Zespół edwardsa (trisomia 18) – Rokowania, prognozy i postęp choroby

Zespół edwardsa (trisomia 18)
Rokowania, prognozy i postęp choroby

Zespół Edwardsa (trisomia 18) to rzadkie schorzenie genetyczne o częstości 1:2000-5000 żywych urodzeń, z przewagą płci żeńskiej. Charakteryzuje się licznymi wadami rozwojowymi, defektami narządów wewnętrznych i poważnymi zaburzeniami intelektualnymi, co skutkuje niską przeżywalnością. Spośród żywych urodzeń 60-75% przeżywa pierwszy tydzień, 20-40% pierwszy miesiąc, a jedynie 10-19% pierwszy rok życia. Mediana przeżycia wynosi od 2,5 do 14,5 dnia, z większością zgonów w ciągu pierwszych 2 tygodni. Czynniki wpływające na przeżycie to płeć (lepsze rokowanie u dziewczynek), typ trisomii (mozaikowa forma wiąże się z dłuższym przeżyciem), intensywność opieki medycznej (interwencje kardiochirurgiczne i intensywna terapia zwiększają przeżywalność do 30-50% w pierwszym roku) oraz stopień rozwoju narządów, zwłaszcza wrodzone wady serca.

Prognoza zespołu Edwardsa (trisomia 18)

Wskaźniki przeżycia
Czynniki wpływające na przeżycie
Główne przyczyny zgonów
Różnice geograficzne w przeżywalności
Prognoza długoterminowa
Różnice między typami zespołu Edwardsa
Postępy w opiece medycznej
Znaczenie poradnictwa genetycznego
Kolejne rozdziały

Prognoza zespołu Edwardsa (trisomia 18)

Zespół Edwardsa (trisomia 18) jest rzadkim schorzeniem genetycznym powstającym w wyniku błędów genetycznych w obrębie 18 chromosomu. Choroba występuje z częstością około 1 na 2000-5000 żywych urodzeń i znacznie częściej dotyka płci żeńskiej niż męskiej. ¹² Zaburzenie to prowadzi do licznych wad rozwojowych, deformacji fizycznych, defektów narządów wewnętrznych oraz poważnych zaburzeń intelektualnych i rozwojowych, co w konsekwencji skutkuje krótką prognozą przeżycia.

Wskaźniki przeżycia

Przeżywalność dzieci z zespołem Edwardsa jest niska i charakteryzuje się następującymi statystykami:³⁴

Około 50% płodów donoszonych rodzi się żywych, przy czym 40% umiera podczas porodu, a jedna trzecia żywych urodzeń to porody przedwczesne⁵
Spośród żywych urodzeń, między 60% a 75% noworodków przeżywa pierwszy tydzień życia⁶⁷
Między 20% a 40% noworodków przeżywa pierwszy miesiąc⁸⁹
Jedynie 10-19% przeżywa pierwszy rok życia¹⁰¹¹
Około 5 na 10 (52,5%) dzieci przeżywa dłużej niż 1 tydzień, a około 1 na 10 (12,3%) żyje dłużej niż 5 lat¹²

Mediana przeżycia wśród żywych urodzeń waha się między 2,5 a 14,5 dnia.¹³ Większość zgonów następuje w ciągu pierwszych dwóch tygodni życia, a około 80-90% niemowląt umiera w ciągu pierwszych 6 miesięcy.¹⁴

Czynniki wpływające na przeżycie

Istnieje kilka kluczowych czynników, które mogą wpływać na długość życia dzieci z zespołem Edwardsa:¹⁵¹⁶

Płeć dziecka – noworodki płci żeńskiej mają większe prawdopodobieństwo przeżycia w porównaniu do płci męskiej¹⁷
Typ trisomii – osoby z mozaikową postacią trisomii 18 często doświadczają dłuższego przeżycia w porównaniu do osób z pełną trisomią 18¹⁸
Intensywność opieki medycznej – nowsze badania wskazują, że intensywne interwencje medyczne, takie jak zaawansowana opieka szpitalna i operacje kardiochirurgiczne, mogą zwiększyć wskaźniki przeżywalności w pierwszym roku do 30-50%¹⁹
Stopień rozwoju narządów wewnętrznych – szczególnie istotne są wrodzone wady serca, które znacząco obniżają wskaźniki przeżycia²⁰

Krótkoterminowe wskaźniki przeżycia są silnie uzależnione od zakresu interwencji okołoporodowych i neonatologicznych.²¹ W badaniach wykazano, że pacjenci objęci wyłącznie opieką paliatywną mają znacznie niższe wskaźniki przeżycia w porównaniu do pacjentów poddanych aktywnym interwencjom medycznym.²²

Główne przyczyny zgonów

Główne przyczyny śmiertelności u pacjentów z zespołem Edwardsa obejmują:²³²⁴

Niewydolność serca spowodowana wrodzonymi wadami serca
Powikłania oddechowe, takie jak:
- Bezdech obturacyjny
- Nadciśnienie płucne
- Bezdech centralny
Napady drgawkowe

