Zespół patau
Zapobieganie i profilaktyka

Zespół Patau (trisomia 13) to rzadkie zaburzenie genetyczne wynikające z obecności dodatkowej kopii chromosomu 13, najczęściej powstające na skutek spontanicznej mutacji, z wyjątkiem rzadkiej formy translokacyjnej. Diagnostyka prenatalna obejmuje badania ultrasonograficzne, amniocentezę, biopsję kosmówki (CVS) oraz nieinwazyjne testy prenatalne (NIPT), które umożliwiają wykrycie aberracji chromosomowej. Amniocenteza pozwala na analizę chromosomów komórek płynu owodniowego, co jest kluczowe w potwierdzeniu diagnozy. Poradnictwo genetyczne jest niezbędne, zwłaszcza w przypadku translokacyjnej formy zespołu, aby ocenić ryzyko wystąpienia choroby u kolejnych potomków oraz omówić dostępne opcje diagnostyczne i profilaktyczne. Ryzyko trisomii wzrasta u kobiet powyżej 35. roku życia, co podkreśla znaczenie badań genetycznych przed i w trakcie ciąży.

  1. Profilaktyka zespołu Patau
    1. Badania genetyczne i diagnostyczne
    2. Dostępne testy diagnostyczne
    3. Poradnictwo genetyczne
    4. Zmniejszanie ryzyka
  2. Kompleksowa opieka jako element profilaktyki powikłań
    1. Opieka domowa i multidyscyplinarna
    2. Element profilaktyki powikłań
    3. Kolejne rozdziały

Profilaktyka zespołu Patau

Zespół Patau (trisomia 13) to rzadkie zaburzenie genetyczne charakteryzujące się obecnością dodatkowej kopii chromosomu 13. Z uwagi na to, że zaburzenie to najczęściej powstaje w wyniku spontanicznej mutacji genetycznej, a nie dziedzicznego defektu genetycznego, nie istnieją skuteczne metody zapobiegania jego wystąpieniu, z wyjątkiem rzadkiej postaci translokacyjnej zespołu Patau.123

Badania genetyczne i diagnostyczne

Jedynym sposobem zapobiegania wystąpieniu tego zaburzenia chromosomowego jest wykonanie odpowiednich badań genetycznych w odpowiednim czasie. Szczegółowa analiza chromosomalna umożliwia sprawdzenie, czy płód jest dotknięty zespołem Patau, który mógł powstać w wyniku nagłej translokacji chromosomowej.4 Zespół Patau można zdiagnozować przed urodzeniem poprzez amniocentezę z badaniem chromosomów komórek płynu owodniowego.56

Obecnie dostępne są rozwiązania umożliwiające wykrycie i zapobieganie w przypadku ciąży. Ginekolodzy i personel medyczny są odpowiedzialni za informowanie kobiet w ciąży o możliwych nieznanych zespołach płodowych. Dlatego niezwykle istotne jest skonsultowanie się z lekarzem lub zlecenie analizy w specjalistycznym laboratorium oferującym odpowiednie testy.7

Dostępne testy diagnostyczne

Wśród badań, które mogą być wykonane w czasie ciąży w celu zdiagnozowania zespołu Patau, znajdują się:8

  • Badanie ultrasonograficzne płodu – nie stanowi oficjalnej diagnozy, ale może wykazać nieprawidłowości strukturalne
  • Amniocenteza – inwazyjna procedura umożliwiająca badanie chromosomów płodu
  • Badania przesiewowe pierwszego trymestru – mają jedynie charakter predykcyjny
  • Biopsja kosmówki (CVS) – wiąże się z ryzykiem poronienia
  • Nieinwazyjne badania prenatalne (NIPT) – bezpieczna metoda badania DNA płodu z krwi matki

9

Ponieważ zespół Patau jest bardzo poważnym schorzeniem, konieczne jest przeprowadzenie odpowiednich procedur analitycznych, aby kobieta w ciąży czuła się możliwie jak najbardziej komfortowo i nie była narażona na żadne ryzyko. Zawsze należy korzystać z porad lekarza lub ginekologa.10

Poradnictwo genetyczne

Rodzicom dzieci z zespołem Patau, szczególnie w przypadku postaci translokacyjnej, zaleca się przeprowadzenie badań genetycznych i poradnictwo genetyczne. Może to pomóc im w zrozumieniu prawdopodobieństwa urodzenia kolejnego dziecka z tym zaburzeniem.111213

Poradnictwo genetyczne powinno zawsze być dostępne dla rodziców dotkniętego dziecka, a amniocenteza jest opcją dla starszych matek z grupy ryzyka.14 Ponieważ translokacyjna forma zespołu Patau jest przekazywana genetycznie, poradnictwo genetyczne dla rodziców powinno być częścią postępowania w przypadku tej choroby.15

Poradnictwo genetyczne pomaga rodzicom w:16

  • Szczegółowym zrozumieniu wyników testów chromosomalnych
  • Zrozumieniu prawdopodobieństwa wystąpienia zaburzenia u kolejnych dzieci
  • Poznaniu opcji diagnostycznych dla przyszłych ciąż

17

Zmniejszanie ryzyka

Chociaż nie można zapobiec wadom genetycznym takim jak trisomia, ponieważ błąd chromosomowy występuje losowo podczas podziału komórkowego, można zmniejszyć ryzyko posiadania dziecka z zaburzeniem genetycznym poprzez:18

  • Zrozumienie ryzyka związanego z ciążą po 35. roku życia – zaburzenia trisomiczne, w tym zespół Patau, występują częściej u dzieci starszych matek1920
  • Wykonanie badań genetycznych przed zajściem w ciążę
  • Unikanie używek – wyrobów tytoniowych i alkoholu
  • Dbanie o zdrowie poprzez stosowanie zbilansowanej diety i regularne ćwiczenia

21

Kompleksowa opieka jako element profilaktyki powikłań

Istotnym elementem profilaktyki powikłań w zespole Patau jest zapewnienie kompleksowej opieki multidyscyplinarnej. Badania wskazują, że holistyczne podejście może znacząco poprawić jakość życia pacjentów i zapobiec wielu powikłaniom.22

Opieka domowa i multidyscyplinarna

Przykład pacjenta z zespołem Patau w wieku 2 lat, objętego opieką domową, wskazuje na pozytywny wpływ kompleksowej opieki na ogólny stan zdrowia. Multidyscyplinarne podejście zaowocowało niewielką odpowiedzią motoryczną, podkreślając pozytywny wpływ kompleksowej opieki na ogólny dobrostan pacjenta.23

Zwiększony wskaźnik przeżywalności zaobserwowany w opisywanym przypadku może być przypisany holistycznej opiece zapewnianej w środowisku domowym pacjenta. Proaktywne podejście zapewniło szybką pomoc medyczną i przyczyniło się do ogólnego zarządzania stanem zdrowia pacjenta, zapobiegając pogorszeniu jego stanu.24

Element profilaktyki powikłań

Istnienie solidnej sieci wsparcia dla rodzin borykających się z podobnymi wyzwaniami jest kluczowe, a multidyscyplinarna opieka może skutecznie zapobiegać powikłaniom związanym z tym zespołem.25 Opieka nad pacjentem przez zespół multidyscyplinarny w środowisku domowym i przy wsparciu rodziny może zwiększyć przeżywalność pacjenta.26

Ta kompleksowa strategia opieki skutecznie unikała niepotrzebnych hospitalizacji, minimalizowała bolesne procedury, takie jak nakłucia, i zapewniała stabilność kliniczną pacjenta.27 Zwiększona przeżywalność w opisywanym przypadku jest w pełni skorelowana z opieką domową oferowaną pacjentom w formie hospitalizacji domowej, oprócz inwazyjnych zabiegów takich jak tracheostomia i gastrostomia, wykonanych we wczesnym okresie życia pacjenta.28

Kolejne rozdziały

Zapraszamy do dalszego czytania naszego leksykonu.

Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.

