Prenatal Diagnosis of White-Sutton Syndrome Associated With Autosomal Dominant POGZ Variants Presented With Craniofacial Abnormalities and Borderline Microcephaly Identified in the Second Trimester [0.03%]
产前诊断出与自动显性POGZ变异相关的White-Sutton综合征并伴有颅面畸形和边线微小头症案例
Ping Liu,Hong-Yu Luo,Dong-Zhi Li
Ping Liu
Case Reports
Prenatal diagnosis. 2026 Jun 4. DOI:10.1002/pd.70193 2026
Yuehua Zhang,Yingying Wang,Xinlong Wang et al.
Yuehua Zhang et al.
Objective: Many systematic reviews (SRs) report the accuracy of prenatal Down syndrome screening, but their methodological quality has not been comprehensively evaluated. This umbrella review assessed the quality, compare...
Impact of Prenatal Cell-Free DNA Screening on Sex Chromosome Aneuploidy Diagnoses in Infants and Children [0.03%]
孕产妇进行游离DNA筛查对新生儿和儿童性染色体异常诊断的影响
Ellen Kim DeLuca,Ann Chen Wu,Fang Zhang et al.
Ellen Kim DeLuca et al.
Objective: Prenatal cell-free DNA (cfDNA) screening increasingly includes sex chromosome aneuploidy (SCA) screening, despite variation in test accuracy and expressivity. This study evaluated changes in pediatric SCA diagn...
Middle Cerebral Artery Doppler and Cerebroplacental Ratio Predict Adverse Neurological Outcomes in Fetal Growth Restriction [0.03%]
胎儿生长受限中脑动脉多普勒和胎盘脑血流比值可预测不良神经系统结局
Silvia Visentin,Ambrogio Pietro Londero,Giulia Lo Storto et al.
Silvia Visentin et al.
Objective: To assess the efficacy of middle cerebral artery (MCA) Doppler ultrasonography in predicting neurological and respiratory outcomes in fetuses with fetal growth restriction (FGR) and to establish a correlation b...
Latin American Multicenter Study of Fetal Endoscopic Tracheal Occlusion for Severe Left Diaphragmatic Hernia [0.03%]
南美严重左膈疝胎儿内镜气管堵塞的多中心研究
Rogelio Cruz-Martínez,Savino Gil-Pugliese,Rodrigo Ruano et al.
Rogelio Cruz-Martínez et al.
Objective: To evaluate the survival outcomes of fetuses with severe left congenital diaphragmatic hernia (CDH) treated with fetal endoscopic tracheal occlusion (FETO) in Latin American centers. ...
Evaluation of Maternal Safety Following Prenatal Cell and Gene Therapy for Hemophilia A [0.03%]
评估宫内治疗甲型血友病的细胞和基因疗法的安全性
Quan Minh Pham,Martin Rodriguez,Ritu M Ramamurthy et al.
Quan Minh Pham et al.
Objective: Maternal safety is extremely important in prenatal therapies, especially if the product could impact the pregnant women. Methods: ...
Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure [0.03%]
GLDC变异所致双胎严重非酮症高甘氨酸血症病例：产前变异解读、咨询和告知VUS的重要性
Christopher Connolly,Brian Muchmore,Mallory Wagner et al.
Christopher Connolly et al.
Case Reports
Prenatal diagnosis. 2026 May 26. DOI:10.1002/pd.70186 2026
Prenatal Phenotype of Common Arterial Trunk With Tricuspid Atresia and Bilateral Cleft Lip-Palate With Novel MASP1 Variant [0.03%]
三尖瓣闭锁和常见动脉干合并双侧唇腭裂的宫内表型与MASP1新变异研究
Kakoly Borthakur
Kakoly Borthakur
Case Reports
Prenatal diagnosis. 2026 May 25. DOI:10.1002/pd.70187 2026
Risk Factors for Adverse Outcome in Fetuses With Heterotaxy Syndrome and Congenital Heart Disease [0.03%]
心脏畸形并异位症胎儿不良结局的危险因素分析
Anita Szwast,Jill J Savla,Chris Penney et al.
Anita Szwast et al.
Objective: Fetuses with heterotaxy syndrome and congenital heart disease have high morbidity and mortality. We sought to identify risk factors impacting survival in the current era. ...
Prenatal and Perinatal Outcomes in Fetuses With Macrocystic Congenital Pulmonary Airway Malformations: Thoracoamniotic Shunting Versus Expectant Management [0.03%]
大囊型先天性肺泡畸形胎儿的宫内胸腔-羊膜腔分流术与期待治疗的围生期结局分析
Laurence Sophie Carmant,Alexandria Kelly,SeungWoo Lee et al.
Laurence Sophie Carmant et al.
Objective: Describe prenatal imaging characteristics, perinatal and postnatal outcomes in fetuses with isolated macrocystic congenital pulmonary airway malformations (CPAM) undergoing thoracoamniotic shunting (TAS) and ex...