Różnice geograficzne w przeżywalności

Badania wskazują na znaczące różnice w przeżywalności dzieci z zespołem Edwardsa w zależności od regionu świata. W krajach o niskich i średnich dochodach wskaźniki przeżycia są istotnie niższe niż w krajach wysokorozwiniętych.²⁵ Różnice te wynikają głównie z dostępności zaawansowanej opieki medycznej, w tym intensywnej terapii noworodka oraz zabiegów kardiochirurgicznych.²⁶²⁷

Prognoza długoterminowa

Dzieci, które przeżyją pierwszy rok życia, stanowią mniej niż 10% wszystkich przypadków zespołu Edwardsa.²⁸ Te nieliczne przypadki charakteryzują się:²⁹³⁰

Ciężkimi zaburzeniami intelektualnymi – większość nigdy nie nauczy się chodzić ani mówić
Koniecznością całodobowej opieki i wsparcia pielęgniarskiego przez całe życie
Brakiem możliwości samodzielnego życia

Bardzo niewielka liczba dzieci może przeżyć do wieku nastoletnienia lub wczesnej dorosłości.³¹ Jednakże, nawet te dzieci wymagają stałej, całodobowej opieki oraz kompleksowego wsparcia w codziennych czynnościach. Żadna z młodych osób dorosłych z trisomią 18 nie jest w stanie prowadzić samodzielnego życia.³²³³

Różnice między typami zespołu Edwardsa

Oczekiwana długość życia różni się znacząco w zależności od formy zespołu Edwardsa:³⁴

Pełna trisomia 18 – uważana za stan ograniczający życie, ze wskaźnikami przeżycia opisanymi powyżej
Mozaikowa trisomia 18 – charakteryzuje się znacznie bardziej zmienną długością życia; niektóre osoby mogą żyć długo, podczas gdy inne mają krótszą prognozę przeżycia
Częściowa trisomia 18 – podobnie jak w przypadku formy mozaikowej, rokowanie jest bardzo zmienne i trudne do przewidzenia

Obecnie nie można precyzyjnie przewidzieć, w jaki sposób mozaikowe lub częściowe formy zespołu Edwardsa wpłyną na rozwój dziecka i długość jego życia.³⁵

Postępy w opiece medycznej

Pomimo że zespół Edwardsa pozostaje schorzeniem ograniczającym życie, w ostatnich latach odnotowano znaczący postęp w opiece medycznej, co przełożyło się na poprawę wskaźników przeżywalności.³⁶ Postępy te wynikają z:³⁷

Zwiększonej liczby hospitalizacji
Większej dostępności zabiegów chirurgicznych, w tym operacji kardiochirurgicznych
Wprowadzenia nowych technologii medycznych

Te postępy podkreślają potrzebę zrewidowania przestarzałej terminologii i przyjęcia języka, który dokładnie odzwierciedla postępy w opiece i szanuje doświadczenia osób dotkniętych tą chorobą oraz ich rodzin.³⁸

Znaczenie poradnictwa genetycznego

Dane dotyczące rokowania mają istotne znaczenie w poradnictwie dla kobiet z prenatalną diagnozą trisomii 18.³⁹ Informacje te mogą pomóc rodzicom w podejmowaniu świadomych decyzji dotyczących dalszego postępowania z ciążą.⁴⁰ Należy jednak pamiętać, że trudno jest przewidzieć, jak długo dziecko z zespołem Edwardsa będzie żyło.⁴¹

W krajach o niskich i średnich dochodach, gdzie dostęp do intensywnej opieki medycznej może być ograniczony, wskaźniki przeżycia są niższe niż te raportowane w literaturze z krajów wysokorozwiniętych.⁴² Personel medyczny powinien uwzględniać te różnice podczas poradnictwa dla kobiet w ciąży z rozpoznanym zespołem Edwardsa u płodu.

