Talk:Prenatal testing

Wiki Education Foundation-supported course assignment

This article was the subject of a Wiki Education Foundation-supported course assignment, between 22 August 2019 and 4 December 2019. Further details are available on the course page. Student editor(s): KClaudio. Peer reviewers: Samarthsbhatt, Ryleatrudeau, Holdenhansli.

Above undated message substituted from Template:Dashboard.wikiedu.org assignment by PrimeBOT (talk) 07:08, 17 January 2022 (UTC)

Personal Opinion

Article uses many loaded terms like "needlessly worry", etc. — Preceding unsigned comment added by 76.127.54.50 (talk) 05:20, 1 December 2016 (UTC)

Ethics

It seemed to me that the ethics issues are delicate. I changed the lanugage to be more neutral and non-judgmental.

Removed " or mental retardation" from section. The sentence was that women should have their child screened if their partner comes from an ethnic background prone to genetic disorders "or mental retardation". Sounds like something from the 50s to me.

Reply to anonymous. The problem you noticed was not obsolescence but rather that an encyclopedia like this should be descriptive, not prescriptive. It should describe what people do, it can describe what a certain authoritative organization advocates, it can describe the views of those who support or oppose certain actions, but it should not say "you should do x" or "a woman over 40 should do x" or anything similar. The other part of the problem is that nowhere in the introductory paragraphs is there a reason for prenatal diagnosis. There are three purposes of prenatal diagnosis: (1) to enable timely treatment of a condition before or after delivery, (2) to give the parents the chance to abort a fetus with the diagnosed condition, and (3) to give parents the chance "to prepare" for a baby with a problem (this last is emphasized in the article but in fact it is the first two reasons that have really driven policy and practices in this field and we should not be shy about acknowledging them. alteripse 00:12, 5 July 2006 (UTC)

prenatal diagnosis vs prenatal screening

This generally excellent article seems to be more about screening than diagnosis but it sort of covers both without explaining the distinction. This is my first look at this article and I dont know if it is currently "tended" by anyone. I am going to set up a redirect from prenatal screening, which is what I was looking for when I found this. Anybody want to keep them two distinct articles? Anybody object to renaming this article prenatal screening and making prenatal diagnosis the redirect? This is not my field of expertise or special interest. alteripse 00:12, 5 July 2006 (UTC)

Reply - I agree; it would be better for this article to be titled 'prenatal screening' and redirected from 'diagnosis'. Tynam 13:52, 29 January 2007 (UTC)

I would disagree. Prenatal screening tests look for markers that may show a fetus at higher risk of an abnormality, such as less invasive blood tests looking for markers like AFP, inhibin, etc, but this does not guarantee the fetus actually has an abnormality. Prenatal diagnostic testing is the test that actually confirms or denies an abnormality. These are the tests like amniocentesis which may be more invasive. I think this can be kept as a single page, but this distinction needs to be made very clear since it can be confusing for patients to determine what screening vs diagnostic testing means for their fetus. Sohinihalder (talk) 18:25, 12 September 2022 (UTC)

Non-invasive techniques

• This article seems strong on invasive and ultrasound diagnostic techniques but says little about the (increasingly common) use of non-invasive protein and hormone measurements for preliminary screening. This is related to the rather vague distinction this article makes between screening and diagnosis. Compare to the 'prenatal screening' section under Down syndrome or in individual marker articles such as Alpha-fetoprotein. Do we need separate sections on non-invasive and invasive tests? Tynam 13:59, 29 January 2007 (UTC)

• The article presents "invasive = diagnosis, non-invasive = screening", which is false. Non-invasive ultrasound scanning can be used to correctly diagnose many problems (eg, bulky tumors, spina bifida, anencephaly, missing limbs). Invasive amniocentesis sampling can be used to screen for but not diagnose some problems (eg, open abdominal wall, spina bifida). Una Smith 03:21, 14 June 2007 (UTC)

Merge here?

Fetal screening is a stub. Merge it here? --Una Smith (talk) 00:23, 1 January 2008 (UTC)

Screening versus diagnosis

Currently the article does not adequately explain the differences and relationships between screening and diagnostic tests. --Una Smith (talk) 17:01, 2 January 2008 (UTC)

Seems like the article might be better titled Prenatal testing, which would encompass both diagnostic and screening tests. But it does seem like several places diagnosis is used in the article when screening would be better term, (probably because the article started with that title, rather than because it is the right term). Zodon (talk) 09:17, 21 September 2008 (UTC)

Sex and gender

The article links to sex but in that context it really means gender. Follow both of these links and judge for yourself. Spotfixer (talk) 00:32, 17 December 2008 (UTC)

The determination is typically done by genetic testing or observation of physical characteristics, which gives an estimate of the sex of the fetus/embryo. (See for instance sex#genetic). According to the wikipedia article, gender refers primarily to sociology or grammar. (I haven't heard of prenatal test to determine gender, (e.g. identify those "whose gender identity feels incongruent with their biological sex" etc.)) Zodon (talk) 00:56, 17 December 2008 (UTC)

April 2009 new sections and US-centric legal commentary

New user with connection to fetal genetic testing from maternal blood (commendably disclosed) added a lot of new information and sections. They need though some further work to integrate better into the article, prevent duplication of some details, and also consider some US-centric legal aspects.

• IMHO a new test will need to await its commercial release before inclusion in wikipedia article
• Will need sources other than just those of the company to provide the idealised secondary sources that WP:MEDRS aspires to.
• Some of specificity and sensitivity details of new 'Typical screening sequence' section duplicates that of existing 'False positives and false negatives' section - I'm not sure which way to proceed to copyedit this - thoughts please :-)
• 'Informed consent and medical malpractice' section needs work:
  1. Firstly that off-topic here to spend too long discussing what are basic issues for all testing and medical procedure consenting issues - better for perhaps just short section with link to main article of informed consent
  2. Currently reads as somewhat of instruction manual for a patient rights (i.e. WP:NOTGUIDE applies) (and investor of a new test not best person IMHO to add such direction re potential for perception of COI - but I fully accept new editor had best of motives and at least some consideration of this diffcult ethical area needs mentioning)
  3. US-centric in suggesting that women have right to be informed of all possible tests and choose which ones they will have. In UK there are clear screening guidelines and NHS service commitments, but outside of that a women without specific risk-factors has no inaliable "right" to additonal tests nor therefore expectation to be counselled on them (hence whilst poor practice not to offer testing to those over 35, no NHS access for Nuchal Thickness scans for those under 35 and so no requirement to consent on this topic - yet plenty of other aspects that would still need be covered such as our routine UK morphology scans at 18-21 weeks that provides a layer of universal screening).

Anyway link to discussion thread on my talk page is here, but further discussion is probably better undertaken below :-) David Ruben ^Talk 21:24, 20 April 2009 (UTC)

amniocentesis risk dramatically overstated

See Wikipedia entry on amniocentesis for more accurate information about the risks of amnio. The 1 in 200 miscarriage rate from amnio is a very old statistic and may never have been accurate for an experienced practitioner--certainly that's a dramatic overestimate given the way things are done nowadays (although there is probably significant variation among doctors and facilities). It's outrageous that it's taken so long to start updating the information people are given in deciding whether to have an amnio.

Anyhow, the risk estimate should be updated here. See http://www.marchofdimes.com/printableArticles/14332_1164.asp#head5, for example. —Preceding unsigned comment added by Katydid99 (talk • contribs) 21:12, 31 January 2010 (UTC)

Societal Pressures on testing

I realize this page is in start-up mode, but this section really shouldn't stand as-is with a note that it applies to the U.S.

Some states go by a Reasonable Doctor standard and some states go by a Reasonable Patient standard. The tie-in to informed consent is messy. — Preceding unsigned comment added by 24.18.107.31 (talk) 07:01, 23 August 2011 (UTC)

Flash in the pan

Lots of diagnostic tests come on the market with varying fanfare. Many fall into disuse because of a variety of reasons. Promising new tests that promise to change the way medicine is practiced usually fail to live up to the hype. WP:MEDRS prefers reviews (secondary sources) to singular studies (primary sources) for this reason. A test for a single entity may have no appreciable impact on the practice of prenatal diagnostics. When it does, as evidenced in the form of reviews and recommendations by relevant bodies, then we add new information. Per WP:SPECULATION, we write about what is done, not what might be done.Novangelis (talk) 14:43, 24 October 2011 (UTC)

Response: I'm not sure where to begin a more productive discussion on the subject of advances in prenatal testing. I have made an effort to provide information that is directly backed by a peer-reviewed publication from a well respected group at Brown University in a well regarded medical journal. In the case where I modified the math case study, increasing the denominator from 4000 screened women to 400,000 screened women, it was purely because the using a small number fails to illustrate the shortcomings of a prenatal test like MaterniT21 that does have a 0.9% false-negative rate and a 0.1% false-positive rate. If I kept it at 4000, then it would have made it look like using MaterniT21 in high-risk women resulted in perfect results. This is the opposite of hype... this is my effort to short exactly how the test works and doesn't work.

