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Congenital Malformations The Journal of Maternal-Fetal and Neonatal Medicine, 2012; 25(S(1)): 25–29 The Journal of Maternal-Fetal and Neonatal Medicine © 2012 Informa UK, Ltd. ISSN 1476-7058 print/ISSN 1476-4954 online DOI: 10.3109/14767058.2012.664943 2012 25 REVIEW ARTICLE S(1) Congenital malformations Giovanni Corsello & Mario Giuffrè 25 Dipartimento Materno Infantile, Università degli Studi di Palermo, Palermo, Italy 29 Congenital malformations are single or multiple defects of the On the basis of etiologic criteria (Table I), primary malfor- © 2012 Informa UK, Ltd. morphogenesis of organs or body districts identifiable at birth mations are morphogenetic defects arising from intrinsic errors or during the intrauterine life. Their global birth prevalence is of developmental process with genetic origin; disruptions (secondary) occur when environmental factors interfere with 10.3109/14767058.2012.664943 about 2–3%. Both genetic and environmental factors, as well as their combination in a multifactorial contest, may induce otherwise normal developmental process, determining a global congenital defects. Congenital malformations may be classi- impairment or specific damages on developmental fields; defor- 1476-7058 fied on the basis of clinical, etiologic as well as pathogenetic mations arise from ab extrinseco mechanical compression during criteria. Relevant diagnostic and therapeutic tools have been fetal development (amniotic bands, twinning, uterine malforma- progressively improving in the last decades, contributing to a tions and masses). 1476-4954 better identification and a reduction of long-term morbidity and On the basis of pathogenetic criteria, in syndromes, all mortality of these patients. A correct identification of a congen- structural defects arise from a single etiologic factor; sequences are characterized by a cascade of dysmorphogenetic processes 24 February 2012 ital defect is the first step in order to offer a helpful genetic coun- seling to the parental couple. Because of their increasing life originated by a starting event inducing a cascade of secondary expectancy, congenital malformations represent today a major defects; in associations, different defects are present with higher frequency than random expectancy, without evidence of any etio- 24 February 2012 issue in the health services for the amount of resources they need for the requested multidisciplinary assistance. logic or pathogenetic correlation; dysplasias are structural defects involving specific tissues. Keywords: association, blastogenesis, chromosome, counseling, 24 February 2012 gene, imprinting, methylation, phenotype, sequence, syndrome, uniparental dysomy Associations Genetic or environmental factors may interfere with blastogenetic For personal use only. processes, when embryo is a single developmental field, producing Introduction defects in organs and body districts apparently not related each Congenital malformations are defects of morphogenesis of organs other. Some associations may share a phenotypic overlapping in or body districts, identifiable at birth. Their birth prevalence is relation to a common etiologic and pathogenetic mechanisms. about 2–3%. Both genetic and environmental factors may induce Newborns with VACTERLS association show many of the congenital defects. Diagnostic and therapeutic tools have been defects summarized in the acronym (Vertebral defects, Anorectal progressively improving in last decades, contributing to better atresia, Cardiac anomalies, Tracheoesophageal fistula, Esophageal identification and reduction of long-term morbidity/mortality. atresia, Renal anomalies, Limb defects, Single umbilical artery). Because of their increasing life expectancy, congenital malforma- VACTERLS association is often sporadic with a low recurrence tions represent today a major issue for health services regarding risk and is more frequent in the offspring of diabetic mother. the amount of resources they need. Any kind of congenital malformations in offspring of diabetic Evidence of congenital malformations at birth begins a mother are 2–4 folds more frequent and are inversely correlated complex clinical process targeted to correct diagnostic definition with the efficacy of maternal control, particularly in the pericon- [1,2], clinical and prognostic evaluation, including treatment ceptional period. Several factors are involved in the pathogenesis opportunity and genetic counseling. Most congenital malforma- (hyperglycemia, hyperglycosilation of proteins, chronic hypoxia, J Matern Fetal Neonatal Med Downloaded from informahealthcare.com by UNIVERSITA DEGLI STUDI DI PISA on 09/19/12 tion recognize different causes and pathogenetic pathways in spite polyglobulia and lactic acidosis) interfering with blastogenesis, of an