Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13 [0.03%]
用于快速确认高风险无创性产前检测的绒毛取样以诊断21-三体，18-三体和13-三体综合征
Malgorzata I Srebniak,Marjolein Weerts,Marieke Joosten et al.
Malgorzata I Srebniak et al.
Objectives: International societies recommend amniocentesis (AC) after high-risk non-invasive prenatal testing (NIPT) because of potential inconclusive results from chorionic villus sampling (CVS) caused by placental mosa...
Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome [0.03%]
枕部脑膜脑膨出、多小脑回、眼部异常及小脑蚓部发育不良：Knobloch综合征的产前征兆
Laurence Sophie Carmant,Elka Miller,David Chitayat et al.
Laurence Sophie Carmant et al.
Knobloch Syndrome-1 is a rare autosomal recessive disorder typically diagnosed postnatally and characterized by occipital encephalocele, high myopia, and vitreoretinal degeneration. We describe a fetus with a constellation of prenatal neuro...
Case Reports
Prenatal diagnosis. 2025 Jun 16. DOI:10.1002/pd.6838 2025
A Zambiasi,J Aziza,N Chassaing et al.
A Zambiasi et al.
Case Reports
Prenatal diagnosis. 2025 Jun 13. DOI:10.1002/pd.6825 2025
Prenatally Detected Maternally Inherited Partial Duplication of 11p15.5 ICR1 Results in Phenotypes Overlapping Russell-Silver Syndrome in Infancy [0.03%]
孕期检测到母系遗传的11p15.5 ICR1区部分重复导致婴儿期与Russell-Silver综合征重叠的表型
Amanda Thomas-Wilson,Mythily Ganapathi,Nina Harkavy et al.
Amanda Thomas-Wilson et al.
Differentially methylated regions (DMRs) in certain areas of the genome are subject to genomic imprinting. DMRs at chromosome 11p15.5 are associated with Beckwith-Wiedemann syndrome (BWS) and Russell-Silver Syndrome (RSS), two growth disord...
Case Reports
Prenatal diagnosis. 2025 Jun 12. DOI:10.1002/pd.6832 2025
Usha D Nagaraj,Jonathan A Dudley,Kristin Lam et al.
Usha D Nagaraj et al.
Objective: To evaluate differences in diffusion tensor imaging (DTI) parameters in the brain between fetuses with congenital diaphragmatic hernia (CDH) and age-matched controls. ...
Christopher D Porada,Anthony Atala,Graça Almeida-Porada
Christopher D Porada
Hemophilia A (HA) is the most common inherited coagulation defect. Current state-of-the-art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that rep...
Contractures of the Hands As a Prenatal Phenotype of CACNA1A-Related Disorder [0.03%]
CACNA1A相关疾病的手部产前表型-合指畸形
Lara Menzies,Alexander Gibbs,Tazeen Ashraf et al.
Lara Menzies et al.
Case Reports
Prenatal diagnosis. 2025 May 30. DOI:10.1002/pd.6827 2025
Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2 [0.03%]
在患有颅顶 ectodermal 错构样畸形 2 的胎儿中鉴定出 WDR35 基因复合杂合变异导致的剪接异常
Cong Zhou,Xihan Wang,Shuo Yang et al.
Cong Zhou et al.
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive ciliopathy with significant involvement of the skeleton, ectoderm, retina, kidneys, liver, lungs, and occasionally the brain. Cranioectode...
Case Reports
Prenatal diagnosis. 2025 May 30. DOI:10.1002/pd.6821 2025
Post-Axial Polydactyly and Postnatal Pulmonary Stenosis Observed With a SPRED1 Pathogenic Variant [0.03%]
SPRED1病理性变异所致的后天轴多指（趾）畸形和先天性肺动脉狭窄
Alexander Gibbs,Muriel Holder-Espinasse,Vijaya Ramachandran et al.
Alexander Gibbs et al.
Case Reports
Prenatal diagnosis. 2025 May 28. DOI:10.1002/pd.6829 2025
Clinical Utility and Yield of Carrier Exome Sequencing in High-Risk Indian Couples [0.03%]
高风险印度夫妇的携带者外显子组测序的临床效用和阳性率
Mounika Endrakanti,Sarath R S,Neerja Gupta et al.
Mounika Endrakanti et al.
Objective: To evaluate the diagnostic yield and spectrum of monogenic disorders identified through exome sequencing (ES) based couple carrier screening in high-risk couples. ...