in certain trimesters.
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Reitter, A., et al. "Prenatal Ultrasound Screening For Fetal Anomalies And Outcomes In
High-Risk Pregnancies Due To Maternal HIV Infection: A Retrospective Study."
Infectious Diseases In Obstetrics And Gynecology (2013): Academic OneFile.
Web. 9 July 2014.
In this article Reitter, an obstetric and gynecologist at the University Hospital
Frankfurt, et al., do studies to evaluate the prevalence of prenatal screening and
outcomes of pregnancies with woman with HIV. The test involved 330 HIV
pregnancies attending prenatal ultrasounds from 2002 to 2012. One of the biggest
things they studied was the mother to child transmission of the HIV. 100 out of
the 330 had early normal scans, 252 had detailed scans at 20 weeks, 18 had scans
very prior to the birth, and 3 had amniocentesis (sampling of amniotic fluids). The
overall prevalence was about 74.5% but there were some cases that were missed.
They came to the conclusion that third trimester scanning is the best for the
clearest results for the baby. They also saw that there is a low fetal deformity rate
in woman giving birth with HIV. Any postnatal defects that they saw were very
minor such as skin tags. So through theses studies we saw when the best timing
for testing is and that there are no big risks to these tests.
Smith-Bindman R, Hosmer W, Feldstein VA, Deeks JJ, Goldberg JD. Second-Trimester
Ultrasound to Detect Fetuses With Down Syndrome: A Meta-analysis. JAMA.
2001;285(8):1044-1055. doi:10.1001/jama.285.8.1044.
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Smith-Bindman, et al., from the department of radiology, they aim to determine
the accuracy of detection down syndrome through ultrasound. Second trimester
screening is very common but the accuracy is not known. The information for this
academic journal came from articles publishes between 1980 and 1999 through
MEDLINE (biomedical journals and citations). There were 56 articles describing
1,930 fetuses with down’s syndrome, but 130365 that were not affected by this
defect. Chromosomal defects occur in .1%- .2% of live births. Babies born with
these defects have a higher risk of having structural defects as well, such as
congenital heart defects. The doctors realized that without the baby having
structural differences it was harder for ultrasound technicians to detect down’s
syndrome. They saw that a thick nuchal fold on the baby can be helpful in
detection but the sensitivity for this is very low. So the doctors came to the
conclusion that there was really no specific way to detect down’s syndrome
through ultrasound without there being structural differences. This, once again,
shows that getting screening for down’s syndrome could be very important.
Spencer, K., Spencer, C. E., Power, M., Dawson, C. and Nicolaides, K. H. (2003),
Screening for chromosomal abnormalities in the first trimester using ultrasound
and maternal serum biochemistry in a one-stop clinic: a review of three years
prospective experience. BJOG: An International Journal of Obstetrics &
Gynecology.
Spencer, et al., biochemists in the United Kingdom, evaluate the performance of a
one- stop multidisciplinary clinic to screen for chromosomal abnormalities with a
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fetus. The study is done with a combination of serum biochemistry and
ultrasonography in the first trimester of pregnancy. It took place in the Harold
Wood Hospital between the years of 1998 and 2001. 12,339 women were studied
at 10-14 weeks into their pregnancy. The woman’s race was taken into
consideration as well. The results were that there was a 92% rate of detection for
down’s syndrome and 100% for all other chromosomal defects. All other nonchromosomal defects were at 96%. The false positive rate was at 5.2%. 223 of the
12,339 were fetal deaths. They noticed that the detection rate was a lot better in
the second trimester serum screening. No women in this study had both first and
second trimester screenings; it was either one or the other. This study showed that
there was high detection rate of chromosomal abnormalities and even of other
defects as well. The combination of the two tests were good enough for close to
100% detection rates.
Weedn, Ashley E., et al. "Maternal Reporting Of Prenatal Ultrasounds Among Women In
The National Birth Defects Prevention Study." Birth Defects Research 100.1
(n.d.): 4-12. Biological Abstracts 1969 - Present. Web. 9 July 2014.
In this academic journal, Ashley Weedn (University of Oklahoma Health Services
Center), et al. try to determine the frequency of maternal reporting of defects for
certain births. To do this study they had to inspect the maternal characterisics.
Birth defects are the leading cause of infant mortality, and 3% of live births are
affected by abnormalities. There were 4013 mothers carrying babies with 1 of 14
structural defects between 1997 and 2004. The frequency depended on the type of
defect, race of the mother, and the mother’s body mass index. It turned out that
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46% of the mothers reported abnormalities with their baby. The doctors noticed
that Hispanic women were less likely to report it than Caucasian women. Of the
14 selected births there was less than half abnormal ultrasounds reported. Out of
711 abnormalities detected there were only 360 maternal reports of it. It is
important for mothers to report their babies defects because if there could be a
way to prevent any worse abnormalities or any treatments that could be done.
This study was important because reporting birth defects to the right person could
save the babies life and prevent worse things from happening.
Wiesel, A., et al. “Prenatal Detection of Congenital Renal Malformations by Fetal
Ultrasonographic Examination: An Analysis of 709,030 Births in 12 European
Countries” European Journal of Medical Genetics Volume 48 Issue 2. April–June
2005. 14 July 2014.
Wiesel, et al. (University Children’s Hospital Mainz, Germany), aim to evaluate
the prevalence of prenatal ultrasound diagnosis in 20 registries in 12 different
European countries. They did a comparison of different prenatal scan policies as
well. The study was done with 709,030 live births, stillbirths, and induced
abortions over a two and a half year period. At least one defect in 1130 infants
and fetuses was found. The results were that there was an 81% prenatal diagnosis,
with 29% of those being terminated. The highest detection rate was with
unilalteral mulitcystic dysplastic kidneys (mulitiple cysts of varying size in the
kidneys) at 97%. The detection rate varied between countries because of policies,
ethical and religious reasons, and the insurance of the mothers. Countries with no
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routine scan resulted in lowest rates of detection and termination. This study
shows that most defects are seen before the baby is born but there was higher rate
of termination than in the United States. It is important for woman to get prenatal
scans so they can detect their baby’s defect quickly and can get help with it if
needed.