Integrating the Continuum of Genetic Testing From Fetus to Neonate: A Review of Prenatal Genetic Testing and the Overlap With Newborn Testing [0.03%]
从胎儿到新生儿遗传检测连续谱的整合：产前遗传检测与新生儿检测重叠之处综述
Sarah Harris,Neeta L Vora
Sarah Harris
Perinatal genetics is a field that continues to experience rapid advances. Various genetic testing strategies are utilized in the prenatal and neonatal period with significant overlap between them. We summarize currently available diagnosti...
Prevalence of Critical Congenital Heart Defects Among Neonates Born With Abdominal Wall Defects [0.03%]
新生儿腹壁缺陷中严重先天性心脏病的患病率
Zane J Hellmann,Linh Buu,Shahyan Rehman et al.
Zane J Hellmann et al.
Introduction: We hypothesized that there is a higher prevalence of critical congenital heart defects (CCHD) among infants born with gastroschisis, which leads to worse outcomes during index neonatal intensive care unit (N...
The Ultrasound and Genetic Characteristics of Fetuses With Laterality Defects-A Prenatal Cohort in Asian Population [0.03%]
胎儿侧化缺陷的超声波及基因特征-亚洲人群孕期队列研究
Wu Yi,Hua Renyi,Chen Yiyao et al.
Wu Yi et al.
Objective: To investigate the distribution of laterality defects in fetuses, including situs inversus totalis (SIT) and situs ambiguous (SA), and to explore the potential genetic etiology of these laterality defects. ...
First-Trimester Fetal Cardiac Function Measurements Using Spatio-Temporal Image Correlation and Two Ultrasound-Related Post-Processing Methods: A Feasibility and Reproducibility Study [0.03%]
时空图像相关技术及两种超声后处理方法在早孕期胎儿心脏功能检测中的可行性与重复性研究
K Zandbergen,M Rousian,Q C J Griep et al.
K Zandbergen et al.
Objective: To study the feasibility and reproducibility of two ultrasound (US) related post-processing methods for first-trimester fetal cardiac function assessment by ventricle volume measurements. ...
Non-Isolated Congenital Diaphragmatic Hernia. Can We Think of a Beacon of Hope? [0.03%]
非隔离型先天性膈疝能带来希望吗？
Isabella Fabietti,Chiara Vassallo,Milena Viggiano et al.
Isabella Fabietti et al.
Background: The TOTAL Trial demonstrated the efficacy and safety of prenatal treatment of isolated severe left Congenital Diaphragmatic Hernia (CDH). Since this trial was completed, the application of the fetal approach i...
Single-Step Universal First-Trimester Cytomegalovirus Screening and Valacyclovir Prophylaxis in Pregnancy: A Cost-Utility Analysis in a High Seroprevalence Setting [0.03%]
一种一步式的普遍孕早期巨细胞病毒筛查及缬更昔洛韦预防：在高血清阳性率背景下的成本效益分析
Zhi Zhen Lim,Clarence Ong,Ching Yee Chan et al.
Zhi Zhen Lim et al.
Objective: To evaluate the cost-effectiveness of first trimester single-step universal cytomegalovirus (CMV) serological screening with valacyclovir as vertical transmission prophylaxis versus routine ultrasound-directed ...
Open Spinal Dysraphism Without Hindbrain Herniation-Natural History and Postnatal Outcome [0.03%]
无小脑扁桃体疝开放型脊柱裂的自然病史及新生儿结局
I Bedei,C C Kik,R Axt-Fliedner et al.
I Bedei et al.
Objective: To report the natural history of fetuses with open spinal dysraphism (OSD) without hindbrain herniation (HBH) during second-trimester evaluation. ...
The Prenatal Neuro-Radiological Phenotype Associated With a Recurrent Pathogenic Variant in PPP2R1A [0.03%]
PPP2R1A突变的产前神经放射学表型
Calder Hamill,Stacy Goergen,Michael Fahey et al.
Calder Hamill et al.
Background: PPP2R1A-related neurodevelopmental disorder (PPP2R1A-rNDD) is a rare condition marked by developmental delay, intellectual disability, and characteristic brain imaging findings that can be detected on prenatal...
Case Reports
Prenatal diagnosis. 2025 Jul 6. DOI:10.1002/pd.6851 2025
Fetal Anogenital Distance Correlates With Hypospadias and Curvature Severity [0.03%]
胎儿肛生殖距与尿道下裂及阴茎弯曲严重程度相关性研究
Michael Frumer,David Ben-Meir,Rotem Malichi et al.
Michael Frumer et al.
Objective: This study investigates the association between fetal anogenital distance (AGD) and the severity of hypospadias and penile curvature. Methods: ...
A Prospective Evaluation of the Diagnostic Utility for Low-Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis [0.03%]
低覆盖率基因组测序在产前样本诊断中的应用价值评估及其与微阵列比较分析的研究
Yan Yin,Yuxia He,Chun Chen et al.
Yan Yin et al.
Objective: The present study aimed to evaluate the efficacy of LC-GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context. ...