Results 51 to 60 of about 210 (79)

Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 348-352, February 2026.
ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens, Wanwisa van Dijk, Nicole Y. Souren, Merryn V. E. Macville, Guillaume van de Zande, Brigitte H. W. Faas, Bart de Koning, Arthur van den Wijngaard, Sonja de Munnik, Masoud Zamani Esteki   +9 more
wiley   +1 more source

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, Volume 109, Issue 2, Page 211-217, February 2026.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

Chemoattractant receptor homologous to the T helper 2 cell (CRTH2) is not expressed in human amniocytes and myocytes. [PDF]

PLoS ONE, 2012
BACKGROUND: 15-deoxy-Δ 12,14- Prostaglandin J2 (15dPGJ2) inhibits Nuclear factor kappa B (NF-κB) in human myocytes and amniocytes and delays inflammation induced preterm labour in the mouse. 15dPGJ2 is a ligand for the Chemoattractant Receptor Homologous
Lynne Sykes, Yun Lee, Shirin Khanjani, David A Macintyre, Xiao J Yap, Sathana Ponnampalam, Tiong Ghee Teoh, Phillip R Bennett   +7 more
doaj   +1 more source

False Positive or False Negative—An Interesting Case in Prenatal Diagnostic Laboratory

Journal of Clinical Laboratory Analysis, Volume 40, Issue 1, January 2026.
A prenatal case in which discordant results were identified among SNP‐Array, PNBoBs, conventional karyotyping, and FISH, highlighting the importance of recognizing the limitations of various testing techniques for clinicians to avoid misdiagnosis and missed diagnosis.
Pingping Zhang, Yanmei Sun, Haishen Tian, Xuedong Shi, Limin Rong, Yali Li   +5 more
wiley   +1 more source

A Case of Pallister–Killian Syndrome in a Newborn

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Background Pallister–Killian syndrome (PKS) is a rare disorder caused by tissue‐limited mosaicism tetrasomy of chromosome 12p. Affected newborns show a typical dysmorphic pattern: macrosomia, coarse facies, hypertelorism, small nose with long philtrum, V‐shaped upper lip, low set ears, frontotemporal alopecia, and patchy pigmentary skin and hair ...
Giulia Di Donato, Chiara Cauzzo, Paola Cicioni, Teresa Topazio, Valentina Chiavaroli, Chiara Palka Bayard De Volo, Elisena Morizio, Francesco Chiarelli, Susanna Di Valerio, Richa Sharma   +9 more
wiley   +1 more source

Identification of Rare SRY‐Positive Females Without Sex Reversal Carrying Complex X;Y Translocations and SHOX Duplication in a Three‐Generation Pedigree

Human Mutation, Volume 2026, Issue 1, 2026.
Background and Aims The sex‐determining region Y (SRY) gene is a key regulator of testicular development; its presence in females typically causes gonadal dysgenesis and virilization. We report a three‐generation pedigree of SRY‐positive females without sex reversal with complex chromosomal aberrations.
Xiaoqin Zeng, Dongzhi Li, Han Jin, Fatao Li, Simin Yuan, Yongling Zhang, Yuze Ma, Yaojuan He, Ru Li, Fan Jiang, Miklos Sahin -Toth   +10 more
wiley   +1 more source

Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: We present prenatal diagnosis and molecular genetic analysis of mosaic trisomy 17 and a review of the literature of mosaic trisomy 17 at amniocentesis. Materials and Methods: A 42-year-old woman underwent amniocentesis at 17 weeks of gestation
Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Yen-Ni Chen, Shin-Wen Chen, Peih-Shan Wu, Dai-Dyi Town, Chen-Wen Pan, Chien-Wen Yang, Wayseen Wang   +9 more
doaj   +1 more source

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant

Prenatal Diagnosis, Volume 45, Issue 13, Page 1783-1786, December 2025.
Abstract Joubert syndrome is a rare autosomal recessive ciliopathy defined by the “molar tooth” sign caused by cerebellar vermis hypoplasia and abnormal superior cerebellar peduncles. Over 40 genes are known to cause the disorder, including KIAA0586, which encodes the centrosomal protein TALPID3, essential for ciliogenesis and Hedgehog signaling ...
Tamara Casteleyn, Markus Vogt, Alexander Weichert, Béla Zimmer, Birgit Lala, Wolfgang Henrich, Josefine Theresia Königbauer   +6 more
wiley   +1 more source

Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3–q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1

Taiwanese Journal of Obstetrics & Gynecology, 2015
Objective: The aim of this research was to present prenatal diagnosis of Langer-Giedion syndrome (LGS/TRPS type II) and Cornelia de Lange syndrome-4 (CDLS4).
Chih-Ping Chen, Ming-Huei Lin, Yi-Yung Chen, Schu-Rern Chern, Yen-Ni Chen, Peih-Shan Wu, Chen-Wen Pan, Meng-Shan Lee, Wayseen Wang   +8 more
doaj   +1 more source

A Prospective Evaluation of the Diagnostic Utility for Low‐Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis

Prenatal Diagnosis, Volume 45, Issue 12, Page 1525-1538, November 2025.
ABSTRACT 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. Methods We conducted a prospective study involving 200 amniotic fluid samples.
Yan Yin, Yuxia He, Chun Chen, Yanyan He, Jin Wang, Shengfang Qin, Hongna Wang, Kun Ma, Dahui Hu, Rui Xiao, Gang Wang, Xueyan Wang   +11 more
wiley   +1 more source