Results 51 to 60 of about 4,289 (137)
ABSTRACT Objectives Our aim was to examine the prenatal profiles of pregnancies affected by an atypical chromosomal aberration, focusing on pathogenic copy‐number variants (pCNVs). We also wanted to quantify the performance of combined first‐trimester screening (cFTS) and a second‐trimester anomaly scan in detecting these aberrations. Finally, we aimed
K. Gadsbøll +6 more
wiley +1 more source
Abstract An efficient, multidimensional instrument is needed to screen non‐optimal prenatal parental representations predictive of postnatal parenting behavior and child attachment. The present work aimed to revise and validate the Prenatal Caregiving Expectations Questionnaire—Revised (PCEQ‐R).
Katrine Røhder +5 more
wiley +1 more source
目的探讨二维超声和三维超声检查在产前胎儿畸形筛查中的应用价值,评价其在产前诊断中的应用效果。方法选择56例接受二维和三维超声产前检查并经引产或随访证实有胎儿畸形的孕妇作为研究对象,观察记录56例孕妇共58个畸形胎儿的畸形情况,比较观察二维超声和三维超声检查结果。结果 56例孕妇共检出58个胎儿,最终随访结果发现75处胎儿畸形,其中腹部畸形最多,共27处,占36.0%。三维超声在评价颅面部、脊柱四肢以及体表处的畸形效果优于二维超声,但差异无统计学意义(P>0.05);三维超声总的畸形检出率为92.0 ...
韩锁凤
doaj
Prevention of hemoglobinopathies in Turkey
Hemoglobinopathies are the most common genetic disorders in Turkey. The incidence of beta thalassemia and sickle cell trait (HbAS) is 2.0% and 0.3% respectively. In addition to HbS, 51 abnormal hemoglobins and 42 different beta thalassemia mutations have
Mehmet Akif Çürük +2 more
doaj +1 more source
ABSTRACT Objectives An increased nuchal translucency (NT) thickness of ≥ 3.5 mm is a well‐established marker for congenital anomalies and adverse pregnancy outcome between 11 and 14 weeks' gestation, but little is known about its performance as a screening tool before 11 weeks.
B. B. Bet +5 more
wiley +1 more source
目的评价妊娠中期孕妇血清(AFP、β-hCG和uE3)三联法筛查在唐氏综合征、18三体综合征和神经管缺陷的临床应用价值,评价羊水细胞染色体分析对诊断胎儿染色体异常的临床应用价值。方法对46 576例孕14-21周的孕妇采用时间分辨免疫荧光法(DELFLA)进行血清AFP、Free-βHCG和uE3浓度的检测,结合孕周、体重、年龄等因素,通过风险评估软件进行风险评估。将筛查结果与B超、羊水染色体分析、新生儿检查结果对照。结果 46 576例孕妇中筛查出唐氏综合征高危妊娠2356例,筛查阳性率为5.06 ...
陆丹
doaj
目的 探讨实时剪切波弹性成像(RTSWE)对宫颈癌前病变及宫颈癌的筛查价值。方法 回顾性选取2021年10月至2022年3月期间在长春市妇产医院检测出宫颈病变且接受实时剪切波弹性成像检查的40例已婚女性患者,通过组织病理结果,将其分为宫颈上皮内瘤变(n=25)和宫颈癌组(n=15),并取同期在医院进行体检的健康者25例作为对照组,比较3组宫颈弹性成像图像、弹性模量最大值及平均值,并绘制受试者工作特征(ROC)曲线,计算曲线下面积(AUC),综合评定RTSWE的诊断价值。结果 ...
张健 +4 more
doaj
ABSTRACT Objective Although remarkable strides have been made in fetal medicine and the prenatal diagnosis of congenital heart disease, around 60% of newborns with isolated coarctation of the aorta (CoA) are not identified prior to birth. The prenatal detection of CoA has been shown to have a notable impact on survival rates of affected infants.
C. A. Taksøe‐Vester +8 more
wiley +1 more source
地中海性贫血(地贫)是广东地区常见的地方性遗传疾病,已引起社会各界的高度重视。地中海贫血筛查已成为广东地区婚前检查、产前检查的常规项目。目前用于地贫初筛的试验主要有脆性试验和血红蛋白电泳,确证试验为PCR方法进行基因分析。本研究对2013年1月至3月的检测结果进行分析,以探讨初筛试验的性能和本地区地中海贫血的主要型别。1对象与方法1 ...
黄金文, 黄瑞洪
doaj
Prenatal diagnosis and postnatal outcome of Type‐III vasa previa: systematic review of literature
ABSTRACT Objective Type‐III vasa previa (VP) is a rare form of VP, not necessarily associated with other placental or vascular anomalies, in which aberrant vessels run from the placenta to the amniotic membranes, near the internal cervical os, before returning to the placenta. Early diagnosis of Type‐III VP is important but technically challenging. The
M. Pozzoni +7 more
wiley +1 more source

