Rozszczep wargi i podniebienia
Diagnostyka i diagnoza
Rozszczep wargi i podniebienia to jedna z najczęstszych wad wrodzonych twarzoczaszki, występująca z częstością około 1 na 700-1000 żywych urodzeń. Diagnostyka prenatalna, głównie za pomocą ultrasonografii 2D, 3D i 4D, pozwala na wykrycie około 81% przypadków rozszczepu wargi już około 20. tygodnia ciąży, a nawet od 13. tygodnia, natomiast izolowany rozszczep podniebienia jest trudniejszy do zdiagnozowania prenatalnie ze względu na ograniczenia obrazowania wnętrza jamy ustnej płodu. W przypadku podejrzenia rozszczepu zalecane są dodatkowe badania, takie jak amniocenteza, MRI prenatalne oraz konsultacje genetyczne, zwłaszcza w kontekście zespołów genetycznych (np. zespół Pierre’a Robina, Sticklera, van der Woude, DiGeorge’a). Po urodzeniu rozszczep wargi jest zwykle rozpoznawany na podstawie badania fizykalnego, natomiast rozszczep podniebienia wymaga dokładnej oceny jamy ustnej noworodka, w tym uwzględnienia trudnych do wykrycia form podśluzówkowych.
- Diagnostyka rozszczepu wargi i podniebienia
- Diagnostyka prenatalna
- Badania dodatkowe w diagnostyce prenatalnej
- Diagnostyka po urodzeniu
- Klasyfikacja rozszczepów w celach diagnostycznych
- Diagnostyka różnicowa i badania dodatkowe
- Ocena mowy i funkcji podniebienno-gardłowej
- Diagnostyka problemów ze słuchem
- Planowanie leczenia po diagnozie
- Multidyscyplinarny zespół ds. leczenia rozszczepu
- Harmonogram leczenia chirurgicznego
- Monitorowanie i długotrwała opieka
- Współistniejące problemy wymagające diagnostyki i leczenia
- Współczesne metody diagnostyczne
- Zaawansowane techniki ultrasonograficzne
- Rezonans magnetyczny płodu
- Badania molekularne i genetyczne
- Specjalistyczne metody diagnostyki funkcji podniebienia
- Wyzwania w diagnostyce rozszczepu wargi i podniebienia
- Ograniczenia diagnostyki prenatalnej
- Trudności w diagnostyce poporodowej
- Diagnostyka różnicowa zespołów z rozszczepem
- Znaczenie wczesnej i dokładnej diagnostyki
Diagnostyka rozszczepu wargi i podniebienia
Rozszczep wargi i podniebienia to jedna z najczęstszych wad wrodzonych twarzoczaszki, występująca z częstością około 1 na 700-1000 żywych urodzeń. Diagnostyka tej wady może odbywać się zarówno w okresie prenatalnym, jak i po urodzeniu dziecka, co ma kluczowe znaczenie dla wczesnego zaplanowania kompleksowego leczenia.123
Diagnostyka prenatalna
Rozszczep wargi jest obecnie coraz częściej diagnozowany w okresie prenatalnym dzięki rutynowym badaniom ultrasonograficznym. Według najnowszych statystyk, około 81% przypadków rozszczepu wargi jest wykrywanych przed urodzeniem, najczęściej podczas rutynowego badania USG anatomicznego wykonanego około 20. tygodnia ciąży.12 Diagnostyka prenatalna pozwala rodzicom na wcześniejsze zrozumienie natury wady i przygotowanie się do opieki nad noworodkiem z rozszczepem.3
Techniki ultrasonograficzne umożliwiają wykrycie rozszczepu wargi już od około 13. tygodnia ciąży, przy czym dokładność diagnozy wzrasta wraz z zaawansowaniem ciąży. Nowsze techniki trójwymiarowego USG (3D) mogą umożliwić jeszcze wcześniejsze rozpoznanie.12 W przypadku wykrycia rozszczepu wargi, lekarze zazwyczaj koncentrują się na dokładniejszej ocenie, aby określić jego typ i zakres.3
Rozszczep podniebienia występujący samodzielnie (tzw. izolowany rozszczep podniebienia) jest znacznie trudniejszy do wykrycia w badaniach prenatalnych z uwagi na ograniczoną możliwość obrazowania wnętrza jamy ustnej płodu.12 Standardowe badanie USG zazwyczaj nie pozwala na jednoznaczne zdiagnozowanie rozszczepu podniebienia, choć w niektórych przypadkach zaawansowane techniki obrazowania, takie jak MRI prenatalne, mogą pomóc w jego wizualizacji.1
W przypadku prenatalnej diagnozy rozszczepu wargi i/lub podniebienia, rodzice powinni być skierowani do specjalistycznego zespołu ds. leczenia rozszczepu, który zapewni:12
- Konsultację z zespołem specjalistów zajmujących się leczeniem rozszczepów
- Informacje o możliwościach leczenia i opiece nad dzieckiem z rozszczepem
- Wsparcie psychologiczne
- Poradnictwo genetyczne
Badania dodatkowe w diagnostyce prenatalnej
W przypadku wykrycia rozszczepu wargi i/lub podniebienia w badaniu USG, lekarz może zalecić dodatkowe badania diagnostyczne:1
- Amniocenteza – badanie płynu owodniowego, które może pomóc w wykryciu zespołów genetycznych związanych z rozszczepem
- Badanie MRI płodu – umożliwia dokładniejszą ocenę struktur podniebienia i wykrycie ewentualnych innych wad rozwojowych
- Konsultacja genetyczna – zalecana szczególnie w przypadku występowania rozszczepu w rodzinie lub podejrzenia zespołu genetycznego
Dokładność diagnostyki prenatalnej zależy od wielu czynników, w tym od:1
- Doświadczenia i umiejętności osoby wykonującej badanie
- Typu rozszczepu (rozszczep wargi jest łatwiejszy do wykrycia niż izolowany rozszczep podniebienia)
- Budowy ciała matki
- Pozycji płodu podczas badania
- Ilości płynu owodniowego
Diagnostyka po urodzeniu
W przypadku braku diagnozy prenatalnej, rozszczep wargi jest zwykle rozpoznawany zaraz po urodzeniu dziecka ze względu na widoczne zmiany w wyglądzie twarzy noworodka. Nie wymaga to wykonywania dodatkowych badań, gdyż diagnoza jest stawiana na podstawie badania fizykalnego.12
Rozszczep podniebienia jest diagnozowany podczas dokładnego badania jamy ustnej noworodka. Zgodnie ze standardami krajowymi, rozszczep podniebienia powinien być zdiagnozowany w ciągu 48 godzin od urodzenia. Jednak w niektórych przypadkach, zwłaszcza przy mniej widocznych formach rozszczepu (np. rozszczep podśluzówkowy), diagnoza może być opóźniona.1
Badanie jamy ustnej noworodka w kierunku rozszczepu podniebienia powinno obejmować:1
- Dokładne oglądanie całej jamy ustnej przy użyciu źródła światła
- Naciśnięcie języka w celu uwidocznienia podniebienia miękkiego i twardego
- Ocenę ruchomości podniebienia miękkiego
- Ocenę języczka (uvula)
Szczególną uwagę należy zwrócić na rozszczep podśluzówkowy, który może być trudniejszy do zdiagnozowania, ponieważ śluzówka jamy ustnej pozostaje nienaruszona, a wada dotyczy głębszych struktur podniebienia. W takich przypadkach diagnostycznym sygnałem może być rozszczepiony języczek (bifid uvula) lub zagłębienie na podniebieniu.12
Klasyfikacja rozszczepów w celach diagnostycznych
Dla celów diagnostycznych i planowania leczenia, rozszczepu wargi i podniebienia można klasyfikować według różnych kryteriów:12
- Ze względu na lokalizację:
- Rozszczep wargi (CL)
- Rozszczep podniebienia (CP)
- Rozszczep wargi i podniebienia (CLP)
- Ze względu na stronę (w przypadku rozszczepu wargi):
- Jednostronny (unilateralny) – częściej występujący po lewej stronie
- Obustronny (bilateralny)
- Ze względu na zakres:
- Całkowity
- Częściowy/niecałkowity
- Ze względu na struktury objęte rozszczepem podniebienia:
- Rozszczep podniebienia twardego
- Rozszczep podniebienia miękkiego
- Rozszczep podniebienia twardego i miękkiego
Diagnostyka różnicowa i badania dodatkowe
Po zdiagnozowaniu rozszczepu wargi i/lub podniebienia, ważne jest przeprowadzenie diagnostyki różnicowej w celu wykluczenia lub potwierdzenia istnienia innych wad lub zespołów wad, które mogą towarzyszyć rozszczepowi. Rozszczepu mogą występować jako:1
- Izolowane wady – występujące samodzielnie, bez innych wad rozwojowych
- Składowa zespołów genetycznych – takich jak zespół Pierre’a Robina, zespół Stickler, zespół van der Woude czy zespół DiGeorge’a (delecja 22q11)
W ramach kompleksowej diagnostyki dziecka z rozszczepem wargi i/lub podniebienia należy rozważyć następujące badania:1
- Badania genetyczne – kariotypowanie, diagnostyka molekularna, badania chromosomalne (np. FISH lub array CGH)
- Badania audiologiczne – ze względu na zwiększone ryzyko problemów ze słuchem
- Ocena funkcji żucia i połykania – przez specjalistę logopedę i zespół ds. karmienia
- Badania stomatologiczne i ortodontyczne – ocena rozwoju szczęki i uzębienia
- Ocena drożności dróg oddechowych – szczególnie u dzieci z zespołem Pierre’a Robina