I've also devoted some effort to explaining why there is a drive in the OBGYN field to use more accurate tests... particularly that false-positives result in many unnecessary invasive tests which carry a known risk of miscarriage. This is not speculation. This is intrinsic to how patients and physicians and the experts who write the ACOG guidelines thinks about which test to use. The references I provided back all this up.

This is an area that I have monitored for many years, attended conferences, advised several companies, and invested in several companies. I do indeed what to see MaterniT21 used - because the alternatives are substantially worse. Why would anyone want to subject their baby to a 0.5-1% risk of miscarriage to find out if the baby has Down Syndrome when there is now a non-invasive blood test available? Cost is certainly an issue, though I have stayed away from that because it is such a moving target (the test will be free to some, cost $235 to others, and will cost $1900 for yet others... but as insurance plans pick up coverage, the distribution of cost will change and eventually it will be free or have a low co-pay for most patients).

Why would you want to treat this test like it's some kind of crazy experiment that should be kept in the shadows? Wikipedia has tons of references to all sort of speculative tests, such as non-invasive tests based on fetal cells, that have failed for 20 years and remain science projects. But when a CLIA-certified test is actually brought to market and made available to women and characterized in a large study by the same people at Brown University who validated the last major advance in prenatal screening (the Prenatal Integrated Screen... which is a combination of NT ultrasound with 1st trimester blood markers and 2nd trimester Quad test), the news is treated like it's speculative garbage.

Who do you think is going to update Wikipedia with this information? Someone who doesn't care? Of course it's going to be with someone who cares enough to bother to sit down and write all this out and subject themselves to having all their revisions undone repeatedly by people who are suspicious that everyone else is a sales rep posting lies to sell snake oil. How is anyone supposed to get through that filter when you throw the babies out with the bathwater?

So please don't just UNDO everything I've written. Go into each section and point out what it is that you think is "speculative".

(talk) —Preceding undated comment added 18:17, 24 October 2011 (UTC).

The reply, is speculation: "as insurance plans pick up coverage, the distribution of cost will change". Wikipedia is not interested in your Crystal ball. Wikipedia uses reviews by reliable sources—per policy. Yes, ACOG relies on primary studies when it reviews tests. Wikipedia relies upon those reviews which are yet to exist. We don't know what ACOG will recommend. This makes it all speculative. CLIA-certified tests have come to market and foundered. It could turn out that a competing test using the same method or tests using other same method will work better and get the recommendation.[1] We'll see what the new model is when there is a new model.Novangelis (talk) 22:14, 24 October 2011 (UTC)

---

That's fine, I can remove that line about insurance coverage, though it's not exactly speculation considering that the definition of insurance covering a test is that they pick up more of the bill. Please take a look at this update to ISPD recommendations on prenatal screening. This is a medical society that advises on best practices. http://ispdhome.org/public/news/2011/ISPD_RapidResponse_MPS_24Oct11.pdf

Putting information on Wikidedia about MaterniT21 is no more about selling that test than having information about the Quad test or Ultrasound or Amniocentesis is trying to sell those tests/procedures. Please also appreciate that every single test available for prenatal screening/testing is currently CLIA certified. In fact, the vast majority of diagnostics are CLIA certified and not FDA approved. 90% of the business would vanish if you only focused on FDA approved tests. Furthermore, it is not important whether another test will come to market and displace MaterniT21; if you have a crystal ball, that's fine, but currently the only test of its kind that does exist is MaterniT21 and so it merits being discussed. But if you are interested, Verinata is at least months away from launching their test and Tandem is under the radar but still has to complete large studies. Sequenom has the leading patents in the field, possibly with some overlap with Verinata, but those two companies would have a strong case to make in court to exclude others from the market in the US and other parts of the world (unless they too a license) and so, whatever may happen, Sequenom and Verinata are in the strongest position to be dominant and betting on others would be increasingly speculative.

Why are you so determined to remove reference to a test that safely gives women a more accurate determination of their Down Syndrome risk? If I rewrite what I put up there originally and stripped out any predictions such as the comment about insurance, would this be acceptable to you?

Ne1ofmany (talk) 13:35, 25 October 2011 (UTC)Ne1ofmany

Use third-party (people who have not been involved with the company), secondary (review) sources per WP:MEDRS.Novangelis (talk) 14:07, 25 October 2011 (UTC)

And the IPSD report did qualify. I took the liberty of adding their conclusions which are far more sober than a company brochure.Novangelis (talk) 17:08, 25 October 2011 (UTC)

-- Ok, baby steps for me. I made a few edits and provided a summary of the basis of each edit. I stayed conservative. I'll check back in a little while and see if you have objections.