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Materiały źródłowe

#1 Trisomy 18 (Edwards Syndrome) – Mississippi State Department of Health
https://msdh.ms.gov/page/41,0,285,981.html
Trisomy 18, known as Edwards Syndrome, is a rare condition resulting from genetic errors on the 18th chromosome. The disorder occurs in approximately 1 in 5,000 live births and much more commonly affects females than males. This disorder often results in physical deformities, defects in internal organs, and severe intellectual and developmental disabilities. […] Most children with Trisomy 18 do not live beyond the first two weeks of life and fewer than 10% will live beyond the first year of life typically due to significant heart or lung defects. A small number will reach their teen years but often require continuous care and extensive support for daily living. […] It is hard to predict how long a child with Trisomy 18 will live.
#2 Trisomy 18 (also known as Edwards Syndrome) – MN Dept. of Health
https://www.health.state.mn.us/diseases/cy/trisomy18.html
Trisomy 18 occurs at a rate of 1 in 2000 live births. […] Studies have shown that only 50% of babies who are carried to term will be born alive. The median of survival among live births has varied between 2.5 and 14.5 days. About 90% – 95% of babies do not survive beyond the first year and many live only a few days. […] About 10% may survive their first birthdays and enjoy many more years of life with their families and become involved with their community. […] Very small numbers of children can survive as teens and young adults. If they do survive, they will require round-the-clock care and life-long home nursing support with activities of daily living. No young adults living with Trisomy 18 can live independently.
#3 Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook
https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome
Edwards syndrome (trisomy 18) is a genetic condition that causes physical growth delays during fetal development. Life expectancy for children diagnosed with Edwards syndrome is short due to several life-threatening complications of the condition. Children who survive past their first year may face severe intellectual challenges. […] The survival rate varies for babies born with Edwards syndrome (trisomy 18): Between 60% and 75% survive to their first week. Between 20% and 40% survive to their first month. No more than 10% survive past their first year. […] The survival rate is low, especially if your child has delayed organ development or a congenital heart condition. Out of the 10% who survive past their first birthday, children go on to live fulfilling lives with significant support from their family and caretakers, as most never learn to walk or talk.
#4 Edwards Syndrome – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK570597/
Prognosis: Although trisomy 18 remains life-limiting, recent advances in medical care have significantly improved survival rates and outcomes. Approximately 50% of fetuses carried to term are born alive, although 40% die during labor, and one-third of surviving fetuses are delivered preterm. Among live-born infants with trisomy 18, 60% to 75% survive the first week, 20% to 40% survive the first month, and 10% to 19% survive the first year. More recent studies indicate that intensive medical interventions, such as advanced hospital care and cardiac surgeries, can increase 1-year survival rates to 30% to 50%. […] Female infants with trisomy 18 have a higher likelihood of survival compared to males, and individuals with mosaic trisomy 18 often experience more prolonged survival compared to those with complete trisomy 18. The primary causes of mortality include cardiac failure due to congenital heart defects and respiratory complications, such as obstructive apnea, pulmonary hypertension, and central apnea.
#5 Edwards Syndrome – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK570597/
Prognosis: Although trisomy 18 remains life-limiting, recent advances in medical care have significantly improved survival rates and outcomes. Approximately 50% of fetuses carried to term are born alive, although 40% die during labor, and one-third of surviving fetuses are delivered preterm. Among live-born infants with trisomy 18, 60% to 75% survive the first week, 20% to 40% survive the first month, and 10% to 19% survive the first year. More recent studies indicate that intensive medical interventions, such as advanced hospital care and cardiac surgeries, can increase 1-year survival rates to 30% to 50%. […] Female infants with trisomy 18 have a higher likelihood of survival compared to males, and individuals with mosaic trisomy 18 often experience more prolonged survival compared to those with complete trisomy 18. The primary causes of mortality include cardiac failure due to congenital heart defects and respiratory complications, such as obstructive apnea, pulmonary hypertension, and central apnea.
#6 Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook
https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome
Edwards syndrome (trisomy 18) is a genetic condition that causes physical growth delays during fetal development. Life expectancy for children diagnosed with Edwards syndrome is short due to several life-threatening complications of the condition. Children who survive past their first year may face severe intellectual challenges. […] The survival rate varies for babies born with Edwards syndrome (trisomy 18): Between 60% and 75% survive to their first week. Between 20% and 40% survive to their first month. No more than 10% survive past their first year. […] The survival rate is low, especially if your child has delayed organ development or a congenital heart condition. Out of the 10% who survive past their first birthday, children go on to live fulfilling lives with significant support from their family and caretakers, as most never learn to walk or talk.
#7 Edwards Syndrome – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK570597/
