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

The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome)

(2017) Carole Samango-Sprouse et al.   PRENATAL DIAGNOSIS

Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous?

(2017) Rosemary E. Reiss et al.   PRENATAL DIAGNOSIS

Frequency of fetal karyotype abnormalities in women undergoing invasive testing in the absence of ultrasound and other high-risk indications

(2016) Jose Carlos P. Ferreira et al.   PRENATAL DIAGNOSIS

Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY

(2015) Carole Samango-Sprouse et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism–based noninvasive prenatal test

(2015) Kirsten J. Curnow et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Double-strand break repair on sex chromosomes: challenges during male meiotic prophase

(2015) Lin-Yu Lu et al.   CELL CYCLE

The type of feto-placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure

(2015) Francesca Romana Grati et al.   PRENATAL DIAGNOSIS

Cell-free DNA screening and sex chromosome aneuploidies

(2015) Michael T. Mennuti et al.   PRENATAL DIAGNOSIS

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

Clinical experience and follow-up with large scale single-nucleotide polymorphism–based noninvasive prenatal aneuploidy testing

(2014) Pe'er Dar et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results

(2014) Francesca R. Grati et al.   GENETICS IN MEDICINE

Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins

(2014) Sebastian Grömminger et al.   Journal of Clinical Medicine

Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age

(2013) Carole A. Samango-Sprouse et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing

(2013) Y. Wang et al.   CLINICAL CHEMISTRY

The tricky path to recombining X and Y chromosomes in meiosis

(2012) Liisa Kauppi et al.   Annals of the New York Academy of Sciences

Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells

(2012) Brigitte HW Faas et al.   EXPERT OPINION ON BIOLOGICAL THERAPY