Rozszczep wargi i podniebienia
Zapobieganie i profilaktyka
Rozszczep wargi i podniebienia (cheilognathoschisis) jest jedną z najczęstszych wad wrodzonych, występującą z częstością około 1:700-1500 żywych urodzeń. Profilaktyka pierwotna obejmuje suplementację kwasem foliowym w dawce 400 μg/dzień przed poczęciem oraz 600 μg/dzień w trakcie ciąży, szczególnie w pierwszych 12 tygodniach, co znacząco redukuje ryzyko rozszczepu. W przypadku kobiet z historią urodzenia dziecka z rozszczepem zaleca się profilaktykę wtórną z wyższymi dawkami kwasu foliowego (4-10 mg/dzień) pod ścisłym nadzorem lekarskim. Suplementacja preparatami wielowitaminowymi (np. Spofavit) wraz z wysokimi dawkami kwasu foliowego wykazała redukcję częstości występowania wady o 65,4%. Istotne jest także unikanie czynników ryzyka, takich jak palenie tytoniu, spożycie alkoholu, stosowanie leków przeciwpadaczkowych (topiramat, kwas walproinowy) oraz ekspozycja na toksyny.
- Profilaktyka rozszczepu wargi i podniebienia
- Kwas foliowy jako kluczowy element profilaktyki
- Dawkowanie kwasu foliowego w profilaktyce rozszczepu
- Unikanie czynników ryzyka podczas ciąży
- Kompleksowa opieka przedkoncepcyjna i prenatalna
- Poradnictwo genetyczne
- Specyficzne podejścia do profilaktyki rozszczepu
- Profilaktyka pierwotna i wtórna
- Znaczenie innych składników odżywczych
- Antybiotykoterapia profilaktyczna po operacji rozszczepu
- Wpływ profilaktyki na zdrowie publiczne
Profilaktyka rozszczepu wargi i podniebienia
Rozszczep wargi i podniebienia (łac. cheilognathoschisis) należy do najczęstszych wad wrodzonych, występując z częstością około 1 na 700-1500 żywych urodzeń na świecie. Chociaż w większości przypadków rozszczepy wargi i podniebienia mają charakter dziedziczny i nie zawsze można im zapobiec, istnieją działania profilaktyczne, które mogą zmniejszyć ryzyko wystąpienia tej wady u dziecka.123
Kwas foliowy jako kluczowy element profilaktyki
Liczne badania wskazują na istotną rolę kwasu foliowego w zapobieganiu wadom wrodzonym, w tym rozszczepom wargi i podniebienia. Przyjmowanie kwasu foliowego przed poczęciem i we wczesnym okresie ciąży może znacząco zmniejszyć ryzyko wystąpienia tej wady:45
- Kobiety planujące ciążę powinny przyjmować 400 mikrogramów kwasu foliowego dziennie przed poczęciem
- W trakcie ciąży zalecane jest przyjmowanie 600 mikrogramów kwasu foliowego dziennie
- Suplementacja powinna być kontynuowana przez pierwsze 12 tygodni ciąży, kiedy formują się struktury twarzy płodu
Badania prowadzone w Irlandii wykazały, że matki, które nie przyjmowały kwasu foliowego w pierwszych trzech miesiącach ciąży, miały czterokrotnie wyższe ryzyko urodzenia dzieci z rozszczepem wargi i podniebienia w porównaniu do matek przyjmujących suplementy.1 Natomiast badania przeprowadzone na populacji kalifornijskiej wykazały, że suplementacja kwasem foliowym może zmniejszyć ryzyko wystąpienia rozszczepu wargi i podniebienia o 27-50%.78
Dawkowanie kwasu foliowego w profilaktyce rozszczepu
Istnieją różnice w zaleceniach dotyczących dawkowania kwasu foliowego w zależności od czynników ryzyka:910
- Profilaktyka pierwotna (zapobieganie wystąpieniu wady u kobiet bez historii rozszczepu w rodzinie): 400 mikrogramów kwasu foliowego dziennie
- Profilaktyka wtórna (zapobieganie powtórnemu wystąpieniu wady u kobiet, które urodziły już dziecko z rozszczepem): wyższe dawki kwasu foliowego (4-10 mg dziennie) pod nadzorem lekarza
W czeskim nierandomizowanym prospektywnym badaniu interwencyjnym obejmującym 221 ciąż u kobiet z ryzykiem urodzenia dziecka z rozszczepem wargi i podniebienia, zaobserwowano znaczące (65,4%) zmniejszenie częstości występowania rozszczepu po zastosowaniu suplementacji preparatem Spofavit (zawierającym witaminy A, B1, B2, B6, C, D3, E, nikotynamid i pantothenian wapnia) oraz wysokich dawek kwasu foliowego (10 mg dziennie).9
Unikanie czynników ryzyka podczas ciąży
Oprócz suplementacji kwasem foliowym, istotne jest również unikanie czynników, które zwiększają ryzyko wystąpienia rozszczepu wargi i podniebienia:136
- Palenie tytoniu – kobiety w ciąży powinny całkowicie zrezygnować z palenia
- Spożywanie alkoholu – należy unikać alkoholu w każdej postaci (piwo, wino, napoje wysokoprocentowe)
- Leki przeciwpadaczkowe – niektóre leki przeciwdrgawkowe (np. topiramat, kwas walproinowy) zwiększają ryzyko rozszczepu
- Leki stosowane w chemioterapii – w tym metotreksat stosowany w leczeniu nowotworów, reumatoidalnego zapalenia stawów i łuszczycy
- Ekspozycja na substancje toksyczne – narażenie na działanie określonych chemikaliów podczas ciąży
Kobiety przyjmujące leki przeciwpadaczkowe powinny skonsultować się z lekarzem przed zajściem w ciążę. Pod nadzorem medycznym może być możliwe zmniejszenie liczby leków i obniżenie ryzyka wystąpienia wady. Łączenie dwóch lub więcej leków przeciwdrgawkowych dodatkowo zwiększa ryzyko wystąpienia rozszczepu wargi i podniebienia.1315
Kompleksowa opieka przedkoncepcyjna i prenatalna
Ważnym elementem profilaktyki rozszczepu wargi i podniebienia jest odpowiednia opieka medyczna przed i w trakcie ciąży:216
- Porada przedkoncepcyjna – wizyta u lekarza przed zajściem w ciążę, oceniająca stan zdrowia przyszłej matki