Prognosis: Although trisomy 18 remains life-limiting, recent advances in medical care have significantly improved survival rates and outcomes. Approximately 50% of fetuses carried to term are born alive, although 40% die during labor, and one-third of surviving fetuses are delivered preterm. Among live-born infants with trisomy 18, 60% to 75% survive the first week, 20% to 40% survive the first month, and 10% to 19% survive the first year. More recent studies indicate that intensive medical interventions, such as advanced hospital care and cardiac surgeries, can increase 1-year survival rates to 30% to 50%. […] Female infants with trisomy 18 have a higher likelihood of survival compared to males, and individuals with mosaic trisomy 18 often experience more prolonged survival compared to those with complete trisomy 18. The primary causes of mortality include cardiac failure due to congenital heart defects and respiratory complications, such as obstructive apnea, pulmonary hypertension, and central apnea.
#8 Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook
https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome
Edwards syndrome (trisomy 18) is a genetic condition that causes physical growth delays during fetal development. Life expectancy for children diagnosed with Edwards syndrome is short due to several life-threatening complications of the condition. Children who survive past their first year may face severe intellectual challenges. […] The survival rate varies for babies born with Edwards syndrome (trisomy 18): Between 60% and 75% survive to their first week. Between 20% and 40% survive to their first month. No more than 10% survive past their first year. […] The survival rate is low, especially if your child has delayed organ development or a congenital heart condition. Out of the 10% who survive past their first birthday, children go on to live fulfilling lives with significant support from their family and caretakers, as most never learn to walk or talk.
#9 Edwards Syndrome – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK570597/
Prognosis: Although trisomy 18 remains life-limiting, recent advances in medical care have significantly improved survival rates and outcomes. Approximately 50% of fetuses carried to term are born alive, although 40% die during labor, and one-third of surviving fetuses are delivered preterm. Among live-born infants with trisomy 18, 60% to 75% survive the first week, 20% to 40% survive the first month, and 10% to 19% survive the first year. More recent studies indicate that intensive medical interventions, such as advanced hospital care and cardiac surgeries, can increase 1-year survival rates to 30% to 50%. […] Female infants with trisomy 18 have a higher likelihood of survival compared to males, and individuals with mosaic trisomy 18 often experience more prolonged survival compared to those with complete trisomy 18. The primary causes of mortality include cardiac failure due to congenital heart defects and respiratory complications, such as obstructive apnea, pulmonary hypertension, and central apnea.
#10 Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook
https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome
Edwards syndrome (trisomy 18) is a genetic condition that causes physical growth delays during fetal development. Life expectancy for children diagnosed with Edwards syndrome is short due to several life-threatening complications of the condition. Children who survive past their first year may face severe intellectual challenges. […] The survival rate varies for babies born with Edwards syndrome (trisomy 18): Between 60% and 75% survive to their first week. Between 20% and 40% survive to their first month. No more than 10% survive past their first year. […] The survival rate is low, especially if your child has delayed organ development or a congenital heart condition. Out of the 10% who survive past their first birthday, children go on to live fulfilling lives with significant support from their family and caretakers, as most never learn to walk or talk.
#11 Edwards Syndrome – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK570597/
Prognosis: Although trisomy 18 remains life-limiting, recent advances in medical care have significantly improved survival rates and outcomes. Approximately 50% of fetuses carried to term are born alive, although 40% die during labor, and one-third of surviving fetuses are delivered preterm. Among live-born infants with trisomy 18, 60% to 75% survive the first week, 20% to 40% survive the first month, and 10% to 19% survive the first year. More recent studies indicate that intensive medical interventions, such as advanced hospital care and cardiac surgeries, can increase 1-year survival rates to 30% to 50%. […] Female infants with trisomy 18 have a higher likelihood of survival compared to males, and individuals with mosaic trisomy 18 often experience more prolonged survival compared to those with complete trisomy 18. The primary causes of mortality include cardiac failure due to congenital heart defects and respiratory complications, such as obstructive apnea, pulmonary hypertension, and central apnea.
#12 Edwards’ syndrome | NHS inform
https://www.nhsinform.scot/illnesses-and-conditions/chromosomal-conditions/edwards-syndrome/
Around 7 in 10 (70%) of pregnancies diagnosed with Edwards syndrome from screening tests will end in miscarriage or stillbirth. […] Full form Edwards syndrome is considered to be a life-limiting condition. This means it can affect how long a baby can live. […] Around 5 in 10 (52.5%) will live longer than 1 week. Around 1 in 10 (12.3%) will live longer than 5 years. […] Currently we cant predict how babies with mosaic or partial forms of Edwards syndrome will be affected. […] The life expectancy for babies with mosaic or partial forms of Edwards syndrome is also very variable. Some will live long lives, while others will have a much shorter life expectancy.
#13 Trisomy 18 (also known as Edwards Syndrome) – MN Dept. of Health
https://www.health.state.mn.us/diseases/cy/trisomy18.html
Trisomy 18 occurs at a rate of 1 in 2000 live births. […] Studies have shown that only 50% of babies who are carried to term will be born alive. The median of survival among live births has varied between 2.5 and 14.5 days. About 90% – 95% of babies do not survive beyond the first year and many live only a few days. […] About 10% may survive their first birthdays and enjoy many more years of life with their families and become involved with their community. […] Very small numbers of children can survive as teens and young adults. If they do survive, they will require round-the-clock care and life-long home nursing support with activities of daily living. No young adults living with Trisomy 18 can live independently.
