Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
CH Gravholt, NH Andersen, GS Conway… - European journal of …, 2017 - academic.oup.com
Abstract Turner syndrome affects 25–50 per 100,000 females and can involve multiple
organs through all stages of life, necessitating multidisciplinary approach to care. Previous …
organs through all stages of life, necessitating multidisciplinary approach to care. Previous …
Analysis of cell‐free DNA in maternal blood in screening for aneuploidies: updated meta‐analysis
MM Gil, V Accurti, B Santacruz… - … in Obstetrics & …, 2017 - Wiley Online Library
Objectives To review clinical validation or implementation studies of maternal blood cell‐free
(cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 …
(cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 …
ISUOG Practice Guidelines: role of ultrasound in twin pregnancy
ISUOG Practice Guidelines: role of ultrasound in twin pregnancy ISUOG Practice Guidelines:
role of ultrasound in twin pregnancy Ultrasound Obstet Gynecol. 2016 Feb;47(2):247-63. doi …
role of ultrasound in twin pregnancy Ultrasound Obstet Gynecol. 2016 Feb;47(2):247-63. doi …
Cell-free DNA analysis for noninvasive examination of trisomy
ME Norton, B Jacobsson, GK Swamy… - … England Journal of …, 2015 - Mass Medical Soc
Background Cell-free DNA (cfDNA) testing for fetal trisomy is highly effective among high-
risk women. However, there have been few direct, well-powered studies comparing cfDNA …
risk women. However, there have been few direct, well-powered studies comparing cfDNA …
Cardiovascular complications of down syndrome: sco** review and expert consensus
K Dimopoulos, A Constantine, P Clift, R Condliffe… - Circulation, 2023 - Am Heart Assoc
Cardiovascular disease is a leading cause of morbidity and mortality in individuals with
Down syndrome. Congenital heart disease is the most common cardiovascular condition in …
Down syndrome. Congenital heart disease is the most common cardiovascular condition in …
Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis
S Taylor-Phillips, K Freeman, J Geppert, A Agbebiyi… - BMJ open, 2016 - bmjopen.bmj.com
Objective To measure test accuracy of non-invasive prenatal testing (NIPT) for Down,
Edwards and Patau syndromes using cell-free fetal DNA and identify factors affecting …
Edwards and Patau syndromes using cell-free fetal DNA and identify factors affecting …
Noninvasive prenatal testing and incidental detection of occult maternal malignancies
DW Bianchi, D Chudova, AJ Sehnert, S Bhatt, K Murray… - Jama, 2015 - jamanetwork.com
Importance Understanding the relationship between aneuploidy detection on noninvasive
prenatal testing (NIPT) and occult maternal malignancies may explain results that are …
prenatal testing (NIPT) and occult maternal malignancies may explain results that are …
[HTML][HTML] Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
D Liang, DS Cram, HU Tan, S Linpeng, Y Liu, H Sun… - Genetics in …, 2019 - Elsevier
Purpose To assess the clinical performance of an expanded noninvasive prenatal screening
(NIPS) test (“NIPS-Plus”) for detection of both aneuploidy and genome-wide microdeletion …
(NIPS) test (“NIPS-Plus”) for detection of both aneuploidy and genome-wide microdeletion …
Prenatal diagnosis: screening and diagnostic tools
LM Carlson, NL Vora - Obstetrics and gynecology clinics of …, 2017 - pmc.ncbi.nlm.nih.gov
Approximately 3% to 5% of pregnancies are complicated by birth defects or genetic
disorders. 1 Chromosomal abnormalities are present in approximately 1 in 150 live births, 2 …
disorders. 1 Chromosomal abnormalities are present in approximately 1 in 150 live births, 2 …