- Kontrola masy ciała – osiągnięcie prawidłowej masy ciała przed ciążą i kontrolowane przybieranie na wadze w czasie ciąży
- Wczesna i regularna opieka prenatalna – systematyczne wizyty kontrolne w czasie ciąży
- Ochrona przed infekcjami – aktualizacja szczepień, szczególnie przeciwko różyczce, oraz regularne mycie rąk
- Weryfikacja przyjmowanych leków – konsultacja z lekarzem w sprawie bezpieczeństwa stosowanych leków w okresie ciąży
Poradnictwo genetyczne
Dla osób z obciążonym wywiadem rodzinnym w kierunku rozszczepu wargi i podniebienia istotne jest skorzystanie z poradnictwa genetycznego:1819
- Pozwala określić ryzyko wystąpienia wady u potomstwa
- Umożliwia planowanie odpowiedniej profilaktyki i leczenia
- Dostarcza informacji na temat dostępnych badań genetycznych
- Pomaga w podjęciu świadomych decyzji dotyczących planowania rodziny
Poradnictwo genetyczne jest szczególnie zalecane osobom, które mają już dziecko z rozszczepem wargi i podniebienia, ponieważ w takich przypadkach ryzyko urodzenia kolejnego dziecka z tą wadą jest zwiększone.2223
Specyficzne podejścia do profilaktyki rozszczepu
Profilaktyka pierwotna i wtórna
W zapobieganiu rozszczepom wargi i podniebienia wyróżnia się dwa główne podejścia:9
- Profilaktyka pierwotna – zapobieganie wystąpieniu wady rozwojowej przed jej rozwinięciem się u zarodka lub płodu:
- Stosowana w populacji ogólnej dla zapobiegania nowym przypadkom
- Opiera się głównie na suplementacji witaminowej i kwasem foliowym w dawce 400 μg dziennie
- Obejmuje również modyfikację stylu życia i unikanie czynników ryzyka
- Profilaktyka wtórna – zapobieganie ponownemu wystąpieniu wady w rodzinach ryzyka:
- Stosowana u kobiet, które urodziły już dziecko z rozszczepem
- Zazwyczaj zalecane są wyższe dawki kwasu foliowego (4-10 mg dziennie)
- Wymaga ścisłej współpracy z lekarzem i monitorowania przebiegu ciąży
Badania wykazały, że profilaktyka wtórna z zastosowaniem wyższych dawek kwasu foliowego może być szczególnie skuteczna w rodzinach, w których już wystąpił rozszczep wargi i/lub podniebienia.109
Znaczenie innych składników odżywczych
Oprócz kwasu foliowego, badania wskazują na znaczenie innych składników odżywczych w profilaktyce rozszczepu wargi i podniebienia:7
- Witamina B6 – wspomaga prawidłowy rozwój układu nerwowego płodu
- Witamina B12 – współdziała z kwasem foliowym w procesach metabolicznych
- Cynk – niezbędny dla prawidłowego rozwoju tkanek i funkcjonowania układu odpornościowego
- Inne witaminy (A, C, D, E) – wspomagają ogólny rozwój płodu i funkcjonowanie układu odpornościowego
Badania wskazują, że programy profilaktyczne powinny być dostosowane do specyfiki danej populacji, uwzględniając różnice etniczne i geograficzne.727
Antybiotykoterapia profilaktyczna po operacji rozszczepu
W kontekście profilaktyki powikłań po zabiegach chirurgicznej korekcji rozszczepu wargi i podniebienia, nie ma obecnie jednoznacznych wytycznych dotyczących stosowania antybiotyków profilaktycznych po operacji:28
- Brak jest konsensusu dotyczącego rutynowego stosowania antybiotyków po zabiegach rekonstrukcyjnych rozszczepu wargi i podniebienia
- Dostępne dane naukowe nie pozwalają na sformułowanie jednoznacznych rekomendacji
- W krajach o niższym dochodzie, bez dostępu do specjalistycznych ośrodków opieki trzeciego stopnia, chirurdzy powinni rozważyć analizę korzyści i kosztów wdrożenia profilaktycznej antybiotykoterapii pooperacyjnej
- Badania wykazują, że mikrobiologiczny screening nie przynosi dodatkowych korzyści w kontekście profilaktyki antybiotykowej
Wpływ profilaktyki na zdrowie publiczne
Korzyści zdrowotne i ekonomiczne
Skuteczna profilaktyka rozszczepu wargi i podniebienia niesie ze sobą istotne korzyści zdrowotne i ekonomiczne:827
- Zmniejszenie częstości występowania wady, która wymaga złożonego, multidyscyplinarnego leczenia
- Redukcja kosztów związanych z leczeniem chirurgicznym, stomatologicznym, ortodontycznym i logopedycznym
- Poprawa jakości życia dzieci i ich rodzin
- Zmniejszenie obciążenia systemów opieki zdrowotnej
- Redukcja wskaźnika DALY (ang. Disability-Adjusted Life Years) – lat życia skorygowanych niepełnosprawnością
Koszty związane z rozszczepem wargi i podniebienia są wysokie i obejmują nie tylko aspekty finansowe, ale również długoterminowe skutki psychologiczne i społeczno-ekonomiczne. Właściwa profilaktyka może przynieść ogromne oszczędności nie tylko finansowe, ale także poprawić ogólną jakość życia.831
Edukacja i świadomość społeczna
Ważnym elementem profilaktyki rozszczepu wargi i podniebienia jest zwiększanie świadomości społecznej i edukacja:2332
- Informowanie o czynnikach ryzyka i możliwościach zapobiegania wadom wrodzonym
- Edukacja pracowników ochrony zdrowia w zakresie najnowszych metod profilaktyki
- Zwiększanie dostępu do opieki przedkoncepcyjnej i prenatalnej
- Wspieranie inicjatyw na rzecz redukcji ciąż wśród nastolatek
- Promowanie zdrowego stylu życia wśród kobiet w wieku rozrodczym
Organizacje takie jak Cleft Prevention International Foundation (CPIF) mają na celu zapobieganie rozszczepom wargi i podniebienia poprzez edukację i badania naukowe. Ich działania obejmują rozpowszechnianie wiedzy o możliwościach profilaktyki wśród społeczeństwa i pracowników ochrony zdrowia.3334
Wyzwania i perspektywy w profilaktyce rozszczepu
Pomimo postępów w zrozumieniu etiologii i profilaktyki rozszczepu wargi i podniebienia, nadal istnieją wyzwania:3536
- Złożona etiologia rozszczepu obejmująca zarówno czynniki genetyczne, jak i środowiskowe
- Trudności w identyfikacji wszystkich czynników ryzyka
- Zróżnicowana skuteczność działań profilaktycznych w różnych populacjach
- Nierówny dostęp do opieki zdrowotnej i suplementacji witaminowej na świecie
- Ograniczona świadomość społeczna dotycząca znaczenia profilaktyki przedkoncepcyjnej
Przyszłe kierunki badań koncentrują się na dokładniejszym poznaniu genetycznych podstaw rozszczepu wargi i podniebienia. Zrozumienie krok po kroku procesu formowania się twarzy może w przyszłości umożliwić opracowanie bardziej skutecznych interwencji zapobiegających tej wadzie.3537
Znaczenie multidyscyplinarnego podejścia
Kompleksowa profilaktyka i leczenie rozszczepu wargi i podniebienia wymaga multidyscyplinarnego podejścia:3827
- Zaangażowanie specjalistów z różnych dziedzin: genetyków, położników, pediatrów, chirurgów plastycznych, ortodontów, logopedów
- Współpraca między ośrodkami badawczymi i klinicznymi
- Dostosowanie programów profilaktycznych do specyfiki danej populacji
- Zapewnienie ciągłości opieki od okresu prenatalnego do dorosłości
- Wsparcie psychologiczne i społeczne dla pacjentów i ich rodzin
Dostępne dowody sugerują, że istnieje silny związek między pozytywnymi wynikami leczenia a dostępnością scentralizowanej opieki świadczonej przez wysokiej jakości, dedykowany zespół specjalistów.2740
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Materiały źródłowe
- #1 Azthena logo with the word Azthenahttps://www.news-medical.net/health/Prevention-of-cleft-lip-and-palate.aspx
In most cases cleft lip and palate is an inherited condition. There is really nothing parents can do in such cases to prevent cleft lip and palate from forming in their babies. […] However, there are steps a woman can take to reduce the risk of having a baby with a birth defect like cleft lip and palate. […] Thus all women who may conceive even unplanned are advised to take 400 micrograms of folic acid per day in dietary supplements or foods that are fortified with folic acid. […] The Department of Health recommends all women take a daily supplement of 0.4mg of folic acid before they conceive and for the first 12 weeks of pregnancy. […] A recently reported study of 11,000 babies born in Ireland showed that mothers who did not take folic acid in the first three months of pregnancy were four times more at risk of giving birth to babies with cleft lip and palates compared to mothers who did take the supplements.
- #2 Cleft lip and cleft palate | March of Dimeshttps://www.marchofdimes.org/find-support/topics/birth/cleft-lip-and-cleft-palate
Take a multivitamin with folic acid in it each day to help prevent cleft lip and cleft palate in your baby. […] You cant always prevent cleft lip and cleft palate in your baby. But there are things you can do to help reduce your babys chances of having these birth defects: […] Take folic acid. Before pregnancy, take a multivitamin with 400 micrograms of folic acid in it every day. During pregnancy, take a prenatal vitamin with 600 micrograms of folic acid in it every day. […] Dont smoke or drink alcohol. Alcohol includes beer, wine and liquor. […] Get a preconception checkup. This is a medical checkup you get before pregnancy to help make sure youre healthy when you get pregnant. […] Get to a healthy weight before pregnancy and talk to your provider about gaining a healthy amount of weight during pregnancy.
- #3https://www.who.int/news-room/fact-sheets/detail/oral-health
Orofacial clefts, the most common of craniofacial birth defects, have a global prevalence of between 1 in 1000-1500 births, with wide variation in different studies and populations. Genetic predisposition is a major cause. However, poor maternal nutrition, tobacco consumption, alcohol and obesity during pregnancy also play a role. If lip and palate clefts are properly treated by surgery, complete rehabilitation is possible. […] The burden of oral diseases and other noncommunicable diseases can be reduced through public health interventions by addressing common risk factors. […] Adequate exposure to fluoride is an essential factor in the prevention of dental caries. […] Twice-daily tooth brushing with fluoride-containing toothpaste (1000 to 1500 ppm) should be encouraged.
- #4 Use of folic acid supplements and risk of cleft lip and palate in infants: a population-based cohort study – PubMedhttps://pubmed.ncbi.nlm.nih.gov/22781994/
Orofacial clefts occur when the lips or the roof of the mouth do not fuse properly during the early weeks of pregnancy. There is strong evidence that periconceptional use of folic acid can prevent neural tube defects but its effect on oral clefts has generated debate. […] These findings support the hypothesis that taking folic acid may partially prevent cleft lip and palate. They are particularly relevant for GPs, because they are usually the first port of call for women before and during early pregnancy.