#14 Edwards Syndrome (Trisomy 18) | Concise Medical Knowledge
https://www.lecturio.com/concepts/edwards-syndrome-trisomy-18/
The majority of babies will die in utero. […] Of the babies born alive, 50% will die in the first 2 weeks of life, and 80%-90% will die in the first 6 months of life. […] Death is usually due to central apnea, heart failure, or seizures. […] With individualized care, a small number of children with Trisomy 18 have been reported to survive into childhood.
#15 Edwards Syndrome – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK570597/
Prognosis: Although trisomy 18 remains life-limiting, recent advances in medical care have significantly improved survival rates and outcomes. Approximately 50% of fetuses carried to term are born alive, although 40% die during labor, and one-third of surviving fetuses are delivered preterm. Among live-born infants with trisomy 18, 60% to 75% survive the first week, 20% to 40% survive the first month, and 10% to 19% survive the first year. More recent studies indicate that intensive medical interventions, such as advanced hospital care and cardiac surgeries, can increase 1-year survival rates to 30% to 50%. […] Female infants with trisomy 18 have a higher likelihood of survival compared to males, and individuals with mosaic trisomy 18 often experience more prolonged survival compared to those with complete trisomy 18. The primary causes of mortality include cardiac failure due to congenital heart defects and respiratory complications, such as obstructive apnea, pulmonary hypertension, and central apnea.
#16 Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16âyear experience from a public hospital in South Africa
https://pmc.ncbi.nlm.nih.gov/articles/PMC10098598/
Short-term survival rates are influenced by the extent of intrapartum and neonatal intervention. […] In the patients who continued their pregnancies, there were 14 live births, but the majority (64%) died within 24 h and only 3 (7%) survived beyond 1 week. […] None of our patients had aggressive management, and our survival rates are similar to those of Niedrist et al. in their cohort who chose comfort care only. […] The live born rates and the survival rates are significantly lower than in other reported studies. This is partly due to the inclusion of only prenatally diagnosed cases and partly due to the non-interventional and comfort care aspect of pre and postnatal management.
#17 Edwards Syndrome – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK570597/
Prognosis: Although trisomy 18 remains life-limiting, recent advances in medical care have significantly improved survival rates and outcomes. Approximately 50% of fetuses carried to term are born alive, although 40% die during labor, and one-third of surviving fetuses are delivered preterm. Among live-born infants with trisomy 18, 60% to 75% survive the first week, 20% to 40% survive the first month, and 10% to 19% survive the first year. More recent studies indicate that intensive medical interventions, such as advanced hospital care and cardiac surgeries, can increase 1-year survival rates to 30% to 50%. […] Female infants with trisomy 18 have a higher likelihood of survival compared to males, and individuals with mosaic trisomy 18 often experience more prolonged survival compared to those with complete trisomy 18. The primary causes of mortality include cardiac failure due to congenital heart defects and respiratory complications, such as obstructive apnea, pulmonary hypertension, and central apnea.
#18 Edwards Syndrome – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK570597/
Prognosis: Although trisomy 18 remains life-limiting, recent advances in medical care have significantly improved survival rates and outcomes. Approximately 50% of fetuses carried to term are born alive, although 40% die during labor, and one-third of surviving fetuses are delivered preterm. Among live-born infants with trisomy 18, 60% to 75% survive the first week, 20% to 40% survive the first month, and 10% to 19% survive the first year. More recent studies indicate that intensive medical interventions, such as advanced hospital care and cardiac surgeries, can increase 1-year survival rates to 30% to 50%. […] Female infants with trisomy 18 have a higher likelihood of survival compared to males, and individuals with mosaic trisomy 18 often experience more prolonged survival compared to those with complete trisomy 18. The primary causes of mortality include cardiac failure due to congenital heart defects and respiratory complications, such as obstructive apnea, pulmonary hypertension, and central apnea.
#19 Edwards Syndrome – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK570597/
Prognosis: Although trisomy 18 remains life-limiting, recent advances in medical care have significantly improved survival rates and outcomes. Approximately 50% of fetuses carried to term are born alive, although 40% die during labor, and one-third of surviving fetuses are delivered preterm. Among live-born infants with trisomy 18, 60% to 75% survive the first week, 20% to 40% survive the first month, and 10% to 19% survive the first year. More recent studies indicate that intensive medical interventions, such as advanced hospital care and cardiac surgeries, can increase 1-year survival rates to 30% to 50%. […] Female infants with trisomy 18 have a higher likelihood of survival compared to males, and individuals with mosaic trisomy 18 often experience more prolonged survival compared to those with complete trisomy 18. The primary causes of mortality include cardiac failure due to congenital heart defects and respiratory complications, such as obstructive apnea, pulmonary hypertension, and central apnea.
#20 Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook
https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome
Edwards syndrome (trisomy 18) is a genetic condition that causes physical growth delays during fetal development. Life expectancy for children diagnosed with Edwards syndrome is short due to several life-threatening complications of the condition. Children who survive past their first year may face severe intellectual challenges. […] The survival rate varies for babies born with Edwards syndrome (trisomy 18): Between 60% and 75% survive to their first week. Between 20% and 40% survive to their first month. No more than 10% survive past their first year. […] The survival rate is low, especially if your child has delayed organ development or a congenital heart condition. Out of the 10% who survive past their first birthday, children go on to live fulfilling lives with significant support from their family and caretakers, as most never learn to walk or talk.
