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Controversies of pre-natal screening: L.H

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Controversies of pre-natal screening: L.H

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The main controversy in prenatal screening is if the test is done and a defect is found, would the parents decide to abort the child .

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Genetic screening and the need to speak candidly

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Statistics of woman who do get pre-natal screening- L.H

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Statistics of woman who do get pre-natal screening- L.H

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Many doctors say it is recommended to mothers to get a pre-natal screening to see if the baby has an genetic defects or down syndrome. Mothers that are more well informed about the risks of getting a pre-natal screening opt out. In a study by the Journal of the American Medicine Association, pregnant woman were given classes on the pros and cons, the ethical issues, and the effects as well. After a couple days of taking the class, only 5% of 710 woman wanted to do the screening. The reason why the woman wanted to do the screening is because they wanted to see if their child had down syndrome. In the United States, the population of individuals with down syndrome has been reduced to approximately 30%. Another study calculated a weighted mean across the U.S. of a 67% termination rate following prenatal diagnosis

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How many babies prenatally diagnosed with Down syndrome (DS) are aborted in the United States each year? Well, we don't know. While new data suggesting lower numbers has recently been published,[1] we continue to see most often in print a statistics of 90% - 92%. While that certainly draws attention to the horrifying reality that the majority of children prenatally diagnosed with DS are aborted, it is not accurate. That number relies on a 1999 European study with little data drawn from the U.S.[2] There are good reasons for advocates to use the best data available to raise awareness of the problem that exists in the link between prenatal diagnosis and abortion.

A new study conducted by Gert de Graaf, Frank Buckley, and Brian Skotko and recently published in the American Journal of Medical Genetics[3] applies rigorous statistical modeling to diverse data sets in an attempt to provide the most accurate number possible. It is important to know over time what impact relatively new noninvasive prenatal screening (NIPS) technologies, only available since October 2011, will have on the already high termination rate after a prenatal diagnosis of DS.

These new NIPS tests are able to identify cell-free DNA from the placenta in the mother's blood as early as 10 weeks into her pregnancy, and claim to inform women - with near 99% sensitivity and specificity - if the baby she is carrying might have DS. Recent reports have indicated that some women are using these tests to make the decision to end their pregnancy without having the result confirmed with an invasive diagnostic test.[4] To understand the impact this new technology will have over time on birth rates of children with DS, it is essential to establish a benchmark that can be used for future comparison.

Unlike the U.S., some countries track birth defects in national registries along with prenatal diagnosis and termination rates, so there are little or no vagaries around this question. For example, the National Down Syndrome Cytogenetic Register (NDSCR) is a part of the larger British Isles Network of Congenital Anomaly Registers.[5] Both of these are part of EUROCAT, the broader European network of population-based registries that compiles epidemiological data on congenital anomalies across Europe. The NDSCR collects information on all diagnoses of trisomies 13, 18, and 21 in England and Wales. With a few clicks of a mouse, anyone can access the database and learn the prevalence, prenatal detection rates, and other key public health indicators related to genetic anomalies.

For example, using information gathered from all member registries, from 2008 to 2012, there were 4,288 live births of children with DS, 231 natural fetal deaths, and 5,215 terminations. DS live births as a percentage of total diagnosed pregnancies was 44%. Fifty-three percent of all pregnancies were aborted following prenatal diagnosis and a small percentage were lost to natural causes. We can also learn that during the same four-year period, 65.1% of the total DS cases were prenatally diagnosed.[6]

In the United States, we have no such data collection. And given how polarized we are as a nation around the topic of abortion and the strong value placed on the right to privacy, there is little chance that this level of data collection will ever be possible.

The authors of this study gathered data that is available and devised a sophisticated statistical model to estimate as closely as possible the impact of prenatal diagnosis on abortion rates. They then asked this question: How many children with DS have been born, and what has been the net effect of pregnancy terminations following prenatal testing on live birth prevalence during the period from 1900-2010? Given that prenatal diagnosis and legal abortion weren't available before about 1974, the authors focused on the years from 1974 to 2010 to develop their estimates.