- #5 Use of folic acid supplements and risk of cleft lip and palate in infants: a population-based cohort study | British Journal of General Practicehttps://bjgp.org/content/62/600/e466
Orofacial clefts occur when the lips or the roof of the mouth do not fuse properly during the early weeks of pregnancy. There is strong evidence that periconceptional use of folic acid can prevent neural tube defects but its effect on oral clefts has generated debate. […] These findings support the hypothesis that taking folic acid may partially prevent cleft lip and palate. […] Women of childbearing age are advised to take an additional 400 g of folic acid daily if there is any possibility of them becoming pregnant, and to continue this for the first 12 weeks of pregnancy. […] Taking folic acid 4 weeks before, and for the first 12 weeks during, pregnancy can prevent neural tube defects. A recent Cochrane review concluded that there was no statistically significant evidence of any effect of folic acid in the prevention of oral clefts. However, this study supports the hypothesis that folic acid taken in the first 12 weeks of pregnancy may significantly reduce the prevalence of cleft lip and palate. […] This study supports the hypothesis that folic acid supplements play a significant role in preventing cleft lip and palate when taken in the first 12 weeks of pregnancy.
- #6 Cleft lip and cleft palate awareness and prevention month | March of Dimeshttps://www.marchofdimes.org/find-support/blog/cleft-lip-and-cleft-palate-awareness-and-prevention-month
Cleft lip and cleft palate happen when a babys lip or mouth doesnt form completely during pregnancy. Cleft lip and cleft palate are birth defects. […] Risk factors include: Having a family history of cleft lip and cleft palate, Smoking or drinking alcohol during pregnancy, Having diabetes before pregnancy, Taking certain anti-seizure medicines during the first trimester of pregnancy, like topiramate or valproic acid, Being obese during pregnancy, Having certain infections during pregnancy, like rubella (also called German measles). […] Heres what you can do to reduce your babys risk: Take folic acid. Folic acid is a B vitamin that can help prevent certain birth defects in your baby. Before pregnancy, take a vitamin supplement with 400 micrograms of folic acid in it every day. During pregnancy, take a prenatal vitamin with 600 micrograms of folic acid in it every day.
- #7https://www.cleftprevention.org/learn/research/
Similarly, in a large population-based case control study in the California population, we showed that periconceptional use of at least 0.4 mg folic acid reduced the occurrence risk for cleft lip and palate by 27-50% (Shaw, Lammer, Wasserman, OMalley, and Tolarova 1995). […] A number of nutritional studies also identified other components of mothers diet that are important during her pregnancy: vitamins B12 and B6, Zinc. […] Other studies were done in countries around the world. It was found that prevention programs need to be developed specifically for a location and ethnicity of the population.
- #8 Oral cleft prevention program (OCPP) | BMC Pediatrics | Full Texthttps://bmcpediatr.biomedcentral.com/articles/10.1186/1471-2431-12-184
The costs related to oral clefts are high, including long term psychological and socio-economic effects. This study provides an opportunity for huge savings in not only money but the overall quality of life. This may help establish more specific clinical guidelines for oral cleft prevention so that the intervention can be better tailored for at-risk women. […] An effect of vitamin supplementation on the incidence of cleft lip and palate has been hypothesized for over 40 years. […] These studies strongly support further investigations of the role of vitamins and other environmental components in clefting and compel the determination as to whether interventional strategies can result in decreases. […] Several case-control observational studies have reported a protective effect of periconceptional use of multivitamins and folic acid on occurrence of clefts. […] The estimated decrease in CL/P risk with supplements containing folic acid has ranged from 18% to 50%.
- #9 Pediatric Cleft Lip and Palate Treatment & Management: Approach Considerations, Medical Therapy, Surgical Therapyhttps://emedicine.medscape.com/article/995535-treatment
A comparison group, comprising 1901 women at risk for giving birth to a child with CL/P, received no supplementation and gave birth within the same period as the study group. […] In the supplemented group, three of 214 informative pregnancies resulted in neonates with CL/P, a 65.4% decrease from the expected value. […] Similarly, a large population-based case control study of fetuses and live-born infants in the 1987-1989 cohort of births in California reported that periconceptional use of multivitamins, which usually contain 0.4 mg or more of folic acid, reduced the occurrence of CL/P by approximately 27-50%. […] In contrast, a study completed by Hayes et al did not support a protective association between the periconceptional folic acid supplementation and the risk of oral cleft. […] However, the most interesting results supporting high-dose folic acid in the prevention of nonsyndromic clefts were those of Czeizel et al in the Hungarian Case-Control Surveillance of Congenital Anomalies.
- #9 Pediatric Cleft Lip and Palate Treatment & Management: Approach Considerations, Medical Therapy, Surgical Therapyhttps://emedicine.medscape.com/article/995535-treatment
Research on the association between orofacial clefts and folic acid consumption strongly suggested that a certain proportion of these serious anomalies can be prevented by periconceptional supplementation with folic acid and multivitamins. The preventive approach is assumed to be especially successful in those situations where environmental factors represent a substantial part of the etiologic background. […] Primary prevention (ie, prevention of a birth defect before it develops in the embryo or fetus) is attempted for prevention of recurrences in at-risk families to which a previous baby with the anomaly has been born; it is also applicable in the general population for prevention of occurrences. […] Nonetheless, prevention of congenital anomalies seemed impossible to realize as the ultimate goal of teratology until a double-blind multicenter randomized controlled trial sponsored by the British Medical Research Council (MRC) showed a 72% decrease in the recurrence of NTDs when women ingested folic acid 4 mg/day from the day of randomization before conception and for 12 weeks thereafter.
