Fetal Cleft lip

Cleft lip, with or without cleft palate, is the most common congenital craniofacial anomaly and the second most common birth defect worldwide. Micrognathia is a rare facial malformation characterized by small, underdeveloped mandible and frequently associated with retrognathia. Second- and third-trimester prenatal ultrasound is the standard modality for screening and identification of fetal orofacial abnormalities, with a detection rate in the low-risk population ranging from 0% to 73% for all types of cleft...

BACKGROUND: Despite being underreported, orofacial cleft lip/palate (CLP) remains in the top five of South Africa's most common congenital disorders. Maternal air pollution exposure has been associated with CLP in neonates. South Africa has high air pollution levels due to domestic burning practices, coal-fired power plants, mining, industry, and traffic pollution, among other sources. We investigated air pollutant levels in geographic locations of CLP cases. METHODS: In a retrospective case series study (2006-2020) from a combined dataset by a Gauteng surgeon and South African Operation Smile, the maternal address at pregnancy was obtained for 2,515 CLP cases...

We present the case of a 41-year-old man with Rapp-Hodgkin syndrome who underwent nasal septum deviation surgery under general anaesthesia. This syndrome is rare, with approximately 70 cases reported worldwide. It is one of a group of ectodermal dysplasia syndromes and results from the aberrant development of ectoderm during fetal development. Some of the clinical features may affect anaesthetic management. The most important considerations are potentially difficult airway management, the need for meticulous temperature control, and the importance of skin protection...

INTRODUCTION: Relevance of fetal brain MRI in cases of cleft lip and/or palate (CL/P) is still discussed to date. The aim of our study was to review the contribution of fetal brain MRI for detecting cerebral anomalies in cases of CL/P comparing antenatal data with neonatal outcomes. METHODS: A retrospective multicenter study was conducted from January 2010 to October 2020 in two multidisciplinary prenatal diagnosis centers (MDPDCs) among women with a fetal US diagnosis of CL/P...

Influenza A virus (IAV) infection during pregnancy disrupts maternal and fetal health through biological mechanisms, which are to date poorly characterised. During pregnancy, the viral clearance mechanisms from the lung are sub-optimal and involve hyperactive innate and adaptive immune responses that generate wide-spread inflammation. Pregnancy-related adaptations of the immune and the cardiovascular systems appear to result in delayed recovery post-viral infection, which in turn promotes a prolonged inflammatory phenotype, increasing disease severity, and causing maternal and fetal health problems...

Children born with clefts encounter various postnatal issues which have a negative impact and long-term psychological effects on both the parents and themselves. This systematic review aims to find the accuracy of two-dimensional (2D)/3D scans for screening cleft lip and palate which would help the parents to be mentally and psychologically prepared to plan for future surgeries. To identify relevant literature, an electronic search was performed using PubMed, Trip database, Cochrane, and Google Scholar database...

Goltz syndrome is a rare X-linked dominant multisystem disorder that presents with ectoderm and mesoderm-derived symptoms. Skin manifestations including congenital patchy skin aplasia, congenital nodular fat herniation, congenital hypo- or hyperpigmentation along Blaschko's lines, telangiectasia, and congenital ridged dysplastic nails are typical in this disorder. Almost all cases of Goltz syndrome correspond to female newborns and that hemizygosis makes the syndrome fetal in males. Triple X syndrome is a relatively common congenital disorder that presents with mild to no symptoms in the developmental and psychiatric realm...

Teratomas are tumors composed of multiple embryonic germ layers of tissue, and those occurring in the tongue of the fetus are extremely rare. This paper reports the case of a 20-week-old fetus diagnosed with oral masses combined with a cleft lip and palate using prenatal ultrasonography. The patient decided to terminate the pregnancy due to economic factors after prenatal genetic consultation. The mother underwent induction termination and delivered a stillborn male fetus. The mass originated from the tongue and was pathologically confirmed as a mature teratoma by histology...

Ankyloblepharon filiforme adnatum (AFA) is a rare, benign congenital anomaly. Notably, it is characterized by the adhesion of the ciliary edges of the upper and lower eyelids at the trabecular line. AFA is usually a solitary malformation of sporadic occurrence; however, it can occur in conjunction with other congenital diseases. Herein, we report a case of cleft lip with AFA. A patient was referred to the ophthalmology department of our hospital. The ophthalmic diagnosis was AFA in both the eyes. The left eye was observed to have a fibrous adhesion in the center, and she underwent surgery to excise the fibrous adhesion of tissue with scissors...

OBJECTIVES: To introduce an ultrasound training program for fetal palate screening by using a sequential sector scan through the oral fissure to train less experienced doctors and to investigate its effectiveness. METHODS: Twenty doctors and several women at approximately 20-28 weeks of gestation with singleton pregnancies who provided informed consent were enrolled. The training program consisted of theory and practice training, several tests, and two surveys...

