Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis

Prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with ventriculomegaly and dysgenesis of the corpus callosum

(2020) Chih-Ping Chen et al.   Taiwanese Journal of Obstetrics & Gynecology

Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities

(2020) Yanmei Sun et al.   Molecular Cytogenetics

Society for Maternal-Fetal Medicine (SMFM) Consult Series #52: Diagnosis and Management of Fetal Growth Restriction

(2020) Juliana Gevaerd Martins et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3 ‐related skeletal dysplasias

(2020) Rhiannon Mellis et al.   PRENATAL DIAGNOSIS

Placental mosaicism in the era of chromosomal microarrays

(2019) Ida Vogel et al.   European Journal of Medical Genetics

Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA

(2019) Francesca Romana Grati et al.   GENETICS IN MEDICINE

Comparison of quantitative fluorescent polymerase chain reaction and karyotype analysis for prenatal screening of chromosomal aneuploidies in 270 amniotic fluid samples

(2019) Nooshin Masoudzadeh et al.   JOURNAL OF PERINATAL MEDICINE

Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype–phenotype relationships

(2019) Carlos Rodríguez-Martín et al.   JOURNAL OF HUMAN GENETICS

Prevalence of mosaicism in uncultured chorionic villus samples after chromosomal microarray and clinical outcome in pregnancies affected by confined placental mosaicism

(2019) Ida C. B. Lund et al.   PRENATAL DIAGNOSIS

Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions

(2018) Shen Gu et al.   PRENATAL DIAGNOSIS

In silico size selection is effective in reducing false positive NIPS cases of monosomy X that are due to maternal mosaic monosomy X

(2017) Jekaterina Shubina et al.   PRENATAL DIAGNOSIS

Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies

(2017) Francesca Romana Grati et al.   PRENATAL DIAGNOSIS

Confined placental mosaicism of double trisomies 9 and 21: discrepancy between non-invasive prenatal testing, chorionic villus sampling and postnatal confirmation

(2016) H.-H. Cheng et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The North American Fetal Therapy Network Consensus Statement

(2015) Stephen P. Emery et al.   OBSTETRICS AND GYNECOLOGY

Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis

(2015) Francesca Malvestiti et al.   PRENATAL DIAGNOSIS

Fetal imaging: Executive Summary of a Joint Eunice Kennedy Shriver National Institute of Child Health and Human Development, Society for Maternal-Fetal Medicine, American Institute of Ultrasound in Medicine, American College of Obstetricians and Gynecologists, American College of Radiology, Society for Pediatric Radiology, and Society of Radiologists in Ultrasound Fetal Imaging Workshop

(2014) Uma M. Reddy et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans

(2014) Tyl H. Taylor et al.   HUMAN REPRODUCTION UPDATE

Cytogenetic follow-up of chromosomal mosaicism detected in first-trimester prenatal diagnosis

(2014) Paola Battaglia et al.   PRENATAL DIAGNOSIS

Prenatal diagnosis of chromosomal mosaicism in over 1600 cases using array comparative genomic hybridization as a first line test

(2014) Louise Carey et al.   PRENATAL DIAGNOSIS

Interphase fluorescence in situ hybridization characterization of mosaicism using uncultured amniocytes and cultured stimulated cord blood lymphocytes in prenatally detected Pallister–Killian syndrome

(2014) Chih-Ping Chen et al.   Taiwanese Journal of Obstetrics & Gynecology

Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

(2014) Francesca Grati   Journal of Clinical Medicine

Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis

(2013) RK Dhillon et al.   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY

Placental abnormalities detected by ultrasonography in a case of confined placental mosaicism for trisomy 2 with severe fetal growth restriction

(2013) Takeshi Nagamatsu et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH

Chromosomal mosaicism in human preimplantation embryos: a systematic review

(2011) Jannie van Echten-Arends et al.   HUMAN REPRODUCTION UPDATE