- Badania obrazowe (w wybranych przypadkach) – zdjęcia RTG, tomografia komputerowa, rezonans magnetyczny
Ocena mowy i funkcji podniebienno-gardłowej
Istotnym elementem diagnostyki, szczególnie u starszych dzieci z rozszczepem podniebienia, jest ocena funkcji podniebienno-gardłowej i rozwoju mowy. W tym celu stosuje się różne metody diagnostyczne:1
- Ocena percepcyjna mowy – wykonywana przez logopedę, oceniająca zrozumiałość mowy, artykulację, głos i rezonans
- Nazometria – nieinwazyjne badanie służące do pomiaru nosowości w mowie
- Analiza przepływu ciśnienia – specjalistyczny test mierzący wielkość otwarcia między jamą ustną a nosową podczas mowy
- Nasofiberoskopia – procedura umożliwiająca bezpośrednią ocenę funkcji zamknięcia podniebienno-gardłowego podczas mowy
Diagnostyka problemów ze słuchem
Dzieci z rozszczepem podniebienia są szczególnie narażone na problemy ze słuchem z powodu nieprawidłowej funkcji trąbki słuchowej. Z tego względu niezbędne jest regularne monitorowanie stanu słuchu:1
- Audiometria – badanie oceniające funkcję słuchową
- Tympanometria – badanie oceniające funkcję błony bębenkowej i przestrzeni ucha środkowego
- Badanie odpowiedzi pnia mózgu (ABR) – w wybranych przypadkach
Planowanie leczenia po diagnozie
Po potwierdzeniu diagnozy rozszczepu wargi i/lub podniebienia, kluczowe jest opracowanie kompleksowego planu leczenia, który uwzględnia wszystkie aspekty opieki nad dzieckiem.1
Multidyscyplinarny zespół ds. leczenia rozszczepu
Opieka nad dzieckiem z rozszczepem wargi i/lub podniebienia wymaga współpracy specjalistów z różnych dziedzin w ramach multidyscyplinarnego zespołu ds. leczenia rozszczepu. W skład takiego zespołu mogą wchodzić:1
- Chirurdzy plastyczni i szczękowo-twarzowi
- Otolaryngolodzy (specjaliści od chorób uszu, nosa i gardła)
- Pediatrzy
- Logopedzi
- Audiolodzy
- Stomatolodzy dziecięcy
- Ortodonci
- Genetycy kliniczni
- Psycholodzy
- Pielęgniarki specjalistyczne
- Pracownicy socjalni
- Specjaliści ds. karmienia
Harmonogram leczenia chirurgicznego
Plan leczenia chirurgicznego jest ustalany indywidualnie dla każdego dziecka, w zależności od typu i zakresu rozszczepu. Typowy harmonogram zabiegów chirurgicznych obejmuje:1
- Operacja rozszczepu wargi – zwykle wykonywana między 3. a 6. miesiącem życia
- Operacja rozszczepu podniebienia – zwykle wykonywana między 9. a 18. miesiącem życia (najczęściej około 12. miesiąca), przed rozpoczęciem rozwoju mowy
- Dodatkowe zabiegi chirurgiczne – w zależności od potrzeb, mogą obejmować:
- Faryngoplastykę (przy niewydolności podniebienno-gardłowej)
- Korekcje nosa
- Przeszczepy kostne do wyrostka zębodołowego
- Operacje ortognatyczne (korekcje szczęki i żuchwy)
Monitorowanie i długotrwała opieka
Dziecko z rozszczepem wargi i/lub podniebienia wymaga regularnego monitorowania i długotrwałej opieki specjalistycznej:1
- Regularne wizyty kontrolne w zespole ds. leczenia rozszczepu
- Ocena rozwoju mowy i słuchu
- Monitorowanie wzrostu i rozwoju twarzoczaszki
- Opieka ortodontyczna i stomatologiczna
- Wsparcie psychologiczne
W pierwszym roku życia dziecko może wymagać nawet do 20 wizyt u różnych specjalistów. Po tym okresie, wizyty kontrolne są zazwyczaj planowane co 6-12 miesięcy. Opieka może trwać aż do zakończenia wzrostu twarzoczaszki, czyli do późnego okresu nastoletnego.1
Współistniejące problemy wymagające diagnostyki i leczenia
U dzieci z rozszczepem wargi i/lub podniebienia często występują dodatkowe problemy, które wymagają diagnostyki i odpowiedniego leczenia:1
- Problemy z karmieniem – trudności w ssaniu i połykaniu, które mogą prowadzić do niedożywienia
- Zaburzenia słuchu – nawracające wysiękowe zapalenie ucha środkowego może prowadzić do utraty słuchu
- Zaburzenia mowy – problemy z artykulacją i nosowe brzmienie głosu
- Problemy stomatologiczne – brakujące, zniekształcone lub nieprawidłowo ustawione zęby
- Niewydolność podniebienno-gardłowa – występująca u około 30% dzieci z rozszczepem podniebienia
- Problemy psychospołeczne – związane z wyglądem i trudnościami w komunikacji
Współczesne metody diagnostyczne
Postęp technologiczny w dziedzinie diagnostyki obrazowej znacząco polepszył możliwości wczesnego wykrywania i oceny rozszczepu wargi i podniebienia:1
Zaawansowane techniki ultrasonograficzne
- Ultrasonografia 3D i 4D – pozwala na uzyskanie trójwymiarowych obrazów twarzy płodu, zwiększając dokładność diagnozy rozszczepu wargi
- Metoda kolorowego Dopplera – może być pomocna w uwidocznieniu przepływu przez rozszczep podniebienia
- Obrazowanie koronalne i osiowe – różne płaszczyzny obrazowania zwiększają szansę wykrycia rozszczepu
Rezonans magnetyczny płodu
MRI prenatalne jest cennym uzupełnieniem badania USG, szczególnie w ocenie podniebienia twardego i miękkiego. Jest zwykle zalecane po zdiagnozowaniu rozszczepu wargi w badaniu USG w celu:1
- Dokładniejszej oceny zakresu rozszczepu
- Wykrycia ewentualnych towarzyszących wad rozwojowych
- Oceny struktur mózgowia i twarzoczaszki
Badania molekularne i genetyczne
Nowoczesne metody diagnostyki genetycznej pozwalają na wykrycie podłoża genetycznego rozszczepów oraz związanych z nimi zespołów wad:1
- Analiza chromosomów mikromacierzowych (array CGH)
- Sekwencjonowanie całego eksodmu (WES)
- Ukierunkowane testy genetyczne na znane mutacje związane z rozszczepami
- Techniki FISH (fluorescencyjna hybrydyzacja in situ) – szczególnie przydatne w diagnostyce zespołu DiGeorge’a (delecja 22q11)
Specjalistyczne metody diagnostyki funkcji podniebienia
Do oceny funkcji podniebiennej i podniebienno-gardłowej stosuje się szereg specjalistycznych metod diagnostycznych:1
- Nasofiberoskopia – pozwala na bezpośrednią wizualizację funkcji podniebienia miękkiego podczas mówienia
- Videofluoroskopia – umożliwia dynamiczną ocenę funkcji podniebienia podczas mowy i połykania
- Endoskopia – pozwala na ocenę drożności dróg oddechowych i ocenę funkcji podniebiennej
Wyzwania w diagnostyce rozszczepu wargi i podniebienia
Mimo postępu technologicznego, diagnostyka rozszczepu wargi i podniebienia nadal stanowi wyzwanie w wielu przypadkach:1
Ograniczenia diagnostyki prenatalnej
- Czułość rutynowego badania USG w 20. tygodniu ciąży w wykrywaniu rozszczepów waha się od 16% do 93%, co wskazuje na znaczną zmienność w dokładności diagnozy
- Izolowany rozszczep podniebienia jest trudny do wykrycia w badaniu USG ze względu na ograniczoną możliwość obrazowania wnętrza jamy ustnej płodu
- Rozszczepy podśluzówkowe są praktycznie niemożliwe do zdiagnozowania przed urodzeniem
Trudności w diagnostyce poporodowej
- Rozszczepy podśluzówkowe mogą pozostać niezdiagnozowane przez dłuższy czas, a objawy mogą pojawić się dopiero w momencie rozwoju mowy
- Submukozalny rozszczep podniebienia może być trudny do wykrycia podczas standardowego badania noworodka i wymaga szczególnej uwagi
- Niektóre rozszczepty języczka (rozszczepiony języczek) mogą być przeoczone podczas rutynowego badania
Diagnostyka różnicowa zespołów z rozszczepem
Wyzwaniem jest również odpowiednia diagnostyka różnicowa w celu określenia, czy rozszczep występuje jako izolowana wada czy też jako element zespołu wad. Niektóre zespoły genetyczne związane z rozszczepem mogą nie być łatwe do rozpoznania w okresie noworodkowym, a ich diagnostyka może wymagać specjalistycznych badań genetycznych i konsultacji.1
Znaczenie wczesnej i dokładnej diagnostyki
Wczesna i dokładna diagnostyka rozszczepu wargi i podniebienia ma kluczowe znaczenie dla optymalnych wyników leczenia:1
- Umożliwia odpowiednie przygotowanie rodziców do opieki nad dzieckiem z rozszczepem
- Pozwala na wczesne rozpoczęcie leczenia, co wpływa na lepsze wyniki funkcjonalne i estetyczne
- Umożliwia wczesne wykrycie ewentualnych zespołów genetycznych i związanych z nimi problemów zdrowotnych
- Pozwala na opracowanie kompleksowego, długoterminowego planu leczenia uwzględniającego wszystkie aspekty opieki