identical phenotypic pattern [3,4]. Therefore, diagnostic inducing abnormalities of the midline structures and symmetric process is often long and difficult and may require long-term organs. The fetus is usually macrosomic in relation to fetal hyper- follow-up including anamnesis, phenotype analysis, imaging and insulinemia, sometimes placental microangiopathy may deter- laboratory tests. mine growth restriction. On the basis of clinical criteria, major malformations are morphogenetic defects producing function impairment needing Sequences medical or surgical treatment; defects not producing function impairment and not requiring medical assistance are minor Malformation sequences may depend both on genetic as well as malformations (birth prevalence <4%) or phenotypic variants environmental factors. Many organs and systems may be contem- (birth prevalence >4%). porarily involved in malformation sequences (Table II). Correspondence: Giovanni Corsello, Dipartimento Materno Infantile, Università degli Studi di Palermo, Via Alfonso Giordano, 390127 Palermo, Italy. Tel: +390916555425. Fax: +390916555423. E-mail: [email protected] 25 26 G. Corsello & M. Giuffrè Table I. Etiologic classification of congenital malformations. Table II. Main malformation sequences. Primary (genetic) Name Developmental field and organs involved Chromosomal abnormalities Holoprosencephaly Precordial mesoderm, prosencephalic Numeric vesicle, rinencephalon, orbits, nose, premaxilla Polyploidy Septo-optic dysplasia Optic chiasm, hypophysis Polysomy Pierre Robin Jaw bone, oro-pharyngeal region Monosomy CATCH 22 IV brachial arch, II and III brachial Structural pouches Deletions Poland Pectoral muscle, superior limb Duplications Klippel–Feil Spine Insertions Potter Kidneys, urinary tract, lungs, limbs, facies Translocations Prune belly Urinary tract, abdominal wall Monogenic Bladder-cloacal extrophy Peri-umbilical mesoderm Point mutations Rokitanski Muller ducts Nonsense Sirenomelia Caudal mesoderm Missense Caudal regression Caudal mesoderm Frameshift Premature rupture of amnios Median axis, limb deformations, facial Dynamic mutations clefts Triplet amplification Fetal akinesia Multiple body districts Epigenetic regulation Twin-twin disruption sequence Multiple body districts Imprinting defects Uniparental disomy Polygenic Pierre Robin sequence is a developmental defect of the jawbone Secondary (environmental) and surrounding oro-pharyngeal region (isolated or part of more complex syndromes) characterized by microretrognathia, retro- Biologic agents glossoptosis, cleft palate, swallowing deficit, pharyngeal stenosis Viruses and respiratory distress. Cytomegalovirus Potter sequence originates by absence or severe reduction of Rubella fetal urine output secondary to bilateral kidney agenesis or other Herpes viruses urinary tract malformations. Urine production deficit determines Bacteria a constantly empty urinary bladder, anhydramnios and a cascade Treponema pallidum mechanism responsible for pulmonary hypoplasia, respiratory Parasites distress at birth, dismorphic face with flat profile and fetal hypo- For personal use only. Toxoplasma gondi motility with multiple postural deformations. Chemical agents Prune belly sequence, named after of the characteristic abdom- Drugs inal appearance, is related to different nephro-urologic defects [5]. Antiblastics Urethral obstruction is responsible for oligohydramnios, backward Anticonvulsants urine accumulation and parenchymal damage. Hypertrophic and Antibiotics excessively dilated bladder interfere with fetal development of Abuse substances abdominal wall muscles, diaphragm and testicular migration. Alcohol Smoke Syndromes Cocaine The overall incidence of chromosomal abnormalities is estimated Opiates of about 1/170 live births. Prevalence at conception is much higher, Metabolic conditions with high rate of embryo-fetal loss (about 50% of spontaneous Hyperglycemia, hyperinsulinemia abortions carry chromosomal alterations). Numeric aberrations Hyperphenylalaninemia usually have prezygotic origin, if arising from postzygotic errors Hyperandrogenism they are present only in a percentage of cells (mosaics). Structural J Matern Fetal Neonatal Med Downloaded from informahealthcare.com by UNIVERSITA DEGLI STUDI DI PISA on 09/19/12 Physical agents aberrations occur de novo from meiotic rearrangements or may Ionizing radiations be inherited from one parent, carrying a balanced chromosomal Electromagnetic radiations translocation. Vascular disruptions Down syndrome (21 trisomy) is the most frequent chromo- Subclavian artery vascular disruption somal aberration at birth (about 1/700). In most cases (95 %), it Twin-twin disruption sequence is secondary to a maternal meiotic nondisjunction of homolo- gous chromosomes 21. Incidence
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