Zespół edwardsa (trisomia 18) – Zapobieganie i profilaktyka

Zespół edwardsa (trisomia 18)
Zapobieganie i profilaktyka

Zespół Edwardsa (trisomia 18) jest genetycznym zaburzeniem spowodowanym obecnością dodatkowego chromosomu 18, najczęściej wynikającym ze spontanicznej mutacji. Głównym czynnikiem ryzyka jest zaawansowany wiek matki, zwłaszcza powyżej 35. roku życia, a także potencjalnie wiek ojca. Diagnostyka prenatalna obejmuje testy przesiewowe, takie jak test złożony (10.-14. tydzień ciąży), test poczwórny oraz nieinwazyjne badanie prenatalne (NIPT) przy ryzyku ≥ 1:150, a także szczegółowe USG około 20. tygodnia. Po uzyskaniu wyniku wskazującego na podwyższone ryzyko zalecane są badania diagnostyczne: amniocenteza lub biopsja kosmówki (CVS) w celu potwierdzenia trisomii 18. Poradnictwo genetyczne jest rekomendowane dla par z obciążonym wywiadem lub planujących kolejne ciąże.

Profilaktyka i zapobieganie zespołowi Edwardsa (trisomii 18)

Czynniki ryzyka

Badania prenatalne w kierunku zespołu Edwardsa

Badania przesiewowe
Badania diagnostyczne

Poradnictwo genetyczne
Preimplantacyjne badania genetyczne
Podejmowanie decyzji po diagnozie prenatalnej
Zalecenia dla personelu medycznego i rodziców

Kolejne rozdziały

Profilaktyka i zapobieganie zespołowi Edwardsa (trisomii 18)

Zespół Edwardsa (trisomia 18) jest zaburzeniem genetycznym wynikającym z obecności dodatkowego chromosomu 18. Schorzenie to powstaje w wyniku spontanicznej mutacji genetycznej, której nie można zapobiec przy pomocy obecnie dostępnych metod medycznych.¹²³ Warto podkreślić, że występowanie zespołu Edwardsa nie jest związane z działaniami lub zaniechaniami rodziców i zwykle nie występuje rodzinnie.⁴

Czynniki ryzyka

Najważniejszym czynnikiem ryzyka wystąpienia trisomii 18 jest zaawansowany wiek matki. Kobiety w późnych latach 30. i 40. mają statystycznie wyższe ryzyko urodzenia dziecka z trisomią 18.⁵ W niektórych źródłach wskazuje się również na zaawansowany wiek ojca jako potencjalny czynnik ryzyka.⁶ Ważne jest, aby pamiętać, że większość przypadków zespołu Edwardsa nie jest dziedziczna, a wystąpienie dodatkowego chromosomu najczęściej następuje spontanicznie podczas zapłodnienia z przyczyn, które pozostają nieznane.⁷⁸

Badania prenatalne w kierunku zespołu Edwardsa

Chociaż nie można zapobiec samemu zespołowi Edwardsa, dostępne są różne metody badań prenatalnych, które umożliwiają wykrycie tej wady genetycznej w trakcie ciąży.⁹¹⁰ Amerykańskie Kolegium Położników i Ginekologów (ACOG) zaleca, aby wszystkim ciężarnym kobietom proponować badania przesiewowe w kierunku aberracji chromosomowych, w tym trisomii 18.¹¹¹²

Badania przesiewowe

W ramach standardowej opieki prenatalnej oferowane są różne badania przesiewowe, które mogą wskazać na podwyższone ryzyko zespołu Edwardsa:¹³

Test złożony (combined test) – oferowany wszystkim kobietom ciężarnym w pierwszym trymestrze, między 10. a 14. tygodniem ciąży. Test ten łączy wyniki badań biochemicznych z oceną przezierności karkowej (NT) w badaniu USG.¹⁴
Test poczwórny (quadruple test) – proponowany, gdy kobieta zgłasza się zbyt późno na test złożony lub gdy nie można uzyskać pomiaru przezierności karkowej.¹⁵
Nieinwazyjne badanie prenatalne (NIPT) – badanie krwi oferowane rodzicom, gdy wynik testu złożonego lub poczwórnego wskazuje na podwyższone ryzyko (≥ 1:150).¹⁶
Szczegółowe badanie USG – wykonywane około 20. tygodnia ciąży, może również wskazać na możliwość występowania trisomii 18, zwłaszcza gdy nie było możliwości przeprowadzenia wcześniejszych testów przesiewowych.¹⁷