- Wpływa na poprawę jakości życia dziecka poprzez wczesne wprowadzenie odpowiednich strategii karmienia, monitorowanie słuchu i rozwoju mowy
Postęp w dziedzinie diagnostyki prenatalnej i poporodowej pozwala na coraz skuteczniejsze wykrywanie i ocenę rozszczepu wargi i podniebienia, co w połączeniu z kompleksowym, multidyscyplinarnym podejściem do leczenia, znacząco poprawia rokowania dla dzieci urodzonych z tą wadą.12
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Materiały źródłowe
- #1 Cleft Lip & Cleft Palate: Causes & Treatmenthttps://my.clevelandclinic.org/health/diseases/10947-cleft-lip-cleft-palate
Cleft lip and cleft palate are separations in the upper lip and mouth that occur while a fetus develops in the uterus. Treating cleft lip and palate involves surgery and may include speech therapy and dental work. Surgery can repair a cleft lip and/or cleft palate. […] Cleft lip and cleft palate are openings in a baby’s upper lip or roof of their mouth (palate). Theyâre congenital abnormalities (birth defects) that form while a fetus develops in the uterus. […] A cleft lip happens when the tissues that make the lips donât join completely. A cleft palate is a split or opening in the roof of your mouth that forms during fetal development. […] Cleft lip and cleft palate can occur on one or both sides of the mouth. […] In most cases, thereâs no known cause of cleft lip or cleft palate, and parents canât prevent it.
- #1 Cleft Lip & Palate Associationhttps://www.clapa.com/treatment/diagnosis-birth/
This section explains a bit more about the diagnosis of a child with a cleft and how this will affect things leading up to (or just after) their birth. […] Based on the most recent statistics compiled by CRANE, around 81% of cleft lips are diagnosed before birth, usually at the 20-week anomaly scan where parents can find out their babyâs gender. […] A cleft palate by itself (called an âisolated cleft palateâ) is almost impossible to pick up before birth through regular scans, and can be easily missed when a baby is born if it is not looked for. Midwives and other health professionals should visually examine the babyâs mouth with a torch by pressing down on the babyâs tongue so the whole of the mouth can be seen. […] National Standards state that a cleft palate should be diagnosed within 48 hours of birth, but some can take days, weeks or even years to be diagnosed.
- #1 Cleft lip and cleft palate – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/cleft-palate/diagnosis-treatment/drc-20370990
Most cases of cleft lip and cleft palate are seen right away at birth, so special tests aren’t needed. Cleft lip and cleft palate are often seen on ultrasound before a baby is born. […] Healthcare professionals may use ultrasound to find cleft lip, beginning around the 13th week of pregnancy. Sometimes a healthcare professional can find cleft lip earlier using 3D ultrasound techniques. As the unborn baby continues developing, it may be easier to diagnose cleft lip. Cleft palate that occurs alone is harder to see using ultrasound. […] If an ultrasound finds cleft lip or cleft palate, parents can meet with specialists to begin planning for care before birth. […] If cleft lip or cleft palate is found before birth, your healthcare professional will often recommend that you meet with a genetic counselor.
- #1 Cleft Palate – StatPearls – NCBI Bookshelfhttps://www.ncbi.nlm.nih.gov/books/NBK563128/
A cleft palate can occur in isolation or as part of a syndrome and can be detected prenatally using advanced imaging techniques. […] A cleft palate creates a persistent communication between these 2 spaces, with deleterious effects on speech, swallowing, and breathing, particularly in neonates. […] In many cases, prenatal diagnosis can be made via ultrasonography around 18 weeks gestation, though this is highly dependent on technician experience and skill. […] Prenatal magnetic resonance imaging (MRI) is useful for further characterization of the cleft and is used when a CL/P has already been identified to evaluate for other defects, especially if a potential for additional intracranial findings in the setting of a known or suspected genetic syndrome is present. […] If the cleft palate is diagnosed via prenatal ultrasonography, the family will often be referred for a prenatal visit with an interprofessional cleft team.
- #1 Cleft Lip & Palate Associationhttps://www.clapa.com/treatment/diagnosis-birth/
Some cleft palates are clearly visible, especially when they involve the hard palate (the bit at the front of the mouth towards the teeth) as well as the soft palate (the bit at the back of the throat). […] With cleft lip and palate, the majority of babies (91%) are diagnosed with a cleft lip before birth, so most parents have a chance to learn more about cleft and prepare for the possibility that their child will have a cleft palate as well. […] Your baby will need an operation to repair the cleft. […] A cleft lip is usually repaired within the first 3-6 months of a babyâs life. A cleft palate is usually repaired within 6-12 months of birth. […] The most important step once the diagnosis has been confirmed is to be put in touch with one of the NHS Cleft Teams around the UK. […] If you are still pregnant, it could be that your obstetric unit wants you to wait for days or even weeks to have a second ultrasound scan. However, if youâve received a diagnosis of cleft, you should be put in touch with the Cleft Team straight away, and they will aim to contact you within 24 hours. […] If your baby has already been born, you should be visited in the hospital by someone from the Cleft Team and shown how to manage any issues your baby may have with feeding, etc.
- #1 HealthtalkGetting the news of a diagnosis of cleft | Real People. Real life experiences. | Healthtalkhttps://healthtalk.org/experiences/cleft-lip-and-palate/diagnosis-cleft-and-breaking-news/
The initial diagnosis of a cleft lip or palate usually happens when the expectant mother has a scan at approximately 20 weeks of pregnancy. The ultrasound scan is generally conducted by a trained sonographer who can identify the appearance of a cleft lip. While an ultrasound scan can detect the image of a cleft lip it cannot reliably detect a cleft palate. Sometimes further scans such as MRI and 3D scanning are offered to families, particularly if there is a concern that the baby will also have a cleft palate and more detail is required. […] It is common for a sonographer to contact a senior sonographer or another health professional (sometimes a consultant paediatrician, obstetrician, or surgeon) when a prenatal scan shows a potential diagnosis of cleft lip, and often a specialist scan is then offered. A senior health professional will break the news to the parents at this appointment. Some families we spoke to were referred to genetic counselling services particularly if there was a family history of Pierre Robin sequence, Stickler syndrome, 22q11 deletion syndrome, or a history or risk of other associated genetic conditions. However, these syndromes are not usually detected antenatally.
- #1 Cleft Lip and Palate: Causes, Diagnosis, & Treatment – BuzzRxhttps://www.buzzrx.com/blog/cleft-lip-and-palate-causes-diagnosis-treatment
The 20-week ultrasound (also referred to as an anatomy scan) can diagnose a cleft lip and cleft palate as they typically develop between 18 and 22 weeks of pregnancy. […] A cleft lip is easier to diagnose during pregnancy compared to a cleft palate. If a prenatal ultrasound shows a cleft, the doctor may recommend amniocentesis (a sampling of the amniotic fluid) to check for inherited genetic syndromes that can cause birth defects. […] After birth, a cleft lip and palate, especially a cleft lip, is readily visible on the baby’s face. However, some types of cleft palate, such as a bifid uvula or submucous cleft palate, may not be discovered until the child is older.