In brief, the answer to their question is that for the most recent years, 2006-2010:

The estimated live birth prevalence for DS was approximately 12.6 per 10,000, or a total of around 5,300 births each year;

The number of pregnancy terminations following prenatal diagnosis is estimated at 3,100;

Taking natural losses into account, the authors estimate that there would have been 7,600 live births each year in the absence of prenatal diagnosis that resulted in abortion;

Their estimate of live-birth prevalence for 2010 is around 1 in 792, or slightly fewer births than the 14.47 per 10,000, or 1 in 691, live-birth prevalence published by the Centers for Disease Control (2004-2006 estimates).[7]

The net result of their research is that abortion after prenatal diagnosis has reduced the population of individuals living with DS in the U.S. by approximately 30%. This should not be confused with the percentage of women who abort following a prenatal diagnosis. That number would certainly be higher. This reflects the overall reduction in the DS population, and takes into consideration total DS pregnancies, whether prenatally diagnosed or not. The authors state that prior to October 2011 and the availability of NIPS, about 72% of women elected to have traditional prenatal screens and only an estimated maximum of 2% went on to have invasive diagnostic procedures, i.e., amniocentesis or chorionic villus sampling. If prenatal screening becomes more widely available, as seems to be happening, then one would expect the number of terminations to increase.

As an interesting aside, the authors estimate the total case prevalence of DS in the U.S., excluding elective termination and natural loss, to be 1 in 365. This number correlates closely with the reported live birth incidence of DS in the Arab world where abortion for DS is not permitted. The birth prevalence in Dubai is estimated at 1 in 449 overall, but much greater among the Emiratis: 1 in 319.[8]

In this publication, the authors have identified regional and racial/ethnic differences in the prevalence of abortion following prenatal diagnosis by drawing data from 12 states that maintain live birth data of DS births by racial/ethnic group. The group with the highest number of terminations was Asians/Pacific Islanders (61%) followed by non-Hispanic whites (39%), non-Hispanic blacks/Africans (27%), Hispanics (18%), and American Indians (16%). Regionally, Hawaii and the Northeast states have the highest termination rates compared to other regions of the US at 62% and 46%, respectively. The South is the lowest with an overall reduction rate of approximately 23%.

The authors of this study have provided valuable baseline data that should help frame the discussion of the impact of prenatal diagnosis on future termination rates.

The fact that there have been no clear-cut statistics in the U.S. regarding how many women receive a prenatal diagnosis for DS, their subsequent decision regarding birth, termination, or adoption is frustrating. It is equally frustrating that there is no accurate census of the population living with DS in the U.S. Another statistically based study published in 2013 revised the estimated population of those living with DS in the U.S. in 2008 from a previously estimated number of 400,000 to around 250,000 - that represents a 25%-40% reduction in population that could substantially impact services and supports, and also potential funding made available for research.

Using the statistic of 90% or 92% when citing abortions of babies with DS indeed presents a horrifying scenario, but in truth so do the numbers derived from more recent and presumably accurate surveys. DS advocates should consider the impact using old and inaccurate data might have on those considering their options following a prenatal diagnosis of DS. Hearing that 90% to 92% of parents opt for termination might have the opposite effect from what advocates desire and even encourage those who would consider abortion after a prenatal diagnosis.

Advocates would be far better served by using the statistics provided in this new study, i.e., that it is estimated that abortion following a prenatal diagnosis of DS results in a 30% reduction in overall DS births. Jamie Natoli, et al., proposed another statistic that correlates well with this study. In a 2012 publication in Prenatal Diagnosis, their research calculated a weighted mean across the U.S. of a 67% termination rate following prenatal diagnosis.[9]

Whatever the statistical realities may be, the number of those who choose abortion after a prenatal diagnosis is far too high. It should be none. To paraphrase the recently deceased disabilities rights activist, Dr. Adrienne Asch, the only thing prenatal diagnosis can provide is a first impression of who a child will be. Making such a radical decision as to end the life of a child based upon a first impression is a most horrible and violent form of discrimination. It has no place in an American society that is committed to ending discrimination in any form and that has intensified that effort for persons with disabilities over the last 25 years since the signing of the Americans with Disabilities Act in July 1990.
Mark Bradford is president of the Jérôme Lejeune Foundation USA.
[1] Jaime L Natoli, et al. (2012), Prenatal Diagnosis of Down Syndrome: A Systematic Review of Termination Rates (1995 - 2011). Prenat. Diagn., 32: 142-153. doi: 10.1002/pd.2910

[2] Caroline Mansfield, Suellen Hopfer and Theresa M. Marteau on behalf of European Concerted Action. (1999), Termination Rates after Prenatal Diagnosis of Down Syndrome, Spina Bifida, Anencephaly, and Turner and Klinefelter Syndromes: A Systematic Literature Review. Prenat. Diagn., 19: 808-812. doi: 10.1002/(SICI)1097-0223(199909)19:9<808::AID-PD637>3.0.CO;2-B

[3] Gert de Graaf, Frank F. Buckley, Brian G. Skotko. (2015), Estimates of the live births, natural losses, and elective terminations with down syndrome in the United States.

Am J Med Genet Part A 167A:756-767.

[4] Beth Daley, "Oversold and misunderstood: Prenatal screening tests prompt abortions." New England Center for Investigative Reporting. Accessed online at http://features.necir.org/prenatal-testing

[5] See http://www.binocar.org/data

[6] See http://www.eurocat-network.eu/prenatalscreeninganddiagnosis/prenataldetection(pd)rates

[7] See http://www.cdc.gov/ncbddd/birthdefects/features/birthdefects-keyfindings.html

[8] See http://www.researchgate.net/publication/6641058_Incidence_of_Down_syndrome_in_ Dubai_UAE

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New Study: Abortion after Prenatal Diagnosis of Down Syndrome Reduces Down Syndrome Community by Thirty Percent

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How many babies prenatally diagnosed with Down syndrome (DS) are aborted in the United States each year? Well, we don't know. While new data suggesting lower numbers has recently been published,[1] we continue to see most often in print a statistics of 90% - 92%.

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Which Pre-Natal Screenings are mandated by state, which are voluntary, and which are only available in high-work?- A.W

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Which Pre-Natal Screenings are mandated by state, which are voluntary, and which are only available in high-work?- A.W

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In California, providers of pre-natal care have been required to offer alpha-feto-protein (AFP) screening to provide a change to detect neural tube defects. This AFP screening is voluntary but all woman who would not like the screening are required to sign a "informed consent/refusal" statement. 25 states in the U.S. require an ultrasound, the rest do not. 14 of the states that do not require an ultrasound still made it mandatory for woman to receive information  on accessing ultrasound services. A Chorionic Villus Sampling(CVS) is not mandatory by any state but will be highly recommended to some pregnant woman for many reasons, such as, if you have a child with down syndrome already, your partner carries an abnormal gene, you or your partner have a history or genetic disorder, or your test suggests you have a higher chance of having a child with a disability then average.

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Prenatal screening tests are a set of procedures that are performed during pregnancy on expectant mothers to determine whether a baby is likely to have specific birth defects. Most of these tests are noninvasive. They're usually performed during the first and second trimesters, although some are performed during the third.

A screening test can only provide your risk, or probability, that a particular condition exists. When the results of a screening test are positive, diagnostic tests can provide a definitive answer.

Some prenatal screening tests are routine procedures, such as glucose tolerance tests, which check for gestational diabetes. Women who have a higher risk of having a child with certain conditions are usually offered additional screening tests. For example, pregnant women who've lived in regions where tuberculosis is common should have a tuberculin skin test.

First trimester screening tests can begin as early as 10 weeks. These usually involve blood tests and an ultrasound. They test your baby's overall development and check to see if your baby is at risk for genetic conditions, such as Down syndrome. They also check your baby for heart defects, cystic fibrosis, and other developmental problems.

Second trimester screening tests occur between 14 and 18 weeks. They can involve a blood test, which tests whether a mother is at risk for having a child with Down syndrome or neural tube defects, as well as an ultrasound.

Ultrasound

An ultrasound uses sound waves to create an image of the baby in the uterus. The test is used to determine the size and position of your baby, confirm how far along you are in your pregnancy, and find any potential abnormalities in the structure of your baby's growing bones and organs.

A special ultrasound called a nuchal translucency ultrasound is performed between the 11th and 14th weeks of pregnancy. This ultrasound checks the accumulation of fluid at the back of your baby's neck. When there's more fluid than normal, this means there's a higher risk of Down syndrome.

During the second trimester, a more detailed ultrasound, which is often called a fetal anatomy survey, is used to evaluate the baby carefully from head to toe for any birth defects. However, not all birth defects are visible by ultrasound.

Early Blood Tests

During the first trimester, two types of blood tests called a sequential integrated screening test and a serum integrated screening are conducted. They're used to measure the levels of certain substances in your blood, namely, pregnancy-associated plasma protein-A and a hormone called human chorionic gonadotropin. Abnormal levels of either mean there's a higher risk of a chromosome abnormality.

At your first prenatal visit, your blood may also be tested to see if you're immunized against rubella and to screen for syphilis, hepatitis B, and HIV.

A blood test will also be used to determine your blood type and Rh factor, which determines your Rh compatibility with your growing fetus. You can be either Rh-positive or Rh-negative. Most people are Rh-positive, but if a mother is found to be Rh-negative, her body will produce antibodies that will affect any subsequent pregnancies.

When there's an Rh incompatibility, most women will be given a shot of Rh-immune globulin at 28 weeks and again a few days after delivery. Incompatibility occurs if a woman is Rh-negative and her baby is Rh-positive. If the woman is Rh-negative and her baby's positive, she'll need the shot. If her baby is Rh-negative, she won't.