Badania diagnostyczne

Po uzyskaniu pozytywnego wyniku badania przesiewowego zaleca się przeprowadzenie badań diagnostycznych w celu potwierdzenia diagnozy, ze względu na możliwość wyników fałszywie dodatnich.¹⁸ Do badań diagnostycznych należą:

Amniocenteza – badanie płynu owodniowego w celu analizy chromosomów płodu.¹⁹²⁰
Biopsja kosmówki (CVS) – pobranie i analiza próbki tkanki łożyska.²¹²²

Poradnictwo genetyczne

Poradnictwo genetyczne jest rekomendowane w następujących przypadkach:²³

Dla rodziców, którzy już mieli dziecko z zespołem Edwardsa i planują kolejne ciąże.²⁴²⁵
Dla par z obciążonym wywiadem rodzinnym w kierunku trisomii 18.²⁶
Dla kobiet planujących ciążę, szczególnie w zaawansowanym wieku.²⁷²⁸

Konsultacja z genetykiem klinicznym pomaga w zrozumieniu ryzyka i dostępnych opcji, w tym możliwości przeprowadzenia badań prenatalnych w kolejnych ciążach.²⁹

Preimplantacyjne badania genetyczne

Dla par z grupy podwyższonego ryzyka istnieje możliwość znacznego zmniejszenia prawdopodobieństwa urodzenia dziecka z zespołem Edwardsa poprzez połączenie diagnostyki genetycznej z technikami wspomaganego rozrodu.³⁰³¹

Preimplantacyjne badanie genetyczne (PGT) w połączeniu z zapłodnieniem in vitro (IVF) pozwala na badanie embrionów przed ich implantacją do macicy. Do transferu wybierane są wyłącznie zarodki bez wykrytych nieprawidłowości genetycznych, co znacząco zmniejsza ryzyko urodzenia dziecka z trisomią 18.³²³³

Podejmowanie decyzji po diagnozie prenatalnej

W przypadku prenatalnej diagnozy zespołu Edwardsa rodzice stają przed trudnymi decyzjami. W wielu przypadkach, po potwierdzeniu diagnozy, niektóre pary decydują się na selektywne zakończenie ciąży.³⁴³⁵

W przypadku kontynuacji ciąży, rodzice muszą podjąć decyzje dotyczące zakresu opieki medycznej dla dziecka po urodzeniu. Ze względu na brak specyficznego leczenia przyczynowego zespołu Edwardsa, decyzje te często dotyczą wyboru między opieką paliatywną, skupiającą się na zapewnieniu komfortu i poprawie jakości życia, a bardziej intensywnymi metodami leczenia czy zabiegami chirurgicznymi, które mogą przedłużyć życie dziecka.³⁶

Zalecenia dla personelu medycznego i rodziców

Aktualne rekomendacje dotyczące profilaktyki i zapobiegania zespołowi Edwardsa obejmują:³⁷³⁸

Oferowanie badań przesiewowych w kierunku aberracji chromosomowych wszystkim kobietom ciężarnym, zgodnie z zaleceniami towarzystw naukowych.³⁹⁴⁰
Szczególne zalecenie badań przesiewowych dla kobiet powyżej 35. roku życia, ze względu na podwyższone ryzyko wystąpienia trisomii.⁴¹
Zapewnienie pełnej informacji o dostępnych badaniach prenatalnych, aby umożliwić świadomy wybór.⁴²
Kierowanie na poradnictwo genetyczne w przypadku dodatniego wywiadu rodzinnego lub wcześniejszej ciąży z trisomią 18.⁴³⁴⁴
Oferowanie badań diagnostycznych (amniocenteza, CVS) po uzyskaniu pozytywnego wyniku badania przesiewowego.⁴⁵

Należy podkreślić, że mimo braku metod zapobiegania samemu zespołowi Edwardsa, wczesna diagnostyka prenatalna może umożliwić rodzicom przygotowanie się na różne scenariusze i podjęcie świadomych decyzji dotyczących dalszego postępowania.⁴⁶⁴⁷