- #1 Prenatal ultrasonographic diagnosis of cleft lip with or without cleft palate; pitfalls and considerations | Maxillofacial Plastic and Reconstructive Surgery | Full Texthttps://jkamprs.springeropen.com/articles/10.1186/s40902-015-0019-z
The accuracy of sonography for prenatal diagnosis of CL CP is highly variable and dependent on the experience of the sonographer, maternal body habitus, gestational age, fetal position, and the amount of amniotic fluid and the type of clef. […] 3D ultrasonography and prenatal MRI would improve the accuracy of prenatal diagnosis of orofacial clefts. […] Ultrasonographic examination can never rule out a chromosomal aberration. Therefore, patients should receive genetic counseling and should be offered karyotypic analysis of their fetus, if needed. […] For an effective counseling, accuracy of diagnosis is essential. Diagnosing techniques have been dramatically improved throughout the decades by technology, equipment and skills. However, health professionals must be aware of the possible pitfalls and related considerations of the ultrasonographic diagnosis for better treatment planning and counseling.
- #1 Prenatal ultrasonographic diagnosis of cleft lip with or without cleft palate; pitfalls and considerations | Maxillofacial Plastic and Reconstructive Surgery | Full Texthttps://jkamprs.springeropen.com/articles/10.1186/s40902-015-0019-z
Ultrasonographic examination is widely used for screening of abnormal findings on prenatal screening. Cleft lip with or without cleft palate of the fetus can also be screened by using ultrasonography. Presence of abnormal findings of the fetal lip or palate can be detected by the imaging professionals. However, such findings may not be familiar to oral and maxillofacial surgeons. […] An accurate prenatal diagnosis of the lip and palate anomaly is critical for establishing adequate long-term treatment planning, prediction of prognosis, and proper counseling with the parent. […] The sensitivity of routine transabdominal ultrasonic scan at 20-weeks gestation varies from 16 % to 93 %, indicating a considerable proportion of misdiagnosis. […] Thus when the surgeons are to make treatment planning and counsel the parents, they should be aware of the potential pitfalls of the ultrasonography, as there can be possible inconsistencies between reading from the imaging professionals and the actual fetal facial structural anomalies.
- #1 Cleft lip and cleft palate – Wikipediahttps://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate
Cleft lip and cleft palate can often be diagnosed during pregnancy with an ultrasound exam. […] Traditionally, the diagnosis is made at the time of birth by physical examination. Recent advances in prenatal diagnosis have allowed obstetricians to diagnose facial clefts in utero with ultrasonography. […] Accurate evaluation of craniofacial malformations is usually possible with the ultrasound scan performed during pregnancy. This is however not a routine procedure according to the American Institute of Ultrasound in Medicine. The accuracy of ultrasonography for prenatal diagnosis of cleft lip +/- palate is dependent on the experience of the sonologist, maternal body type, foetal position, the amount of amniotic fluid and the type of cleft. […] Prenatal diagnosis enables appropriate and timely education and discussion with parents by the cleft team. This helps improve the quality of treatment received by the child and improves quality of life. […] An accurate prenatal diagnosis of the CLP anomaly is critical for establishing long-term treatment planning, prediction of treatment outcome, and discussion and education of the parent.
- #1 Cleft Lip & Cleft Palate: Causes & Treatmenthttps://my.clevelandclinic.org/health/diseases/10947-cleft-lip-cleft-palate
Prenatal ultrasound can diagnose most clefts of the lip because these clefts cause physical changes in the fetus’s face. […] If an ultrasound doesnât detect a cleft before birth, a physical exam of the mouth, nose and palate can diagnose cleft lip or cleft palate after birth. […] Most healthcare providers detect cleft lip at your 20-week ultrasound (anatomy scan), which occurs between 18 and 22 weeks of pregnancy. […] Surgery treats cleft lip and/or cleft palate. The exact details of treatment depend on the extent of the cleft, your child’s age and other special needs or health conditions. […] Cleft lip repair may require one or two surgeries. The first surgery usually occurs when your baby is between 3 and 6 months old. […] Cleft palate surgery usually occurs when your baby is 12 months old.
- #1 Accurate diagnosis of prenatal cleft lip/palate by understanding the embryologyhttps://pmc.ncbi.nlm.nih.gov/articles/PMC5618146/
Lateralization of the alar base could help the ultrasonographer to diagnose a complete CLP patient where the visualisation of the CP is difficult. […] An unremarkable uvula, visualised by ultrasound as an equals sign, suggests an intact normal palate. If the ultrasonographer cannot visualise the middle part of the secondary palate, but the equals sign is visible, it is suggestive of an intact palate. This could safe the ultrasonographer time.
- #1 Cleft Lip +/- Cleft Palate « Charge Syndrome Foundationhttps://www.chargesyndrome.org/cleft-lip-cleft-palate/
Diagnosis of Clefts in CHARGE Cleft lip is obvious at birth. The newborn exam performed in the delivery room usually includes an evaluation of the palate. A cleft of the hard palate should be apparent as part of this exam. A submucous cleft is more difficult to diagnose and is sometimes not recognized until much later. […] Cleft lip can be unilateral (UL, one-sided) or bilateral (BL, two-sided). Cleft lip typically occurs between the side and center (cupids bow) portions of the upper lip. It may involve only the lip, or extend into the gum and even into the primary (hard) palate. […] Cleft palate results from a failure of fusion of the palatal shelves. Isolated cleft palate (without cleft lip) is in the back of the palate. It can involve the hard and soft palate or just the soft palate.
- #1 Cleft Lip and Cleft Palate Causes, Signs and Screening at OHSUhttps://www.ohsu.edu/doernbecher/cleft-lip-and-cleft-palate
The type of cleft your child has will determine the best treatment. Clefts may be: […] A cleft lip may appear without a cleft palate or clefts may occur in combination. The most common combination is a cleft of the hard and soft palate and a cleft lip on one side. […] Cleft palates are grouped into three types: […] A cleft in the muscles of the soft palate, but not in the lining of the palate. This cleft may not be seen in an exam.
- #1 2025 ICD-10-CM Codes Q37*: Cleft palate with cleft liphttps://www.icd10data.com/ICD10CM/Codes/Q00-Q99/Q35-Q37/Q37-
Q37.2 Cleft soft palate with bilateral cleft lip […] Q37.3 Cleft soft palate with unilateral cleft lip […] Q37.4 Cleft hard and soft palate with bilateral cleft lip […] Q37.5 Cleft hard and soft palate with unilateral cleft lip […] Q37.8 Unspecified cleft palate with bilateral cleft lip […] Q37.9 Unspecified cleft palate with unilateral cleft lip
- #1 Pediatric Cleft Lip and Palate: Practice Essentials, Pathophysiology, Etiologyhttps://emedicine.medscape.com/article/995535-overview
Orofacial clefts including cleft lip (CL), cleft lip and palate (CLP), and cleft palate (CP) alone, as well as median, lateral (transversal), and oblique facial clefts are among the most common congenital anomalies. The incidence of orofacial cleft is approximately 1 in every 500-550 births. 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. […] With rapidly advancing knowledge in medical genetics and with new DNA diagnostic technologies, more cleft lip and palate anomalies are diagnosed antenatally, and more orofacial clefts are identified as syndromic. […] Most individuals with CL, CP, or CLP, as well as many individuals with other craniofacial anomalies, require the coordinated care of providers in many fields of medicine (including otolaryngology) and dentistry, along with that of providers in speech pathology, audiology, genetics, nursing, mental health, and social medicine. […] The timing of the individual procedures varies in different centers and with different specialists.
- #1 Cleft lip and palate – Symptoms, diagnosis and treatment | BMJ Best Practicehttps://bestpractice.bmj.com/topics/en-gb/675
Cleft lip with or without cleft palate is approximately twice as common as isolated cleft palate. […] The majority of cleft lip deformities are associated with a varying degree of nasal deformity. […] Oro-facial clefts can occur in isolation or as a component of an identifiable syndrome. They are among the most common birth defects. […] The aetiology of cleft lip and palate involves a variety of genetic and environmental factors that result in variable expressions of oro-facial clefting. […] Comprehensive care involves a multi-disciplinary cleft team with specialists from fields such as facial plastic surgery, genetics, nursing, speech-language pathology, orthodontics, dentistry, oral surgery, audiology, and paediatrics. […] Key diagnostic factors include presence of risk factors, bilateral cleft lip palate, unilateral cleft lip palate, isolated cleft palate, microform cleft lip, isolated sub-mucous cleft palate, and positive antenatal ultrasound.
- #1 Cleft lip and palate – Symptoms, diagnosis and treatment | BMJ Best Practicehttps://bestpractice.bmj.com/topics/en-gb/675
Other diagnostic factors include difficulty feeding, poor weight gain, and airway obstruction. […] 1st investigations to order include audiogram and genetics consult. […] Investigations to consider include auditory brain stem response (ABR) test, vertebral spine x-rays, renal ultrasound, fluorescence in situ hybridisation (FISH), and ophthalmic examination.