  1. 11.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Patau syndrome | EBSCO Research Starters
    https://www.ebsco.com/research-starters/health-and-medicine/patau-syndrome
    Except for the rare translocation form of Patau syndrome, there is no effective means of prevention. […] Genetic counseling should always be available for parents of an affected child, and amniocentesis is an option for older at-risk mothers.
  • #2 Trisomy 13 (Patau Syndrome): Causes, Symptoms, Types, Diagnosis, Treatment And Prevention
    https://www.prepladder.com/neet-pg-study-material/pathology/trisomy-13-patau-syndrome-causes-symptoms-types-diagnosis-treatment-and-prevention
    Trisomy 13 (Patau syndrome) cannot be prevented because it results from an unexplained genetic abnormality. […] Pregnancy above 35 years of age increases the risk of having a child if you have a hereditary illness. […] If you plan to become pregnant and want to know whether there is a chance your unborn child will have a genetic condition, talk to your doctor about genetic testing.
  • #3 Patau Syndrome – baby, symptoms, average, Definition, Description, Demographics, Causes and symptoms
    http://www.healthofchildren.com/P/Patau-Syndrome.html
    There is no known way to prevent Patau syndrome though it can be diagnosed prenatally via amniocentesis. […] Since the translocation form of Patau syndrome is genetically transmitted, genetic counseling for the parents should be part of the management of the disease.
  • #4 Trisomy 13/Patau Syndrome: Causes, Symptoms And Prevention Of this Genetic Disorder 
    https://www.netmeds.com/health-library/post/trisomy-13-patau-syndrome-causes-symptoms-and-prevention-of-this-genetic-disorder?srsltid=AfmBOoqRuuqoffUHMGaCroF75EQ8Md_0byMuOSqU8SGnrctUs2tf-XSn
    The only way to prevent the occurrence of this chromosome abnormality is to get timely genetic testing done for parents. A detailed chromosome analysis is done to check if the baby is affected by Patau’s syndrome which may have happened by an abrupt chromosomal translocation. […] Moreover, Genetic testing is also carried out to help parents plan future pregnancies as part of the decision-making process. The test results will allow a more precise assessment to be made of the likelihood of the syndrome affecting future pregnancies.
  • #5 Trisomy 13 – UF Health
    https://ufhealth.org/conditions-and-treatments/trisomy-13
    Trisomy 13 can be diagnosed before birth by amniocentesis with chromosome studies of the amniotic cells. […] Parents of infants with trisomy 13 that is caused by a translocation should have genetic testing and counseling. This may help them be aware of the chances of having another child with the condition.
  • #6 Trisomy 13 – UF Health
    https://ufhealth.org/conditions-and-treatments/trisomy-13
    Trisomy 13 can be diagnosed before birth by amniocentesis with chromosome studies of the amniotic cells. […] Parents of infants with trisomy 13 that is caused by a translocation should have genetic testing and counseling. This may help them be aware of the chances of having another child with the condition.
  • #7 Patau’s syndrome – Ambar Lab
    https://ambar-lab.com/en/pataus-syndrome/
    Nowadays there are detection and prevention solutions available in case of pregnancy. […] Gynecologists and medical professionals are responsible for informing pregnant women of possible unknown fetal syndromes. Therefore, it is essential to consult a physician or request an analysis from an expert laboratory that offers these laboratory tests, such as AmbarLab. […] That is why it is so important to know the analyses and tests that can be performed during pregnancy to diagnose this syndrome and act as both the doctors and the pregnant woman deem appropriate. Some of the tests are fetal ultrasound (it is not an official diagnosis), amniocentesis, first trimester screening (it is only predictive), chorionic villus sampling (it has a risk of miscarriage) and non-invasive prenatal testing, NIPT. […] Since this is a very serious disease, it is necessary to perform the appropriate analytical procedures, so that the pregnant woman is as comfortable as possible and does not run any risk. You should always be advised by your doctor or gynecologist.
  • #8 Patau’s syndrome – Ambar Lab
    https://ambar-lab.com/en/pataus-syndrome/
    Nowadays there are detection and prevention solutions available in case of pregnancy. […] Gynecologists and medical professionals are responsible for informing pregnant women of possible unknown fetal syndromes. Therefore, it is essential to consult a physician or request an analysis from an expert laboratory that offers these laboratory tests, such as AmbarLab. […] That is why it is so important to know the analyses and tests that can be performed during pregnancy to diagnose this syndrome and act as both the doctors and the pregnant woman deem appropriate. Some of the tests are fetal ultrasound (it is not an official diagnosis), amniocentesis, first trimester screening (it is only predictive), chorionic villus sampling (it has a risk of miscarriage) and non-invasive prenatal testing, NIPT. […] Since this is a very serious disease, it is necessary to perform the appropriate analytical procedures, so that the pregnant woman is as comfortable as possible and does not run any risk. You should always be advised by your doctor or gynecologist.
  • #9 Patau’s syndrome – Ambar Lab
    https://ambar-lab.com/en/pataus-syndrome/
    Nowadays there are detection and prevention solutions available in case of pregnancy. […] Gynecologists and medical professionals are responsible for informing pregnant women of possible unknown fetal syndromes. Therefore, it is essential to consult a physician or request an analysis from an expert laboratory that offers these laboratory tests, such as AmbarLab. […] That is why it is so important to know the analyses and tests that can be performed during pregnancy to diagnose this syndrome and act as both the doctors and the pregnant woman deem appropriate. Some of the tests are fetal ultrasound (it is not an official diagnosis), amniocentesis, first trimester screening (it is only predictive), chorionic villus sampling (it has a risk of miscarriage) and non-invasive prenatal testing, NIPT. […] Since this is a very serious disease, it is necessary to perform the appropriate analytical procedures, so that the pregnant woman is as comfortable as possible and does not run any risk. You should always be advised by your doctor or gynecologist.
  • #10 Patau’s syndrome – Ambar Lab
    https://ambar-lab.com/en/pataus-syndrome/
    Nowadays there are detection and prevention solutions available in case of pregnancy. […] Gynecologists and medical professionals are responsible for informing pregnant women of possible unknown fetal syndromes. Therefore, it is essential to consult a physician or request an analysis from an expert laboratory that offers these laboratory tests, such as AmbarLab. […] That is why it is so important to know the analyses and tests that can be performed during pregnancy to diagnose this syndrome and act as both the doctors and the pregnant woman deem appropriate. Some of the tests are fetal ultrasound (it is not an official diagnosis), amniocentesis, first trimester screening (it is only predictive), chorionic villus sampling (it has a risk of miscarriage) and non-invasive prenatal testing, NIPT. […] Since this is a very serious disease, it is necessary to perform the appropriate analytical procedures, so that the pregnant woman is as comfortable as possible and does not run any risk. You should always be advised by your doctor or gynecologist.
  • #11 Trisomy 13 – UF Health
    https://ufhealth.org/conditions-and-treatments/trisomy-13
    Trisomy 13 can be diagnosed before birth by amniocentesis with chromosome studies of the amniotic cells. […] Parents of infants with trisomy 13 that is caused by a translocation should have genetic testing and counseling. This may help them be aware of the chances of having another child with the condition.
  • #12 Trisomy 13 – UF Health
    https://ufhealth.org/conditions-and-treatments/trisomy-13
    Trisomy 13 can be diagnosed before birth by amniocentesis with chromosome studies of the amniotic cells. […] Parents of infants with trisomy 13 that is caused by a translocation should have genetic testing and counseling. This may help them be aware of the chances of having another child with the condition.
  • #13 Trisomy 13 (Patau syndrome)
    https://www.aboutkidshealth.ca/trisomy-13-patau-syndrome
    Parents of a baby with trisomy 13 are encouraged to seek genetic counselling. […] Genetic counselling is recommended. […] This can help parents to understand the results of chromosomal tests in detail, understand the chances that other babies will be affected, and understand the diagnosis options for future pregnancies.
  • #14 Patau syndrome | EBSCO Research Starters
    https://www.ebsco.com/research-starters/health-and-medicine/patau-syndrome
    Except for the rare translocation form of Patau syndrome, there is no effective means of prevention. […] Genetic counseling should always be available for parents of an affected child, and amniocentesis is an option for older at-risk mothers.
  • #15 Patau Syndrome – baby, symptoms, average, Definition, Description, Demographics, Causes and symptoms
    http://www.healthofchildren.com/P/Patau-Syndrome.html
    There is no known way to prevent Patau syndrome though it can be diagnosed prenatally via amniocentesis. […] Since the translocation form of Patau syndrome is genetically transmitted, genetic counseling for the parents should be part of the management of the disease.
  • #16 Trisomy 13 (Patau syndrome)
    https://www.aboutkidshealth.ca/trisomy-13-patau-syndrome
    Parents of a baby with trisomy 13 are encouraged to seek genetic counselling. […] Genetic counselling is recommended. […] This can help parents to understand the results of chromosomal tests in detail, understand the chances that other babies will be affected, and understand the diagnosis options for future pregnancies.
  • #17 Trisomy 13 (Patau syndrome)
    https://www.aboutkidshealth.ca/trisomy-13-patau-syndrome
    Parents of a baby with trisomy 13 are encouraged to seek genetic counselling. […] Genetic counselling is recommended. […] This can help parents to understand the results of chromosomal tests in detail, understand the chances that other babies will be affected, and understand the diagnosis options for future pregnancies.
  • #18 Trisomy: Types of Trisomy Disorders
    https://my.clevelandclinic.org/health/diseases/22912-trisomy
    You cant prevent genetic conditions like trisomy from occurring because the chromosome error occurs randomly during cell division. […] You can reduce your risk of having a child with a genetic condition by: […] Understanding your risk of becoming pregnant if you are over 35 years old. […] Getting genetic screenings done before becoming pregnant. […] Avoiding using tobacco products and drinking alcohol. […] Taking care of your health by eating a well-balanced diet and exercising regularly. […] Since there is no way to prevent genetic abnormalities like trisomy conditions, if you plan on becoming pregnant, talk with your healthcare provider about genetic testing to assess your risk of having a child with a genetic condition.
  • #19 Patau Syndrome – MD Searchlight
    https://mdsearchlight.com/genetic-disorders/patau-syndrome/
    Health conditions caused by extra chromosomes, known as trisomies, and other genetic abnormalities are more frequently seen in pregnancies of older women. If youre a woman considering getting pregnant in your later years, you should be aware of this increased risk. Specifically, if a baby is diagnosed with Patau syndrome a condition caused by an extra copy of chromosome 13 the family should know that this disorder often leads to severe health problems.
  • #20 Trisomy 13 (Patau Syndrome): Causes, Symptoms, Types, Diagnosis, Treatment And Prevention
    https://www.prepladder.com/neet-pg-study-material/pathology/trisomy-13-patau-syndrome-causes-symptoms-types-diagnosis-treatment-and-prevention
    Trisomy 13 (Patau syndrome) cannot be prevented because it results from an unexplained genetic abnormality. […] Pregnancy above 35 years of age increases the risk of having a child if you have a hereditary illness. […] If you plan to become pregnant and want to know whether there is a chance your unborn child will have a genetic condition, talk to your doctor about genetic testing.
  • #21 Trisomy: Types of Trisomy Disorders
    https://my.clevelandclinic.org/health/diseases/22912-trisomy
    You cant prevent genetic conditions like trisomy from occurring because the chromosome error occurs randomly during cell division. […] You can reduce your risk of having a child with a genetic condition by: […] Understanding your risk of becoming pregnant if you are over 35 years old. […] Getting genetic screenings done before becoming pregnant. […] Avoiding using tobacco products and drinking alcohol. […] Taking care of your health by eating a well-balanced diet and exercising regularly. […] Since there is no way to prevent genetic abnormalities like trisomy conditions, if you plan on becoming pregnant, talk with your healthcare provider about genetic testing to assess your risk of having a child with a genetic condition.
  • #22
    https://pmc.ncbi.nlm.nih.gov/articles/PMC11452050/
    To recognize and address Pataus syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services. […] This multidisciplinary approach has resulted in a slight motor response, highlighting the positive impact of comprehensive care on her overall well-being. The existence of a robust support network for families facing similar challenges is crucial, and a multidisciplinary care can effectively prevent complications associated with this impactful syndrome. […] It is believed that the increased survival rate in the case described is fully correlated to the Home Care offered to patients in the form of home hospitalization, in addition to invasive treatments such as tracheostomy and gastrostomy administered early in the patients life.
  • #23
    https://pmc.ncbi.nlm.nih.gov/articles/PMC11452050/
    To recognize and address Pataus syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services. […] This multidisciplinary approach has resulted in a slight motor response, highlighting the positive impact of comprehensive care on her overall well-being. The existence of a robust support network for families facing similar challenges is crucial, and a multidisciplinary care can effectively prevent complications associated with this impactful syndrome. […] It is believed that the increased survival rate in the case described is fully correlated to the Home Care offered to patients in the form of home hospitalization, in addition to invasive treatments such as tracheostomy and gastrostomy administered early in the patients life.
  • #24
    https://pmc.ncbi.nlm.nih.gov/articles/PMC11452050/
    The increased survival rate observed in the aforementioned case can be possibly attributed to the holistic care provided within the patients home environment. […] This proactive approach ensured prompt medical attention and contributed to the overall management of the patients health, preventing the worsening of the condition. […] Patient care by a multidisciplinary team in the home environment and with family support can possibly increase patient survival. […] In conclusion, this comprehensive care strategy successfully avoided unnecessary hospitalizations, minimized painful procedures such as punctures, and ensured the patients clinical stability.
  • #25
    https://pmc.ncbi.nlm.nih.gov/articles/PMC11452050/
    To recognize and address Pataus syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services. […] This multidisciplinary approach has resulted in a slight motor response, highlighting the positive impact of comprehensive care on her overall well-being. The existence of a robust support network for families facing similar challenges is crucial, and a multidisciplinary care can effectively prevent complications associated with this impactful syndrome. […] It is believed that the increased survival rate in the case described is fully correlated to the Home Care offered to patients in the form of home hospitalization, in addition to invasive treatments such as tracheostomy and gastrostomy administered early in the patients life.
  • #26
    https://pmc.ncbi.nlm.nih.gov/articles/PMC11452050/
    The increased survival rate observed in the aforementioned case can be possibly attributed to the holistic care provided within the patients home environment. […] This proactive approach ensured prompt medical attention and contributed to the overall management of the patients health, preventing the worsening of the condition. […] Patient care by a multidisciplinary team in the home environment and with family support can possibly increase patient survival. […] In conclusion, this comprehensive care strategy successfully avoided unnecessary hospitalizations, minimized painful procedures such as punctures, and ensured the patients clinical stability.
  • #27
    https://pmc.ncbi.nlm.nih.gov/articles/PMC11452050/
    The increased survival rate observed in the aforementioned case can be possibly attributed to the holistic care provided within the patients home environment. […] This proactive approach ensured prompt medical attention and contributed to the overall management of the patients health, preventing the worsening of the condition. […] Patient care by a multidisciplinary team in the home environment and with family support can possibly increase patient survival. […] In conclusion, this comprehensive care strategy successfully avoided unnecessary hospitalizations, minimized painful procedures such as punctures, and ensured the patients clinical stability.
  • #28
    https://pmc.ncbi.nlm.nih.gov/articles/PMC11452050/
    To recognize and address Pataus syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services. […] This multidisciplinary approach has resulted in a slight motor response, highlighting the positive impact of comprehensive care on her overall well-being. The existence of a robust support network for families facing similar challenges is crucial, and a multidisciplinary care can effectively prevent complications associated with this impactful syndrome. […] It is believed that the increased survival rate in the case described is fully correlated to the Home Care offered to patients in the form of home hospitalization, in addition to invasive treatments such as tracheostomy and gastrostomy administered early in the patients life.

Zobacz więcej

błąd chromosomowy tracheostomia NIPT opieka multidyscyplinarna badanie genetyczne trisomia 13 płyn owodniowy opieka domowa translokacja chromosomowa zespół Patau poradnictwo genetyczne USG płodu trisomia hospitalizacja gastrostomia biopsja kosmówki amniocenteza nakłucie zaburzenie chromosomowe DNA płodu zaburzenie genetyczne