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Materiały źródłowe

#1 Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook
https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome
Edwards syndrome (trisomy 18) is the result of a genetic mutation and theres no way to prevent the condition. […] However, if you qualify for a combination of genetic testing and in vitro fertilization (preimplantation genetic testing), you can significantly reduce the chance of having a child with Edwards syndrome (trisomy 18). […] If you plan on becoming pregnant and want to understand your risk of having a child with a genetic condition, talk with your healthcare provider about genetic testing.
#2 Edwards syndrome – symptoms, treatments and causes | healthdirect
https://www.healthdirect.gov.au/edwards-syndrome-trisomy-18
Edwards syndrome is a genetic disease, so can’t be prevented. […] The condition does not usually run in families. It’s not caused by anything you have done.
#3 What makes Edwards Syndrome a rare genetic disorder | Apollo Hospitals
https://www.apollohospitals.com/diseases-and-conditions/what-makes-edwards-syndrome-a-rare-genetic-disorder
Most types of Edwards syndrome cases are not hereditary. So, they cannot be prevented. To date, there is no scientific evidence as to what a parent could have done to cause or prevent trisomy 18 in their baby. So, this is a chromosomal error that is considered to be random. However, technological advancements like prenatal screening kits, genetic testing for pregnant women or testing cells from the amniotic fluid i.e. amniocentesis help to analyze the chromosomes. This can result in the early detection of the disease.
#4 Edwards syndrome – symptoms, treatments and causes | healthdirect
https://www.healthdirect.gov.au/edwards-syndrome-trisomy-18
Edwards syndrome is a genetic disease, so can’t be prevented. […] The condition does not usually run in families. It’s not caused by anything you have done.
#5 Trisomy disorders | Better Health Channel
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/trisomy-disorders
The addition of an extra chromosome usually occurs spontaneously during conception. The cause of this is unknown and prevention is not possible. […] The most important risk factor for trisomy conditions is maternal age. Women in their late 30s and 40s have a higher chance of trisomy conditions occurring.
#6 Edwards syndrome | EBSCO Research Starters
https://www.ebsco.com/research-starters/health-and-medicine/edwards-syndrome
There is no known prevention for the syndrome, and risk factors include advanced maternal and paternal age. […] Currently, there are no known preventive strategies. The spontaneous prenatal death rate is high. With prenatal diagnosis, elective termination of the pregnancy is often performed.
#7 Trisomy disorders | Better Health Channel
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/trisomy-disorders
The addition of an extra chromosome usually occurs spontaneously during conception. The cause of this is unknown and prevention is not possible. […] The most important risk factor for trisomy conditions is maternal age. Women in their late 30s and 40s have a higher chance of trisomy conditions occurring.
#8 What makes Edwards Syndrome a rare genetic disorder | Apollo Hospitals
https://www.apollohospitals.com/diseases-and-conditions/what-makes-edwards-syndrome-a-rare-genetic-disorder
Most types of Edwards syndrome cases are not hereditary. So, they cannot be prevented. To date, there is no scientific evidence as to what a parent could have done to cause or prevent trisomy 18 in their baby. So, this is a chromosomal error that is considered to be random. However, technological advancements like prenatal screening kits, genetic testing for pregnant women or testing cells from the amniotic fluid i.e. amniocentesis help to analyze the chromosomes. This can result in the early detection of the disease.
#9 FloridaHealthFinder | Trisomy 18 | Health Encyclopedia | FloridaHealthFinder
https://quality.healthfinder.fl.gov/health-encyclopedia/HIE/1/001661
Tests can be done during pregnancy to find out if the child has this syndrome. […] Genetic counseling is recommended for parents who have a child with this syndrome and who want to have more children.
#10 What makes Edwards Syndrome a rare genetic disorder | Apollo Hospitals
https://www.apollohospitals.com/diseases-and-conditions/what-makes-edwards-syndrome-a-rare-genetic-disorder
Most types of Edwards syndrome cases are not hereditary. So, they cannot be prevented. To date, there is no scientific evidence as to what a parent could have done to cause or prevent trisomy 18 in their baby. So, this is a chromosomal error that is considered to be random. However, technological advancements like prenatal screening kits, genetic testing for pregnant women or testing cells from the amniotic fluid i.e. amniocentesis help to analyze the chromosomes. This can result in the early detection of the disease.
#11 Edwards Syndrome (Trisomy 18) | Condition | Unity Screen
