Results 81 to 90 of about 373,102 (316)

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Costs and Benefits of Prenatal Screening For Cystic Fibrosis [PDF]

Newly-developed genetic tests based on restriction fragment length polymorphisms (RFLPs) promise to facilitate the early detection of genetic diseases. Several such tests are now available for the prenatal detection of cystic fibrosis (CF), a common and ...
Alan M. Garber, Joseph P. Fenerty
core  

Midwives and information on prenatal testing with focus on Down syndrome [PDF]

, 2015
OBJECTIVE: To investigate midwives' knowledge of prenatal diagnosis especially Down syndrome, information given by midwives to parents, expectant parents' requests for information and how midwives perceive their own competence to give information.METHOD:
Ove Axelsson, Anneren, G, Charlotta Ingvoldstad, Ingvoldstad, Charlotta,, Ingvoldstad, C, Axelsson, Ove,, Ellen Ternby, Axelsson, O, Annerén, Göran,, Ternby, Ellen,, Ternby, E, Göran Annerén   +11 more
core   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

P622: NIPS dilemma in the context of consanguinity: Considerations for counseling

Genetics in Medicine Open, 2023
Noura Osman, Kathryn Rice, Herman Hedriana, Krishna Singh   +3 more
doaj   +1 more source

Copy number variations associated with fetal congenital kidney malformations

Molecular Cytogenetics, 2020
Background Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe.
Meiying Cai, Na Lin, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Ying Li, Xuemei Chen, Yuan Lin, Hailong Huang, Liangpu Xu   +9 more
doaj   +1 more source

The Prenatal Visit [PDF]

Pediatrics, 2009
As advocates for children and their families, pediatricians can support and guide expectant parents in the prenatal period. Prenatal visits allow the pediatrician to gather basic information from expectant parents, offer them information and advice, and identify high-risk conditions that may require special care.
openaire   +2 more sources

A comparison of attitudes towards prenatal diagnosis and pre-implantation genetic diagnosis [PDF]

, 2010
Technological advances in prenatal screening and diagnosis mean that it is now possible to test for a wide range of congenital conditions (Hewison et al., 2007).
Miller, Chloe Louise
core  

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Pioneering point-of-care obstetric ultrasound integration in midwifery education – the MEPOCUS study

BMC Medical Education
Background Ultrasound technology is indispensable in perinatal care due to its non-invasive and painless nature, offering vital insights into foetal development and childbirth.
Julia Groos, Adeline Walter, Ruben Plöger, Brigitte Strizek, Ulrich Gembruch, Agnes Wittek, Florian Recker   +6 more
doaj   +1 more source