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Fetal Cleft lip

Weizeng Zheng, Baohua Li, Yu Zou, Fenlan Lou
OBJECTIVE: The aim of this study was to evaluate the value of MRI in the prenatal diagnosis and classification of cleft palate (CP). METHODS: We collected 94 fetal cases that were suspected of cleft palate with or without cleft lip by prenatal ultrasound (US) and then carried out further MRI to examine the entire body of each fetus within 1 week. The diagnoses resulting from MRI and US examination were compared separately with the final diagnoses obtained from postnatal physical examination or fetal autopsy...
March 18, 2019: European Radiology
Sherelle Laifer-Narin, Kathryn Schlechtweg, James Lee, Whitney Booker, Russell Miller, Rama S Ayyala, Thomas Imahiyerobo
BACKGROUND: Prenatal ultrasound is the standard modality to screen for fetal craniofacial malformations, but can be limited by sonographer experience, oligohydramnios, and maternal obesity. Fetal magnetic resonance imaging (MRI) can be used as an adjunct to ultrasound, but there is a paucity of literature on its performance. The objective of this study was to examine the accuracy of fetal MRI for prenatal diagnosis of craniofacial abnormalities in an at-risk patient population and to determine if accuracy is maintained before and after 24 weeks gestational age (GA)...
April 2019: Annals of Plastic Surgery
Ann-Elodie Millischer, Pascale Sonigo, Tania Attie, Emmanuel Spaggiari, Neil O'Gorman, Bettina Bessieres, Elsa Kermorvant, Nathalie Boddaert, Laurent-Julien Salomon, David Grevent
"CHARGE syndrome" (CS) is a multifaceted syndrome associated with a poor prognosis. The prenatal diagnosis remains challenging especially as the fetal anomalies that may evoke suspicion of CS are not comprehensively described. OBJECTIVE: This study aims to identify the anomalies in MRI with suspected CHARGE syndrome and to propose a possible standardization in the image-based prenatal diagnosis of CS. METHODS: This was a retrospective study of 26 fetuses who underwent MRI and had a confirmed diagnosis of CS, as proven by histopathological and/or neonatal examinations and/or the presence of the CHD7 gene mutation...
February 4, 2019: Prenatal Diagnosis
Wenli Ni, Wenlei Yang, Jinhui Yu, Zhiwen Li, Lei Jin, Jufen Liu, Yali Zhang, Linlin Wang, Aiguo Ren
A deficiency or excess of zinc (Zn), selenium (Se), cobalt (Co), molybdenum (Mo), or manganese (Mn) may interfere with fetal organogenesis. However, the impact of these essential trace elements on the occurrence of cleft lip with or without cleft palate (CL ± P) remains to be elucidated. We aimed to investigate the associations between the amounts of Zn, Se, Co, Mo, and Mn in umbilical cord tissue and risk for CL ± P. This case-control study included 200 controls without congenital malformations and 88 CL ± P cases...
January 16, 2019: Science of the Total Environment
Cihan Inan, N Cenk Sayin, Hakan Gurkan, Selen G Erzincan, Isil Uzun, Havva Sutcu, Engin Atli, Fusun Varol
Amniotic band syndrome can lead to a wide spectrum of congenital abnormalities including orofacial and visceral defects. It is associated with malformations in truncal, craniofacial regions and the limbs, whereas it sometimes may imitate some genetic disorders. Here, we present an atypical case mimicking amniotic band syndrome with a facio-upper arm band that was having multiple fetal structural abnormalities including scoliosis, bilateral cleft lip and palate, upper limb abnormality, unilateral anophthalmia with contralateral microphthalmia, left hypertrophic kidney and severe ventriculomegaly...
January 18, 2019: Journal of Obstetrics and Gynaecology Research
Nicola Marie Stock, Bruna Costa, Jenny Williams, Anna Martindale, The Vtct Foundation Research Team At The Centre For Appearance Research
Fetal anomaly screening at 18-21 weeks now routinely includes cleft lip. If detected, the manner in which the diagnosis is communicated can considerably influence prospective parents' decision-making in regard to further testing and termination of pregnancy (TOP). Given the known psychological impact of an antenatal diagnosis of cleft lip on prospective parents, this study aimed to explore the decision-making process from the parents' perspective, in order to evaluate how well current practice is meeting guidelines...