https://www.unityscreen.com/conditions/edwards-syndrome
Discussing Trisomy 18 prenatal testing with your doctor is recommended for all pregnant patients. […] The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant people be offered screening for chromosomal abnormalities, including Trisomy 18. […] Testing for Trisomy 18 in pregnancy is recommended for any pregnant person, and especially those over the age of 35 who have a higher chance to have a baby with a chromosome condition.
#12 Trisomy 18 – Key Findings, Prenatal Screening and Prognosis – The ObG Project
https://www.obgproject.com/2016/07/21/trisomy-18-what-is-it/
Trisomy 18 (47,XX,+18 or 47,XY,+18) is also referred to as Edwards syndrome. […] ACOG requires all women be offered prenatal screening (biochemical/ cfDNA) or invasive testing (amniocentesis / CVS). […] Screening tests used to detect fetal Down syndrome also include risk assessment for Trisomy 18. […] Offer confirmatory testing following a positive screening test for Trisomy 18 due to the potential for false positive results. […] If there is a family history or previous Trisomy 18 pregnancy, refer for genetic counseling.
#13 Edwards’ syndrome – UK National Screening Committee (UK NSC) – GOV.UK
https://view-health-screening-recommendations.service.gov.uk/edwards-syndrome/
Screening for this condition is recommended. […] The UK NSC endorses the offer of antenatal screening for Edwards syndrome as part of the following NHS fetal anomaly screening pathway: […] A combined screening test is offered to all pregnant women in the first trimester between 10 and 14 weeks of pregnancy. […] The quadruple screening test is offered for Edwards syndrome when a pregnant woman is too late for the combined test or when the NT measurement cannot be obtained. […] Another screening test called non-invasive prenatal testing (NIPT), which is a blood test, is offered to parents when the result of the combined test or quadruple test indicates a higher chance greater than or equal to 1 in 150. […] If it is not possible to complete the combined or quadruple test, then the pregnant woman is offered screening for Edwards syndrome at the detailed 20-week ultrasound scan. […] Information about the screening tests should be provided to all pregnant women so they are able to make a personal informed choice about whether to have the tests. […] The UK NSC recommends screening for this condition, however this may vary slightly depending on where you are in the UK.
#14 Edwards’ syndrome – UK National Screening Committee (UK NSC) – GOV.UK
https://view-health-screening-recommendations.service.gov.uk/edwards-syndrome/
Screening for this condition is recommended. […] The UK NSC endorses the offer of antenatal screening for Edwards syndrome as part of the following NHS fetal anomaly screening pathway: […] A combined screening test is offered to all pregnant women in the first trimester between 10 and 14 weeks of pregnancy. […] The quadruple screening test is offered for Edwards syndrome when a pregnant woman is too late for the combined test or when the NT measurement cannot be obtained. […] Another screening test called non-invasive prenatal testing (NIPT), which is a blood test, is offered to parents when the result of the combined test or quadruple test indicates a higher chance greater than or equal to 1 in 150. […] If it is not possible to complete the combined or quadruple test, then the pregnant woman is offered screening for Edwards syndrome at the detailed 20-week ultrasound scan. […] Information about the screening tests should be provided to all pregnant women so they are able to make a personal informed choice about whether to have the tests. […] The UK NSC recommends screening for this condition, however this may vary slightly depending on where you are in the UK.
#15 Edwards’ syndrome – UK National Screening Committee (UK NSC) – GOV.UK
https://view-health-screening-recommendations.service.gov.uk/edwards-syndrome/
Screening for this condition is recommended. […] The UK NSC endorses the offer of antenatal screening for Edwards syndrome as part of the following NHS fetal anomaly screening pathway: […] A combined screening test is offered to all pregnant women in the first trimester between 10 and 14 weeks of pregnancy. […] The quadruple screening test is offered for Edwards syndrome when a pregnant woman is too late for the combined test or when the NT measurement cannot be obtained. […] Another screening test called non-invasive prenatal testing (NIPT), which is a blood test, is offered to parents when the result of the combined test or quadruple test indicates a higher chance greater than or equal to 1 in 150. […] If it is not possible to complete the combined or quadruple test, then the pregnant woman is offered screening for Edwards syndrome at the detailed 20-week ultrasound scan. […] Information about the screening tests should be provided to all pregnant women so they are able to make a personal informed choice about whether to have the tests. […] The UK NSC recommends screening for this condition, however this may vary slightly depending on where you are in the UK.
