Diagnostic Accuracy of Estimated Fetal Weight Discordance in Predicting Birthweight Discordance in Monochorionic Twins: A Retrospective Cohort Study [0.03%]
估算单绒毛膜双胎胎儿体重不一致以预测出生体重差异的诊断准确性：回顾性队列研究
Jip A Spekman,E J T Joanne Verweij,Femke Slaghekke et al.
Jip A Spekman et al.
Objective: To evaluate the diagnostic accuracy of sonographic estimated fetal weight discordance (EFWD) ≥ 20% in predicting birthweight discordance (BWD) ≥ 20% (i.e., selective fetal growth restriction [sFGR]) in monoch...
A Decade of Prenatal Genetic Diagnostics: Insights From 1949 Cases at a Medical Genetics Facility in South India [0.03%]
印度南部一家医学遗传学机构的孕前基因诊断十年回顾：1949例经验教训
Roopadarshini Balasubramanian,Prathyusha Koneru,Harika Patnaik Chinchilam et al.
Roopadarshini Balasubramanian et al.
Objective: Our objective was to report on the performance of prenatal diagnostic procedures for genetic testing in a developing country. Method: ...
The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia [0.03%]
超声表型优化以提高对软骨发育不全非侵入性产前诊断(NIPD)阳性预测值的价值评估
Camille Verebi,Victor Gravrand,Claire Guerini et al.
Camille Verebi et al.
Objectives: Achondroplasia is the most common form of skeletal dysplasia and is usually suspected in the third trimester of pregnancy based on abnormal sonographic findings. Non-invasive prenatal diagnosis (NIPD), based o...
Margot Comel,Marina Lamairia,Odile Boute et al.
Margot Comel et al.
Objective: To report the incidental detection of maternal somatic mosaicism during the development of exclusion-based non-invasive prenatal diagnosis for monogenic disorders (NIPD-MD) initially indicated for apparently de...
Novel Biallelic Variants in CPOX Gene in a Case of Hereditary Coproporphyria With Antenatal Onset and Adverse Neonatal Outcome: A Potential Diagnostic Clue of Harderoporphyria? [0.03%]
CPOX基因双等位变异在先天性遗传性ocoproporphyria中致病作用的研究：是否为硬卟啉症的潜在诊断线索？
Chiara Patelli,Gabriele Tonni,Maria Iascone et al.
Chiara Patelli et al.
Case Reports
Prenatal diagnosis. 2025 Aug 6. DOI:10.1002/pd.6871 2025
mRNA Expression to Assess Hypoxia and Angiogenesis in Decidual Tissue of Term Fetuses With a Congenital Heart Disease [0.03%]
评估胎盘组织中胎儿先天性心脏病的缺氧及血管生成的mRNA表达式型
Maartje C Snoep,Marie-Louise P van der Hoorn,Moska Aliasi et al.
Maartje C Snoep et al.
Objective: Delayed fetal neurodevelopment, lower birth weight, and placental abnormalities are related to congenital heart defects (CHD). We explored mRNA expression assessment of candidate genes related to fetal hypoxia ...
Role of Biologics in Fetal Hematologic Conditions: HDFN and FNAIT [0.03%]
生物制剂在胎儿血液学疾病中的作用：同种免疫溶血性疾病和胎儿新生儿免疫性贫血
Kenneth J Moise
Kenneth J Moise
Maternal alloimmunization to fetal red cell and platelet antigens results in the formation of IgG antibodies that can be transported across the placenta. In more severe cases, the resulting hemolytic disease of the fetus/newborn (HDFN) is m...
International Society for Prenatal Diagnosis 2024 Debate 3-Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies [0.03%]
国际产前诊断学会2024年辩论3-细胞遗传学是恐龙时代的产物，应被分子技术取代
Yassmine M N Akkari,Michael E Talkowski,Amy M Breman
Yassmine M N Akkari
Cytogenetic technologies such as G-banding chromosome and FISH analyses have long been the gold standard diagnostic test in prenatal genetic testing. However, unbiased next-generation sequencing technologies such as fetal exome or genome se...
Neurosonographic Evaluation of Cerebral Cortical Development in Fetuses With Congenital Heart Disease: A Systematic Review of the Literature [0.03%]
胎儿先天性心脏病儿大脑皮质发育的神经超声评估：文献系统评价
Marcelo Dantas Cerqueira Monteiro,Thatiane Lopes Valentim Di Paschoale Ostholin,Miriam Pérez-Cruz et al.
Marcelo Dantas Cerqueira Monteiro et al.
This systematic review collated data from neurosonography and ultrasound evaluations to assess changes in the cortical development of fetuses with congenital heart disease (CHD). Of the 135 articles identified by two independent reviewers, ...
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis [0.03%]
prenatal Hereditary Pyropoikilocytic 胎儿遗传性火焰球形红细胞性贫血的诊断与管理
Connor Hartzell,Samantha Stover,Nora Gibson et al.
Connor Hartzell et al.
Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. I...