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International Journal of Gynaecology... Dec 2023Treacher Collins syndrome (TCS) should be suspected if the triad of micrognathia, glossoptosis, and posterior cleft palate, and deformed external ears are observed... (Review)
Review
Treacher Collins syndrome (TCS) should be suspected if the triad of micrognathia, glossoptosis, and posterior cleft palate, and deformed external ears are observed during prenatal ultrasonography, excepting Pierre Robin sequence. Visualization of the fetal zygomatic bone and down-slanting palpebral fissures are conducive to differentiation. Molecular genetics testing can establish a definite diagnosis. A 28-year-old pregnant Chinese woman was referred for systematic ultrasound examination at 24 weeks. Two-dimensional and three-dimensional ultrasound showed polyhydramnios, micrognathia, absence of nasal bone, microtia, secondary cleft palate, mandibular hypoplasia, glossoptosis, and normal limbs and vertebrae. Pierre Robin sequence was misdiagnosed with the triad of micrognathia, glossoptosis, and posterior cleft palate. Final diagnosis of TCS was confirmed by whole-exome sequencing. Visualization of the fetal zygomatic bone and down-slanting palpebral fissures can facilitate a differential diagnosis between Pierre Robin sequence and TCS, with the triad of micrognathia, glossoptosis, and posterior cleft palate.
Topics: Pregnancy; Female; Humans; Adult; Mandibulofacial Dysostosis; Pierre Robin Syndrome; Micrognathism; Glossoptosis; Cleft Palate; Prenatal Diagnosis
PubMed: 37231986
DOI: 10.1002/ijgo.14881 -
Journal of the Formosan Medical... Sep 2023An Oesophageal atresia (OA) affects almost 1 in 3500 newborn and its aetiology for development between 4th to 6th pregnancy weeks had not yet been clarified. (Observational Study)
Observational Study
BACKGROUND
An Oesophageal atresia (OA) affects almost 1 in 3500 newborn and its aetiology for development between 4th to 6th pregnancy weeks had not yet been clarified.
METHODS
This retrospective, observational control group-supported (n = 30) examination was performed with OA mothers (n = 20) who were interrogated via specialized questionnaires and interviews to evaluate data on medical pregnancy history including hormonal treatment, changing of life habits (nutrition, diet, medication), drug consumption (alcohol, smoking, illicit drugs) as well as exposure to nuclear waste or poisonous substance exposition. Aim was to assess risk factors during pregnancy and in particular in the first trimester.
RESULTS
The body mass index (BMI) prior pregnancy of OA mothers was significant lower (p = 0.022) and the number of mothers with obesity (BMI>30) did not differ to control group mothers (p = 0.081). They had additionally more pre-existing illnesses (p = 0.009) and allergies (p = 0.001). Control group mothers changed dietary habits with higher meat (p = 0.032) and caffeine intake (p = 0.012) compared to OA mothers, which had higher rates of abnormalities during pregnancy (p < 0.001) and 38.7% of them suffered of ≥1 abortion in the past. The ethnical background of OA mothers was more often German (p < 0.033), while OA fathers had a lower socioeconomic status (p = 0.039).
CONCLUSION
Maternal factors like previous abortions, obesity and immunological predispositions like existence of allergies combined with increased daily dairy consumption influenced obviously the occurrence of OA.
Topics: Female; Humans; Infant, Newborn; Pregnancy; Esophageal Atresia; Obesity; Parents; Retrospective Studies; Risk Factors
PubMed: 36925362
DOI: 10.1016/j.jfma.2023.03.001 -
International Journal of Pediatrics &... Sep 2022Laryngeal web is a rare congenital or acquired disease that results in airway stenosis. Depending on the severity of atresia, patients with laryngeal web show a wide...
Laryngeal web is a rare congenital or acquired disease that results in airway stenosis. Depending on the severity of atresia, patients with laryngeal web show a wide variety of symptoms ranging from asymptomatic to life-threatening respiratory dysfunction that may require emergency tracheostomy immediately after birth. We report a neonatal case of laryngeal web with 22q11.2 deletion syndrome. Post-delivery, the infant showed dysphonia and had a ventricular septal defect with characteristic craniofacial features. The infant underwent an endoscopic incision of the web and cardiac surgery. Among patients with laryngeal web, 30% have 22q11.2 deletion syndrome. 22q11.2 deletion syndrome is the most common chromosomal microdeletion syndrome and the second most common chromosomal abnormality associated with congenital heart disease. Therefore, if an infant has laryngeal web with comorbidities such as congenital heart disease, 22q11.2 deletion syndrome should be considered in differential diagnosis.