#16 Edwards’ syndrome – UK National Screening Committee (UK NSC) – GOV.UK
https://view-health-screening-recommendations.service.gov.uk/edwards-syndrome/
Screening for this condition is recommended. […] The UK NSC endorses the offer of antenatal screening for Edwards syndrome as part of the following NHS fetal anomaly screening pathway: […] A combined screening test is offered to all pregnant women in the first trimester between 10 and 14 weeks of pregnancy. […] The quadruple screening test is offered for Edwards syndrome when a pregnant woman is too late for the combined test or when the NT measurement cannot be obtained. […] Another screening test called non-invasive prenatal testing (NIPT), which is a blood test, is offered to parents when the result of the combined test or quadruple test indicates a higher chance greater than or equal to 1 in 150. […] If it is not possible to complete the combined or quadruple test, then the pregnant woman is offered screening for Edwards syndrome at the detailed 20-week ultrasound scan. […] Information about the screening tests should be provided to all pregnant women so they are able to make a personal informed choice about whether to have the tests. […] The UK NSC recommends screening for this condition, however this may vary slightly depending on where you are in the UK.
#17 Edwards’ syndrome – UK National Screening Committee (UK NSC) – GOV.UK
https://view-health-screening-recommendations.service.gov.uk/edwards-syndrome/
Screening for this condition is recommended. […] The UK NSC endorses the offer of antenatal screening for Edwards syndrome as part of the following NHS fetal anomaly screening pathway: […] A combined screening test is offered to all pregnant women in the first trimester between 10 and 14 weeks of pregnancy. […] The quadruple screening test is offered for Edwards syndrome when a pregnant woman is too late for the combined test or when the NT measurement cannot be obtained. […] Another screening test called non-invasive prenatal testing (NIPT), which is a blood test, is offered to parents when the result of the combined test or quadruple test indicates a higher chance greater than or equal to 1 in 150. […] If it is not possible to complete the combined or quadruple test, then the pregnant woman is offered screening for Edwards syndrome at the detailed 20-week ultrasound scan. […] Information about the screening tests should be provided to all pregnant women so they are able to make a personal informed choice about whether to have the tests. […] The UK NSC recommends screening for this condition, however this may vary slightly depending on where you are in the UK.
#18 Trisomy 18 – Key Findings, Prenatal Screening and Prognosis – The ObG Project
https://www.obgproject.com/2016/07/21/trisomy-18-what-is-it/
Trisomy 18 (47,XX,+18 or 47,XY,+18) is also referred to as Edwards syndrome. […] ACOG requires all women be offered prenatal screening (biochemical/ cfDNA) or invasive testing (amniocentesis / CVS). […] Screening tests used to detect fetal Down syndrome also include risk assessment for Trisomy 18. […] Offer confirmatory testing following a positive screening test for Trisomy 18 due to the potential for false positive results. […] If there is a family history or previous Trisomy 18 pregnancy, refer for genetic counseling.
#19 FloridaHealthFinder | Trisomy 18 | Health Encyclopedia | FloridaHealthFinder
https://quality.healthfinder.fl.gov/health-encyclopedia/HIE/1/001661
Tests can be done during pregnancy to find out if the child has this syndrome. […] Genetic counseling is recommended for parents who have a child with this syndrome and who want to have more children.
#20 What makes Edwards Syndrome a rare genetic disorder | Apollo Hospitals
https://www.apollohospitals.com/diseases-and-conditions/what-makes-edwards-syndrome-a-rare-genetic-disorder
Most types of Edwards syndrome cases are not hereditary. So, they cannot be prevented. To date, there is no scientific evidence as to what a parent could have done to cause or prevent trisomy 18 in their baby. So, this is a chromosomal error that is considered to be random. However, technological advancements like prenatal screening kits, genetic testing for pregnant women or testing cells from the amniotic fluid i.e. amniocentesis help to analyze the chromosomes. This can result in the early detection of the disease.
#21
https://step2.medbullets.com/pediatrics/120564/edwards-syndrome
No preventive measures are available at this time. […] Selective pregnancy termination has been employed following amnio/CVS.
#22 Trisomy 18 – Key Findings, Prenatal Screening and Prognosis – The ObG Project
https://www.obgproject.com/2016/07/21/trisomy-18-what-is-it/
