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Neurologic disorders in pregnancy
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Robert Burger, Terry Rolan, David Lardizabal, Upinder Dhand, Aarti Sarwal, Pradeep Sahota
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.
Common Tips on Communication
Published in Justin C Konje, Complete Revision Guide for MRCOG Part 3, 2020
Your baby has an abnormality known as cleft lip. This is a birth defect in which the baby’s upper lip is not formed completely and has a gap in it. This may be on one side of the face or may involve both sides. A cleft lip may occur on its own or may be associated with a cleft palate, which is the presence of a gap in the roof of the mouth. It can also be left, right or bilateral. Approximately 1 in 700 children are affected.
Genetics and metabolic disorders
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
Maternal diabetes increases the risk of congenital heart disease and spinal malformations. Optimal control minimizes this risk. Excessive maternal ingestion of alcohol increases the risk of microcephaly, growth retardation, intellectual deficit and facial dysmorphism. Maternal ingestion of phenytoin is also associated with a syndrome of low birth weight, mental retardation, unusual facies and congenital heart defect. The incidence of cleft lip and palate is increased. The ingestion of salicylates during pregnancy is not considered to have any teratogenic effect and neither is maternal smoking.
Building the speech-language pathology workforce in Cambodia through the lens of the Sustainable Development Goals
Published in International Journal of Speech-Language Pathology, 2023
Ruth Bryce, Catherine Easton, Debbie Bong, Chenda Net, Samnang Chan, Jennifer Knight
Distribution of services was evenly spread across health (n = 9), education (n = 9) and disability/rehabilitation (n = 10) with the majority of services provided by private facilities and in urban areas (Table I). Accessibility in provincial areas was limited: centre-based services (n = 2) and outreach service (n = 3). The data demonstrate a significant economic and access gap between urban and rural contexts. The majority of services (n = 12) provided support for children with a range of communication or swallowing difficulties (Table II), this included two specialist services for children with cleft lip/palate. Support for adults was limited to swallowing (n = 1) or hearing (n = 2) difficulties. No services were available for adults with communication difficulties or children and adults with acquired brain injury, aphasia or motor speech difficulties.
Assessment of auditory processing in children with non-syndromic cleft lip and/or palate
Published in Hearing, Balance and Communication, 2022
Melika Zarei, Zahra Hosseini Dastgerdi, Alireza Momeni, Nayyereh Sadat Nouri
A total of 23 children with CLP and CP in the age range of 8 to 12 years were enrolled in this study through the convenience sampling method from children visiting the cleft lip and/or palate clinic of Isfahan University of Medical Sciences with regard to inclusion criteria. All children were diagnosed with CLP and CP, of whom four had submucosal cleft palate. Eighteen children underwent surgery before 2 years of age and one at the age of 3.5 years. Those with submucosal cleft had not underwent surgery when the study was carried out. All children attended public schools. Thirty children without craniofacial anomalies in the age range of 8 to 12 years were selected as the control group through the simple random sampling method from suburban schools of Isfahan University of Medical Sciences with regard to inclusion criteria.
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.