- #10 Oral cleft prevention program (OCPP) | BMC Pediatrics | Full Texthttps://bmcpediatr.biomedcentral.com/articles/10.1186/1471-2431-12-184
Folic acid fortification of grain and flour given the strong evidence for a preventive effect of folic acid on neural tube defects (NTDs). […] Unlike the case for NTDs, there is no converging evidence for significant changes in birth prevalence for oral clefts post folic acid fortification. […] The results of these studies are suggestive of potential preventive effects of high dose folic acid on cleft recurrence. […] The NTD model showing preventive effects of high and low dose folic acid on recurrence and occurrence respectively, and the suggestive results from interventional studies and observational studies for preventive effects of high doses on recurrence and occurrence of oral clefts strongly indicate that large doses of folic acid are best suited for evaluation in randomized clinical trials of recurrence.
- #11 Pediatric Cleft Lip and Palate Treatment & Management: Approach Considerations, Medical Therapy, Surgical Therapyhttps://emedicine.medscape.com/article/995535-treatment
However, prophylactic multivitamin therapy, including folic acid, was first used to prevent a CLP anomaly in future offspring of women whose first child had CL/P. […] On the basis of these study results, Burian (of the Czechoslovak Academy of Sciences in Prague) initiated a study in which women who had given birth to a child with an orofacial cleft began taking the multivitamin supplement preparation Spofavit (vitamins A, B1, B2, B6, C, D3, and E; nicotinamide; and calcium pathothenicum) either immediately after a subsequent pregnancy was confirmed or periconceptionally when pregnancy had been planned. […] In a nonrandomized prospective interventional study from the Czech Republic, including 221 pregnancies in women at risk for a child with CL/P, a dramatic reduction of cleft recurrences was found after periconceptional supplementation with Spofavit and high-dose folic acid (10 mg/day).
- #12 Oral cleft prevention program (OCPP) | BMC Pediatrics | Full Texthttps://bmcpediatr.biomedcentral.com/articles/10.1186/1471-2431-12-184
Oral clefts are one of the most common birth defects with significant medical, psychosocial, and economic ramifications. Oral clefts have a complex etiology with genetic and environmental risk factors. There are suggestive results for decreased risks of cleft occurrence and recurrence with folic acid supplements taken at preconception and during pregnancy with a stronger evidence for higher than lower doses in preventing recurrence. […] Given the substantial burden of clefting on the individual and the family and the supportive data for the effectiveness of folic acid supplementation as well as its low cost, a randomized clinical trial of the effectiveness of high versus low dose folic acid for prevention of cleft recurrence is warranted. […] This study will assess the effect of 4 mg and 0.4 mg doses of folic acid, taken on a daily basis during preconception and up to 3 months of pregnancy by women who are at risk of having a child with nonsyndromic cleft lip with/without palate (NSCL/P), on the recurrence of NSCL/P. […] The study will also compare the recurrence rates of NSCL/P in the total sample of subjects, as well as the two study groups (4mg, 0.4 mg) to that of a historical control group.
- #13 Azthena logo with the word Azthenahttps://www.news-medical.net/health/Prevention-of-cleft-lip-and-palate.aspx
Pregnant mothers are advised to avoid smoking and passive exposure to smoke during pregnancy. They are advised a healthy lifestyle and avoid smoking and drinking alcohol. […] Pregnant mothers with epilepsy need to anti-seizure drugs. These also raise the risk of cleft lips and palates. Combining two or more anticonvulsants increases the risk even more. […] Under medical supervision it may be possible to reduce the number of medicines and the risk.
- #14 Cleft Palate and Cleft Lip Difference, Causes, Treatmenthttps://www.medicinenet.com/cleft_palate_and_cleft_lip/article.htm
Is it possible to prevent a cleft lip or cleft palate? […] The large majority of infants experiencing cleft lip or cleft palate do not have a genetic predisposition or obvious risk factors. During pregnancy, some issues may increase the likelihood of producing a newborn with cleft lip and/or cleft palate. These may include the following: Certain medications to help prevent maternal seizures or migraine headaches (for example, topiramate [Topamax]) […] Certain medications that are used as cancer chemotherapy (including methotrexate [Rheumatrex, Trexall]) […] Smoking cigarettes (no information yet regarding e-cigarettes) […] Alcohol consumption […] Lack of folic acid supplementation before conception and throughout the pregnancy.
- #15 Cleft lip and cleft palate | March of Dimeshttps://www.marchofdimes.org/find-support/topics/birth/cleft-lip-and-cleft-palate
Talk to your provider to make sure any medicine you take is safe during pregnancy. You may need to stop taking a medicine or switch to one thats safer during pregnancy. Dont stop taking any medicine without talking to your provider first. […] When you do get pregnant, get early and regular prenatal care. Prenatal care is medical care you get during pregnancy.
- #16 Cleft lip and cleft palate awareness and prevention month | March of Dimeshttps://www.marchofdimes.org/find-support/blog/cleft-lip-and-cleft-palate-awareness-and-prevention-month
Get a preconception checkup. This is a checkup you get before pregnancy to help make sure you’re healthy when you get pregnant. […] Get to a healthy weight before pregnancy and talk to your provider about gaining the right amount of weight during pregnancy. […] Talk to your provider to make sure any medicine you take is safe during pregnancy. Dont stop taking any medicine without talking to your provider first. […] Get early and regular prenatal care. This is medical care you get during pregnancy to make sure you and your baby are doing well. […] Protect yourself from infections. Make sure all your vaccinations are up to date, especially for rubella (also called German measles). Wash your hands often.
- #17 Cleft Lip and Palate in Childrenhttps://phoenixchildrens.staywellsolutionsonline.com/Search/90,P01847
Cleft lip and cleft palate can’t always be prevented. But there are things you can do to reduce the risk. They include: […] Get a pre-pregnancy exam to make sure you are healthy before you get pregnant. […] Get regular and complete prenatal care during pregnancy. […] Take folic acid if you are trying to get pregnant. […] Take daily prenatal vitamins that include folic acid during pregnancy. […] Don’t smoke. Ask your healthcare provider for help quitting if needed. […] Don’t drink alcohol during pregnancy. […] Think about getting genetic counseling if other members of your family have had cleft lip and palate.