Chorionic Villus Sampling

Chorionic villus sampling is an invasive screening test that involves taking a small piece of tissue from the placenta. It's usually performed between the 10th and 12th weeks and is used to test for genetic abnormalities, like Down syndrome, and birth defects. There are two types. One type tests through the belly, which is called a transabdominal test, and one type tests through the cervix, which is called a transcervical test.

Testing has some side effects, like cramps or spotting. There's also a small risk of miscarriage.

Blood Tests

A quad marker screening test is a blood test conducted during the second trimester. It's done to test your blood for indications of birth defects, such as Down syndrome. It measures four of the fetal proteins.

A quad marker screening is typically offered if you start prenatal care too late to receive either the serum integrated screening or the sequential integrated screening. It has a lower detection rate for Down syndrome and other birth defects than a sequential integrated screening test or serum integrated screening test.

Glucose Screening

A glucose screening test checks for gestational diabetes. This is usually a condition that can develop during pregnancy. It's usually temporary. Gestational diabetes can increase your potential need for a caesarean delivery because babies of mothers with gestational diabetes are usually born larger. Your child may also have low blood sugar in the days following delivery.

The test is usually performed during the second trimester. It involves drinking a sugary solution, having your blood drawn, and then checking your blood sugar levels. If you do test positive for gestational diabetes, you have a higher risk of developing diabetes within the following 10 years, and you should get the test again after the pregnancy.

Amniocentesis

During amniocentesis, amniotic fluid is removed from the uterus for testing. Amniotic fluid surrounds the baby during pregnancy. It contains fetal cells with the same genetic makeup as the baby, as well as various chemicals produced by the baby's body. There are several types of amniocentesis.

A genetic amniocentesis tests for genetic abnormalities, such as Down syndrome and spina bifida. A genetic amniocentesis is usually performed after week 15 of the pregnancy. It may be considered if:

a prenatal screening test showed abnormal results

you had a chromosomal abnormality during a previous pregnancy

you're 35 or older

you have a family history of a specific genetic disorder

you or your partner is a known carrier of a genetic disorder

Amaturity amniocentesis is performed later, during the third trimester, to determine whether or not your baby's lungs are ready for birth. This diagnostic test is only done if a planned early delivery through either induction of labor or a cesarean delivery is being considered for medical reasons. It's usually done between weeks 32 and 39.

Group B Strep Screening

Group B Streptococcus (GBS) is a type of bacteria that can cause serious infections in pregnant women and newborns. GBS is often found in the following areas in healthy women:

GBS in the vagina generally isn't harmful to a woman regardless of whether she's pregnant. However, it can be very harmful to a newborn baby who doesn't yet have a robust immune system. GBS can cause serious infections in babies exposed during birth. You can be screened for GBS with a swab taken from your vagina and rectum at 35-37 weeks.

If you test positive for GBS, you'll receive antibiotics while you're in labor to reduce your baby's risk of contracting a GBS infection.

Diagnostic tests are the next step after a screening test that yields a positive result. They leave virtually no doubt as to the existence or absence of certain birth defects.

Diagnostic tests are more invasive than screening tests. They're usually only done if there's a specific concern, if a screening test indicates a problem, or if your age, family history, or medical history suggests that you may have an increased risk for a problematic pregnancy. Diagnostic tests can carry a very small risk of miscarriage.

Prenatal screening tests can be an important source of information for many people. While many of these tests are routine, some can be a much more personal decision. Talk to your doctor about your concerns if you're not sure if you should be screened or if you're feeling anxious. You can also ask to be referred to a genetic counselor. Your healthcare team can discuss the risks and benefits with you and help you decide whether prenatal screening is right for you.

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Prenatal Screening Tests: Types, Diagnosis, and Takeaways

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Prenatal screening tests are a set of procedures that are performed during pregnancy on expectant mothers to determine whether a baby is likely to have specific birth defects. Most of these tests are noninvasive. They're usually performed during the first and second trimesters, although some are performed during the third.

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First Trimester of Pregnancy: A combo of ultra sounds and blood tests that are used to determine of the fetus is containing any birth diseases.

1. Ultrasound test for fetal nuchal translucency (NT)

2. Two maternal serum (blood) tests

Pregnancy-associated plasma protein screening (PAPP-A)

Human chorionic gonadotropin (hCG)

Second Trimester of Pregnancy: Several blood tests(multiple markers) taken to determine a pregnant woman's risk of having a baby with certain birth defects.

1.Alpha-fetoprotein screening (AFP) -Abnormal levels of AFP can result in: down syndrome, chromosomal abnormalities, twins, defects in the abdominal wall of the fetus, miscalculated due date

2. hCG -  hormone produced by the placenta

3. Estriol  -  hormone produced by the placenta

4. Inhibin  -  hormone produced by the placenta