Results 41 to 50 of about 676,369 (155)
目的探讨无创产前基因检测(NIPT)技术在产前诊断中的分析效能和临床应用价值。方法回顾性分析2013年9月至2018年12月于北京大学深圳医院就诊的545例NIPT筛查高风险并接受羊水穿刺孕妇(不包括双胎孕妇)的产前诊断结果。结果 545例NIPT高风险的孕妇中,21-三体165例、18-三体67例、13-三体41例、性染色体数目异常202例、常染色体数目异常49例、缺失或重复序列超过10Mb的结构异常病例21例,结合羊水细胞染色体核型分析发现21、18、13及性染色体NIPT假阳性率分别为11.5 ...
王贺, 肖晓素, 西仁娜依
doaj
Abstract Objectives Neonates with critical congenital heart disease (CCHD) are at risk for adverse early brain development and long‐term neurodevelopmental sequelae. Insulin‐like growth factor‐1 (IGF‐1) and insulin‐like growth factor binding protein‐3 (IGFBP‐3) are essential contributors to brain growth and maturation.
M. Nijman +33 more
wiley +1 more source
本文对我院产前诊断80例形态结构异常患儿病例进行回顾性分析,探讨三维超声在产前诊断胎儿形态结构异常中的临床价值。1资料与方法1 ...
张歆 +6 more
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Background – Canine atopic dermatitis (cAD) is a chronic, inflammatory, multifactorial and pruritic disease. The presence of skin barrier impairment (e.g. filaggrin alterations), along with abnormal immune responses, can negatively impact cutaneous barrier function.
Wendie Roldan Villalobos +5 more
wiley +1 more source
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 Monochorionic diamniotic (MCDA) twins with selective fetal growth restriction (sFGR) and either continuous (cAREDF) or intermittent (iAREDF) absent or reversed end‐diastolic flow in the umbilical artery face significant fetal and neonatal risks.
A. T. R. Noll +19 more
wiley +1 more source
ABSTRACT Objectives To investigate the impact of aspirin administration on the incidence of preterm birth, according to the type of delivery and gestational age at preterm birth, and to examine the hypothesis that aspirin delays preterm delivery. Methods This was a secondary analysis of a multicenter stepped‐wedge cluster randomized trial of a first ...
H. H. Y. Leung +29 more
wiley +1 more source
Hemoglobinopathies (HBP) are the most common genetic disorder in Oman and are in need of prevention programs due to the high incidence of β-thalassemia major and sickle cell disease. Prenatal diagnosis (PD) and selective pregnancy termination is shown to
Suha Mustafa Hassan +3 more
doaj +1 more source
ABSTRACT Objective To evaluate the presence and levels of cytomegalovirus (CMV) cell‐free DNA (cfDNA) fragments in women pregnant with a fetus with symptomatic congenital CMV (cCMV). Methods The study comprised nine women whose fetuses were diagnosed with cCMV between June 2019 and July 2024 at 20 + 4 to 34 + 1 weeks' gestation (n = 8) or neonatally (n
B. H. W. Faas +9 more
wiley +1 more source
病例资料患者,女,37岁,因"维持性血液透析10年,左上肢内瘘血管杂音消失2 h"入院。已诊断"慢性肾脏病5期、慢性肾小球肾炎、肾性高血压、肾性贫血",5年前诊断"重度骨质疏松、肾性骨病、甲状旁腺功能亢进",2015年5月至北京中日友好医院行甲状旁腺切除术、左上肢动静脉内瘘重建术。生育史:G3P1,顺产1女婴,入院前因"停经50 d",妇产彩超诊断"早孕"。目前以人工血管为血液透析通路2年余,行每周3次血液透析治疗 ...
LU Yong-xin +5 more
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