Results 31 to 40 of about 7,985 (170)

Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic double trisomy involving trisomy 7 and trisomy 20 (48,XY,+7,+20) at amniocentesis

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present mosaic double trisomy involving trisomy 7 and trisomy 20 at amniocentesis in a pregnancy with a favorable outcome. Case report: A 41-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Meng-Shan Lee, Yun-Yi Chen, Wayseen Wang   +8 more
doaj   +3 more sources

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 16

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16. Case report: A 28-year-old woman underwent amniocentesis at 17 weeks of gestation because of
Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang   +8 more
doaj   +2 more sources

Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present prenatal diagnosis of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome. Case Report: A 40-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age.
Chih-Ping Chen, Tsang-Ming Ko, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang   +10 more
doaj   +2 more sources

Low-level mosaic trisomy 14 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, positive non-invasive prenatal testing for trisomy 14, perinatal progressive decrease of the trisomy 14 cell line and a favorable fetal outcome

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present low-level mosaic trisomy 14 at amniocentesis. Case report: A 37-year-old, gravida 2, para 1, woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age.
Chih-Ping Chen, Fang-Tzu Wu, Shu-Yuan Chang, Peih-Shan Wu, Yen-Ting Pan, Meng-Shan Lee, Chien-Ling Chiu, Wayseen Wang   +7 more
doaj   +2 more sources

Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis. [PDF]

Mol Genet Genomic Med, 2023
We described the clinical phenotypes and various prenatal diagnostic processes used for two rare cases of 9p duplication mosaicism and reviewed the prior literature in the field to evaluate the merits of different methods for diagnosing mosaic 9p duplication.
Zhang S, Zhou Y, Xiao G, Qiu X.
europepmc   +2 more sources

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples. [PDF]

Prenat Diagn
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Vladoiu MC, Zhao S, Zemet R, Parobek CM, Sinson JC, Tankersley S, Van den Veyver IB, Liu P.   +7 more
europepmc   +2 more sources

Array of Testing Characterizes Prenatal Diagnosis of Mosaic Tetrasomy 9p24q22.3 Associated With an Unusually Mild Phenotype and Favourable Outcome. [PDF]

Mol Genet Genomic Med
Tetrasomy 9p is a rare chromosomal disorder with distinct clinical features, but wide phenotypic variability. Historically, tetrasomy 9p has been detected by conventional cytogenetic analysis, but newer technologies such as non‐invasive prenatal testing (NIPT) and chromosome microarray (CMA) allow the identification of cases that would previously have ...
Lee C, Casey E, Amor DJ.
europepmc   +2 more sources

False Positive or False Negative-An Interesting Case in Prenatal Diagnostic Laboratory. [PDF]

J Clin Lab Anal
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.
Zhang P, Sun Y, Tian H, Shi X, Rong L, Li Y.   +5 more
europepmc   +2 more sources

Second Prenatal Diagnosis of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome in a Fetus With a 5q14.3q15 Deletion: A Case Report and Review of the Literature. [PDF]

Clin Case Rep
ABSTRACT This case demonstrates the value of cell‐free DNA (cfDNA) screening for detecting subchromosomal microdeletions in fetuses with non‐specific prenatal screening abnormalities and no overt structural malformations on ultrasound; CMA and karyotyping confirmation and integrated genetic counseling are essential for diagnosing 5q14.3q15 deletion ...
Hao Y, Huang Q, Xu Y, Li X, Li P, Wu W, Wu B, Liu W.   +7 more
europepmc   +2 more sources

A Case of Pallister-Killian Syndrome in a Newborn. [PDF]

Case Rep Genet
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 ...
Di Donato G, Cauzzo C, Cicioni P, Topazio T, Chiavaroli V, Volo CPB, Morizio E, Chiarelli F, Valerio SD.   +8 more
europepmc   +2 more sources