October 3, 2018: Psychology, Health & Medicine
Kristyna Ceuninck, John M Starbuck
INTRODUCTION: Unilateral cleft lip and palate (UCLP) is a congenital deformity that occurs due to inadequate merging of the nasal and maxillary prominences during fetal development. Randomly distributed bilateral asymmetries known as fluctuating asymmetry (FA) occur in normally symmetric organisms when evolved mechanisms of developmental stability or equilibrium are disturbed by genetic, environmental, or unknown factors. Here we hypothesize that facial skeleton FA will be increased in a sample of individuals born with UCLP (n = 24) relative to sex- and age-matched controls (n = 24)...
September 25, 2018: Clinical Anatomy
Romain Nicot, Daniel Rotten, Yasmin Opdenakker, Bothild Kverneland, Joël Ferri, Gérard Couly, Jean-Marc Levaillant
OBJECTIVES: Craniofacial deformities have a high psychosocial impact. The aim of this paper is to improve obstetric ultrasonography and prenatal detection of facial anomalies by providing a new fetal dental panorama. MATERIAL AND METHODS: The present study describes a new modality to visualize the fetal tooth germs and an easy step-by-step diagnostic approach. Image acquisition was performed between 23 and 32 weeks of gestation using a Voluson E10 GE ultrasound machine with an RM6C transducer (GE Medical Systems, Zipf, Austria)...
August 21, 2018: Clinical Oral Investigations
Xiao-Yan Xu, Xiao-Wei Wei, Wei Ma, Hui Gu, Dan Liu, Zheng-Wei Yuan
Background: The pathogenicity of cleft lip (CL) is pretty complicated since it is influenced by the interaction of environment and genetic factors. The purpose of this study was to conduct a genome-wide screening of aberrant methylation loci in partial lesion tissues of patients with nonsyndromic CL (NSCL) and preliminarily validate candidate dysmethylated genes associated with NSCL. Methods: Fifteen healthy and sixteen NSCL fetal lip tissue samples were collected...
September 5, 2018: Chinese Medical Journal
Matthew J Zdilla, Michelle L Russell, Aaron W Koons
BACKGROUND: Infraorbital nerve blocks are often performed for the management of postoperative pain associated with cleft lip correction. Infraorbital nerve block procedures depend on the identification of the infraorbital foramen; however, there is little information regarding the infraorbital foramen location in the pediatric population. AIMS: The aim of this study was to identify the location of the infraorbital foramen in the pediatric population relative to a midpoint between the nasospinale and jugale...
August 2018: Paediatric Anaesthesia
Marcelo Paulo Vaccari Mazzetti, Nivaldo Alonso, Ryane Schmidt Brock, Alexandre Ayoub, Sally Mizukami Massumoto, Lilian Piñero Eça
Cleft lip and palate is a congenital malformation that requires a multidisciplinary treatment that evolves pediatrician, obstetrics, fetal medicine, genetics, plastic surgery, orthodontics, speech therapist, nursery, and psychology. Actually, the authors believe that it could be possible to ad protocols to use stem cells.The intrauterine diagnosis leads to preborn parental orientation and better parental collaboration to accept a precocious multidisciplinary treatment. After birth the authors' protocol is: orthodontic devices, phonoaudiology, and surgical procedures...
September 2018: Journal of Craniofacial Surgery
Erica Schindewolf, Nahla Khalek, Mark P Johnson, Juliana Gebb, Beverly Coleman, Terrence Blaine Crowley, Elaine H Zackai, Donna M McDonald-McGinn, Julie S Moldenhauer
22q deletion syndrome (22q11.2DS) is most often correlated prenatally with congenital heart disease and or cleft palate. The extracardiac fetal phenotype associated with 22q11.2DS is not well described. We sought to review both the fetal cardiac and extracardiac findings associated with a cohort of cases ascertained prenatally, confirmed or suspected to have 22q11.2DS, born and cared for in one center. A retrospective chart review was performed on a total of 42 cases with confirmed 22q11.2DS to obtain prenatal findings, perinatal outcomes and diagnostic confirmation...
August 2018: American Journal of Medical Genetics. Part A
Crîngu Antoniu Ionescu, Dan Calin, Dan Navolan, Alexandra Matei, Mihai Dimitriu, Catalin Herghelegiu, Liana Ples
RATIONALE: Holoprosencephaly is a structural malformation of the brain that results from the complete or incomplete noncleavage of the forebrain of the embryo into 2 hemispheres. We report a severe case of alobar holoprosencephaly diagnosed at 38 weeks, associated with cebocephaly, microcephaly, and craniosynostosis. PATIENT CONCERN: The main knowledge added by this case is the late ultrasound diagnosis and chromosomal analysis that revealed a very rare abnormality (45X/46,XX/47,XX) with mosaicism at chromosome 18...