- #18 Cleft lip and cleft palate – Symptoms and causes – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/cleft-palate/symptoms-causes/syc-20370985
Cleft lip and cleft palate occur when tissues in the baby’s face and mouth don’t come together properly before birth. Usually, the tissues that make up the lip and palate come together in the first few weeks of pregnancy. But in babies with cleft lip and cleft palate, they never come together or only come together partway, leaving an opening. […] After a baby is born with a cleft, parents could be concerned about whether they’ll have another child with the same condition. While many cases of cleft lip and cleft palate can’t be prevented, think about these steps to lower your risk: […] Consider genetic counseling. If you have a family history of cleft lip and cleft palate, tell your healthcare professional before you become pregnant. Your healthcare professional may refer you to a genetic counselor who can help figure out your risk of having children with cleft lip and cleft palate.
- #19 Cleft Lip and Palate: Symptoms & Causes | NewYork-Presbyterianhttps://www.nyp.org/pediatrics/craniofacial-centers/cleft-lip-palate
There are currently no known ways to prevent a cleft lip and/or cleft palate. People with a family history of the condition and people with diabetes may want to discuss their risk with a genetic counselor and a doctor before getting pregnant. […] Avoiding smoking during pregnancy can reduce the risk of having a baby with the condition. […] Genetic counseling may help people with a family history of the condition understand the risk of the condition to their child and treatment options. […] People with diabetes who consider getting pregnant can discuss the risk to the child with their doctor. […] People who are pregnant or considering getting pregnant and are taking certain medicines that can increase the risk for the condition should consider discussing alternative medicines with their doctor. […] Maintaining a healthy weight.
- #20 Cleft lip and cleft palate: Causes, treatment, and speechhttps://www.medicalnewstoday.com/articles/164660
There is no way to prevent a cleft palate, but avoiding alcohol and tobacco during pregnancy may help reduce the chance of a cleft and other health problems. A person should check with a physician before taking any medications during pregnancy. […] If one or more close relatives were born with a cleft, parents may wish to seek genetic counseling before pregnancy to help them to understand the likelihood of it affecting the baby. The parents of a child with a cleft may be interested in receiving genetic counseling before trying for another child.
- #21 Cleft lip and palate primary prevention – wikidochttps://www.wikidoc.org/index.php/Cleft_lip_and_palate_primary_prevention
While many cases of cleft lip and cleft palate are unpredictable, you can take steps to understand or lower your risk: […] Genetic counseling: A genetic testing can tell you how much a history of clefting in both your families increases your risk, as well as how blood or DNA samples can test for chromosomal syndromes. […] Taking prenatal vitamins: Some researches demonstrate that lack of folic acid or certain other vitamins may be related to some cases of cleft lip and cleft palate. Taking a prenatal multivitamin may decrease the risk of having a cleft lip and palate baby.
- #22 How to prevent cleft lip and palate preventionhttps://www.medic8.com/healthguide/articles/cleftlip/cleftlip-prevent.html
Having your child diagnosed with cleft lip and palate can be a devastating time. As a parent you will question what could have been done to prevent this from happening and may be inclined to place some of the blame upon yourself. But by acting now you can work to lessen the chances of this condition affecting your child by taking the necessary steps. Nevertheless, this is a condition that is still not fully understood in terms of its causes and it can be difficult to know just what you can do to ensure your baby is healthy. But by following the simple steps and advice set out below you can take a step closer to having a healthy baby. […] In some cases there is not much, if anything, you can do to prevent your child from developing this condition. If you have already had a child who has cleft lip and palate, then the chances of any other children you conceive having the condition increase. Nonetheless, there are still steps you can take to help prevent the condition from developing:
- #23 Causes of Cleft Lip & Palate – Department of Pediatricshttps://med.virginia.edu/pediatrics/clinical-and-patient-services/patient-tutorials/cleft-lip-palate/causes-of-cleft-lip-palate/
Good prenatal care is one of the best ways to increase the chances of giving birth to a healthy baby. […] Major issues in prevention of cleft palates are: public education about possible environmental and genetic dangers to children, increased access to prenatal care for mothers, efforts to decrease teen pregnancies. […] Women older than 35 must be counseled regarding the maternal age risk factors because older women are more likely to give birth to a child with a birth defect. Also, families with a history of cleft palates should seek genetic counseling to determine their relative risks for giving birth to a child with a cleft palate.
- #24 Pediatric Cleft Lip and Palate: Practice Essentials, Pathophysiology, Etiologyhttps://emedicine.medscape.com/article/995535-overview
The correct diagnosis of a cleft anomaly is fundamental for treatment, for further genetic and etiopathologic studies, and for preventive measures correctly targeting the category of preventable orofacial clefts. […] A higher proportion of environmental factors indicates a lower risk of recurrence and also provides a better chance to act preventively, given that the only modifiable etiologic factors are environmental factors. Thus, the subgroup whose average prevalence is closest to the population average consists of males affected with a unilateral CL/P. This subgroup is most common among orofacial clefts; the risk of recurrence for siblings and for offspring of an individual with cleft is the lowest, the value of heritability is the lowest, and the efficacy of primary prevention is the highest (see Treatment, Prevention).
