Congenital anomalies of lip and palate: prenatal diagnosis
The congenital facial malformations have a significant importance, since the face, being the first thing that is observed in the human being, can bring aesthetic, functional, psychological and social repercussions (1). Likewise, facial appearance and expression are indicators of the emotional and intellectual state of each individual's personality and their social reactions (2). In addition, these anomalies can greatly affect functional activities such as: phonation, feeding and swallowing. For the above mentioned, it is important to study and know everything about this congenital pathology.
DEFINITION:
According to the Contemporary Oral and Maxillofacial Pathology of Philp J Sapp et al., The cleft lip is defined "as a developmental disorder, characterized by a wedge-shaped defect that results from an absence of fusion of the two parts of the lip in a single structure "; and the cleft palate "as a defect of the development of the palate characterized by the absence of complete fusion of the two palatal crests, producing a communication with the nasal cavity" (3)
INCIDENCE:
Lip and palate defects (also called cleft lip or palate [HLP] or cleft lip and palate) is the second most common cause of congenital malformations, accounting for 13% of all abnormalities. It occurs due to the failure of fusion in maxillary processes with nasomedian process during the first trimester of embryonic development, giving rise to the unilateral or bilateral cleft lip; and at the level of the palate, it is the lack of fusion of the maxillary processes, which can occur in the anterior or hard palate, or total including the soft palate (4) In the United States, it is estimated at 1 in every 700 live births ( 4); in Caucasians, 1 per 1,000 live births; and in the black race, 1 per 2500. In Latin America, Bolivia has been described as the country with the highest incidence of this malformation, with a prevalence of 2.09 per 1,000 live births being published (5). In Venezuela, one of the lowest incidence rates is found, according to studies conducted in urban and rural areas of the Capital District and Zulia and Mérida states (6). The defect is twice as frequent in men and doubly more frequent on the side. left. In a study conducted at the Faculty of Dentistry of the Central University of Venezuela, by Nieves Hernández, between 2000 and 2012, it was concluded that of 329 patients with HLP, 51.1% (168) belong to the male gender and the 48.9% (161) to the female gender (7)
ETIOLOGY:
Most cases have multifactorial causes, both genetic and environmental factors, or the combination of both. The agents and teratogenic factors associated during pregnancy are: cortisone (steroids), anticonvulsants (phenytoin and valproic acid), salicylates, vitamin A, cigarettes, alcohol, pesticides such as dioxin, retinoic acid, thalidomine; gestational diabetes, radiation, maternal rubella, anemia, intrauterine infections, among others (8) Some cases may result from the combination of autosomal dominant disorders with incomplete expression (25%) or sporadic disorders (75%). HLP manifests itself in two ways: syndromic cleft lip and / or palate and non-syndromic palate. In the first, the HLP is accompanied by other syndromes in the same place, which can occur in 30% of cases. Gorlin et al. describe 72 possible associations (4). The second, defects are not associated with syndromes, and occurs in 70% of cases (9) The risk of recurrence is variable. When there is an affected child, or a father and no child, the risk of recurrence is 4%; when the children have the anomaly, there is a 9% probability that the next child will be present and the probability that the risk will reach 60% when the parents and the child have the malformation (10)
EMBRYOLOGY:
During the third week of gestation, the cells of the neural crest proliferate and migrate within the frontonasal region and the region of the visceral arches to form the fifth facial primordium. On the fourth week, the fifth primordium gives rise to the frontonasal prominence that divides into the middle and lateral nasal, to two maxillary prominences and to two mandibular prominences. At the beginning of the fifth week, the mandibular prominences come together to form the lower jaw and the lower lip. At the end of the sixth week, a rapid proliferation of maxillary prominences begins, giving rise to the emergence of the medial nasal prominence and the lateral nasal prominence to form the lateral nose, during this period the upper lip is formed by the fusion of the medial nasal processes and maxillary prominence; and the upper jaw (11). The palate is formed from the medial nasal process (primary palate with the palatal bone that includes the 4 upper incisors) and the maxillary prominence (secondary palate: hard and soft palate) when these are fused. The development of the soft palate and uvula is completed in the twentieth week along with that of the hard palate (11,12). The cleft lip and palate affects the cranio-facial complex and is due to the lack of fusion between the frontonasal, maxillary processes and medial nasal, and lateral. Unilateral fissures occur when the prominence of the affected side does not fully fuse with the medial nasal prominence in emergence (11)
CLASSIFICATION:
Over the years, different classifications existed: that of Davis and Ritchie (described in 1922), that of Veau (in 1931), Pfeiffer (in 1964), Kernahan (in 1971), Millard (in 1976), Tessier (in 1979). These classifications are aimed at describing the anatomical segments involved, but none of them is severely exposed. However, one of the most used was the classification of Kernahan and Stara or also called "Stripped of Y", where the type of fissure with embryological base was plotted in relation to the indolent paragraph. In each quadrant the anatomical segment to be diagnosed is represented (See Figure N ° 1) (3) Another important classification is that of Otto Kriens, with the abbreviations LAHSHAL that mean: L (lip), A (alveolus), H (hard palate) ), S (soft palate). Right and lowercase letters were used representing the incomplete segment slit. A point means that there is no cleft presence. Example: complete bilateral cleft (LAHSAL), incomplete right lip cleft (l ...), among others. Therefore, you can select any type of image that is found (See Figure No. 2) (14)
Figura N°1. Clasificación de hendidura labio y palatina,según Kernahan, “Stripped Y”(13,14)
Figure No. 1. Classification of cleft lip and palate, according to Kernahan, "Stripped of Y" (13,14)
Figure No. 2. Classification of cleft lip and palate
According to Otto Kriens (LAHSHAL) (15)
According to Nyberg et al (15), the cleft lip / palate is classified ecographically in:
Type 1: unilateral cleft lip (see Figure N ° 3)
Type 2: Cleft lip and cleft palate unilateral
Type 3: cleft lip and palate bilaterally
Type 4: Cleft lip and medial cleft palate
Type 5: Facial clefts associated with amniotic bands
Figure N ° 3 3D Ultrasonography showing unilateral cleft lip.
