Cell-free DNA screening and sex chromosome aneuploidies

Pregnancy: Prepare for unexpected prenatal test results

(2015) Diana W. Bianchi   NATURE

Fetal Sex Chromosome Testing by Maternal Plasma DNA Sequencing

(2015) Diana W. Bianchi et al.   OBSTETRICS AND GYNECOLOGY

Assessment of Fetal Sex Chromosome Aneuploidy Using Directed Cell-Free DNA Analysis

(2014) Kypros H. Nicolaides et al.   FETAL DIAGNOSIS AND THERAPY

Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases

(2014) Jia-Chi Wang et al.   GENETICS IN MEDICINE

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases

(2014) N. Gruchy et al.   PRENATAL DIAGNOSIS

Endocrinological issues and hormonal manipulation in children and men with Klinefelter syndrome

(2013) Matthew S. Wosnitzer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

A Multicenter, Open-Label, Observational Study of Testosterone Gel (1%) in the Treatment of Adolescent Boys With Klinefelter Syndrome or Anorchia

(2013) Alan D. Rogol et al.   JOURNAL OF ADOLESCENT HEALTH

Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease

(2013) C. Michael Osborne et al.   PRENATAL DIAGNOSIS

Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma

(2013) Amin R. Mazloom et al.   PRENATAL DIAGNOSIS

The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies

(2013) Jacob A. Canick et al.   PRENATAL DIAGNOSIS

Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18

(2012) Mary E. Norton et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18

(2012) Andrew B. Sparks et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Chromosome-selective sequencing of maternal plasma cell–free DNA for first-trimester detection of trisomy 21 and trisomy 18

(2012) Ghalia Ashoor et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

(2012) Glenn E. Palomaki et al.   GENETICS IN MEDICINE

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

(2012) Diana W. Bianchi et al.   OBSTETRICS AND GYNECOLOGY

Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter Syndrome

(2012) Judith L. Ross et al.   PEDIATRICS

Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X

(2012) Hong Yao et al.   PRENATAL DIAGNOSIS

Prenatal management of disorders of Sex development

(2012) Lyn S. Chitty et al.   Journal of Pediatric Urology

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

(2011) Glenn E. Palomaki et al.   GENETICS IN MEDICINE

Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome

(2011) N. Gruchy et al.   HUMAN REPRODUCTION

Noninvasive Fetal Sex Determination Using Cell-Free Fetal DNA

(2011) Stephanie A. Devaney et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Growth Hormone plus Childhood Low-Dose Estrogen in Turner's Syndrome

(2011) Judith L. Ross et al.   NEW ENGLAND JOURNAL OF MEDICINE

Strategies and advantages of early diagnosis in Klinefelter's syndrome

(2010) A. F. Radicioni et al.   MOLECULAR HUMAN REPRODUCTION

Bone mineral density in Klinefelter syndrome is reduced and primarily determined by muscle strength and resorptive markers, but not directly by testosterone

(2010) A. Bojesen et al.   OSTEOPOROSIS INTERNATIONAL

Parental decisions regarding prenatally detected fetal sex chromosomal abnormality and the impact of genetic counselling: An analysis of 57 cases in Taiwan

(2008) Sheng-Wen SHAW et al.   AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY