• 45,X/46,XX at amniocentesis associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and in different amniocenteses and a favorable fetal outcome with a normal karyotype at birth
• 45,X/46,XX at the first amniocentesis, and 45,X/47,XXX/46,XX at the repeat amniocentesis and at birth in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the 45,X cell line and cytogenetic discrepancy between cultur
• A 29-Year-Old Patient With Patau Syndrome: A Case Report on Medical Management
• A Case of Maternal Uniparental Disomy of Chromosome 6 with Intrauterine Growth Restriction
• A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication
• Accidental discovery of copy number variation on chromosome 1 in a fetus with high risk of trisomy 13 suggested by NIPT
• Analysis results of 169 cases of chorionic villus samples of missed abortion using high throughput sequencing
• Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis
• Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies
• Birth after low-level +20 Aneuploid Mosaic Embryo Transfer: A Case Report
• Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases
• Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature
• Cell type-specific enrichment of somatic aneuploidy in the mammalian brain
• Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array
• Chromosome analysis of foetal tissue from 1903 spontaneous abortion patients in 5 regions of China: a retrospective multicentre study
• Clinical and genetic analysis of a case of Turner syndrome with rapidly progressive puberty and a literature review
• Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies
• Clinical impacts of genome-wide noninvasive prenatal testing for rare autosomal trisomy
• Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium
• Combined first-trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide data on prenatal profiles and detection compared with NIPT
• Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting
• Cytogenetic study of subtypes of Down syndrome and its relation with pattern of congenital cardiac defects
• Delineation of a mosaicism fetal supernumerary marker chromosome with combined genetic techniques
• Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication
• Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience
• Genetic analysis of a fetus with mosaic trisomy 12 and severe heart defects and a literature review
• Genetic analysis of the false positive trisomy 7 and false negative trisomy 18 by NIPT-PLUS
• Genetic origin analysis of regions of homozygosity in three cases
• Healthy Live Births after the Transfer of Mosaic Embryos: Self-Correction or PGT-A Overestimation?
• High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line
• How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark
• Incidence and Types of Fetal Chromosomal Abnormalities in First Trimester of Thai Pregnant Women between Miscarriages and Intrauterine Survivals
• Incidental detection of familial 8p23.2 microduplication encompassing CSMD1 associated with mosaic 46,XY,t(7;8)(q31.2;p23.1)/46,XY at amniocentesis in a pregnancy with no apparent phenotypic abnormality and a favorable outcome
• Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of <em>SPTB</em>
• Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations
• Late amniocentesis with uniparental disomy testing following successful in vitro fertilization and transfer of three mosaic embryos in a pregnancy with a favorable outcome
• Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results
• Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome
• Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues
• Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a positive NIPT result suspicious of trisomy 13, a CVS result of mosaic trisomy 13, cytogenetic discrepancy in various tissues and a favorable fetal outcome
• Low-level mosaic trisomy 15 at amniocentesis without uniparental disomy 15 in a pregnancy associated with cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes, a favorable fetal outcome and perinatal decrease of the aneuploid cell
• Low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes
• Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with positive NIPT and CVS results for trisomy 2, maternal uniparental disomy 2, perinatal progressive decrease of the aneuploid cell line, cytogenetic discrepancy between cultured amni
• Low-level mosaic trisomy 20 without uniparental disomy 20 at amniocentesis in a pregnancy associated with a favorable outcome, cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes and perinatal progressive decrease of the aneuploi
• Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with a negative NIPT result, cytogenetic discrepancy in various tissues, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome
• Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome
• Low-level mosaic trisomy 9 at amniocentesis associated with a positive non-invasive prenatal testing for trisomy 9, maternal uniparental disomy 9, intrauterine growth restriction and a favorable fetal outcome in a pregnancy
• Low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with a favorable fetal outcome, intrauterine growth restriction, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and perinatal progressive decrease of the
• Low-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line
• Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter?
• Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in <em>SPR</em> and <em>ZNF142</em> : A Case Report and Review of the UPD2 Literature
• Mosaic 46,XY,der(15)t(6;15)(q25.1;p12)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the unbalanced translocation
• Mosaic embryo transfer-first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15
• Mosaic tetrasomy 9p at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy in various tissues
• Mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line
• Mosaic trisomy 21 at amniocentesis in a twin pregnancy associated with a favorable fetal outcome, maternal uniparental disomy 21 and postnatal decrease of the trisomy 21 cell line
• Mosaicism for a 15q11.2 microduplication with a normal euploid cell line at amniocentesis in a pregnancy with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the microduplication
• Mosaicism for Robertsonian jumping translocation at amniocentesis: 45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY, genetic counseling, prenatal diagnosis and postnatal follow-up in a pregnancy with a favorable fetal outcome
• Mosaicism for trisomy 13 in a single colony at amniocentesis in a pregnancy associated with a favorable outcome
• Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy)
• Non-mosaic trisomy 22 and congenital heart surgery using the shared decision making model: a case report
• Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis
• Papillary renal neoplasm with reverse polarity may be a novel renal cell tumor entity with low malignant potential
• Patau Syndrome
• Patau Syndrome
• Perinatal detection of disomy X cell line by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome
• Perinatal outcomes of prenatal cases testing positive for trisomy 9 by noninvasive prenatal testing
• Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis
• Phenotypic Spectrum of Trisomy 18 Mosaicism: a New Patient and Literature Review
• Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review
• Pitfalls and management of corrective spinal surgery in trisomy 9 mosaicism: a report of three cases
• Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials
• Positive non-invasive prenatal testing for Turner syndrome and low-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome and a normal 46,XX karyotype at birth
• Prenatal and fetal diagnosis of trisomy 18 after low-risk cell-free fetal DNA screening: A report of four cases
• Prenatal diagnosis and molecular genetic analysis of recurrent trisomy 18 of maternal origin in two consecutive pregnancies
• Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses
• Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening
• Prenatal Sonographic Features of Rare Chromosome 13 Aberrations
• Prevalence of high-penetrant copy number variants in 7,734 low-risk pregnancies
• Prevalence of high-penetrant copy number variants in 7734 low-risk pregnancies
• Previously reported and here added cases demonstrate euploid pregnancies followed by PGT-A as "mosaic" as well as "aneuploid" designated embryos
• Relationships among maternal monosomy X mosaicism, maternal trisomy, and discordant sex chromosome aneuploidies
• Report content and prenatal diagnosis of non-invasive prenatal testing for sex chromosome aneuploidy
• Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p
• Ruptured Sinus of Valsalva Aneurysm Diagnosed on Coronary Computed Tomography Angiography in a Patient With Trisomy 13 Syndrome
• Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX
• Successful oral midodrine therapy for treatment of refractory postoperative chylothorax in an infant
• Ten-year survival of children with trisomy 13 or trisomy 18: a multi-registry European cohort study
• The correlation with abnormal fetal outcome and a high level of amniotic fluid alpha-fetoprotein in mid-trimester
• The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study
• Trisomy 13
• Trisomy 13
• Trisomy 21-driven metabolite alterations are linked to cellular injuries in Down syndrome
• Trisomy X conferring moderate hemophilia A by extremely skewed X-chromosome inactivation
• Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results
• Two clinical case reports of embryonic mosaicism identified with PGT-A persisting during pregnancy as true fetal mosaicism
• Unique Challenges of NIPT for Sex Chromosome Aneuploidy
• Use of the MS-MLPA assay in prenatal diagnosis of Prader-Willi syndrome with mosaic trisomy 15
• Value of non-invasive prenatal testing for rare autosomal trisomies in fetuses
• Whole-Chromosome Karyotyping of Fetal Nucleated Red Blood Cells Using the Ion Proton Sequencing Platform