PubMed: 36090132
DOI: 10.1016/j.ijpam.2022.02.001 -
International Journal of Gynaecology... Jun 2023To evaluate whether the risk of fetal malpresentation following mechanical labor induction could be accurately predicted.
OBJECTIVE
To evaluate whether the risk of fetal malpresentation following mechanical labor induction could be accurately predicted.
METHODS
A retrospective study, including all individuals who underwent labor induction at a single tertiary medical center between March 2011 and May 2021. Cohorts of pharmacological (n = 16 480) and mechanical labor induction (n = 6864) were compared, determining malpresentation rate following induction. Individuals with and without fetal malpresentation following balloon placement were compared.
RESULTS
Malpresentation following balloon placement occurred in 62 patients (0.9%). Those patients with malpresentation following balloon placement were older, had higher body mass index during labor, higher parity, polyhydramnios, higher fetal station at the start of labor induction, and delivered at an earlier gestational age compared with control patients. The combined presence of at least three of these risk factors was associated with a malpresentation rate of 8% (7/88) and yielded a positive likelihood ratio of 9.48 (95% confidence interval [CI] 4.57-19.7). A prediction model using these variables was not sufficiently accurate to predict the risk of malpresentation following balloon labor induction; a calculated area under the generated receiver operating characteristic curve was 0.78 (95% CI 0.72-0.84).
CONCLUSION
Several risk factors were identified for malpresentation following mechanical labor induction, although these were of low predictive value.
Topics: Female; Pregnancy; Humans; Cesarean Section; Retrospective Studies; Labor, Induced; Labor Presentation; Parity
PubMed: 36527251
DOI: 10.1002/ijgo.14629 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Oct 2021Perlman syndrome is a rare autosomal recessive congenital overgrowth syndrome caused by pathogenic variants of the DIS3L2 gene at 2q37 region. Clinically this syndrome...
Perlman syndrome is a rare autosomal recessive congenital overgrowth syndrome caused by pathogenic variants of the DIS3L2 gene at 2q37 region. Clinically this syndrome is characterized by polyhydramnios, macrosomia, distinctive facial appearance, and renal dysplasia. Prognosis of the disease is poor, and survivors usually have mental delay and a high risk of developing Wilms tumor. At present, the pathogenesis of this disease is still poorly understood. This article intends to provide a review for this disease.
Topics: Female; Fetal Macrosomia; Humans; Kidney Tubules, Proximal; Pregnancy; Syndrome; Wilms Tumor
PubMed: 34625946
DOI: 10.3760/cma.j.cn511374-20200717-00525 -
Current Vascular Pharmacology 2023Twin pregnancy is associated with an increased risk of perinatal and maternal complications, and early establishment of the chorionicity type defines this risk. In... (Review)
Review
Twin pregnancy is associated with an increased risk of perinatal and maternal complications, and early establishment of the chorionicity type defines this risk. In monochorionic (MC) pregnancies, the fetuses share the same placental mass and exhibit vascular anastomoses crossing the intertwin membrane, and the combination and pattern of anastomoses determine the primary clinical picture and occurrence of future complications. Twin Anemia-Polycythemia Sequence (TAPS) was first described in 2006 after fetoscopic laser surgery in twin-to-twin transfusion syndrome (TTTS) twins, and in 2007, the first spontaneous cases were reported, recognizing TAPS as an individualized vascular identity in fetofetal transfusion syndromes. There are two types of TAPS: spontaneous (3-5%) and iatrogenic or postlaser (2-16%). TAPS consists of small diameter arteriovenous anastomoses (<1 mm) and low-rate, small-caliber AA anastomoses in the absence of amniotic fluid discordances. There are certain antenatal and postnatal diagnostic criteria, which have progressively evolved over time. New, additional secondary markers have been proposed, and their reliability is being studied. The best screening protocol for TAPS in MC twins is still a matter of debate. This review provides a survey of the relevant literature on the epidemiology, vascular pathophysiology, underlying hemodynamic factors that regulate mismatched vascular connections, and diagnostic criteria of this condition. The aim is to increase awareness and knowledge about this recently identified and frequently unrecognized and misdiagnosed pathology.
Topics: Pregnancy; Female; Humans; Placenta; Polycythemia; Reproducibility of Results; Fetofetal Transfusion; Pregnancy, Twin
PubMed: 36718965
DOI: 10.2174/1570161121666230131112930 -
Archives of Disease in Childhood. Fetal... Mar 2022Oesophageal atresia (OA) is a major anomaly of varying severity. The complexity of surgical correction highly depends on the gap length of missing oesophagus and the...