This study evaluated the impact of elevated body mass index (BMI) on short- and long-term outcomes of in-vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) treatments. A total of 7229 patients undergoing IVF/ICSI fresh cycles and subsequent frozen embryo transfer cycles from 2014 to 2020 were divided into normal (18.5-24.9 kg/m2 ) and high BMI (≥ 25 kg/m2 ) groups. Ovarian response, pregnancy outcomes, and safety of both mother and fetus were the main outcome measures. Furthermore, multivariate analysis was used to determine whether BMI was associated with cumulative live birth rate (CLBR)...

OBJECTIVE: Assess the impact of prenatal diagnosis of Robin sequence (RS) on parental experience during gestation and early infancy. DESIGN: Prospective case-control study. An online survey was administered via email to 44 parents representing 34 unique patients with RS. PARTICIPANTS: Parents of children diagnosed with RS and who received mandibular distraction at our tertiary care children's hospital. Participants were separated by the timing of RS diagnosis into prenatal and control postnatal groups...

OBJECTIVES: To study the correlations between facial profile markers and crown-lump length (CRL) in a Chinese population, and to evaluate the clinical value of these markers for abnormal fetuses during the first trimester (11 to 13+6 gestational weeks).  METHODS: The facial profile markers were as followings: inferior facial angle (IFA), maxilla-nasion-mandible (MNM) angle, facial maxillary angle (FMA), frontal space (FS) distance and profile line (PL) distance. These markers were measured in facial mid-sagittal section through ViewPoint 6 software...

OBJECTIVE: To evaluate the local incidence of orofacial cleft (OFC) encountered in fetal morphology scan and prenatal diagnosis, genetic etiology of fetuses with or without other structural abnormalities, and their pregnancy outcomes. DESIGN: Retrospective cohort study. SETTING: Two maternal fetal medicine units, tertiary hospitals, Hong Kong. PARTICIPANTS: All pregnant women with antenatal diagnosis of fetal OFC between January 2016 and December 2020 (N = 66)...

OBJECTIVE: Measure condition-specific detection rates for 14 physical conditions screened for by the NHS fetal anomaly screening programme (FASP) fetal anomaly (FA) ultrasound scan. DESIGN: Retrospective audit of 12,694 diagnoses across a three-year national cohort. SETTING: All English NHS and crown dependency hospital trusts providing maternity services. POPULATION: Pregnancies booked for maternity services with an expected date of delivery between 1 April 2017 to 31 March 2020 and at least one diagnosis of a condition screened for by FASP...

PURPOSE: The purpose of this study was to describe a rare case of a child with bilateral central corneal dermoids (grade III) in association with fetal valproate spectrum disorder (FVSD) and to report the spontaneous regression of these tumors. METHODS: Clinical records of a 14-month-old child whose mother took sodium valproate all along her pregnancy were retrospectively reviewed. The diagnosis of FVSD was made based on phenotypic features and associated congenital malformations...

Nonsyndromic cleft lip with palate (nsCLP) is a common congenital malformation; however, early prenatal diagnosis is challenging and pathogenesis remains unclear. The purpose of this study was to determine the diagnostic potential of miRNAs in plasma-derived exosomes and whole plasma of pregnant women to identify nsCLP and an underlying mechanism. Combined RNA sequencing analysis was performed on samples from plasma exosomes and whole plasma of pregnant women carrying normal fetuses or fetuses with nsCLP in an ongoing birth cohort, in addition to lip samples from nsCLP fetuses and healthy controls...

Objectives To evaluate the value of the mandible transection head-side shifting method (MTHSM) by 2-dimensional sonography in the screening of fetal cleft lip and palate (CLP) during the nuchal translucency scans. Methods A total of 7,336 fetuses enrolled for first-trimester aneuploidy screening were included in this prospective study. A sequential scanning approach from the mandible transection toward the head was used for the assessment of the palate in the midsagittal, axial, and coronal sections. To observe the continuity of the palatal line, upper alveolar ridge, and primary palate...

As a result of evolution, human babies are born with outstanding abilities for human communication and cooperation. The other side of the coin is their great sensitivity to any clear and durable violation in their relationship with caregivers. Infant sustained social withdrawal behavior (ISSWB) was first described in infants who had been separated from their caregivers, as in Spitz's description of "hospitalism" and "anaclitic depression." Later, ISSWB was pointed to as a major clinical psychological feature in failure-to-thrive infants...

Quercetin is a flavonoid with a wide range of pharmacological activities, including anticancer, antioxidant, and anti-inflammatory effects. Since it is a nutrient that can be consumed with a regular diet, quercetin has recently garnered interest. Quercetin acts as a phytochemical ligand for the aryl hydrocarbon receptor (AhR). Cleft lip and palate are among the most frequently diagnosed congenital diseases, and exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) during pregnancy induces cleft palate via AhR...