I would still like to expand the math example where the article discussed 4000 women being screened. I wrote that piece a couple of years ago because I felt that it would help people understand how sensitivity and specificity more tangible. By simply multiplying all those values by a factor of 100, it will make it easier to introduce into this example other tests as they emerge that have accuracies so high that you just can't see their flaws until you go to numbers like 400,000 screened women. I would be misleading to talk about 4000 women being screened with MaterniT21 and saying that the test would catch all 10 of the Down Syndrome cases simply because 99.1% of 10 is 9.91 and therefore rounds up to 10. But if we multiplied by a factor of 100, then you could see that the test would miss 9 Down Syndrome pregnancies out of 1000 that one would expect in a population of 400,000 women. In the spirit of being balanced, I think you would agree that showing the limitations of MaterniT21 and tests like it is informative and desirable.

So lets hash out your thoughts on this modification before I spend any time on modifying that section.

Ne1ofmany (talk) 21:37, 26 October 2011 (UTC)Ne1ofmany

Numerous core policies were breached.

Pillar: WP:Neutrality;

WP:Verifiability — statements do not match sources;

WP:MEDRS — excessive use of primary sources;

WP:UNDUE — excessive emphasis of a just-released test with no clear impact on practice (WP:SPECULATION); excessive emphasis on the availability of one test where others are likely to be released (WP:RECENTISM);

WP:PROMOTION (WP:REFSPAM).

Underlying this is WP:Conflict of interest: "Accounts that appear, based on their editing history, to be single-purpose accounts that exist for the sole or primary purpose of promotion (e.g., of a person, company, product, service, website, or organization), in apparent violation of this guideline, should be warned and made aware of this guideline. If the same pattern of editing continues after the warning, the account may be blocked." Novangelis (talk) 02:16, 28 October 2011 (UTC)

--- your behavior is appalling. You clearly do not understand the topic, as evidenced by your flawed summary of the ISPD document. You criticize what I wrote because of excessive use of primary sources? Would a tabloid be more credible? And then you object that I write about the one test that has been validated and allowed to come to market and recognized by an international body of experts (ISPD), but you saw I'm unfairly focusing on this test one test to the exclusions of others that will come later... aren't you being speculative giving others so much credit? Just look at the stuff you overlooked on this page? If you applied your rules, you would delete half the comments. Who nominated you the arbiter of everything that goes on this page?

Fine - I'm done with this - let someone else play this spiteful tug of war with you. Or maybe for the sake of all the people who come to read this page, you'll do more homework and drop your attitude.

I'm sure there is someone else out there, OB/GYN or someone who also agrees that the introduction of a more accurate Down syndrome blood test is the most significant improvement in the field of prenatal diagnosis to happen in the last 10 years and therefore deserves to be explained in detail on this Wikipedia page. Hopefully you won't make their experience feel like conversing with a wall.

166.137.136.25 (talk) 17:52, 28 October 2011 (UTC)Ne1ofmany

External links modified

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possible source

See

• Nuffield Council on Bioethics (March 2017). Non-invasive prenatal testing: ethical issues (PDF). Nuffield Council on Bioethics. ISBN 978-1-904384-32-8.

-- Jytdog (talk) 23:23, 2 April 2017 (UTC)

US country bias

The last section, after discussing general ptoperties of tests and some probably globally similar pregnancy checkups, all of a sudden reads "Performing tests to determine possible birth defects is mandatory in all states." Most probably this should have meant "US states", and not "states" as "countries". Not knowing what all more in the article is US only, and not being able to find the correct country bias or POV template that I could feel safe placing in the article text, I make at least this note here, hoping that someone will pick it up and act upon it. Thank you in advance! --Blahma (talk) 01:07, 12 December 2017 (UTC)

I made the edit for you. You should not be discouraged from making this kind of edit in the future. Deleet (talk) 03:00, 12 December 2017 (UTC)

Queen's University Student Editing Initiative

Hello, we are a group of medical students from Queen's University (Kingston). We are working to improve this article over the next month as part of a course project and will be posting our planned changes on this talk page. We look forward to working with the existing Wikipedia medical editing community to improve this article and share evidence. We welcome feedback and suggestions as we learn to edit. Thank you. Emaadmd (talk) 18:12, 1 October 2018 (UTC)

Hello, as part of our class assignment we have compiled a list of suggestions to improve this article and would appreciate community feedback before we proceed with these edits. Here is a list of our suggestions:

1. Add the following content into the end of the second trimester section and beginning of third trimester section: https://en.wikipedia.org/wiki/User:Skhan213/sandbox
2. Add the following content to the third trimester section: https://en.wikipedia.org/wiki/User:Florianfortescue2/sandbox
3. We propose to create a new sub section in the article entitled “Genetic counselling”, placed after the “Screening for aneuploidy”, section and before the “Ethical and practical issues” section. A proposed example of how the section may read is as follows: https://en.wikipedia.org/wiki/User:Emaadmd/sandbox
4. We propose to add this to the new section of Genetic Counseling: https://en.wikipedia.org/wiki/User:Sj2022/sandbox?fbclid=IwAR3ERRtoWDOtW-EUc4Djqj36rFbcdjaKpnlEpeeuHR5AXN7NQdeGvHSMqc8
5. We propose to add the following content to the third trimester section. The proposed paragraphs and references can be found in the following sandbox: https://en.wikipedia.org/wiki/User:ShyanQmed/sandbox
6. We propose to create a new content section called: “Management following prenatal testing”. The proposed paragraphs and references can be found in the following sandbox: https://en.wikipedia.org/wiki/User:Unleash_edits_Elina/sandbox#Management_following_prenatal_testing

We appreciate your time and welcome any feedback you may have, thank you. Emaadmd (talk) 00:11, 9 November 2018 (UTC)

Thanks for sharing these proposed article improvements. I have gone through these sandboxes and left comments. We appreciate all the work you have done to help share more high quality knowledge about Prenatal Testing on Wikipedia! JenOttawa (talk) 02:20, 9 November 2018 (UTC)

Ethics of prenatal testing

Hello, I tried to clean up this new section, however, after re-reading the section, I feel that it needs quite a bit more work before it should be added to article. I reverted my revisions and also the addition of the following paragraph. You can see my reverted edits here for ideas on how to improve this and make it read more like an encyclopedia. Link to my revisions (which I reversed).

Content added by @KClaudio:: These paragraphs ARE of my authorship:

• A meta-analysis that investigated the success rate of using fetal cell-free DNA from maternal blood to screen for aneuploidies found that this technique detected trisomy 13 in 99% of the cases, trisomy 18 in 98% of the cases and trisomy 21 in 99% of the cases [30][31]. Failed tests using fetal cell-free DNA are more likely to occur in fetuses with trisomy 13 and trisomy 18 but not with trisomy 21 [32]. Previous studies found elevated levels of cell-free fetal DNA for trisomy 13 and 21 from maternal serum when compared to women with euploid pregnancies [33] [34][35][36]. However, an elevation of cell-free DNA for trisomy 18 was not observed [33].

• Another important issue to address is the uncertainty of prenatal genetic testing. Uncertainty on genetic testing results from several reasons: the genetic test is associated with a disease but the prognosis and/or probability is unknown, the genetic test provides information different than the familiar disease they tested for, found genetic variants have unknown significance, and finally, results may not be associated with found fetal abnormalities. Richardson and Ormond thoroughly address the issue of uncertainty of genetic testing and explained its implication for bioethics. First, the principle of beneficence is assumed in prenatal testing by decreasing the risk of miscarriage, however, uncertain information derived from genetic testing may harm the parents by provoking anxiety and leading to the termination of a fetus that is probably healthy. Second, the principle of autonomy is undermined given a lack of comprehension resulting from new technologies and changing knowledge in the field of genetics. And third, the principle of justice raised issues regarding equal access to emerging prenatal tests.

@JenOttawa: This is NOT of my authorship, neither the rest of the article.

• Parents need to make informed decisions about screening, diagnosis, and any actions to be taken as a result. Many screening tests are inaccurate, so one worrisome test result frequently leads to additional, more invasive tests. If prenatal testing confirms a serious disability, many parents are forced to decide whether to continue the pregnancy or seek an abortion. The "option" of screening becomes an unexpected requirement to decide (see wrongful abortion).

I now notice that this is a student initiative. It is great to see students here improving articles! @KClaudio: please speak with your instructor and make some tweaks to this content before uploading it to the site.

@JenOttawa: adding to the original article was part of the assignments.

JenOttawa (talk) 18:00, 14 November 2019 (UTC)

References

Move discussion in progress

There is a move discussion in progress on Talk:Non invasive prenatal testing which affects this page. Please participate on that page and not in this talk page section. Thank you. —RMCD bot 00:21, 29 April 2022 (UTC)

Wiki Education assignment: UCSF SOM Inquiry In Action-- Wikipedia Editing 2022

This article was the subject of a Wiki Education Foundation-supported course assignment, between 8 August 2022 and 20 September 2022. Further details are available on the course page. Student editor(s): LuciaRWest, Hcmiles (article contribs). Peer reviewers: Rafpez, Sohinihalder.

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Wiki Education assignment: Molecular Genetics

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