- #1 Cleft lip and palate – Symptoms, diagnosis and treatment | BMJ Best Practice UShttps://bestpractice.bmj.com/topics/en-us/675
Other diagnostic factors include difficulty feeding, poor weight gain, and airway obstruction. […] Risk factors include genetic predisposition, anticonvulsant drugs, maternal tobacco use, maternal alcohol consumption, and folic acid deficiency. […] 1st tests to order include audiogram and genetics consult. […] Tests to consider include auditory brain stem response (ABR) test, vertebral spine x-rays, renal ultrasound, fluorescence in-situ hybridization (FISH), and ophthalmic examination.
- #1 Cleft Lip and Palate Evaluationhttps://www.nationwidechildrens.org/specialties/cleft-lip-and-palate-center/about-cleft-lip-and-palate/cleft-lip-and-palate-evaluation
All new patients are evaluated thoroughly by the clinical geneticist who is also a Pediatrician. […] If a specific diagnosis is made, the family is appropriately counseled regarding diagnosis, prognosis, special needs, recurrence risks, and pre-natal testing. […] A perceptual speech evaluation involves a speech-language pathologist listening to your child talk and making judgments regarding their intelligibility (speech clarity), articulation(pronunciation), voice, and resonance (degree of nasality). […] When listening to your child talk, the speech-language pathologist can also obtain important information regarding whether your child may have velopharyngeal dysfunction, a speech disorder sometimes associated with cleft palate, to determine if additional diagnostic tests or treatment are needed.
- #1 Cleft Lip and Palate Evaluationhttps://www.nationwidechildrens.org/specialties/cleft-lip-and-palate-center/about-cleft-lip-and-palate/cleft-lip-and-palate-evaluation
If there are concerns with your child’s articulation, resonance, or voice, or if velopharyngeal dysfunction is suspected, additional testing will follow and may include standardized testing, Nasometry, Pressure-flow Analysis, and/or Nasopharyngoscopy. […] Nasometry is a non-invasive test performed by the speech-language pathologist during the speech evaluation. […] The speech pathologist then interprets your child’s score (called a nasalance score) relative to a normal cutoff score to determine if further testing or treatment is necessary. […] When the perceptual speech evaluation reveals that a child has hypernasal speech (excessively nasal speech), nasal airflow escaping through the nose during speech (called audible nasal emission), or other symptoms of velopharyngeal dysfunction, it may be helpful to see how structures of the nose and mouth are working to determine what is causing these problems.
- #1 Cleft Lip and Palate Evaluationhttps://www.nationwidechildrens.org/specialties/cleft-lip-and-palate-center/about-cleft-lip-and-palate/cleft-lip-and-palate-evaluation
Nasopharyngoscopy is a procedure that provides a view of the inside of the nose and throat and allows the doctors and speech pathologist to evaluate the child’s velopharyngeal closure (closure of the soft palate against the side walls and back wall of the throat during certain speech sounds). […] Pressure-flow analysis is a special type of speech testing that allows the speech pathologist and doctors to measure the size of the opening between the oral and nasal passageway during speech. […] Children born with cleft palate are at risk for hearing loss due to abnormal function of the muscular tube (called the Eustachian tube) that helps clear fluid from behind your child’s eardrum. […] As part of your child’s team appointment, they will typically undergo hearing testing (called audiometry) and measurement of the function of the eardrum and middle ear space (called tympanometry).
- #1 Cleft lip and cleft palate – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/cleft-palate/diagnosis-treatment/drc-20370990
Regular screening and treatment for health problems is mostly limited to the first two decades of life, but lifelong monitoring may be needed depending on your child’s individual health problems. […] If your child was diagnosed with cleft lip, cleft palate or both, you’ll need to see specialists who can help create a treatment plan for your child.
- #1 Cleft Lip and Cleft Palate Diagnosis and Treatment at OHSUhttps://www.ohsu.edu/doernbecher/cleft-lip-and-cleft-palate-diagnosis-and-treatment
Children who had a cleft lip may have surgery when their face is fully developed to reduce scarring and improve appearance. […] Older teens may have nose and jaw surgery after theyre done growing to improve function or appearance. […] Our team will create a custom plan for your child that may include experts in: Audiology (hearing care), Cardiology (heart care), Craniofacial surgery, Dentistry, Feeding and swallowing, Genetics, Neurosurgery, Nutrition, Occupational therapy, Ophthalmology (eye care), Oral surgery, Orthodontics, Otolaryngology (ear, nose and throat), Pediatric plastic and reconstructive surgery, Physical therapy, Psychology, Speech-language pathology. […] Our craniofacial team includes specialists who work with children and families to address issues like teasing or bullying. […] If your family needs to stay overnight, you may be able to stay at OHSU’s Rood Family Pavilion. […] We have qualified interpreters to help families whose primary language is not English.
- #1 Cleft Lip & Cleft Palate: Causes & Treatmenthttps://my.clevelandclinic.org/health/diseases/10947-cleft-lip-cleft-palate
Up to 40% of children with a cleft palate will need further surgeries to help improve their speech. […] Children often need treatment beyond surgery for cleft lip or palate. […] Because of the number of oral health and medical problems associated with a cleft lip or cleft palate, it takes a team of healthcare providers working together to develop a comprehensive care plan. […] You canât prevent your baby from having cleft lip/cleft palate. […] Treatment may take many years and require several surgeries. […] Problems with eating, hearing and speech are common in children with clefts. […] Children with cleft palate are more prone to fluid buildup in their middle ears (glue ear). […] Children with cleft palate may have trouble speaking. […] Children with clefts are prone to dental problems like cavities and missing, malformed or displaced teeth. […] Children with clefts may be self-conscious or embarrassed about their appearance, even at a young age.
- #1 Cleft lip and cleft palate – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/cleft-palate/diagnosis-treatment/drc-20370990
Healthcare professionals usually offer genetic consultation to all parents who have a child born with a cleft lip or cleft palate. […] Treatment involves surgery to repair cleft lip and cleft palate and therapies to make any related conditions better. […] Surgery to correct a cleft lip and cleft palate is based on your child’s situation. […] Healthcare professionals usually do surgeries in this order: Cleft lip repair between 3 and 6 months of age. Cleft palate repair by 9 to 18 months (usually around 1 year) or earlier if possible. This surgery occurs after any cleft lip repair. […] Surgery can improve your child’s quality of life and make your child eat, breathe and talk better. […] Your healthcare professional may recommend more treatment for other functional and structural changes that cleft lip and cleft palate cause, such as: Feeding strategies, such as using a special bottle nipple or feeder.
- #1 Cleft Lip and Cleft Palate Diagnosis and Treatment at OHSUhttps://www.ohsu.edu/doernbecher/cleft-lip-and-cleft-palate-diagnosis-and-treatment
Your child may have up to 20 appointments in their first year. After this, your child will typically have appointments every six months or once a year. […] Cleft lip surgery usually happens at this age. Your childs surgeon will rebuild affected parts of your childs nose, mouth and face. […] Cleft palate surgery usually happens at this age. The cleft surgeon will close the cleft in the roof of the mouth and rebuild the palate. […] Up to 30% of children with cleft palates develop velopharyngeal dysfunction. It happens when the soft palate does not separate the nose from the mouth enough during speaking or eating. […] Your care team will help you find a dentist in your community who can provide follow-up care for cleft lip and cleft palate. […] Children may start orthodontic care to straighten their teeth and improve how their jaws work.
- #1 The Comprehensive Prenatal Diagnostic Workup for Cleft Lip/Palate | Children’s Hospital of Philadelphiahttps://www.chop.edu/news/comprehensive-prenatal-diagnostic-workup-cleft-lippalate
Cleft lip with or without cleft palate is the most common craniofacial anomaly detected on routine prenatal screening ultrasound. […] In each case of suspected orofacial cleft, the primary goals at our institution are determining whether the defect is unilateral or bilateral, whether the defect is confined to the lip or involves the palate, and whether the defect is isolated or associated with other congenital anomalies. […] Ultrasound and MRI are complementary modalities in the assessment of all facial clefts, and patients referred to our Center for Fetal Diagnosis and Treatment typically undergo both examinations. […] Knowing whether the cleft involves the palate is another important component in preparing parents for what to expect with respect to postnatal surgical management. […] MRI is especially valuable in assessing both the hard and soft palate and traditionally has been superior to ultrasound in detailing defects of the palate.
- #1 Cleft Lip and Palate Diagnosis – Labsterhttps://theory.labster.com/cleft-lip-diagnosis/
If the genetic tests are normal and no other malformations have been seen at the ultrasound scan, the cleft lip palate is most likely an isolated finding. The couple will be offered consultation with a team of experts to discuss and determine the best treatment plan. […] However in approximately 10-15% of individuals with cleft lip and/or palate, it is a part of a syndrome. If a genetic etiology is established by prenatal genetic testing (e.g. a chromosome abnormality by array CGH and/or karyotyping) the couple can be informed about this specific genetic disease including its natural history, prognosis, potential treatment, recurrence risk, etc. If a severe genetic disease is diagnosed prenatally the couple will be informed about the possibility to apply for a late termination of the pregnancy.
- #1 What to know about cleft lip and palatehttps://www.babycenter.com/health/conditions/cleft-lip-and-palate_40008530
How is a cleft lip or cleft palate diagnosed? Cleft lip will usually show up in a prenatal ultrasound starting at 13 weeks if there’s also a cleft palate. […] If your baby has a cleft palate without a cleft lip, it’s much less likely to show up on ultrasounds. In most cases, doctors will diagnose that cleft at birth. […] Sometimes babies can have a hidden cleft in the muscles of the soft palate (rather than the hard palate). This may not be diagnosed until symptoms start to show up after birth.
- #2 Accurate diagnosis of prenatal cleft lip/palate by understanding the embryologyhttps://pmc.ncbi.nlm.nih.gov/articles/PMC5618146/
Cleft lip with or without cleft palate (CP) is one of the most common congenital malformations. Ultrasonographers involved in the routine 20-wk ultrasound screening could encounter these malformations. […] This study provides important embryological information to facilitate the ultrasonographer in making an accurate diagnosis and save time during the ultrasound. […] The aim of this review is to familiarize the ultrasonographer with the embryology of the face, which will subsequently aid in more accurate diagnosis of the extent of the facial cleft. […] Knowledge of the embryology of the face should add to the understanding and correctly diagnosing OFCs. Failure of fusion between any of the facial swellings results in facial clefts and can occur either unilaterally or bilaterally and typically happens at the junction of the lateral incisor and the first premolar teeth.
- #2 Cleft Lip and Cleft Palate Causes, Signs and Screening at OHSUhttps://www.ohsu.edu/doernbecher/cleft-lip-and-cleft-palate
OHSU Doernbecher Childrens Hospital is the most experienced and largest provider of cleft lip and cleft palate care in Oregon. We offer: […] A complete diagnosis and treatment plan for your child, beginning with evaluation before birth and supporting your child through the teen years. […] Learn more about: Diagnosis and treatment of cleft lip and cleft palate […] A cleft lip is often diagnosed during pregnancy by a routine ultrasound. A cleft palate is usually diagnosed after birth because the inside of a babys mouth cant be seen on an ultrasound. […] Ultrasound technicians look for signs of a cleft lip during prenatal ultrasounds. At OHSU, we use a state-of-the-art, 3D ultrasound, making it easy to see signs of a cleft as early as possible. […] If there are signs of a cleft lip, you can start learning about treatment options right away. Soon after your baby is born, your provider will examine the cleft lip and look for a cleft in the palate.
- #2 Cleft Lip and Palate: Causes, Symptoms, Diagnosis, Treatmenthttps://www.webmd.com/oral-health/cleft-lip-cleft-palate
An ultrasound during pregnancy can sometimes show a cleft lip, with or without cleft palate. The doctor can confirm the diagnosis with an exam after the baby is born. But a small cleft lip or palate may not be noticeable until your baby has trouble feeding, or later in life. […] An ultrasound is a test that uses sound waves to make pictures of your unborn baby. Doctors usually perform ultrasounds twice during pregnancy, once in the first trimester and again around 18-20 weeks into pregnancy. […] The doctor should be able to see differences in the structure of your baby’s face on an ultrasound between 11 and 13 weeks. Cleft lip and palate are easier to see as the fetus develops. An ultrasound can often show a cleft lip alone or a cleft lip and palate at about 16 weeks into pregnancy. A cleft palate alone or a partial cleft lip may not show up on this imaging test.
- #2 Cleft Lip & Cleft Palate: Causes & Treatmenthttps://my.clevelandclinic.org/health/diseases/10947-cleft-lip-cleft-palate
Prenatal ultrasound can diagnose most clefts of the lip because these clefts cause physical changes in the fetus’s face. […] If an ultrasound doesnât detect a cleft before birth, a physical exam of the mouth, nose and palate can diagnose cleft lip or cleft palate after birth. […] Most healthcare providers detect cleft lip at your 20-week ultrasound (anatomy scan), which occurs between 18 and 22 weeks of pregnancy. […] Surgery treats cleft lip and/or cleft palate. The exact details of treatment depend on the extent of the cleft, your child’s age and other special needs or health conditions. […] Cleft lip repair may require one or two surgeries. The first surgery usually occurs when your baby is between 3 and 6 months old. […] Cleft palate surgery usually occurs when your baby is 12 months old.
- #2https://www.gov.uk/government/publications/cleft-lip-description-in-brief/cleft-lip-information-for-parents
You are reading this information because your baby is suspected of having a cleft lip following your 20-week screening scan. […] Most scans only pick up a cleft lip. Scans cannot always find a cleft palate, even if a cleft lip can be seen. […] We screen for cleft lip at the 20-week screening scan (between 18+0 and 20+6 weeks of pregnancy). Most cases of cleft lip are found during this scan, but very subtle or small cleft lips may not be seen. […] As the result of the scan suggests your baby has a cleft lip, we will refer you to a specialist team of experts in caring for pregnant mothers and their babies before they are born. […] The specialist team will offer you more scans, which will confirm if your baby has a cleft lip, the type of cleft lip and what this might mean. […] If it is confirmed that your baby has a cleft lip, you will be referred to a clinical nurse specialist based within a cleft team.
- #2 Cleft Lip & Palate Associationhttps://www.clapa.com/treatment/diagnosis-birth/
Some cleft palates are clearly visible, especially when they involve the hard palate (the bit at the front of the mouth towards the teeth) as well as the soft palate (the bit at the back of the throat). […] With cleft lip and palate, the majority of babies (91%) are diagnosed with a cleft lip before birth, so most parents have a chance to learn more about cleft and prepare for the possibility that their child will have a cleft palate as well. […] Your baby will need an operation to repair the cleft. […] A cleft lip is usually repaired within the first 3-6 months of a babyâs life. A cleft palate is usually repaired within 6-12 months of birth. […] The most important step once the diagnosis has been confirmed is to be put in touch with one of the NHS Cleft Teams around the UK. […] If you are still pregnant, it could be that your obstetric unit wants you to wait for days or even weeks to have a second ultrasound scan. However, if youâve received a diagnosis of cleft, you should be put in touch with the Cleft Team straight away, and they will aim to contact you within 24 hours. […] If your baby has already been born, you should be visited in the hospital by someone from the Cleft Team and shown how to manage any issues your baby may have with feeding, etc.
- #2 Cleft Lip and Palate Diagnosis – Labsterhttps://theory.labster.com/cleft-lip-diagnosis/
If the genetic tests are normal and no other malformations have been seen at the ultrasound scan, the cleft lip palate is most likely an isolated finding. The couple will be offered consultation with a team of experts to discuss and determine the best treatment plan. […] However in approximately 10-15% of individuals with cleft lip and/or palate, it is a part of a syndrome. If a genetic etiology is established by prenatal genetic testing (e.g. a chromosome abnormality by array CGH and/or karyotyping) the couple can be informed about this specific genetic disease including its natural history, prognosis, potential treatment, recurrence risk, etc. If a severe genetic disease is diagnosed prenatally the couple will be informed about the possibility to apply for a late termination of the pregnancy.
- #2 Prenatal ultrasonographic diagnosis of cleft lip with or without cleft palate; pitfalls and considerations | Maxillofacial Plastic and Reconstructive Surgery | Full Texthttps://jkamprs.springeropen.com/articles/10.1186/s40902-015-0019-z
The accuracy of sonography for prenatal diagnosis of CL CP is highly variable and dependent on the experience of the sonographer, maternal body habitus, gestational age, fetal position, and the amount of amniotic fluid and the type of clef. […] 3D ultrasonography and prenatal MRI would improve the accuracy of prenatal diagnosis of orofacial clefts. […] Ultrasonographic examination can never rule out a chromosomal aberration. Therefore, patients should receive genetic counseling and should be offered karyotypic analysis of their fetus, if needed. […] For an effective counseling, accuracy of diagnosis is essential. Diagnosing techniques have been dramatically improved throughout the decades by technology, equipment and skills. However, health professionals must be aware of the possible pitfalls and related considerations of the ultrasonographic diagnosis for better treatment planning and counseling.
- #2 Cleft Lip & Palate Associationhttps://www.clapa.com/treatment/diagnosis-birth/
This section explains a bit more about the diagnosis of a child with a cleft and how this will affect things leading up to (or just after) their birth. […] Based on the most recent statistics compiled by CRANE, around 81% of cleft lips are diagnosed before birth, usually at the 20-week anomaly scan where parents can find out their babyâs gender. […] A cleft palate by itself (called an âisolated cleft palateâ) is almost impossible to pick up before birth through regular scans, and can be easily missed when a baby is born if it is not looked for. Midwives and other health professionals should visually examine the babyâs mouth with a torch by pressing down on the babyâs tongue so the whole of the mouth can be seen. […] National Standards state that a cleft palate should be diagnosed within 48 hours of birth, but some can take days, weeks or even years to be diagnosed.