- #25 Pediatric Cleft Lip and Palate: Practice Essentials, Pathophysiology, Etiologyhttps://emedicine.medscape.com/article/995535-overview
The identification of factors that contribute to the etiology of nonsyndromic CL/P is important for prevention, treatment planning, and education. With an increasing number of couples who seek genetic counseling as a part of their family planning, the knowledge of how specific genes contribute to formation of nonsyndromic CL/P has gained an increased importance. […] Tolarova M. Periconceptional supplementation with vitamins and folic acid to prevent recurrence of cleft lip. Lancet. 1982 Jul 24. 2 (8291):217. […] Shaw GM, Lammer EJ, Wasserman CR, O’Malley CD, Tolarova MM. Risks of orofacial clefts in children born to women using multivitamins containing folic acid periconceptionally. Lancet. 1995 Aug 12. 346 (8972):393-6. […] Hayes C, Werler MM, Willett WC, Mitchell AA. Case-control study of periconceptional folic acid supplementation and oral clefts. Am J Epidemiol. 1996 Jun 15. 143 (12):1229-34. […] Czeizel AE, Tth M, Rockenbauer M. Population-based case control study of folic acid supplementation during pregnancy. Teratology. 1996 Jun. 53 (6):345-51. […] Czeizel A. Periconceptional multivitamin supplementation and nonneural midline defects. Am J Med Genet. 1993 Jun 15. 46 (5):611.
- #26https://www.cleftprevention.org/learn/research/
Pediatrician from Cincinnati, Josef Warkany was among the first to find in animal experiments in 1940s that malnutrition of mother, lacking B vitamins, may lead to development of birth defects in offspring. […] In 1950s, three plastic surgeons in the USA (L. E. Peer, B. Douglas, and H. Conway) who did repairs of clefts, started giving vitamins, including folic acid, to women in the beginning of their next pregnancy following a birth of a child with a cleft to prevent recurrence of cleft. […] Now we know why they were not successful vitamins and folic acid were given too late after the face of the embryo had been already formed. […] In a large non-randomized interventional clinical trial on a sample of the Czech population we showed that periconceptional daily supplementation with multivitamins and 10 mg of folic acid reduced the recurrence risk for cleft lip and palate by about 65 % (Tolarova 1982, Tolarova and Harris 1995).
- #27 Cleft Lip and Palate: Etiology, Epidemiology, Preventive and Intehttps://www.longdom.org/open-access/cleft-lip-and-palate-etiology-epidemiology-preventive-and-intervention-strategies-21245.html
Several epidemiological and observational reports have indicated a protective effect of prenatal use of multivitamins and folic acid on incidence of clefts. A decrease in CL/P risk with supplements containing folic acid has ranged from 18% to 50% in humans and from 69% to 76% in experimental animals. […] Treatment of CL/P is complex in nature. It requires an extreme multidisciplinary collaboration committed to managing the patient from birth to maturity. […] The available evidence suggests that there is a strong relationship between positive treatment outcome and the availability of centralized care by a high quality dedicated team. […] In developing parts of the world, management of OFC patients exemplifies the health disparities and inequality. […] Cleft lip and cleft palate can have a significant impact on the health economics of countries around the world.
- #28 Prophylactic Antibiotics After Cleft Lip and Palate Reconstruction: A Review From a Global Health Perspectivehttps://pmc.ncbi.nlm.nih.gov/articles/PMC10113116/
Orofacial clefts are common congenital deformities. […] There is no consensus on the use of postoperative prophylactic antibiotics. […] We cannot make any strong evidence-based recommendations on prescribing postoperative antibiotics; however, we recommend that each cleft surgeon performing these procedures in lower-income countries without access to tertiary care centers consider the cost-benefit analysis of prescribing antimicrobials postoperatively, without antimicrobial screening, which showed no benefit. […] However, there are no formal guidelines regarding the use of postoperative prophylactic antibiotics in cleft lip or palate surgery. […] We cannot make any strong data-driven recommendations on antimicrobials after cleft surgery. […] However, we advise that cleft surgeons practicing in resource-poor areas of the world with challenges as previously discussed consider the cost-benefit analysis of implementing a prophylactic antibiotic regimen without microbiological screening, which was not shown to provide any benefit.
- #29 Prophylactic Antibiotics After Cleft Lip and Palate Reconstruction: A Review From a Global Health Perspectivehttps://pmc.ncbi.nlm.nih.gov/articles/PMC10113116/
Based on limited available data, we cannot make any recommendations on prophylactic antibiotic use; however, we advise cleft surgeons performing cleft lip and palate surgery in lower-income countries to consider prescribing antimicrobials postoperatively, without the use of antimicrobial screening which showed no benefit.
- #30 Cleft Lip and Palate: Etiology, Epidemiology, Preventive and Intehttps://www.longdom.org/open-access/cleft-lip-and-palate-etiology-epidemiology-preventive-and-intervention-strategies-21245.html
The Disability-adjusted life years (DALYs) debuted by the World Development Report have become the health metric of choice used to measure the mortality and physical impairment associated with an illness. […] In conclusion, OFCs impact a considerable proportion of the global society. It affects around 1.5 per 1,000 live births (about 220,000 new cases per year), with wide variation across geographic areas and ethnic groups, with substantial evidence of both health inequality and inequity.
- #31 Cleft Lip and Palate: Etiology, Epidemiology, Preventive and Intehttps://www.longdom.org/open-access/cleft-lip-and-palate-etiology-epidemiology-preventive-and-intervention-strategies-21245.html
Cleft lip and palate represent a major public health problem due to the possible associated life-long morbidity, complex etiology, and the extensive multidisciplinary commitment required for intervention. […] Optimal and early surgical intervention is necessary and folic acid supplementation proved to be a highly efficient preventive strategy. […] Prevention should be considered the ultimate objective for OFCs. Extensive research on the exact etiology, successful implementation of prenatal vitamins and folic acid preventive strategies, together with improvements in surgical procedures, dental and orthodontic interventions, speech pathology, social and psychological support, pediatric care, and all other fields involved in the care of the child with OFC provides a hope for a better quality of care for those children.
- #32 Cleft Lip and Palate – MN Dept. of Healthhttps://www.health.state.mn.us/diseases/cy/cleftlippalate.html
Maternal smoking, alcohol use and folic acid deficiency can be associated with the development of cleft lip and palate in the fetus. […] Medications that treat a mother’s seizure disorder may also be linked to development of this congenital defect. […] Parental education and support are essential, and local, regional, and national organizations may be very helpful.