ASSOCIATED ANOMALIES:
Associated anomalies are found in 50% of patients with isolated palatal cleft and only in 13% of patients with cleft lip and palate (16).
In all the fetuses with defects of the midline of the face, Nyberg found associated structural anomalies and in 52% of them, some chromosomal alteration (15). The medial cleft lip has a high association with chromosomal anomalies (80%), especially with trisomy 13 (17)
In fetuses with an isolated cleft lip, the probability of presenting an associated chromosomal anomaly is very low (17).
In cases of isolated cleft lip or cleft palate, it is most common to find standing anomalies; In cases of labiopalatine cleft, polydactyly is more frequent. Occasionally, congenital heart disease can be found (4).
ECOGRAPHIC DIAGNOSIS:
The ultrasound diagnosis consists in observing in a modified coronal section an anechoic connection between the upper lip and the nasal orifice. In an axial section, it is observed if the defect reaches the alveolar groove (18) (see figure N ° 4). Diagnosis in fetuses with isolated cleft palate is difficult.
It can be performed from 11 weeks of gestational age through the transvaginal route, although the scarce presence of soft tissues in the first trimester makes it difficult to completely rule out this malformation (18)
In the bilateral cleft lip, the normal alignment of the premaxillary segments of the palate is lost, protruding anteriorly as a soft tissue and bone mass located under the nose. Sometimes, a stomach with little liquid content and polyhydramnios can be appreciated due to the difficulty of swallowing that these fetuses have (18)
The "C" shape of the maxillary alveolar groove may be distorted in the presence of a cleft palate.
Three-dimensional multiplanar ultrasound may offer advantages over conventional ultrasound by allowing more accurate identification of dental buds (18)
Figure No. 4. Diagnosis of cleft lip by two-dimensional ultrasonography.
OBSTETRIC BEHAVIOR:
On suspicion of the presence of cleft lip, a detailed fetal ultrasound examination should be performed to confirm the diagnosis, as well as its extension and possible association with cleft palate. Subsequently, anomalies that could be associated should be looked for (18).
It is advisable to perform a fetal karyotype, although the possibility of association with chromosomal abnormalities is low, the sensitivity of detection is less than 100% even in sonographers.
REFERENCIAS BIBLIOGRÁFICAS
1.- Martelli – Junior H. Porto LV et. all. Prevalence of nonsyndromic oral clefts in a reference Hospital in the State of Minas Gerais, Brazil, between 2000-2005. Braz Oral res 2007; 21 (4): 314-317
2.- González T, Arias J, Lassaletta L, Martorell V. Malformaciones craneofasciales y su tratamiento. Nascer e Crescer, Revista do Hospital de Criancas Maria Pia 2003, 12 (4)
3.- Sapp P, Eversosle LR, Wysocky GP. Patología Oral y Maxilofacial Contemporánea. España: Harcourt Brace; 1998. p. 27 -29.
4.- Gorlin RJ, Cervenka J, Pruzansky S. Facial clefting and its syndromes.Birth Defects 1971; 7 (7): 3.
5.- Niall M, Marcelo L, Arana U, Nadeem R. Birth prevalence of cleft lip and palate in Sucre, Bolivia. Cleft Palate-Craneofacial Journal 2004; 41 (2): 216-225
6.- Menegotto B, Salzano F. Epidemiology of Oral Cleft in a Large South American Simple. Cleft Palate Craneofacial J 1991: 28 (4)
7.- Nieves, M. Prevalencia de las hendiduras labio palatina (HLP)en niños que acuden al centro de investigación y atención a pacientes con malformaciones craneofaciales y prótesis maxilofacial (CIAPA) en el período 2000-2012. Trabajo de ascenso presentado ante la ilustre Universidad Central de Venezuela para ascenso a la categoría de ASOCIADO en el Escalafón Universitario. Disponible en: http://saber.ucv.ve/jspui/bitstream/123456789/6145/1/TESIS.pdf
8.- Zambrano MA, López J, López M, Rojas N. Comparative study of posteroanterior cephalometric analysis of parents with children with lip and / or palate cleft nonsyndromic and of parents with children without cleft. Ustasalud 2006; 5: 15-25.