- #2 Cleft Lip/Cleft Palate | Birth Defects | CDChttps://www.cdc.gov/birth-defects/about/cleft-lip-cleft-palate.html
Orofacial clefts, especially cleft lip, can be diagnosed during pregnancy by a routine ultrasound. They can also be diagnosed after the baby is born. Certain types of cleft palate (for example, submucous cleft palate and bifid uvula) might not be diagnosed until later in life. […] Surgery to repair a cleft lip usually occurs in the first few months of life. It is recommended within the first 12 months of life. Surgery to repair a cleft palate is recommended within the first 18 months of life, or earlier if possible. Many children will need additional surgical procedures as they get older.
- #2 2025 ICD-10-CM Codes Q37*: Cleft palate with cleft liphttps://www.icd10data.com/ICD10CM/Codes/Q00-Q99/Q35-Q37/Q37-
Cleft lip and cleft palate are birth defects that affect the upper lip and roof of the mouth. They happen when the tissue that forms the roof of the mouth and upper lip don’t join before birth. The problem can range from a small notch in the lip to a groove that runs into the roof of the mouth and nose. This can affect the way the child’s face looks. It can also lead to problems with eating, talking and ear infections. Treatment usually is surgery to close the lip and palate. Doctors often do this surgery in several stages. Usually the first surgery is during the baby’s first year. With treatment, most children with cleft lip or palate do well. […] Q37 Cleft palate with cleft lip […] Q37.0 Cleft hard palate with bilateral cleft lip […] Q37.1 Cleft hard palate with unilateral cleft lip
- #2 Cleft lip and palate – Symptoms, diagnosis and treatment | BMJ Best Practicehttps://bestpractice.bmj.com/topics/en-gb/675
Cleft lip with or without cleft palate is approximately twice as common as isolated cleft palate. […] The majority of cleft lip deformities are associated with a varying degree of nasal deformity. […] Oro-facial clefts can occur in isolation or as a component of an identifiable syndrome. They are among the most common birth defects. […] The aetiology of cleft lip and palate involves a variety of genetic and environmental factors that result in variable expressions of oro-facial clefting. […] Comprehensive care involves a multi-disciplinary cleft team with specialists from fields such as facial plastic surgery, genetics, nursing, speech-language pathology, orthodontics, dentistry, oral surgery, audiology, and paediatrics. […] Key diagnostic factors include presence of risk factors, bilateral cleft lip palate, unilateral cleft lip palate, isolated cleft palate, microform cleft lip, isolated sub-mucous cleft palate, and positive antenatal ultrasound.
- #2 HealthtalkGetting the news of a diagnosis of cleft | Real People. Real life experiences. | Healthtalkhttps://healthtalk.org/experiences/cleft-lip-and-palate/diagnosis-cleft-and-breaking-news/
The initial diagnosis of a cleft lip or palate usually happens when the expectant mother has a scan at approximately 20 weeks of pregnancy. The ultrasound scan is generally conducted by a trained sonographer who can identify the appearance of a cleft lip. While an ultrasound scan can detect the image of a cleft lip it cannot reliably detect a cleft palate. Sometimes further scans such as MRI and 3D scanning are offered to families, particularly if there is a concern that the baby will also have a cleft palate and more detail is required. […] It is common for a sonographer to contact a senior sonographer or another health professional (sometimes a consultant paediatrician, obstetrician, or surgeon) when a prenatal scan shows a potential diagnosis of cleft lip, and often a specialist scan is then offered. A senior health professional will break the news to the parents at this appointment. Some families we spoke to were referred to genetic counselling services particularly if there was a family history of Pierre Robin sequence, Stickler syndrome, 22q11 deletion syndrome, or a history or risk of other associated genetic conditions. However, these syndromes are not usually detected antenatally.
- #2 Cleft Lip and Palate Evaluationhttps://www.nationwidechildrens.org/specialties/cleft-lip-and-palate-center/about-cleft-lip-and-palate/cleft-lip-and-palate-evaluation
All new patients are evaluated thoroughly by the clinical geneticist who is also a Pediatrician. […] If a specific diagnosis is made, the family is appropriately counseled regarding diagnosis, prognosis, special needs, recurrence risks, and pre-natal testing. […] A perceptual speech evaluation involves a speech-language pathologist listening to your child talk and making judgments regarding their intelligibility (speech clarity), articulation(pronunciation), voice, and resonance (degree of nasality). […] When listening to your child talk, the speech-language pathologist can also obtain important information regarding whether your child may have velopharyngeal dysfunction, a speech disorder sometimes associated with cleft palate, to determine if additional diagnostic tests or treatment are needed.
- #2 Cleft Lip and Palate Evaluationhttps://www.nationwidechildrens.org/specialties/cleft-lip-and-palate-center/about-cleft-lip-and-palate/cleft-lip-and-palate-evaluation
Nasopharyngoscopy is a procedure that provides a view of the inside of the nose and throat and allows the doctors and speech pathologist to evaluate the child’s velopharyngeal closure (closure of the soft palate against the side walls and back wall of the throat during certain speech sounds). […] Pressure-flow analysis is a special type of speech testing that allows the speech pathologist and doctors to measure the size of the opening between the oral and nasal passageway during speech. […] Children born with cleft palate are at risk for hearing loss due to abnormal function of the muscular tube (called the Eustachian tube) that helps clear fluid from behind your child’s eardrum. […] As part of your child’s team appointment, they will typically undergo hearing testing (called audiometry) and measurement of the function of the eardrum and middle ear space (called tympanometry).
- #2 Cleft Lip and Palatehttps://www.asha.org/practice-portal/clinical-topics/cleft-lip-and-palate/?srsltid=AfmBOooK9kKEL5DqTdehUj_xWJiX2VDhOcRyrn6R0S_GBXQVuDlKG8P1
Early intervention for babies and toddlers with clefts involves helping them to develop the use of oral speech sounds after palate repair by increasing consonant inventory, increasing expressive vocabulary, and teaching oral airflow for early emerging fricatives. […] Given the potential impact of hearing loss on speech and language development, early assessment and ongoing monitoring of ear and hearing status by an audiologist are essential for individuals with cleft lip and palate.
- #2 Cleft Lip and Cleft Palate Diagnosis and Treatment at OHSUhttps://www.ohsu.edu/doernbecher/cleft-lip-and-cleft-palate-diagnosis-and-treatment
Children who had a cleft lip may have surgery when their face is fully developed to reduce scarring and improve appearance. […] Older teens may have nose and jaw surgery after theyre done growing to improve function or appearance. […] Our team will create a custom plan for your child that may include experts in: Audiology (hearing care), Cardiology (heart care), Craniofacial surgery, Dentistry, Feeding and swallowing, Genetics, Neurosurgery, Nutrition, Occupational therapy, Ophthalmology (eye care), Oral surgery, Orthodontics, Otolaryngology (ear, nose and throat), Pediatric plastic and reconstructive surgery, Physical therapy, Psychology, Speech-language pathology. […] Our craniofacial team includes specialists who work with children and families to address issues like teasing or bullying. […] If your family needs to stay overnight, you may be able to stay at OHSU’s Rood Family Pavilion. […] We have qualified interpreters to help families whose primary language is not English.
- #2 Cleft Lip and Palate | Ausmedhttps://www.ausmed.com/learn/articles/cleft-lip-and-palate
Although surgery is always necessary, it’s also transformational for these babies, giving them a normal appearance and allowing them to speak and feed without difficulty. […] Follow-up care with specialist teams often continues for several years in order to assess the child’s appearance, speech and hearing in case further follow-up surgery is needed.
- #2 Cleft Lip & Cleft Palate: Causes & Treatmenthttps://my.clevelandclinic.org/health/diseases/10947-cleft-lip-cleft-palate
Up to 40% of children with a cleft palate will need further surgeries to help improve their speech. […] Children often need treatment beyond surgery for cleft lip or palate. […] Because of the number of oral health and medical problems associated with a cleft lip or cleft palate, it takes a team of healthcare providers working together to develop a comprehensive care plan. […] You canât prevent your baby from having cleft lip/cleft palate. […] Treatment may take many years and require several surgeries. […] Problems with eating, hearing and speech are common in children with clefts. […] Children with cleft palate are more prone to fluid buildup in their middle ears (glue ear). […] Children with cleft palate may have trouble speaking. […] Children with clefts are prone to dental problems like cavities and missing, malformed or displaced teeth. […] Children with clefts may be self-conscious or embarrassed about their appearance, even at a young age.
