Associated anomalies among infants with oral clefts at birth and during a 1‐year follow‐up

Abstract

Reports of birth defects rates may focus on defects observed in the newborn period or include defects diagnosed at older ages. However, little information is available on the rates of additional anomalies detected after birth or on the ages at which such anomalies are diagnosed. The aims of this work were to describe the initial diagnoses of oral clefts, isolated or associated with other defects, in newborn infants ascertained in hospitals of the ECLAMC network, and diagnostic changes that occurred due to detection of additional defects during a one-year follow-up period. Seven hundred ten liveborn infants with cleft lip only (CLO), cleft lip with cleft palate (CLP), or cleft palate (CP) were ascertained between 2003 and 2005. Prevalence estimates of isolated and associated clefts, diagnoses in infants with associated clefts, and the percentage of isolated clefts that were reclassified as associated were established. Birth prevalence estimates (per 1,000) were as follows: Total: 1.7; CLP: 0.94 (ASO=23.5%); CP: 0.46 (ASO=42.3%); CLO: 0.28 (ASO=7.6%). Initial diagnoses in infants with associated clefts included 38 infants with chromosomal abnormalities, 33 with non-chromosomal syndromes, 16 with malformation sequences, and 98 with multiple anomalies of unknown etiology. Seven percent of newborns initially classified as isolated were later reclassified as associated. Ten infants without associated defects or clinically suspected syndromes were diagnosed as syndromic only through laboratory findings or family history, illustrating the difference between the terms associated vs. isolated, which refers to presence or absence of associated anomalies, and syndromic vs. non-syndromic, which refers to etiology.

Can we predict orofacial cleft in future pregnancy?

“…When compared to literature (0-13.3 %), higher percentage of chromosomal aberrations found in isolated clefts in our pool (44 %) can be explained by the age of the embryos and fetuses -usually between day 43 and week 12 (20,23). It is nearly impossible to diagnose some associated congenital defects at such an early age.…”

A review of seasonality of cleft births – The Brazil experience

“…2,3 Approximately 65% to 70% of cleft lip with or without cleft palate (CLP) and 40% to 70% of cleft palate only (CP) were isolated defects [4][5][6] and the remaining related to syndromic clefts. [7][8][9] A recent systematic literature review discussing the issue have also demonstrated that its incidence varies according to gender, 2:1 being the ratio of males to females for cleft lip and palate and 1:2 the approximate ratio of male to female for isolated CP, as well as unilateral clefts are more common than bilateral clefts, and of the unilateral cases of non-syndromic cleft lip and palate, left-sided cleft lips occur more frequently than right-sided cleft lips. 10 The multifactorial threshold model is one of the wellestablished models for describing the aetiology of CL/P.…”

Latin American Collaborative Study of Congenital Malformations (ECLAMC): A Model for Health Collaborative Studies

“…A Net for data income from lying-in hospitals identified by ID codes (circles) sending data for at least 500 malformed infants (Split 500) to the coordination COORD (square). B Net for data income from lying-in hospitals identified by ID codes (circles) participating at 7 research projects (squares): HIPOSP: Hypospadias [6], PNF: natural family planning [23], DOWNSURV: Down syndrome survival [8], ECOTERAT: environmental teratogens [9], FOLAWARE: folic acid awareness [10], GLOBAL: global cleft project [11], and BINS: BINS development testing [12]. C Net for data outcome to scientific publications involving 12 centers from the Core Group identified by ID codes (squares), defined actors linked to most of the other actors, while the remaining centers belong to the periphery.…”

“…• GLOBAL (global cleft project): A cohort study of newborns with oral clefts to evaluate the impact of systematic pediatric care on morbidity and mortality at the age of 2 years [11]. …”