Jump to content
Main menu
Main menu
move to sidebar
hide
Navigation
Main page
Recent changes
Random page
Help about MediaWiki
Special pages
Niidae Wiki
Search
Search
Appearance
Create account
Log in
Personal tools
Create account
Log in
Pages for logged out editors
learn more
Contributions
Talk
Editing
Cystic fibrosis
(section)
Page
Discussion
English
Read
Edit
View history
Tools
Tools
move to sidebar
hide
Actions
Read
Edit
View history
General
What links here
Related changes
Page information
Appearance
move to sidebar
hide
Warning:
You are not logged in. Your IP address will be publicly visible if you make any edits. If you
log in
or
create an account
, your edits will be attributed to your username, along with other benefits.
Anti-spam check. Do
not
fill this in!
===Prenatal=== Women who are [[pregnant]] or couples planning a pregnancy can have themselves tested for the ''CFTR'' gene mutations to determine the risk that their child will be born with CF. Testing is typically performed first on one or both parents and, if the risk of CF is high, testing on the fetus is performed. The [[American College of Obstetricians and Gynecologists]] recommends all people thinking of becoming pregnant be tested to see if they are a carrier.<ref name="American College of Obstetricians and Gynecologists-2017">{{cite web|url=https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2017/03/carrier-screening-in-the-age-of-genomic-medicine |number=690 |title=Carrier Screening in the Age of Genomic Medicine|date=2017|website=American College of Obstetricians and Gynecologists|url-status=live|archive-url=https://web.archive.org/web/20170225052721/http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Carrier-Screening-in-the-Age-of-Genomic-Medicine|archive-date=25 February 2017|access-date=22 February 2020}}</ref> Because the development of CF in the fetus requires each parent to pass on a mutated copy of the ''CFTR'' gene and because CF testing is expensive, testing is often performed initially on one parent. If testing shows that the parent is a ''CFTR'' gene mutation carrier, the other parent is tested to calculate the risk that their children will have CF. CF can result from more than a thousand different mutations.<ref name="Lancet2016">{{cite journal | vauthors = Elborn JS | title = Cystic fibrosis | journal = Lancet | volume = 388 | issue = 10059 | pages = 2519โ2531 | date = November 2016 | pmid = 27140670 | doi = 10.1016/S0140-6736(16)00576-6 | s2cid = 20948144 }}</ref> {{as of|2016}}, typically only the most common mutations are tested for, such as ฮF508.<ref name=Lancet2016/> Most commercially available tests look for 32 or fewer different mutations. If a family has a known uncommon mutation, specific screening for that mutation can be performed. Because not all known mutations are found on current tests, a negative screen does not guarantee that a child will not have CF.<ref name="pmid2014829">{{cite journal | vauthors = Elias S, Annas GJ, Simpson JL | title = Carrier screening for cystic fibrosis: implications for obstetric and gynecologic practice | journal = American Journal of Obstetrics and Gynecology | volume = 164 | issue = 4 | pages = 1077โ1083 | date = April 1991 | pmid = 2014829 | doi = 10.1016/0002-9378(91)90589-j }}</ref> During pregnancy, testing can be performed on the placenta ([[chorionic villus sampling]]) or the fluid around the fetus ([[amniocentesis]]). However, chorionic villus sampling has a risk of fetal death of one in 100 and amniocentesis of one in 200;<ref name="pmid2423826">{{cite journal | vauthors = Tabor A, Philip J, Madsen M, Bang J, Obel EB, Nรธrgaard-Pedersen B | title = Randomised controlled trial of genetic amniocentesis in 4606 low-risk women | journal = Lancet | volume = 1 | issue = 8493 | pages = 1287โ1293 | date = June 1986 | pmid = 2423826 | doi = 10.1016/S0140-6736(86)91218-3 | s2cid = 31237495 }}</ref> a recent study has indicated this may be much lower, about one in 1,600.<ref name="pmid17077226">{{cite journal | vauthors = Eddleman KA, Malone FD, Sullivan L, Dukes K, Berkowitz RL, Kharbutli Y, Porter TF, Luthy DA, Comstock CH, Saade GR, Klugman S, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, D'Alton ME | title = Pregnancy loss rates after midtrimester amniocentesis | journal = Obstetrics and Gynecology | volume = 108 | issue = 5 | pages = 1067โ1072 | date = November 2006 | pmid = 17077226 | doi = 10.1097/01.AOG.0000240135.13594.07 | s2cid = 19081825 }}</ref> Economically, for carrier couples of cystic fibrosis, when comparing [[preimplantation genetic diagnosis]] (PGD) with natural conception (NC) followed by prenatal testing and abortion of affected pregnancies, PGD provides net economic benefits up to a maternal age around 40 years, after which NC, prenatal testing, and abortion have a higher economic benefit.<ref name="pmid19439290">{{cite journal | vauthors = Davis LB, Champion SJ, Fair SO, Baker VL, Garber AM | title = A cost-benefit analysis of preimplantation genetic diagnosis for carrier couples of cystic fibrosis | journal = Fertility and Sterility | volume = 93 | issue = 6 | pages = 1793โ1804 | date = April 2010 | pmid = 19439290 | doi = 10.1016/j.fertnstert.2008.12.053 | doi-access = free }}</ref>
Summary:
Please note that all contributions to Niidae Wiki may be edited, altered, or removed by other contributors. If you do not want your writing to be edited mercilessly, then do not submit it here.
You are also promising us that you wrote this yourself, or copied it from a public domain or similar free resource (see
Encyclopedia:Copyrights
for details).
Do not submit copyrighted work without permission!
Cancel
Editing help
(opens in new window)
Search
Search
Editing
Cystic fibrosis
(section)
Add topic