#21 Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16âyear experience from a public hospital in South Africa
https://pmc.ncbi.nlm.nih.gov/articles/PMC10098598/
Short-term survival rates are influenced by the extent of intrapartum and neonatal intervention. […] In the patients who continued their pregnancies, there were 14 live births, but the majority (64%) died within 24 h and only 3 (7%) survived beyond 1 week. […] None of our patients had aggressive management, and our survival rates are similar to those of Niedrist et al. in their cohort who chose comfort care only. […] The live born rates and the survival rates are significantly lower than in other reported studies. This is partly due to the inclusion of only prenatally diagnosed cases and partly due to the non-interventional and comfort care aspect of pre and postnatal management.
#22 Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16âyear experience from a public hospital in South Africa
https://pmc.ncbi.nlm.nih.gov/articles/PMC10098598/
Short-term survival rates are influenced by the extent of intrapartum and neonatal intervention. […] In the patients who continued their pregnancies, there were 14 live births, but the majority (64%) died within 24 h and only 3 (7%) survived beyond 1 week. […] None of our patients had aggressive management, and our survival rates are similar to those of Niedrist et al. in their cohort who chose comfort care only. […] The live born rates and the survival rates are significantly lower than in other reported studies. This is partly due to the inclusion of only prenatally diagnosed cases and partly due to the non-interventional and comfort care aspect of pre and postnatal management.
#23 Edwards Syndrome – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK570597/
Prognosis: Although trisomy 18 remains life-limiting, recent advances in medical care have significantly improved survival rates and outcomes. Approximately 50% of fetuses carried to term are born alive, although 40% die during labor, and one-third of surviving fetuses are delivered preterm. Among live-born infants with trisomy 18, 60% to 75% survive the first week, 20% to 40% survive the first month, and 10% to 19% survive the first year. More recent studies indicate that intensive medical interventions, such as advanced hospital care and cardiac surgeries, can increase 1-year survival rates to 30% to 50%. […] Female infants with trisomy 18 have a higher likelihood of survival compared to males, and individuals with mosaic trisomy 18 often experience more prolonged survival compared to those with complete trisomy 18. The primary causes of mortality include cardiac failure due to congenital heart defects and respiratory complications, such as obstructive apnea, pulmonary hypertension, and central apnea.
#24 Edwards Syndrome (Trisomy 18) | Concise Medical Knowledge
https://www.lecturio.com/concepts/edwards-syndrome-trisomy-18/
The majority of babies will die in utero. […] Of the babies born alive, 50% will die in the first 2 weeks of life, and 80%-90% will die in the first 6 months of life. […] Death is usually due to central apnea, heart failure, or seizures. […] With individualized care, a small number of children with Trisomy 18 have been reported to survive into childhood.
#25 Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16âyear experience from a public hospital in South Africa
https://pmc.ncbi.nlm.nih.gov/articles/PMC10098598/
Many studies, largely from high-income countries (HIC), have reported outcomes in babies with trisomy 18 (T18), with a paucity of data from Africa. Knowledge of outcomes is important in counselling women prenatally diagnosed with T18. […] In our cohort, infants with T18 had lower live birth rates and shorter survival than in the current literature from HIC. This may be due to the implementation of nonaggressive intrapartum care and comfort care for the neonates. This has implications for counselling in our setting. […] Significantly lower survival rates for trisomy 18 in low-middle-income countries. […] Induction of labour without foetal monitoring results in a limited life span for babies with T18. This data can be shared in counselling these women to help them in making their choice of further pregnancy management.
#26 Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16âyear experience from a public hospital in South Africa
https://pmc.ncbi.nlm.nih.gov/articles/PMC10098598/
Many studies, largely from high-income countries (HIC), have reported outcomes in babies with trisomy 18 (T18), with a paucity of data from Africa. Knowledge of outcomes is important in counselling women prenatally diagnosed with T18. […] In our cohort, infants with T18 had lower live birth rates and shorter survival than in the current literature from HIC. This may be due to the implementation of nonaggressive intrapartum care and comfort care for the neonates. This has implications for counselling in our setting. […] Significantly lower survival rates for trisomy 18 in low-middle-income countries. […] Induction of labour without foetal monitoring results in a limited life span for babies with T18. This data can be shared in counselling these women to help them in making their choice of further pregnancy management.
#27 Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16âyear experience from a public hospital in South Africa
https://pmc.ncbi.nlm.nih.gov/articles/PMC10098598/
Short-term survival rates are influenced by the extent of intrapartum and neonatal intervention. […] In the patients who continued their pregnancies, there were 14 live births, but the majority (64%) died within 24 h and only 3 (7%) survived beyond 1 week. […] None of our patients had aggressive management, and our survival rates are similar to those of Niedrist et al. in their cohort who chose comfort care only. […] The live born rates and the survival rates are significantly lower than in other reported studies. This is partly due to the inclusion of only prenatally diagnosed cases and partly due to the non-interventional and comfort care aspect of pre and postnatal management.
