Results 31 to 40 of about 25,999 (245)

Prenatal Diagnosis of Otocephaly by Three-dimensional Ultrasonography

Taiwanese Journal of Obstetrics and Gynecology, 2004
SummaryObjectiveOtocephaly is a rare congenital malformation complex. The purpose of this paper is to report our experience of prenatal diagnosis using three-dimensional ultrasonography.Case ReportA 30-year-old primigravida was referred at 29 weeks of gestation for polyhydramnios and regular uterine contractions.
Chih-Ping Chen, Chin-Yuan Hsu, Fang-Yu Hung, Kuo-Gon Wang   +3 more
openaire   +3 more sources

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

Genetic testing in Marfan syndrome [PDF]

, 2016
Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring.
Aragon-Martin, JA, Child, AH, Sage, K
core   +1 more source

Prenatal diagnosis of fetal abdominal lymphangioma by ultrasonography [PDF]

Ultrasound in Obstetrics & Gynecology, 2001
AbstractWe present a case of abdominal lymphangioma in a fetus together with a review of the literature. Diagnosis was made at 20 weeks' gestation by antenatal ultrasonography. In keeping with other reports, the lesion was located on the left and serial ultrasonography demonstrated rapid growth with extension into the lower extremity.
Deshpande P., O'Neill D., Twining P.
openaire   +3 more sources

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family. [PDF]

, 2012
Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a ...
Atlihan, F, Hazan, F, Jeffery, S, Kantekin, E, Ostergaard, P, Ozkinay, F, Ozturk, T   +6 more
core   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Medical Genetic Counseling Of Women With Congenital Heart Diseases Of Fetus [PDF]

, 2019
Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods.
Helner, N. (Nadiya), Makukh, H. (Halyna), Prokopchuk, N. (Natalia), Sharhorodska, Y. (Yevheniya)   +3 more
core   +3 more sources

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf, Stina Lou, Anne Skakkebæk   +2 more
wiley   +1 more source

Assessment of fetal behavior using four-dimensional ultrasonography: current knowledge and perspectives [PDF]

, 2013
In the last decades, the development of real-time ultrasonography has allowed the direct view of the fetus in the uterus, as well as assessing its activity.
Araujo Júnior, Edward, Guimarães Filho, Hélio Antonio, Mello Júnior, Carlos Fernando de, Moron, Antonio Fernandes, Nardozza, Luciano Marcondes Machado   +4 more
core   +2 more sources