Trisomy 18 (47,XX,+18 or 47,XY,+18) is also referred to as Edwards syndrome. […] ACOG requires all women be offered prenatal screening (biochemical/ cfDNA) or invasive testing (amniocentesis / CVS). […] Screening tests used to detect fetal Down syndrome also include risk assessment for Trisomy 18. […] Offer confirmatory testing following a positive screening test for Trisomy 18 due to the potential for false positive results. […] If there is a family history or previous Trisomy 18 pregnancy, refer for genetic counseling.
#23 Trisomy 18 (Edwards syndrome)
https://www.aboutkidshealth.ca/trisomy-18-edwards-syndrome
Parents of a baby with trisomy 18 are encouraged to seek genetic counselling. […] Genetic counselling is recommended.
#24 FloridaHealthFinder | Trisomy 18 | Health Encyclopedia | FloridaHealthFinder
https://quality.healthfinder.fl.gov/health-encyclopedia/HIE/1/001661
Tests can be done during pregnancy to find out if the child has this syndrome. […] Genetic counseling is recommended for parents who have a child with this syndrome and who want to have more children.
#25 Trisomy 18 (Edwards syndrome)
https://www.aboutkidshealth.ca/trisomy-18-edwards-syndrome
Parents of a baby with trisomy 18 are encouraged to seek genetic counselling. […] Genetic counselling is recommended.
#26 Trisomy 18 – Key Findings, Prenatal Screening and Prognosis – The ObG Project
https://www.obgproject.com/2016/07/21/trisomy-18-what-is-it/
Trisomy 18 (47,XX,+18 or 47,XY,+18) is also referred to as Edwards syndrome. […] ACOG requires all women be offered prenatal screening (biochemical/ cfDNA) or invasive testing (amniocentesis / CVS). […] Screening tests used to detect fetal Down syndrome also include risk assessment for Trisomy 18. […] Offer confirmatory testing following a positive screening test for Trisomy 18 due to the potential for false positive results. […] If there is a family history or previous Trisomy 18 pregnancy, refer for genetic counseling.
#27 Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook
https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome
Edwards syndrome (trisomy 18) is the result of a genetic mutation and theres no way to prevent the condition. […] However, if you qualify for a combination of genetic testing and in vitro fertilization (preimplantation genetic testing), you can significantly reduce the chance of having a child with Edwards syndrome (trisomy 18). […] If you plan on becoming pregnant and want to understand your risk of having a child with a genetic condition, talk with your healthcare provider about genetic testing.
#28 Trisomy 18: Causes, Symptoms, Types, Diagnosis, Treatment and Prevention
https://www.prepladder.com/neet-pg-study-material/pathology/trisomy-18-causes-symptoms-types-diagnosis-treatment-and-prevention
There is no method to prevent Edwards syndrome (trisomy 18), which is the outcome of a genetic mutation. However, you can dramatically lower the possibility of having a kid with Edwards syndrome (trisomy 18) if you are eligible for preimplantation genetic testing in conjunction with in vitro fertilization. […] Speak with your healthcare practitioner about genetic testing if you intend to get pregnant and want to know your likelihood of giving birth to a child who has a genetic disorder.
#29 FloridaHealthFinder | Trisomy 18 | Health Encyclopedia | FloridaHealthFinder
https://quality.healthfinder.fl.gov/health-encyclopedia/HIE/1/001661
Tests can be done during pregnancy to find out if the child has this syndrome. […] Genetic counseling is recommended for parents who have a child with this syndrome and who want to have more children.
#30 Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook
https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome
Edwards syndrome (trisomy 18) is the result of a genetic mutation and theres no way to prevent the condition. […] However, if you qualify for a combination of genetic testing and in vitro fertilization (preimplantation genetic testing), you can significantly reduce the chance of having a child with Edwards syndrome (trisomy 18). […] If you plan on becoming pregnant and want to understand your risk of having a child with a genetic condition, talk with your healthcare provider about genetic testing.
#31 Trisomy 18: Causes, Symptoms, Types, Diagnosis, Treatment and Prevention
https://www.prepladder.com/neet-pg-study-material/pathology/trisomy-18-causes-symptoms-types-diagnosis-treatment-and-prevention
There is no method to prevent Edwards syndrome (trisomy 18), which is the outcome of a genetic mutation. However, you can dramatically lower the possibility of having a kid with Edwards syndrome (trisomy 18) if you are eligible for preimplantation genetic testing in conjunction with in vitro fertilization. […] Speak with your healthcare practitioner about genetic testing if you intend to get pregnant and want to know your likelihood of giving birth to a child who has a genetic disorder.
#32 Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook
https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome
Edwards syndrome (trisomy 18) is the result of a genetic mutation and theres no way to prevent the condition. […] However, if you qualify for a combination of genetic testing and in vitro fertilization (preimplantation genetic testing), you can significantly reduce the chance of having a child with Edwards syndrome (trisomy 18). […] If you plan on becoming pregnant and want to understand your risk of having a child with a genetic condition, talk with your healthcare provider about genetic testing.
#33 Trisomy 18: Causes, Symptoms, Types, Diagnosis, Treatment and Prevention
https://www.prepladder.com/neet-pg-study-material/pathology/trisomy-18-causes-symptoms-types-diagnosis-treatment-and-prevention
There is no method to prevent Edwards syndrome (trisomy 18), which is the outcome of a genetic mutation. However, you can dramatically lower the possibility of having a kid with Edwards syndrome (trisomy 18) if you are eligible for preimplantation genetic testing in conjunction with in vitro fertilization. […] Speak with your healthcare practitioner about genetic testing if you intend to get pregnant and want to know your likelihood of giving birth to a child who has a genetic disorder.
#34 Edwards syndrome | EBSCO Research Starters
https://www.ebsco.com/research-starters/health-and-medicine/edwards-syndrome
There is no known prevention for the syndrome, and risk factors include advanced maternal and paternal age. […] Currently, there are no known preventive strategies. The spontaneous prenatal death rate is high. With prenatal diagnosis, elective termination of the pregnancy is often performed.
#35
https://step2.medbullets.com/pediatrics/120564/edwards-syndrome
No preventive measures are available at this time. […] Selective pregnancy termination has been employed following amnio/CVS.
#36 Edwards Syndrome (Trisomy 18) – MD Searchlight
https://mdsearchlight.com/genetic-disorders/edwards-syndrome-trisomy-18/
Edwards syndrome, a genetic disorder, unfortunately does not have a specific cure. This often makes it challenging for doctors and parents to decide on the best course of treatment. Parents usually need to make a difficult choice between palliative care, which focuses on providing relief from symptoms and improving quality of life, and extending their child’s life through intensive treatments or surgeries.
#37 Edwards’ syndrome – UK National Screening Committee (UK NSC) – GOV.UK
https://view-health-screening-recommendations.service.gov.uk/edwards-syndrome/
Screening for this condition is recommended. […] The UK NSC endorses the offer of antenatal screening for Edwards syndrome as part of the following NHS fetal anomaly screening pathway: […] A combined screening test is offered to all pregnant women in the first trimester between 10 and 14 weeks of pregnancy. […] The quadruple screening test is offered for Edwards syndrome when a pregnant woman is too late for the combined test or when the NT measurement cannot be obtained. […] Another screening test called non-invasive prenatal testing (NIPT), which is a blood test, is offered to parents when the result of the combined test or quadruple test indicates a higher chance greater than or equal to 1 in 150. […] If it is not possible to complete the combined or quadruple test, then the pregnant woman is offered screening for Edwards syndrome at the detailed 20-week ultrasound scan. […] Information about the screening tests should be provided to all pregnant women so they are able to make a personal informed choice about whether to have the tests. […] The UK NSC recommends screening for this condition, however this may vary slightly depending on where you are in the UK.
#38 Edwards Syndrome (Trisomy 18) | Condition | Unity Screen
https://www.unityscreen.com/conditions/edwards-syndrome
Discussing Trisomy 18 prenatal testing with your doctor is recommended for all pregnant patients. […] The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant people be offered screening for chromosomal abnormalities, including Trisomy 18. […] Testing for Trisomy 18 in pregnancy is recommended for any pregnant person, and especially those over the age of 35 who have a higher chance to have a baby with a chromosome condition.
#39 Edwards Syndrome (Trisomy 18) | Condition | Unity Screen
https://www.unityscreen.com/conditions/edwards-syndrome
Discussing Trisomy 18 prenatal testing with your doctor is recommended for all pregnant patients. […] The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant people be offered screening for chromosomal abnormalities, including Trisomy 18. […] Testing for Trisomy 18 in pregnancy is recommended for any pregnant person, and especially those over the age of 35 who have a higher chance to have a baby with a chromosome condition.
#40 Trisomy 18 – Key Findings, Prenatal Screening and Prognosis – The ObG Project
https://www.obgproject.com/2016/07/21/trisomy-18-what-is-it/
Trisomy 18 (47,XX,+18 or 47,XY,+18) is also referred to as Edwards syndrome. […] ACOG requires all women be offered prenatal screening (biochemical/ cfDNA) or invasive testing (amniocentesis / CVS). […] Screening tests used to detect fetal Down syndrome also include risk assessment for Trisomy 18. […] Offer confirmatory testing following a positive screening test for Trisomy 18 due to the potential for false positive results. […] If there is a family history or previous Trisomy 18 pregnancy, refer for genetic counseling.