- #2 The Fetal Medicine Foundationhttps://fetalmedicine.org/education/fetal-abnormalities/face/facial-cleft
Facial cleft […] Prevalence: […] 1 in 700 births. […] More common in males than females and in Whites than Blacks. […] In 50% of cases, both the lip and palate are affected, in 25% only the lip and in 25% only the palate. […] Unilateral in 75% of cases (more common on the left side) and bilateral in 25%. […] Ultrasound diagnosis: […] The typical cleft lip appears as a linear defect extending from one side of the lip into the nostril. Cleft palate associated with cleft lip may extend through the alveolar ridge and hard palate, reaching the floor of the nasal cavity or even the floor of the orbit. […] Both transverse and coronal planes are necessary for the diagnosis. Color Doppler may be useful to demonstrate flow across the palate in the case of cleft palate. […] Diagnosis of isolated cleft palate is difficult.
- #2 The Comprehensive Prenatal Diagnostic Workup for Cleft Lip/Palate | Children’s Hospital of Philadelphiahttps://www.chop.edu/news/comprehensive-prenatal-diagnostic-workup-cleft-lippalate
Cleft lip with or without cleft palate is the most common craniofacial anomaly detected on routine prenatal screening ultrasound. […] In each case of suspected orofacial cleft, the primary goals at our institution are determining whether the defect is unilateral or bilateral, whether the defect is confined to the lip or involves the palate, and whether the defect is isolated or associated with other congenital anomalies. […] Ultrasound and MRI are complementary modalities in the assessment of all facial clefts, and patients referred to our Center for Fetal Diagnosis and Treatment typically undergo both examinations. […] Knowing whether the cleft involves the palate is another important component in preparing parents for what to expect with respect to postnatal surgical management. […] MRI is especially valuable in assessing both the hard and soft palate and traditionally has been superior to ultrasound in detailing defects of the palate.
- #2 Cleft lip and palate – Symptoms, diagnosis and treatment | BMJ Best Practicehttps://bestpractice.bmj.com/topics/en-gb/675
Other diagnostic factors include difficulty feeding, poor weight gain, and airway obstruction. […] 1st investigations to order include audiogram and genetics consult. […] Investigations to consider include auditory brain stem response (ABR) test, vertebral spine x-rays, renal ultrasound, fluorescence in situ hybridisation (FISH), and ophthalmic examination.
- #2 Cleft Lip and Palatehttps://www.asha.org/practice-portal/clinical-topics/cleft-lip-and-palate/?srsltid=AfmBOooK9kKEL5DqTdehUj_xWJiX2VDhOcRyrn6R0S_GBXQVuDlKG8P1
The scope of this page is cleft lip and palate in children from birth through school age (to 21 years). […] See the Cleft Lip and Palate Evidence Map for summaries of the available research on this topic. […] Cleft lip and palate may result in a number of deficits that require audiology and/or speech-language pathology treatment, including articulation, feeding and swallowing, hearing, resonance and airflow, speech and language, and voice. […] Speech screening for the child with a cleft lip and/or palate or suspected velopharyngeal dysfunction (VPD) may be completed by an SLP in a variety of settings, including cleft palate-craniofacial team visits, school, and early intervention. […] The SLP attends to signs of anatomical/structural differences (e.g., malocclusion, submucous cleft, fistula, or bifid uvula); resonance disorders and presence of nasal emission; articulation errors that may be characterized as obligatory errors (due to structural differences) or as compensatory (learned) errors; and articulation errors that may be characterized as developmental or phonologic in nature.
- #2 Cleft lip and palate | Radiology Reference Article | Radiopaedia.orghttps://radiopaedia.org/articles/cleft-lip-and-palate?lang=us
Cleft lip and palate is one of the commonest neonatal facial anomalies. In ~80% of cases, the two features tend to occur together 6. […] It is estimated to occur with an incidence of ~1 in 700-1000 live births 1. This can increase to 4% for a sibling of a previously affected fetus and up to 10% for a sibling of two previously affected infants 9. […] Several classification systems exist. The Nyberg 1995 antenatal ultrasound classification system is one that correlates very well with the severity of the defect with outcomes and is divided into five types 5: […] An isolated cleft palate is almost impossible to diagnose in utero and is not part of this classification. […] Sonographic features can be variable depending on the exact type of cleft anomaly. In general, an upper lip defect may be seen and is best appreciated on angled coronal scanning. A vertical hypoechoic region through the fetal upper lip usually represents the defect in the cleft lip. This finding may be corroborated by a similar defect of the soft tissues of the upper lip overlying the maxilla in the axial plane.
- #2 Cleft Lip +/- Cleft Palate « Charge Syndrome Foundationhttps://www.chargesyndrome.org/cleft-lip-cleft-palate/
Orofacial clefting occurs in about 20% of children with CHARGE syndrome. These children may have cleft lip with or without cleft palate or isolated cleft palate, especially sub-mucous cleft palate. […] In general, patients with CHARGE are more likely to have cleft lip, while those with velo-cardio-facial syndrome (VCFS) are more likely to have a cleft palate. When orofacial clefting is present in patients with CHARGE, the choanae are usually patent, so this finding (clefting) may substitute for choanal atresia in the diagnostic criteria, particularly if the remaining findings are otherwise characteristic of this condition. […] While cleft lip is obvious to the casual observer, the diagnosis of submucous cleft palate in CHARGE can sometimes be delayed. Many cases have been confirmed only when tonsils or adenoids are removed. An evaluation looking for cranial nerve IX/X involvement is crucial prior to beginning a feeding program in order to avoid multiple aspiration pneumonias.
- #2 Cleft Lip and Palate | Ausmedhttps://www.ausmed.com/learn/articles/cleft-lip-and-palate
When a cleft lip and/or cleft palate is first diagnosed – either by ultrasound scan or at birth – it can be devastating for the parents. […] Early support from a specialised interprofessional team can make all the difference in navigating the challenges of feeding, emotional support and, ultimately, surgical repair. […] The earlier the detection, the better, as this allows time for the parents to come to terms with their baby’s altered appearance and the need for surgery. […] McElroy et al. (2017) highlight the importance of early detection by performing a thorough examination of both the hard and soft palate as part of the routine newborn examination. […] The timing and extent of surgery depend on the degree of deformity but usually, the lip can be repaired when the baby is 3 to 6 months old, and the palate at around 9 to 12 months, before the child starts to speak.
- #2 Cleft Lip Diagnosis: Early Detection of Cleft Palet at 12 Week Scanhttps://www.londonpregnancy.com/cleft-lip/
Early diagnosis and treatment are available to manage the condition effectively and ensure children born with clefts lead healthy, fulfilling lives. […] Surgical intervention is the primary treatment for cleft lip and palate. […] The timing of surgery depends on the severity of the cleft and the child’s overall health. […] Surgery for cleft lip and palate is highly successful in most cases, especially when performed by experienced surgeons in specialist centres. […] Early intervention allows the child to feed, speak, and grow more normally. […] The surgical repairs significantly improve both the functional and aesthetic outcomes, though multiple surgeries may be required over time. […] Many children with a cleft palate will need speech therapy after surgery to help them develop clear and understandable speech. […] Regular follow-ups with a multidisciplinary team are important to monitor these aspects of the child’s development.
- #3 Cleft Lip & Palate Associationhttps://www.clapa.com/treatment/diagnosis-birth/
This section explains a bit more about the diagnosis of a child with a cleft and how this will affect things leading up to (or just after) their birth. […] Based on the most recent statistics compiled by CRANE, around 81% of cleft lips are diagnosed before birth, usually at the 20-week anomaly scan where parents can find out their babyâs gender. […] A cleft palate by itself (called an âisolated cleft palateâ) is almost impossible to pick up before birth through regular scans, and can be easily missed when a baby is born if it is not looked for. Midwives and other health professionals should visually examine the babyâs mouth with a torch by pressing down on the babyâs tongue so the whole of the mouth can be seen. […] National Standards state that a cleft palate should be diagnosed within 48 hours of birth, but some can take days, weeks or even years to be diagnosed.
- #3 The Comprehensive Prenatal Diagnostic Workup for Cleft Lip/Palate | Children’s Hospital of Philadelphiahttps://www.chop.edu/news/comprehensive-prenatal-diagnostic-workup-cleft-lippalate
Cleft lip with or without cleft palate is the most common craniofacial anomaly detected on routine prenatal screening ultrasound. […] In each case of suspected orofacial cleft, the primary goals at our institution are determining whether the defect is unilateral or bilateral, whether the defect is confined to the lip or involves the palate, and whether the defect is isolated or associated with other congenital anomalies. […] Ultrasound and MRI are complementary modalities in the assessment of all facial clefts, and patients referred to our Center for Fetal Diagnosis and Treatment typically undergo both examinations. […] Knowing whether the cleft involves the palate is another important component in preparing parents for what to expect with respect to postnatal surgical management. […] MRI is especially valuable in assessing both the hard and soft palate and traditionally has been superior to ultrasound in detailing defects of the palate.