9.- Romero R. et al. Prenatal diagnosis of congenital anomalies. Appleton & Lange. Connecticut, The United States of America, 1998; 101-108pp.
10.- Curtis EJ, Fraser FC, Warburton D. Congenital cleft lip with and palate. Arch Dis Child 1961; 102: 853-857
11.- Bender PL. Genetics of cleft lip and palate. J Pediatr Nurs 2000; 15: 242-249.
12.- Moore KL. The developing human: clinically oriented embryology. Philadelphia W.B. Saunders Company, 1993.
13.- Rozen I. Cleft lip and palate, Basic concepts. Isaac Rozen Fuller, 2000.
14.-Rossell-Perry P. New severity classification of cleft palate of the Outreach Surgical Center Lima, Peru. Acta Med Per 2006; 23: 59-66.
15.- Nyberg DA et al. Fetal cleft lip with and without cleft palate: US classification and correlation with outcome. Radiology 1995; 195: 677-684.
16.- Ingalls TH, Taube IE, Klingberg MA. Cleft lip and cleft palate: Epidemiologic considerations. Plast Reconstr Surg 1964; 34: 1.
17.- Berge SJ et al. Fetal cleft lip and palate: sonografic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses. Ultrasound Obstet Gynecol 2001; 18: 422-431
18.- Cafici D, Mejides A, Sepúlveda W. Ultrasonography in obstetrics and prenatal diagnosis. Journal editions Buenos Aires - Argentina, 2007; 237-252 8.- Zambrano MA, López J, López M, Rojas N. Comparative study of posteroanterior cephalometric analysis of parents with children with lip and / or palate cleft nonsyndromic and of parents with children without cleft. Ustasalud 2006; 5: 15-25.
9.- Romero R. et al. Prenatal diagnosis of congenital anomalies. Appleton & Lange. Connecticut, The United States of America, 1998; 101-108pp.
10.- Curtis EJ, Fraser FC, Warburton D. Congenital cleft lip with and palate. Arch Dis Child 1961; 102: 853-857
11.- Bender PL. Genetics of cleft lip and palate. J Pediatr Nurs 2000; 15: 242-249.
12.- Moore KL. The developing human: clinically oriented embryology. Philadelphia W.B. Saunders Company, 1993.
13.- Rozen I. Cleft lip and palate, Basic concepts. Isaac Rozen Fuller, 2000.
14.-Rossell-Perry P. New severity classification of cleft palate of the Outreach Surgical Center Lima, Peru. Acta Med Per 2006; 23: 59-66.
15.- Nyberg DA et al. Fetal cleft lip with and without cleft palate: US classification and correlation with outcome. Radiology 1995; 195: 677-684.
16.- Ingalls TH, Taube IE, Klingberg MA. Cleft lip and cleft palate: Epidemiologic considerations. Plast Reconstr Surg 1964; 34: 1.
17.- Berge SJ et al. Fetal cleft lip and palate: sonografic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses. Ultrasound Obstet Gynecol 2001; 18: 422-431
18.- Cafici D, Mejides A, Sepúlveda W. Ultrasonography in obstetrics and prenatal diagnosis. Journal editions Buenos Aires - Argentina, 2007; 237-252
8.- Zambrano MA, López J, López M, Rojas N. Comparative study of posteroanterior cephalometric analysis of parents with children with lip and / or palate cleft nonsyndromic and of parents with children without cleft. Ustasalud 2006; 5: 15-25.
9.- Romero R. et al. Prenatal diagnosis of congenital anomalies. Appleton & Lange. Connecticut, The United States of America, 1998; 101-108pp.
10.- Curtis EJ, Fraser FC, Warburton D. Congenital cleft lip with and palate. Arch Dis Child 1961; 102: 853-857
11.- Bender PL. Genetics of cleft lip and palate. J Pediatr Nurs 2000; 15: 242-249.
12.- Moore KL. The developing human: clinically oriented embryology. Philadelphia W.B. Saunders Company, 1993.
13.- Rozen I. Cleft lip and palate, Basic concepts. Isaac Rozen Fuller, 2000.
14.-Rossell-Perry P. New severity classification of cleft palate of the Outreach Surgical Center Lima, Peru. Acta Med Per 2006; 23: 59-66.
15.- Nyberg DA et al. Fetal cleft lip with and without cleft palate: US classification and correlation with outcome. Radiology 1995; 195: 677-684.
16.- Ingalls TH, Taube IE, Klingberg MA. Cleft lip and cleft palate: Epidemiologic considerations. Plast Reconstr Surg 1964; 34: 1.
17.- Berge SJ et al. Fetal cleft lip and palate: sonografic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses. Ultrasound Obstet Gynecol 2001; 18: 422-431
18.- Cafici D, Mejides A, Sepúlveda W. Ultrasonography in obstetrics and prenatal diagnosis. Journal editions Buenos Aires - Argentina, 2007; 237-252