Prenatally diagnosed omphaloceles: Report of 92 cases and association with Beckwith-Wiedemann syndrome [0.03%]
先天性脐膨出92例分析及与贝克威斯-威德曼综合征的关系
Nimrah Abbasi,Aideen Moore,Priscilla Chiu et al.
Nimrah Abbasi et al.
Objective: Describe the prevalence, perinatal and long-term outcomes of Beckwith-Wiedemann syndrome (BWS) among prenatally detected omphaloceles. Methods:...
The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting [0.03%]
固定神经发育基因列表外显子组数据分析的诊断效能：围产期的应用意义
Rivka Sukenik-Halevy,Noa Ruhrman-Shahar,Naama Orenstein et al.
Rivka Sukenik-Halevy et al.
Objective: Laboratories performing prenatal exome sequencing (ES) frequently limit analysis to predetermined gene lists. We used a diagnostic postnatal ES cohort to assess how many of the genes diagnosed are not included ...
Not all low fetal fraction cell-free DNA screening failures are at increased risk for aneuploidy [0.03%]
胎儿游离DNA筛查失败的新生儿并不都存在染色体异常的高风险
Samantha Caldwell,Eyad Almasri,Lindsey Schmidt et al.
Samantha Caldwell et al.
Objective: To evaluate cell-free DNA (cfDNA) redraws and pregnancy outcomes following low fetal fraction (FF) cfDNA failures, as it has been suggested that a failed cfDNA screen due to insufficient FF carries increased ri...
Umbilical cyst associated with patent urachus that spontaneously disappeared: A case report [0.03%]
脐尿管未闭合并脐部囊肿的自发消退一例报告
Yuya Fujibe,Tasuku Mariya,Masahito Mizuuchi
Yuya Fujibe
Case Reports
Prenatal diagnosis. 2021 Feb;41(3):384-385. DOI:10.1002/pd.5889 2021
Francesca M Russo,Anne Debeer,Paolo De Coppi et al.
Francesca M Russo et al.
Congenital diaphragmatic hernia (CDH) is characterized by a defect in the muscle dividing the thoracic and abdominal cavities. This leads to herniation of the abdominal organs into the thorax and a disturbance of lung development. Two-third...
Analyses stratified by maternal age and recombination further characterize genes associated with maternal nondisjunction of chromosome 21 [0.03%]
基于母体年龄和重组的分析进一步表征了与21号染色体母源不分离相关的基因
Jonathan M Chernus,Stephanie L Sherman,Eleanor Feingold
Jonathan M Chernus
Objective: In our previous work, we performed the first genome-wide association study to find genetic risk factors for maternal nondisjunction of chromosome 21. The objective of the current work was to perform stratified ...
Magnesium sulfate titration reduces maternal complications following fetoscopic closure of spina bifida [0.03%]
硫酸镁滴定可减少胎儿镜手术治疗脊柱裂的母体并发症
Lucy Lehoczky,Annie B Southworth,Gabriela Z Martinez et al.
Lucy Lehoczky et al.
Objective: To evaluate if magnesium sulfate (MgSO4 ) titration following fetoscopic spina bifida closure is associated with fewer maternal complications than the Management of Myelomeningocele Study (MOMS) tocolytic regim...
Eran Kassif,Tal Weissbach,Oshrat Raviv et al.
Eran Kassif et al.
Objective: To describe the sonographic appearance of the fetal esophagus during early pregnancy and evaluate the feasibility of imaging the entire esophageal length. In addition, we present a case of disrupted esophageal ...
Observational Study
Prenatal diagnosis. 2021 Jun;41(7):861-867. DOI:10.1002/pd.5920 2021
Ayana L Henderson,Monica P Colaiácovo
Ayana L Henderson
Epidemiological studies continue to reveal the enduring impact of exposures to environmental chemicals on human physiology, including our reproductive health. Phthalates, a well characterized class of endocrine disrupting chemicals and comm...
The impact of the emergence of COVID-19 on women's prenatal genetic testing decisions [0.03%]
新冠肺炎出现对孕妇进行产前基因检测决策的影响分析
Ruth M Farrell,Madelyn Pierce,Christina Collart et al.
Ruth M Farrell et al.
Objective: We conducted a study to examine the impact of COVID on patients' access and utilization of prenatal genetic screens and diagnostic tests at the onset of the COVID-19 pandemic in the United States. ...