#41 Edwards Syndrome (Trisomy 18) | Condition | Unity Screen
https://www.unityscreen.com/conditions/edwards-syndrome
Discussing Trisomy 18 prenatal testing with your doctor is recommended for all pregnant patients. […] The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant people be offered screening for chromosomal abnormalities, including Trisomy 18. […] Testing for Trisomy 18 in pregnancy is recommended for any pregnant person, and especially those over the age of 35 who have a higher chance to have a baby with a chromosome condition.
#42 Edwards’ syndrome – UK National Screening Committee (UK NSC) – GOV.UK
https://view-health-screening-recommendations.service.gov.uk/edwards-syndrome/
Screening for this condition is recommended. […] The UK NSC endorses the offer of antenatal screening for Edwards syndrome as part of the following NHS fetal anomaly screening pathway: […] A combined screening test is offered to all pregnant women in the first trimester between 10 and 14 weeks of pregnancy. […] The quadruple screening test is offered for Edwards syndrome when a pregnant woman is too late for the combined test or when the NT measurement cannot be obtained. […] Another screening test called non-invasive prenatal testing (NIPT), which is a blood test, is offered to parents when the result of the combined test or quadruple test indicates a higher chance greater than or equal to 1 in 150. […] If it is not possible to complete the combined or quadruple test, then the pregnant woman is offered screening for Edwards syndrome at the detailed 20-week ultrasound scan. […] Information about the screening tests should be provided to all pregnant women so they are able to make a personal informed choice about whether to have the tests. […] The UK NSC recommends screening for this condition, however this may vary slightly depending on where you are in the UK.
#43 Trisomy 18 – Key Findings, Prenatal Screening and Prognosis – The ObG Project
https://www.obgproject.com/2016/07/21/trisomy-18-what-is-it/
Trisomy 18 (47,XX,+18 or 47,XY,+18) is also referred to as Edwards syndrome. […] ACOG requires all women be offered prenatal screening (biochemical/ cfDNA) or invasive testing (amniocentesis / CVS). […] Screening tests used to detect fetal Down syndrome also include risk assessment for Trisomy 18. […] Offer confirmatory testing following a positive screening test for Trisomy 18 due to the potential for false positive results. […] If there is a family history or previous Trisomy 18 pregnancy, refer for genetic counseling.
#44 Trisomy 18 (Edwards syndrome)
https://www.aboutkidshealth.ca/trisomy-18-edwards-syndrome
Parents of a baby with trisomy 18 are encouraged to seek genetic counselling. […] Genetic counselling is recommended.
#45 Trisomy 18 – Key Findings, Prenatal Screening and Prognosis – The ObG Project
https://www.obgproject.com/2016/07/21/trisomy-18-what-is-it/
Trisomy 18 (47,XX,+18 or 47,XY,+18) is also referred to as Edwards syndrome. […] ACOG requires all women be offered prenatal screening (biochemical/ cfDNA) or invasive testing (amniocentesis / CVS). […] Screening tests used to detect fetal Down syndrome also include risk assessment for Trisomy 18. […] Offer confirmatory testing following a positive screening test for Trisomy 18 due to the potential for false positive results. […] If there is a family history or previous Trisomy 18 pregnancy, refer for genetic counseling.
#46 Trisomy 18: Causes, Symptoms, Types, Diagnosis, Treatment and Prevention
https://www.prepladder.com/neet-pg-study-material/pathology/trisomy-18-causes-symptoms-types-diagnosis-treatment-and-prevention
There is no method to prevent Edwards syndrome (trisomy 18), which is the outcome of a genetic mutation. However, you can dramatically lower the possibility of having a kid with Edwards syndrome (trisomy 18) if you are eligible for preimplantation genetic testing in conjunction with in vitro fertilization. […] Speak with your healthcare practitioner about genetic testing if you intend to get pregnant and want to know your likelihood of giving birth to a child who has a genetic disorder.
#47 What makes Edwards Syndrome a rare genetic disorder | Apollo Hospitals
https://www.apollohospitals.com/diseases-and-conditions/what-makes-edwards-syndrome-a-rare-genetic-disorder
Most types of Edwards syndrome cases are not hereditary. So, they cannot be prevented. To date, there is no scientific evidence as to what a parent could have done to cause or prevent trisomy 18 in their baby. So, this is a chromosomal error that is considered to be random. However, technological advancements like prenatal screening kits, genetic testing for pregnant women or testing cells from the amniotic fluid i.e. amniocentesis help to analyze the chromosomes. This can result in the early detection of the disease.