#28 Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook
https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome
Edwards syndrome (trisomy 18) is a genetic condition that causes physical growth delays during fetal development. Life expectancy for children diagnosed with Edwards syndrome is short due to several life-threatening complications of the condition. Children who survive past their first year may face severe intellectual challenges. […] The survival rate varies for babies born with Edwards syndrome (trisomy 18): Between 60% and 75% survive to their first week. Between 20% and 40% survive to their first month. No more than 10% survive past their first year. […] The survival rate is low, especially if your child has delayed organ development or a congenital heart condition. Out of the 10% who survive past their first birthday, children go on to live fulfilling lives with significant support from their family and caretakers, as most never learn to walk or talk.
#29 Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook
https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome
Edwards syndrome (trisomy 18) is a genetic condition that causes physical growth delays during fetal development. Life expectancy for children diagnosed with Edwards syndrome is short due to several life-threatening complications of the condition. Children who survive past their first year may face severe intellectual challenges. […] The survival rate varies for babies born with Edwards syndrome (trisomy 18): Between 60% and 75% survive to their first week. Between 20% and 40% survive to their first month. No more than 10% survive past their first year. […] The survival rate is low, especially if your child has delayed organ development or a congenital heart condition. Out of the 10% who survive past their first birthday, children go on to live fulfilling lives with significant support from their family and caretakers, as most never learn to walk or talk.
#30 Trisomy 18 (also known as Edwards Syndrome) – MN Dept. of Health
https://www.health.state.mn.us/diseases/cy/trisomy18.html
Trisomy 18 occurs at a rate of 1 in 2000 live births. […] Studies have shown that only 50% of babies who are carried to term will be born alive. The median of survival among live births has varied between 2.5 and 14.5 days. About 90% – 95% of babies do not survive beyond the first year and many live only a few days. […] About 10% may survive their first birthdays and enjoy many more years of life with their families and become involved with their community. […] Very small numbers of children can survive as teens and young adults. If they do survive, they will require round-the-clock care and life-long home nursing support with activities of daily living. No young adults living with Trisomy 18 can live independently.
#31 Trisomy 18 (also known as Edwards Syndrome) – MN Dept. of Health
https://www.health.state.mn.us/diseases/cy/trisomy18.html
Trisomy 18 occurs at a rate of 1 in 2000 live births. […] Studies have shown that only 50% of babies who are carried to term will be born alive. The median of survival among live births has varied between 2.5 and 14.5 days. About 90% – 95% of babies do not survive beyond the first year and many live only a few days. […] About 10% may survive their first birthdays and enjoy many more years of life with their families and become involved with their community. […] Very small numbers of children can survive as teens and young adults. If they do survive, they will require round-the-clock care and life-long home nursing support with activities of daily living. No young adults living with Trisomy 18 can live independently.
#32 Trisomy 18 (also known as Edwards Syndrome) – MN Dept. of Health
https://www.health.state.mn.us/diseases/cy/trisomy18.html
Trisomy 18 occurs at a rate of 1 in 2000 live births. […] Studies have shown that only 50% of babies who are carried to term will be born alive. The median of survival among live births has varied between 2.5 and 14.5 days. About 90% – 95% of babies do not survive beyond the first year and many live only a few days. […] About 10% may survive their first birthdays and enjoy many more years of life with their families and become involved with their community. […] Very small numbers of children can survive as teens and young adults. If they do survive, they will require round-the-clock care and life-long home nursing support with activities of daily living. No young adults living with Trisomy 18 can live independently.
#33 Trisomy 18 (Edwards Syndrome) – Mississippi State Department of Health
https://msdh.ms.gov/page/41,0,285,981.html
Trisomy 18, known as Edwards Syndrome, is a rare condition resulting from genetic errors on the 18th chromosome. The disorder occurs in approximately 1 in 5,000 live births and much more commonly affects females than males. This disorder often results in physical deformities, defects in internal organs, and severe intellectual and developmental disabilities. […] Most children with Trisomy 18 do not live beyond the first two weeks of life and fewer than 10% will live beyond the first year of life typically due to significant heart or lung defects. A small number will reach their teen years but often require continuous care and extensive support for daily living. […] It is hard to predict how long a child with Trisomy 18 will live.
#34 Edwards’ syndrome | NHS inform
https://www.nhsinform.scot/illnesses-and-conditions/chromosomal-conditions/edwards-syndrome/
Around 7 in 10 (70%) of pregnancies diagnosed with Edwards syndrome from screening tests will end in miscarriage or stillbirth. […] Full form Edwards syndrome is considered to be a life-limiting condition. This means it can affect how long a baby can live. […] Around 5 in 10 (52.5%) will live longer than 1 week. Around 1 in 10 (12.3%) will live longer than 5 years. […] Currently we cant predict how babies with mosaic or partial forms of Edwards syndrome will be affected. […] The life expectancy for babies with mosaic or partial forms of Edwards syndrome is also very variable. Some will live long lives, while others will have a much shorter life expectancy.
#35 Edwards’ syndrome | NHS inform
https://www.nhsinform.scot/illnesses-and-conditions/chromosomal-conditions/edwards-syndrome/