OBJECTIVE
Oesophageal atresia (OA) is a major anomaly of varying severity. The complexity of surgical correction highly depends on the gap length of missing oesophagus and the presence of a distal fistula. The aim of this study was to identify antenatal sonographic findings associated with presence of a distal fistula and type of surgical repair METHODS: Prenatal medical records of neonates postnatally diagnosed with OA were reviewed. Sonographic signs of OA (small/absent stomach, polyhydramnios, oesophageal pouch) and the trimester at sign detection were recorded and compared between (1) OA with and without a distal fistula and (2) early one-step versus delayed two-step anastomosis. Multivariate analysis was performed.
RESULTS
Overall, 80 cases of OA were included. Absence of a distal fistula was significantly associated with higher rates of small/absent stomach (100% vs 28.6%, P<0.0001), oesophageal pouch (100% vs 24.3%, P<0.0001) and severe polyhydramnios (66.7% vs 22.9%, P=0.006), compared with OA with a distal fistula.Cases requiring a delayed two-step repair had higher rates of small/absent stomach (84.2% vs 16.7%, P>0.0001), severe polyhydramnios (47.4% vs 16.7%, P=0.008) and oesophageal pouch (73.7% vs 18.5%, P<0.0001), compared with those corrected in an early one-step anastomosis.Multivariate logistic regression found small/absent stomach and pouch to be significantly and independently associated with a delayed two-step anastomosis.
CONCLUSION
OA without a distal fistula is associated with higher rates of prenatal sonographic signs. Both small/absent stomach and a pouch are independently associated with a delayed two-step anastomosis. These findings may help improve antenatal parental counselling regarding the anticipated surgical repair.
Topics: Anastomosis, Surgical; Esophageal Atresia; Female; Humans; Pregnancy; Prenatal Diagnosis; Retrospective Studies; Tracheoesophageal Fistula; Ultrasonography, Prenatal
PubMed: 34321245
DOI: 10.1136/archdischild-2021-321836 -
Journal of Clinical Medicine Nov 2021Although gastroschisis is often diagnosed by prenatal ultrasound, there is still a gap in the literature about which prenatal ultrasound markers can predict complex... (Review)
Review
Although gastroschisis is often diagnosed by prenatal ultrasound, there is still a gap in the literature about which prenatal ultrasound markers can predict complex gastroschisis. This systematic review and meta-analysis aimed to investigate the ultrasound markers that characterize complex gastroschisis. A systematic review of the literature was conducted according to the guidelines of PRISMA. The protocol was registered (PROSPERO ID CRD42020211685). Meta-analysis was displayed graphically on Forest plots, which estimate prevalence rates and risk ratios, with 95% confidence intervals, using STATA version 15.0. The combined prevalence of intestinal complications in fetuses with complex gastroschisis was 27.0%, with a higher prevalence of atresia (about 48%), followed by necrosis (about 25%). The prevalence of deaths in newborns with complex gastroschisis was 15.0%. The predictive ultrasound markers for complex gastroschisis were intraabdominal bowel dilatation (IABD) (RR 3.01, 95% CI 2.22 to 4.07; I = 15.7%), extra-abdominal bowel dilatation (EABD) (RR 1.55, 95% CI 1.01 to 2.39; I = 77.1%), and polyhydramnios (RR 3.81, 95% CI 2.09 to 6.95; I = 0.0%). This review identified that IABD, EABD, and polyhydramnios were considered predictive ultrasound markers for complex gastroschisis. However, evidence regarding gestational age at the time of diagnosis is needed.
PubMed: 34830497
DOI: 10.3390/jcm10225215 -
Journal of Family Medicine and Primary... May 2021Chorioangioma is the most common benign non trophoblastic tumor of the placenta. It is a rare presentation with incidence of 0.6-1% of all pregnancies. It is associated...
Chorioangioma is the most common benign non trophoblastic tumor of the placenta. It is a rare presentation with incidence of 0.6-1% of all pregnancies. It is associated with feto maternal complications like polyhydramnios, cervical incompetence, preterm labor, increased rate of cesarean delivery, abruptio placentae, malpresentation, postpartum hemorrhage, fetal growth restriction, fetal anemia, fetal thrombocytopenia, non immune hydrops, fetal cardiac failure, cerebral embolism, cerebral infarction, intrauterine fetal and neonatal death. Ultrasound is the gold standard for diagnosis . Here we present a case of giant chorioangioma of 6 * 5 cm with complication of polyhydramnios, preterm labor, abruptio placenta and placenta previa successfully managed with good maternal and fetal outcome.
PubMed: 34195146
DOI: 10.4103/jfmpc.jfmpc_2462_20