Handbook of Abiogenetic Counseling Neural Tube Defects
18 June 06:10
Neural Tube Defects
(History of)
**95% of babies with NTDs are built-in to parents with no ancestors story of the disorder.
**The accident of a NTD in the citizenry is 1/200 - 1/1000 (This is 0.1% - 0.5%).
*When NTDs do arise to run in the family, it does not chase any accurate arrangement of inheritance.
*Women with assertive abiding bloom problems like diabetes and access disorders (treated with assertive anticonvulsant medications accept an added accident of accepting a babyish with a NTD. This accident is about 1/100 (MOD)
*If one affinity is affected, the ceremony accident is about 2-5% based on the citizenry accident (Harper).
*State the accident in both means (2% accident of aberancy = 98% adventitious of advantageous baby)
*Maternal Serum Screening, akin II ultrasound, & amniocentesis are three testing options that may acquaint you if your babyish is at an added accident for a NTD.
*What is it?
**A claret analysis that measures three altered substances in the mothers blood
***Alpha-fetoprotein (AFP)
***Human chorionic gonadotropin (hCG)
***Unconjugated estriol (uE3)
**It is commonly offered amid 14 and 22 weeks of pregnancy
***Most authentic if done amid 16-18 weeks
**It is NOT a analytic test; it is a screening test
**It is a way to analyze pregnancies at added accident of assertive abnormalities
***It is NOT an complete analysis of a problem
**Women who are apparent to be at a college accident are then offered analytic testing
***Level II Ultrasound
***Amniocentesis
*What can it acquaint me?
**Triple awning suggests an added accident for assertive abnormalities in the fetus such as ONTDs.
***It aswell can announce if theres an access accident for Down Affection or Trisomy 18
***We accept no causes to doubtable these may be an affair in the pregnancy, but the analysis will accommodate this information.
*What can it NOT acquaint me?
**Triple awning cannot affirm that your babyish has a NTD or additional defect
**It aswell cannot adumbrate an added accident for all bearing defects
***Other trisomies, brainy retardation, broken lip, etc. are not included in screen.
*What does the action involve?
**The screening analysis is done with a accepted affectionate claret draw.
*How do the markers work?
**Alpha-fetoprotein (AFP):
***This is the brand primarily acclimated to ascertain ONTDs
***It is a protein create by the fetal liver
***AFP is excreted into the fetal urine and amniotic aqueous from area it is transferred beyond the placenta into the affectionate blood.
***It is not accepted what AFP does
***It is present in college concentrations if there is an ONTD because added AFP leads out into the amniotic fluid
***It is present in lower concentrations with Down affection for alien reasons.
**Human chorionic gonadotropin (hCG):
***This is the abundance hormone acclimated in abundance tests
***Is it produced by the placenta
***The absorption is college in Down affection for alien reasons.
**Unconjugated estriol (uE3):
***UE3 is the alotof acute brand for Trisomy 18 (lower with Trisomy 18)
***It is a steroid produced by the fetus and placenta
***May be lower in Down affection for alien reasons.
**MoM (Multiple of the Median):
***This is the arrangement of the brand akin in the applicant to the average brand level
***It allows us to analyze your brand levels to the accepted citizenry of abundant women
***A computer program takes into annual all of your specific affairs and calculates your MoM
***1.0 MoM is the accepted value
***If 2.0 MoM, then your concentrations are alert as top as expected
***No one has a absolute 1.0 MoM
*What does a Awning Absolute analysis aftereffect mean?
**The analysis after-effects are analyzed for patterns
**There are specific patterns of the three brand levels associated with an ONTD, Down Syndrome, or Trisomy 18
***ONTD = Top AFP
***Down Affection = Low AFP, Top hCG, Low uE3
***Trisomy 18 = Low AFP, Low hCG, Low uE3
**5-10% of women who abide Amateur Awning get aberrant results
**Only 3-5% of them will accept an afflicted baby
**For ONTDs:
***Only the AFP brand is used
***If the absorption is >2.5 MoM, the aftereffect is awning absolute for ONTD
***The accident of ONTD is 1-2 in 1000 fetuses
**For Down syndrome:
***If the accident amount is over 1 in 270, the aftereffect is awning absolute for DS
***HCG is the alotof acute brand for DS
***The accident of DS is 1 in 660 newborns
**For Trisomy 18:
***If the accident amount is over 1 in 100, the aftereffect is awning absolute for TRI 18
***UE3 is the alotof acute brand for Trisomy 18
***The accident of Trisomy 18 is 3 in 1,000 newborns
*Why ability I accept a Awning Absolute result?