Around 7 in 10 (70%) of pregnancies diagnosed with Edwards syndrome from screening tests will end in miscarriage or stillbirth. […] Full form Edwards syndrome is considered to be a life-limiting condition. This means it can affect how long a baby can live. […] Around 5 in 10 (52.5%) will live longer than 1 week. Around 1 in 10 (12.3%) will live longer than 5 years. […] Currently we cant predict how babies with mosaic or partial forms of Edwards syndrome will be affected. […] The life expectancy for babies with mosaic or partial forms of Edwards syndrome is also very variable. Some will live long lives, while others will have a much shorter life expectancy.
#36 Edwards Syndrome – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK570597/
Prognosis: Although trisomy 18 remains life-limiting, recent advances in medical care have significantly improved survival rates and outcomes. Approximately 50% of fetuses carried to term are born alive, although 40% die during labor, and one-third of surviving fetuses are delivered preterm. Among live-born infants with trisomy 18, 60% to 75% survive the first week, 20% to 40% survive the first month, and 10% to 19% survive the first year. More recent studies indicate that intensive medical interventions, such as advanced hospital care and cardiac surgeries, can increase 1-year survival rates to 30% to 50%. […] Female infants with trisomy 18 have a higher likelihood of survival compared to males, and individuals with mosaic trisomy 18 often experience more prolonged survival compared to those with complete trisomy 18. The primary causes of mortality include cardiac failure due to congenital heart defects and respiratory complications, such as obstructive apnea, pulmonary hypertension, and central apnea.
#37 Edwards Syndrome – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK570597/
Advancements, driven by increased hospitalizations, surgeries, and technological interventions, such as cardiac surgery, underscore the importance of revising outdated terminology. Although trisomy 18 remains life-limiting, it is vital to adopt language that accurately reflects the progress in care and honors the experiences of affected individuals and families.
#38 Edwards Syndrome – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK570597/
Advancements, driven by increased hospitalizations, surgeries, and technological interventions, such as cardiac surgery, underscore the importance of revising outdated terminology. Although trisomy 18 remains life-limiting, it is vital to adopt language that accurately reflects the progress in care and honors the experiences of affected individuals and families.
#39 Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16âyear experience from a public hospital in South Africa
https://pmc.ncbi.nlm.nih.gov/articles/PMC10098598/
Many studies, largely from high-income countries (HIC), have reported outcomes in babies with trisomy 18 (T18), with a paucity of data from Africa. Knowledge of outcomes is important in counselling women prenatally diagnosed with T18. […] In our cohort, infants with T18 had lower live birth rates and shorter survival than in the current literature from HIC. This may be due to the implementation of nonaggressive intrapartum care and comfort care for the neonates. This has implications for counselling in our setting. […] Significantly lower survival rates for trisomy 18 in low-middle-income countries. […] Induction of labour without foetal monitoring results in a limited life span for babies with T18. This data can be shared in counselling these women to help them in making their choice of further pregnancy management.
#40 Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16âyear experience from a public hospital in South Africa
https://pmc.ncbi.nlm.nih.gov/articles/PMC10098598/
Many studies, largely from high-income countries (HIC), have reported outcomes in babies with trisomy 18 (T18), with a paucity of data from Africa. Knowledge of outcomes is important in counselling women prenatally diagnosed with T18. […] In our cohort, infants with T18 had lower live birth rates and shorter survival than in the current literature from HIC. This may be due to the implementation of nonaggressive intrapartum care and comfort care for the neonates. This has implications for counselling in our setting. […] Significantly lower survival rates for trisomy 18 in low-middle-income countries. […] Induction of labour without foetal monitoring results in a limited life span for babies with T18. This data can be shared in counselling these women to help them in making their choice of further pregnancy management.
#41 Trisomy 18 (Edwards Syndrome) – Mississippi State Department of Health
https://msdh.ms.gov/page/41,0,285,981.html
Trisomy 18, known as Edwards Syndrome, is a rare condition resulting from genetic errors on the 18th chromosome. The disorder occurs in approximately 1 in 5,000 live births and much more commonly affects females than males. This disorder often results in physical deformities, defects in internal organs, and severe intellectual and developmental disabilities. […] Most children with Trisomy 18 do not live beyond the first two weeks of life and fewer than 10% will live beyond the first year of life typically due to significant heart or lung defects. A small number will reach their teen years but often require continuous care and extensive support for daily living. […] It is hard to predict how long a child with Trisomy 18 will live.
#42 Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16âyear experience from a public hospital in South Africa
https://pmc.ncbi.nlm.nih.gov/articles/PMC10098598/
Many studies, largely from high-income countries (HIC), have reported outcomes in babies with trisomy 18 (T18), with a paucity of data from Africa. Knowledge of outcomes is important in counselling women prenatally diagnosed with T18. […] In our cohort, infants with T18 had lower live birth rates and shorter survival than in the current literature from HIC. This may be due to the implementation of nonaggressive intrapartum care and comfort care for the neonates. This has implications for counselling in our setting. […] Significantly lower survival rates for trisomy 18 in low-middle-income countries. […] Induction of labour without foetal monitoring results in a limited life span for babies with T18. This data can be shared in counselling these women to help them in making their choice of further pregnancy management.