Respiratory conditions
David M. Luesley, Mark D. Kilby in Obstetrics & Gynaecology, 2016
Prednisolone is the oral steroid of choice for pregnancy, as 88 percent of it is metabolised by the placenta, limiting fetal exposure. The teratogenic risk and possible harmful fetal effects of maternal steroid treatment remain an area of controversy. Initial worries about an association with isolated cleft lip have been allayed by a recent case–control study which did not support the original animal experimental work [B].6 However, a subsequent meta-analysis has once again confused the debate with a statistically significant three-fold increase in oral clefting risk for steroid use in the first trimester [A].6 Newer anxieties have arisen about associations with intrauterine growth restriction, neuronal development, long-term hypertension and preterm labour.
Palatal obturators for cleft palate patients
R.M. Natal Jorge, J.C. Reis Campos, Mário A.P. Vaz, Sónia M. Santos, João Manuel R.S. Tavares in Biodental Engineering IV, 2017
According to Glossário de Termos Prostodôn-ticos (Glossary of Prosthodontic Terms), palatal obturators are maxillofacial prosthesis used to block congenital (e.g. palatal clefts) or acquired (e.g. tumour removal) palatal openings, while maintaining the integrity of the oral and nasal compartments.[2] Palatal clefts are congenital malformations that result from a failure of the palate formation process, which leads to the separation of the oral and nasal cavities.[3] Its occurrence in isolated form (not related to cleft lip) is of approximately 1 in every 1500 births, occuring mostly in women.[4] Consequences of this anomaly are not limited to aesthetic deformation, but also to distorted speech, dental anomalies, and changes in swallowing, hearing, and inappropriate personality development.[5]
Neurologic disorders in pregnancy
Hung N. Winn, Frank A. Chervenak, Roberto Romero in Clinical Maternal-Fetal Medicine Online, 2021
All WWE should be offered prenatal screening for fetal malformation: maternal serum alpha-fetoprotein testing at 14 to 16 weeks of gestation and structural ultrasonography at 16 to 20 weeks of gestation (51). Performed together, these tests have more than 95% sensitivity in detecting open NTDs. Patients with equivocal results should undergo amniocentesis, which increases the sensitivity to more than 99%. Cardiac anomalies can also be diagnosed prenatally with detailed sonographic imaging of the fetal heart (18–20 weeks of gestation), which is 85% sensitive. The accuracy of ultrasonography for the prenatal diagnosis of cleft lip is less well established. The screening test has inherent ethical implications and may lead to difficult choices if a problem appears to be present.
Cone beam computed tomography imaging of superior semicircular canal morphology: a retrospective comparison of cleft lip/palate patients and normal controls
Published in Acta Odontologica Scandinavica, 2018
Oğuzhan Altun, Suayip Burak Duman, Ibrahim Sevki Bayrakdar, Yasin Yasa, Sacide Duman, Sevcihan Günen Yılmaz
Cleft lip and palate (CL/P) is a common birth defect (∼9.1 cases per 10,000 births) and varies by ethnic group, geographical location and socioeconomic conditions [1]. A cleft palate is attributable to complete or incomplete assembly of the medial nasal prominence(s) on one or both sides [2]. A CL/P compromises hearing, speech and facial configuration. For several reasons, it is essential to explore the relationship between CL/P and other malformations. In addition, the association of CL/P with other congenital anomalies would increase our understanding of the embryogenic situation underlying the malformation [3]. Children with CL/P experience feeding difficulties, dental anomalies (e.g. tooth agenesis or supernumary teeth) and an increased risk of infection; they may also eventually develop speech and socio-psychological problems because they are stigmatized. A CL/P occurs more often in newborn males than females. Although facial regions near the cleft may experience delayed growth, surgical intervention allows individuals born with a CL/P to exhibit craniofacial, catch-up skeletal growth [4,5]. As a CL/P can affect maxillofacial bone structure, we explored whether semicircular canal dehiscence (SSCD) is more common in CL/P patients than normal controls.
Association of Fetal MTHFR 677C > T Polymorphism with Non-Syndromic Cleft Lip with or without Palate Risk: A Systematic Review and Meta-Analysis
Published in Fetal and Pediatric Pathology, 2021
Abdolhamid Amooee, Seyed Alireza Dastgheib, Seyed Mohammadreza Niktabar, Mahmood Noorishadkam, Mohamad Hosein Lookzadeh, Seyed Reza Mirjalili, Naeimeh Heiranizadeh, Hossein Neamatzadeh
Craniofacial anomalies, particularly cleft lip/palate (CL/P), are among the most common birth defects. They affect approximately 1 in 700 births, a frequency which may differ according to the geographical region and socio-economic level. NSCL ± P is a complex disorder that does not have clear Mendelian patterns of inheritance [1,2]. However, a high frequency of familial clustering and higher concordance rates in monozygotic twin implicate genetic factors in NSCL ± P development. Genetic mutations have been estimated to cause approximately 20% of all NSCL ± P cases [3,4]. In the last decade, exhaustive efforts have been devoted to unraveling the genetic underpinning of NSCL ± P, and hundreds of loci and variants have been hypothesized to be involved in the pathogenesis of the disease. Among them, genetic variations in methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR) and methionine synthase reductase (MTRR) genes have been assessed as potential risk factor in development of congenital malformations [5,6].
First trimester prenatal detection of mosaic trisomy 8
Published in Journal of Obstetrics and Gynaecology, 2021
Li Wan, Dan Yang, Bi-Qiu Xu, Li Zhen, Yan-Dong Yang, Dong-Zhi Li
A 37-year-old G2P1 woman was referred to our centre for prenatal diagnosis at 11 weeks of gestation. She had a healthy 6-year-old girl. The mother had a routine first-trimester scan at another clinic with her nuchal translucency (NT) measured 1.0 mm. She opted for cell-free DNA-based NIPT instead of a direct invasive procedure after a detailed genetic counselling. The NIPT result was available at 12 weeks of gestation, and reported a low risk for common aneuploidies, but a high risk for trisomy 8 (Z-score 9.44) (Figure 1(A)). Considering the very low positive predictive values (PPVs) of rare autosomal trisomies (RATs) in NIPT, follow-up ultrasound examinations were recommended. A first-trimester anatomic scan revealed cleft palate in the foetus with a crown rump length of 5.3 mm and NT thickness of 1.8 mm (Figure 1(B)). No other obvious anomalies were noted. After another genetic counselling, the woman opted for genetic testing by amniocentesis. At 16 weeks of gestation, a repeat scan confirmed the cleft lip and palate with no other notable findings. Amniocentesis was offered at 16 weeks, and a microarray analysis using CytoScan 750 K Array (Affymetrix Inc., Santa Clara, CA) revealed a male karyotype with an estimated 40% mosaicism for trisomy 8. The cell culture, however, showed a chromosome formula of 46,XY in 50 metaphases examined.
Related Knowledge Centers
- Birth Defect
- Obesity
- Otitis Media
- Palate
- Nasal Cavity
- Lip
- Prenatal Development
- Risk Factor
- Smoking & Pregnancy
- Diabetes & Pregnancy