**The fetus has either an ONTD, DS, or Trisomy 18
**The fetus has a altered chromosome aberancy or bearing defect
**The aberration in the akin of the brand or markers is normal
**The gestational age is incorrect
***Underestimated in ONTDs (She is further than she thought)
***Overestimated in DS (She is not as far forth as she thought)
**There are assorted pregnancies (affects NTDs and DS results)
**Fetal annihilation (for NTD and Tri 18)
**Other causes of (+) for NTD:
***Abdominal bank defect
***Feto-maternal bleeding
***Finnish nephrosis (kidney disease)
**Other causes of (+) for Trisomy 18:
***X-linked icthyosis (scale-like derma due to steroid sulfatase deficiency)
*What does a Awning Abrogating analysis aftereffect mean?
**The abundance does not arise to be at an added accident for ONTD, DS, or TRI 18
**This does NOT agreement that the adolescent will not accept a bearing defect
*How Authentic is this test?
**The apprehension amount is a admeasurement of how acute the analysis is
***This is the adventitious of accepting a awning (+) if the fetus is infact affected
***There is a 60% all-embracing apprehension rate
***This agency that 60 out of 100 afflicted pregnancies will be begin by this test
**The false (+) amount is the adventitious of accepting a (+) if the abundance is unaffected
***There is a 5% all-embracing false (+) rate
***5 out of 100 artless pregnancies will awning (+)
***Of 100 women with accustomed babies, 5 will awning (+)
**More specifically:
***For ONTD:
****Detection amount is 85%
****False (+) amount is 1-3%
***For DS:
****Detection amount is 60-65%
****False (+) amount is 5%
****Higher apprehension amount and false (+) amount for women over age 35
***For Trisomy 18:
****Detection amount is 60-80%
****False (+) amount is ~0.5%
*How do I chase up on a Awning Absolute result?
**For NTD:
***Confirm gestational age with ultrasound
***Offer abiogenetic counseling, ultrasound, and amniocentesis (to admeasurement AFP)
***If AFP is <3.0 MoM and applicant is <22 weeks, may echo amateur screen
***If AFP is >3.0 MoM or applicant is >22 weeks, action akin II ultrasound and/or amniocentesis
**For Down Affection or Trisomy 18:
***Confirm gestational age with ultrasound
***Offer abiogenetic counseling, ultrasound, and amniocentesis
***DO NOT echo awning unless antecedent awning was done afore 14 weeks
**Unexplained awning (+) after-effects may be associated with an added accident for 3rd trimester complications
***These pregnancies should be monitored added closely
*At 18-20 weeks, a top resolution, targeted ultrasound assay can be done to anxiously and accurately appraise the babys spine.
*This is noninvasive and may accommodate advance but cannot be acclimated as a analytic tool.
**If no affirmation of a NTD is seen, it cannot be affirmed that the babyish does not accept a NTD.
*If the amateur awning after-effects announce an added accident for a NTD, one may accept to accept an amniocentesis, which is a added invasive, but added analytic test.
*What is it?
**Procedure acclimated to access a baby sample of aqueous from the fluid-filled sac that surrounds the fetus
**Performed at 15 weeks evolution or later
***15-18 weeks is optimal because it leaves the accommodating with options
***22 weeks is apparently the latest it can be done abrogation the advantage of constituent abortion
**Amniotic aqueous contains the fetuss urine as able-bodied as additional beef from the skin, throat, and digestive tract
**Fluid is advised in the lab for abnormalities
*What can it acquaint me?
**Amnio can ascertain assertive abnormalities in the fetus.
***Chromosome abnormalities
***NTDs (Spina Bifida)
**It can actuate the sex of the baby.
*What can it NOT acquaint me?
**Amnio cannot ascertain all bearing defects or brainy retardation.
***For example, complete affection defects, broken lip & aficionado cannot be seen.
***Also the severity of the birthmark cannot be accepted from amnio.
*Exactly what does the action involve?
**Show amount of amniocentesis.
**You will lie down on your aback with easily abaft your head.
**Your belly will be bankrupt with booze or iodine.
**A bounded analgesic may be activated to your stomach.
**Ultrasound will be acclimated to locate the position of the babyish and the placenta and to acquisition a safe atom for the needle.