July 2018: Medicine (Baltimore)
Florent Fuchs, Julie Burlat, Fréderic Grosjean, Romy Rayssiguier, Guillaume Captier, Jean-Michel Faure, Coralie Dumont
INTRODUCTION: When an orofacial cleft lip is discovered, precise characterization of this malformation is necessary, especially the extension of this cleft to the secondary palate. We aimed to develop and evaluate the feasibility/reproducibility of a score-based quality control for the visualization of the fetal hard palate during the second-trimester scan. MATERIAL AND METHODS: All ultrasound images of fetal hard palate assessed routinely during second-trimester scan were retrospectively retrieved for a 6-month period...
November 2018: Acta Obstetricia et Gynecologica Scandinavica
J Chauvel-Picard, J Massardier, A Gleizal
We describe a paramedian cleft of the lower lip that cannot be explained by embryological development in a child with only one predisposing factor, which was fetal reduction for a multiple pregnancy. To the best of our knowledge, there has been no report of a cleft that has been induced by the reduction of a multifetal pregnancy.
July 2018: British Journal of Oral & Maxillofacial Surgery
Camilla Totaro, Barbara Bortone, Pasqua Putignano, Sara Sollai, Luisa Galli, Maurizio de Martino, Elena Chiappini
Information on prevalence of special needs in internationally adopted children (IAC) is incomplete. We reviewed data from 422 IAC screened at a single Centre in Italy in 2015-16. Prevalence of special needs reached 17.1% (n = 72). Among these children, the most frequent conditions were fetal alcohol spectrum disorders (FASD; n = 30; 7.1%), cleft lip palate (n = 8; 1.9%) and other congenital malformations (n = 20; 4.7%). Worrisomely, 25 out of 52 (48.1%) Russian children presented with FASD.
January 1, 2018: Journal of Travel Medicine
Lisa Crowe, Ruth H Graham, Stephen C Robson, Judith Rankin
Termination of pregnancy for fetal anomaly is legal in the UK with no upper limit, if two doctors, in good faith, agree "there is a substantial risk that if the child were born it would suffer from such physical or mental abnormalities as to be seriously handicapped". This is Clause E of the Human Fertlisation and Embryology Act. The most commonly sighted Clause is C, which states "the pregnancy has not exceeded its twenty-fourth week and that the continuance of the pregnancy would involve risk, greater than if the pregnancy were terminated, of injury to the physical or mental health of the pregnant woman"...
September 2018: European Journal of Medical Genetics
Eva Berenth Paaske, Ester Garne
In 2004 the Danish National Board of Health changed its screening recommendations. Since 2005 a first trimester screening for Down syndrome and a prenatal ultrasound screening for congenital anomalies in the second trimester of pregnancy has been offered to all pregnant women. The aim of this study was to describe the prevalence of cleft lip with or without cleft palate and cleft palate in a Danish area and to describe associated anomalies and the development in prenatal diagnosis over time. The study was based on data from the EUROCAT Registry for Funen County...
September 2018: European Journal of Medical Genetics
Musaed Mohammed Alsebayel, Faisal Abdulrahman Abaalkhail, Faisal Mohammed Alsebayel, Dema A Alissa, Ahmed Hamdan Al-Jedai, Hussien Elsiesy
BACKGROUND Mycophenolate mofetil (MMF) is one of the most commonly prescribed drugs to prevent organ transplant rejection in combination with calcineurin inhibitors and steroids. It has a different toxicity profile than tacrolimus and cyclosporine.  Gastrointestinal tract disturbances are the most common adverse effects. The use of MMF in pregnant women, however, holds great risk of miscarriage and fetal development defects such as external ear malformation, ocular anomalies, cleft lip and palate, and abnormality of distal limbs, heart, esophagus, and kidneys...
May 3, 2018: American Journal of Case Reports
J Chauvel-Picard, A Gleizal
We described the first case of para-commissural cleft of the lower lip in a 2 year-old child. He is from a trichorionic triamniotic triplet pregnancy after ovarian stimulation. He has no history except a selective fetal reduction of the mother. We correct this cleft of the lower lip with a double plasty of Malek. The functional and aesthetic result is satisfactory. This particular cleft cannot be explained by the embryological theory. We favor two hypothesis to explain this anomaly: a vascular origin with the stapedial artery and the selective fetal reduction...
April 19, 2018: Journal of Stomatology, Oral and Maxillofacial Surgery
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