- #33 You Can Help Prevent Cleft Lip and Palate!https://www.cleftprevention.org/
There is enough scientific evidence strongly suggesting that many cleft lip and palate anomalies can be prevented! […] Together, we can help prevent cleft lip and palate. […] Cleft Prevention International Foundation is an international organization with a mission of preventing cleft lip and palate worldwide through education and research. […] Learn more about cleft lip and palate and prevention from leading scientists in the field. […] There are many ways you can support our mission toward prevention of cleft lip and palate.
- #34 Pediatric Cleft Lip and Palate Treatment & Management: Approach Considerations, Medical Therapy, Surgical Therapyhttps://emedicine.medscape.com/article/995535-treatment
A subsequent article by Czeizel discussed these two controversial findings and suggested a dose-dependent effect of folic acid in the prevention of orofacial clefts. […] Further information regarding the prevention of CL and CP is available from the Cleft Prevention International Foundation (CPIF).
- #35 Researchers are finding more genes directly associated with cleft lip and palate | Iowa Now – The University of Iowahttps://now.uiowa.edu/news/2023/01/researchers-are-finding-more-genes-directly-associated-cleft-lip-and-palate
Cleft lip and cleft palate are birth defects that occur when a babys lip or mouth do not form properly during pregnancy. […] The families who generously enrolled in this study were hopeful that this work would someday lead to improved prevention or treatment of cleft lip/palate, Murray says, and this work is a landmark step in that direction. […] Eventually, if you know the genetics behind cleft lip and palate, and the step-by-step process of how you build a face, then you might figure out how to intervene to prevent the defect.
- #36 Cleft Lip and Palate | UCLA Medical Schoolhttps://medschool.ucla.edu/news-article/cleft-lip-and-palate
Some, but not all, cleft lip or cleft palate cases have genetic causes, such as underlying syndromes including Van der Woude syndrome or Stickler syndrome. […] As the causes of cleft lip and palate are often uncertain, definitive prevention measures are also uncertain. […] We can’t say for certain that avoiding things like maternal smoking or alcohol consumption will prevent clefting, Dr. Lee says. But in terms of the overall health of expectant mothers and their babies, it’s always a good idea to avoid potentially harmful substances and behaviors and to get proper prenatal care.
- #37 Research on Cleft Lip and Palate – Seattle Children’shttps://www.seattlechildrens.org/clinics/craniofacial/research-and-clinical-trials/cleft-lip-and-palate/
Dr. Kai Yu uses mouse models and advanced 3-D imaging to understand how the palate forms. […] Past research has shown that children with clefts are more likely to have learning problems in school than their classmates. Drs. Collett and Gallagher want to know what might cause these problems and what can be done to prevent them. They are studying ways parents can use reading to improve their childrens speech and language skills.
- #38 Cleft Lip and Cleft Palate: FAQ | Cedars-Sinaihttps://www.cedars-sinai.org/blog/cleft-lip-cleft-palate-faq.html
Cleft lip and cleft palate are among the most common birth defects in the U.S., affecting about one in every 700 babies. […] According to the CDC, the following factors may increase the risk of having a baby with a cleft lip and cleft palate: Smoking during pregnancy, A diabetes diagnosis before pregnancy, Nutrient deficiencies, such as insufficient folic acid, during pregnancy, Using anti-seizure medications, Accutane (for acne) or methotrexate (for cancer, arthritis and psoriasis) during the first trimester. […] „Thats why its important for these kids to have a multidisciplinary team of experts that follows them throughout their development,” Dr. Chien says. […] With a dedicated healthcare team, including ear, nose and throat specialists, plastic surgeons, oral surgeons, speech pathologists, audiologists, orthodontists, psychologists and social workers, children with cleft lip and/or cleft palate are well positioned to grow and thrive.
- #39https://www.shrinerschildrens.org/en/news-and-media/patient-stories/2022/07/charlie-gail-cleft-story
July marks Cleft and Craniofacial Awareness and Prevention Month, which is dedicated to educating families about cleft lip and palate, and other common craniofacial conditions that can occur within the first three months of pregnancy. […] Start assembling your team and meet with them so you know what to expect. […] Make sure your primary care doctor or pediatrician is familiar with CLP, and then look for specialists for plastic surgery, feeding, speech therapy, dentistry and orthodontics. […] Also, make your mental health a priority! Taking care of you as mom, dad or caregiver is just as important. […] Multiple Shriners Children’s locations offer treatment for cleft lip and/or cleft palate. Please refer to the the location lists on the care detail pages for more information. […] Shriners Childrens provides world-class craniofacial care. We are proud that multiple Shriners Childrens locations are American Cleft Palate Craniofacial Association approved teams and our plastic surgeons have undergone additional training to specifically care for children.
- #40 Adventist Health White Memorial Cleft Palate Programhttps://www.adventisthealth.org/white-memorial/services/cleft-palate-program/
Cleft lip and palate are fissures in the upper lip and palate (the bony plate at the roof of the mouth). They often occur together and are caused by incomplete closing of the two sides of the face in the developing embryo. […] The malformation can only be treated with surgery and therapy. If left untreated, children with cleft lip and palate can suffer life-long handicaps including severe facial deformities, chronic dental and hearing problems, malnutrition and even social problems. […] Our cleft palate program is CCS-approved for the child’s total cleft palate care. We maintain a comprehensive affiliation with Loma Linda University and allied health/specialist affiliations with USC, UCLA, CSUN and CSULA. […] Our program provides coordinated cleft team care at a single location, working side by side with the patient’s own pediatrician or primary care physician. This program is an important service to the community and depends on financial gifts from generous donors for continuity. We also accept all types of insurance, including CCS, Medi-Cal, HMOs, Regional Center funding and private insurance.