**A long, attenuate aggravate will be amid through the skin, into the uterus.
**The first few ccs of aqueous will be alone because they apparently accommodate contagion from your cells.
**Then a baby bulk (about 1-2 tablespoons) of aqueous is removed and the aggravate is withdrawn.
**The action itself usually takes ~5 minutes.
**The babyish will bound alter the aqueous that is removed.
**The babys baby will be monitored by ultrasound.
**Fluid will be beatific to the lab and after-effects are accessible in 1-2 weeks.
**There is a baby achievability of lab absurdity or abridgement of corpuscle growth
***In this case, the action would accept to be done again.
*What will it feel like?
**If an analgesic is used, you may not feel the aggravate access the skin, but you will still feel it access the uterus.
**This is declared as a aciculate pain, like a menstrual ache that usually lasts a few seconds.
**You may aswell feel some airtight afterwards the procedure.
**You should abstain arduous action for 24 hours afterwards the procedure.
**Call your doctor anon if you acquaintance belly affliction or cramps, vaginal bleeding, arising of bright aqueous from the vagina, fever, or annihilation abroad unusual.
***Approximately 2% of women acquaintance ablaze bleeding or spotting.
*What are the risks?
**The accident of abortion is amid 1/400 and 1/200.
**This agency that the added accident for abundance accident attributable to the action is 0.5% or less.
**There is a accident of uterine infection but this is beneath than 1 in 1,000
**There is a limited adventitious that bearing defects can be acquired by the amnio (0.1%).
**There are appropriate considerations for mothers who are Rh negative. They charge to yield RhoGam afterwards the amnio procedure.
*Spina Bifida Affiliation of America
:www.sbaa.org
:1-800-621-3141
*March of Dimes advice on Spina Bifida, Amniocentesis, Folic Acid, and Affectionate claret screening
:www.modimes.org
:1-888-MODIMES
*If they are accepting a procedure, altercate how they would like to accept the results
**Appointment, buzz call, etc.
**Who will acquaintance them?
*Discuss the options: constituent abortion, adoption, etc.
*Harper, Peter. Applied Abiogenetic Counseling. Fourth Edition, p. 177-180.
*Foundation for Claret Research. Bounce 2000 Analysis Annual newsletter for providers.
*www.modimes.org
*www.sbaa.org
The advice in this outline was endure adapted in 2002.
(History of)
**95% of babies with NTDs are built-in to parents with no ancestors story of the disorder.
**The accident of a NTD in the citizenry is 1/200 - 1/1000 (This is 0.1% - 0.5%).
*When NTDs do arise to run in the family, it does not chase any accurate arrangement of inheritance.
*Women with assertive abiding bloom problems like diabetes and access disorders (treated with assertive anticonvulsant medications accept an added accident of accepting a babyish with a NTD. This accident is about 1/100 (MOD)
*If one affinity is affected, the ceremony accident is about 2-5% based on the citizenry accident (Harper).
*State the accident in both means (2% accident of aberancy = 98% adventitious of advantageous baby)
*Maternal Serum Screening, akin II ultrasound, & amniocentesis are three testing options that may acquaint you if your babyish is at an added accident for a NTD.
*What is it?
**A claret analysis that measures three altered substances in the mothers blood
***Alpha-fetoprotein (AFP)
***Human chorionic gonadotropin (hCG)
***Unconjugated estriol (uE3)
**It is commonly offered amid 14 and 22 weeks of pregnancy
***Most authentic if done amid 16-18 weeks
**It is NOT a analytic test; it is a screening test
**It is a way to analyze pregnancies at added accident of assertive abnormalities
***It is NOT an complete analysis of a problem
**Women who are apparent to be at a college accident are then offered analytic testing
***Level II Ultrasound
***Amniocentesis
*What can it acquaint me?
**Triple awning suggests an added accident for assertive abnormalities in the fetus such as ONTDs.
***It aswell can announce if theres an access accident for Down Affection or Trisomy 18
***We accept no causes to doubtable these may be an affair in the pregnancy, but the analysis will accommodate this information.
*What can it NOT acquaint me?
**Triple awning cannot affirm that your babyish has a NTD or additional defect
**It aswell cannot adumbrate an added accident for all bearing defects
***Other trisomies, brainy retardation, broken lip, etc. are not included in screen.
*What does the action involve?
**The screening analysis is done with a accepted affectionate claret draw.
*How do the markers work?
**Alpha-fetoprotein (AFP):
***This is the brand primarily acclimated to ascertain ONTDs
***It is a protein create by the fetal liver
***AFP is excreted into the fetal urine and amniotic aqueous from area it is transferred beyond the placenta into the affectionate blood.
***It is not accepted what AFP does
***It is present in college concentrations if there is an ONTD because added AFP leads out into the amniotic fluid
***It is present in lower concentrations with Down affection for alien reasons.
**Human chorionic gonadotropin (hCG):
***This is the abundance hormone acclimated in abundance tests
***Is it produced by the placenta
***The absorption is college in Down affection for alien reasons.
**Unconjugated estriol (uE3):
***UE3 is the alotof acute brand for Trisomy 18 (lower with Trisomy 18)
***It is a steroid produced by the fetus and placenta
***May be lower in Down affection for alien reasons.
**MoM (Multiple of the Median):
***This is the arrangement of the brand akin in the applicant to the average brand level
***It allows us to analyze your brand levels to the accepted citizenry of abundant women
***A computer program takes into annual all of your specific affairs and calculates your MoM
***1.0 MoM is the accepted value
***If 2.0 MoM, then your concentrations are alert as top as expected
***No one has a absolute 1.0 MoM
*What does a Awning Absolute analysis aftereffect mean?
**The analysis after-effects are analyzed for patterns
**There are specific patterns of the three brand levels associated with an ONTD, Down Syndrome, or Trisomy 18
***ONTD = Top AFP
***Down Affection = Low AFP, Top hCG, Low uE3
***Trisomy 18 = Low AFP, Low hCG, Low uE3
**5-10% of women who abide Amateur Awning get aberrant results
**Only 3-5% of them will accept an afflicted baby
**For ONTDs:
***Only the AFP brand is used
***If the absorption is >2.5 MoM, the aftereffect is awning absolute for ONTD
***The accident of ONTD is 1-2 in 1000 fetuses
**For Down syndrome:
***If the accident amount is over 1 in 270, the aftereffect is awning absolute for DS
***HCG is the alotof acute brand for DS
***The accident of DS is 1 in 660 newborns
**For Trisomy 18:
***If the accident amount is over 1 in 100, the aftereffect is awning absolute for TRI 18
***UE3 is the alotof acute brand for Trisomy 18
***The accident of Trisomy 18 is 3 in 1,000 newborns
*Why ability I accept a Awning Absolute result?
**The fetus has either an ONTD, DS, or Trisomy 18
**The fetus has a altered chromosome aberancy or bearing defect
**The aberration in the akin of the brand or markers is normal
**The gestational age is incorrect
***Underestimated in ONTDs (She is further than she thought)
***Overestimated in DS (She is not as far forth as she thought)
**There are assorted pregnancies (affects NTDs and DS results)
**Fetal annihilation (for NTD and Tri 18)
**Other causes of (+) for NTD:
***Abdominal bank defect
***Feto-maternal bleeding
***Finnish nephrosis (kidney disease)
**Other causes of (+) for Trisomy 18:
***X-linked icthyosis (scale-like derma due to steroid sulfatase deficiency)
*What does a Awning Abrogating analysis aftereffect mean?
**The abundance does not arise to be at an added accident for ONTD, DS, or TRI 18
**This does NOT agreement that the adolescent will not accept a bearing defect
*How Authentic is this test?
**The apprehension amount is a admeasurement of how acute the analysis is
***This is the adventitious of accepting a awning (+) if the fetus is infact affected
***There is a 60% all-embracing apprehension rate
***This agency that 60 out of 100 afflicted pregnancies will be begin by this test
**The false (+) amount is the adventitious of accepting a (+) if the abundance is unaffected
***There is a 5% all-embracing false (+) rate
***5 out of 100 artless pregnancies will awning (+)
***Of 100 women with accustomed babies, 5 will awning (+)
**More specifically:
***For ONTD:
****Detection amount is 85%
****False (+) amount is 1-3%
***For DS:
****Detection amount is 60-65%
****False (+) amount is 5%
****Higher apprehension amount and false (+) amount for women over age 35
***For Trisomy 18:
****Detection amount is 60-80%
****False (+) amount is ~0.5%
*How do I chase up on a Awning Absolute result?
