Results 71 to 80 of about 5,473 (268)

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies [PDF]

, 2015
Objectives To report clinical implementation of cell‐free DNA (cfDNA) analysis of maternal blood in screening for trisomies 21, 18 and 13 in twin pregnancies and examine variables that could influence the failure rate of the test.
BEVILACQUA, ELISA, E. Ordoñez, H. Dierickx, JC Jani, KH Nicolaides, MM Gil, PJ Willems, V. Cirigliano   +7 more
core   +1 more source

Sex Ratios at Birth Following Non‐Invasive Prenatal Testing in Victoria, Australia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Non‐invasive prenatal testing (NIPT) can determine fetal chromosomal sex early in pregnancy, raising the possibility of sex selection. However, current evidence regarding this practice is limited. Our objective was to assess the sex ratio at birth (SRB) among a cohort of infants born following NIPT from a single laboratory provider ...
Hilary Bowman‐Smart, Christopher Gyngell, Lisa Hui, Cara Mand, Mark D. Pertile, Julian Savulescu, Martin B. Delatycki   +6 more
wiley   +1 more source

Successful application of the strategy of blastocyst biopsy, vitrification, whole genome amplification, and thawed embryo transfer for preimplantation genetic diagnosis of neurofibromatosis type 1

Taiwanese Journal of Obstetrics & Gynecology, 2011
Objective: Preimplantation genetic diagnosis (PGD) offers an alternative for women to carry an unaffected fetus risk of hereditary diseases. Trophectoderm biopsy may provide more cells for accurate diagnosis.
Yi-Lin Chen, Chia-Cheng Hung, Shin-Yu Lin, Mei-Ya Fang, Yi-Yi Tsai, Li-Jung Chang, Chien-Nan Lee, Yi-Ning Su, Shee-Uan Chen, Yu-Shih Yang   +9 more
doaj   +1 more source

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. [PDF]

, 2018
Purpose Unexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and
A David, A Forlino, Alison Male, BH Griffin, C Lewis, Catherine DeVile, CF Wright, Dagmar Tapon, E Calzolari, E Quinlan-Jones, EJ Kalynchuk, Emma Kivuva, F Fiorentino, FL Mackie, Francesca Faravelli, Jane Hayward, JR Botkin, JS Beckmann, L Chitty, LE Westerfield, LS Chitty, Lyn S Chitty, M Westgren, MJ Landrum, Natalie Chandler, PD Stenson, R Wapner, RC Green, RC Green, S Drury, S Richards, Sahar Mansour, SS Nayak, Sunayna Best, Sunayna Best   +34 more
core   +2 more sources

Multiple pregnancy with complete hydatidiform mole and coexisting normal fetus: systematic review and meta‐analysis of clinical outcomes from non‐randomized studies

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective Complete hydatidiform mole and coexisting normal fetus (CHMCF) is a rare condition for which there is significant heterogeneity in diagnosis, counseling and management of complications. The objective of this study was to summarize the prevalence of clinical outcomes in reported cases of CHMCF.
N. Salmeri, A. Pizzetti, E. Grassi, R. Cioffi, G. Mangili, M. Seckl, A. Sotiriadis, M. Candiani, P. I. Cavoretto   +8 more
wiley   +1 more source

Prenatal Diagnosis of Sandhoff Disease by Enzyme Analysis of Chorionic Villus Sample

Gynecology Obstetrics & Reproductive Medicine, 2008
OBJECTIVE AND STUDY DESIGN: The prenatal diagnosis of Sandhoff disease (SD) was performed in 14 fetuses of families by the analysis of chorionic villus sample obtained at 11-14 weeks of gestation. The diagnosis was based on the absence or near-absence of
Asuman Özkara, Ebru Dikensoy, Tülay Özlü, Meral Topçu, Nur Çakar, Mehmet Sinan Beksaç   +5 more
doaj  

DETERMINATION OF FETAL RHESUS D STATUS BY MATERNAL PLASMA DNA ANALYSIS

Balkan Journal of Medical Genetics, 2013
In this study, we assessed the feasibility of fetal RhD genotyping by analysis of cell-free fetal DNA(cffDNA) extracted from plasma samples of Rhesus (Rh) D-negative pregnant women by using real-time polymerase chain reaction (PCR).
Aykut A., Onay H., Gunduz C., Ozkinay F., Cogulu O., Sagol S.   +5 more
doaj   +1 more source

Sex differences in the late first trimester human placenta transcriptome

Biology of Sex Differences, 2018
Background Development of the placenta during the late first trimester is critical to ensure normal growth and development of the fetus. Developmental differences in this window such as sex-specific variation are implicated in later placental disease ...
Tania L. Gonzalez, Tianyanxin Sun, Alexander F. Koeppel, Bora Lee, Erica T. Wang, Charles R. Farber, Stephen S. Rich, Lauren W. Sundheimer, Rae A. Buttle, Yii-Der Ida Chen, Jerome I. Rotter, Stephen D. Turner, John Williams, Mark O. Goodarzi, Margareta D. Pisarska   +14 more
doaj   +1 more source

A stochastic model for early placental development [PDF]

, 2013
In the human, placental structure is closely related to placental function and consequent pregnancy outcome. Studies have noted abnormal placental shape in small-for-gestational age infants which extends to increased lifetime risk of cardiovascular ...
Collins, S.L, Cotter, S. L., Heazell, A. E. P., Kimpton, L.S., Klika, V.   +4 more
core   +1 more source