**For NTD:
***Confirm gestational age with ultrasound
***Offer abiogenetic counseling, ultrasound, and amniocentesis (to admeasurement AFP)
***If AFP is <3.0 MoM and applicant is <22 weeks, may echo amateur screen
***If AFP is >3.0 MoM or applicant is >22 weeks, action akin II ultrasound and/or amniocentesis
**For Down Affection or Trisomy 18:
***Confirm gestational age with ultrasound
***Offer abiogenetic counseling, ultrasound, and amniocentesis
***DO NOT echo awning unless antecedent awning was done afore 14 weeks
**Unexplained awning (+) after-effects may be associated with an added accident for 3rd trimester complications
***These pregnancies should be monitored added closely
*At 18-20 weeks, a top resolution, targeted ultrasound assay can be done to anxiously and accurately appraise the babys spine.
*This is noninvasive and may accommodate advance but cannot be acclimated as a analytic tool.
**If no affirmation of a NTD is seen, it cannot be affirmed that the babyish does not accept a NTD.
*If the amateur awning after-effects announce an added accident for a NTD, one may accept to accept an amniocentesis, which is a added invasive, but added analytic test.
*What is it?
**Procedure acclimated to access a baby sample of aqueous from the fluid-filled sac that surrounds the fetus
**Performed at 15 weeks evolution or later
***15-18 weeks is optimal because it leaves the accommodating with options
***22 weeks is apparently the latest it can be done abrogation the advantage of constituent abortion
**Amniotic aqueous contains the fetuss urine as able-bodied as additional beef from the skin, throat, and digestive tract
**Fluid is advised in the lab for abnormalities
*What can it acquaint me?
**Amnio can ascertain assertive abnormalities in the fetus.
***Chromosome abnormalities
***NTDs (Spina Bifida)
**It can actuate the sex of the baby.
*What can it NOT acquaint me?
**Amnio cannot ascertain all bearing defects or brainy retardation.
***For example, complete affection defects, broken lip & aficionado cannot be seen.
***Also the severity of the birthmark cannot be accepted from amnio.
*Exactly what does the action involve?
**Show amount of amniocentesis.
**You will lie down on your aback with easily abaft your head.
**Your belly will be bankrupt with booze or iodine.
**A bounded analgesic may be activated to your stomach.
**Ultrasound will be acclimated to locate the position of the babyish and the placenta and to acquisition a safe atom for the needle.
**A long, attenuate aggravate will be amid through the skin, into the uterus.
**The first few ccs of aqueous will be alone because they apparently accommodate contagion from your cells.
**Then a baby bulk (about 1-2 tablespoons) of aqueous is removed and the aggravate is withdrawn.
**The action itself usually takes ~5 minutes.
**The babyish will bound alter the aqueous that is removed.
**The babys baby will be monitored by ultrasound.
**Fluid will be beatific to the lab and after-effects are accessible in 1-2 weeks.
**There is a baby achievability of lab absurdity or abridgement of corpuscle growth
***In this case, the action would accept to be done again.
*What will it feel like?
**If an analgesic is used, you may not feel the aggravate access the skin, but you will still feel it access the uterus.
**This is declared as a aciculate pain, like a menstrual ache that usually lasts a few seconds.
**You may aswell feel some airtight afterwards the procedure.
**You should abstain arduous action for 24 hours afterwards the procedure.
**Call your doctor anon if you acquaintance belly affliction or cramps, vaginal bleeding, arising of bright aqueous from the vagina, fever, or annihilation abroad unusual.
***Approximately 2% of women acquaintance ablaze bleeding or spotting.
*What are the risks?
**The accident of abortion is amid 1/400 and 1/200.
**This agency that the added accident for abundance accident attributable to the action is 0.5% or less.
**There is a accident of uterine infection but this is beneath than 1 in 1,000
**There is a limited adventitious that bearing defects can be acquired by the amnio (0.1%).
**There are appropriate considerations for mothers who are Rh negative. They charge to yield RhoGam afterwards the amnio procedure.
*Spina Bifida Affiliation of America
:www.sbaa.org
:1-800-621-3141
*March of Dimes advice on Spina Bifida, Amniocentesis, Folic Acid, and Affectionate claret screening
:www.modimes.org
:1-888-MODIMES
*If they are accepting a procedure, altercate how they would like to accept the results
**Appointment, buzz call, etc.
**Who will acquaintance them?
*Discuss the options: constituent abortion, adoption, etc.
*Harper, Peter. Applied Abiogenetic Counseling. Fourth Edition, p. 177-180.
*Foundation for Claret Research. Bounce 2000 Analysis Annual newsletter for providers.
*www.modimes.org
*www.sbaa.org
The advice in this outline was endure adapted in 2002.
|
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