Results 111 to 120 of about 9,097 (228)

Chromosomal Abnormalities Associated With Omphalocele

Taiwanese Journal of Obstetrics & Gynecology, 2007
Fetuses with omphalocele have an increased risk for chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with umbilical cord cysts, complexity of associated anomalies, and the contents of omphalocele ...
Chih-Ping Chen
doaj   +1 more source

New molecular tools for prenatal diagnosis [PDF]

, 2016
Prenatal diagnosis enables identification of severe disease in the fetus, and allows for planning and management of future pregnancies if an underlying genetic mechanism is identified.
Sahlin, Ellika
core   +1 more source

Low-level mosaic trisomy 14 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, positive non-invasive prenatal testing for trisomy 14, perinatal progressive decrease of the trisomy 14 cell line and a favorable fetal outcome

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present low-level mosaic trisomy 14 at amniocentesis. Case report: A 37-year-old, gravida 2, para 1, woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age.
Chih-Ping Chen, Fang-Tzu Wu, Shu-Yuan Chang, Peih-Shan Wu, Yen-Ting Pan, Meng-Shan Lee, Chien-Ling Chiu, Wayseen Wang   +7 more
doaj   +1 more source

Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial polydactyly, and facial dysmorphism

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: To present prenatal diagnosis of mosaic trisomy 2. Materials and Methods: A 29-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening, and the cytogenetic result was 47,XY,+2[8]/46,XY[22 ...
Chih-Ping Chen, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Yu-Ting Chen, Chen-Chi Lee, Li-Feng Chen, Wayseen Wang   +8 more
doaj   +1 more source

Rapid aneuploidy testing (knowing less) versus traditional karyotyping (knowing more) for advanced maternal age: What would be missed, who should decide? [PDF]

, 2008
Objectives The application of rapid aneuploidy testing as a stand-alone approach in prenatal diagnosis is much debated. The major criticism of this targeted approach is that it will not detect other chromosomal abnormalities that will be picked up by ...
Lao, TT, Lau, ET, Lau, TK, Lau, WL, Leung, WC, Ng, LKL, Tang, MHY, Tang, R, To, WK, Tse, KT, Wong, SF, Wong, SF   +11 more
core  

Antenatal Genetic Studies [PDF]

, 1980
The Antenatal Genetic Testing Program at MCV began in 1973. The standard scheme for antenatal genetic testing involves counseling, the methods of carrier detection available, ultrasound, amniocentesis, and laboratory evaluation.
Redwine, Fay
core   +1 more source

Internalizing Psychiatric Symptoms in People With Mosaicism for Trisomy 21

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
ABSTRACT People with mosaicism for trisomy 21 have been shown to exhibit many of the same phenotypic traits present in people with non‐mosaic Down syndrome, but with varying symptom severity. However, the behavioral phenotype of people with mosaic Down syndrome (mDS) has not been well characterized.
Ruth C. Brown, Allison D'Aguilar, Quinn Hurshman, Rebekah NailorZee, Timothy P. York, George Capone, Ananda B. Amstadter, Colleen Jackson‐Cook   +7 more
openaire   +2 more sources

Genetic Normalization of Differentiating Aneuploid Human Embryos [PDF]

, 2011
Early embryogenesis involves a series of dynamic processes, many of which are currently not well described or understood. Aneuploidy and aneuploid mosaicism, a mixture of aneuploid and euploid cells within one embryo, in early embryonic development are ...
Andrew Barker, Andrew Benner, Garry Cutting, Kevin Richter, Khanh-Ha Nguyen, Paul Brezina, Raymond Anchan, Ric Ross, William Kearns   +8 more
core   +1 more source

Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities

Menopause Review
Various soft markers can be detected in the ultrasonography of foetuses, which can be related to chromosomal abnormalities and increases the risk of abnormalities, or they can be considered as normal variations that can disappear due to the pregnancy ...
Behnaz Moradi, Ashkan Bahrami, Seyedeh Maryam Vafaei, Sanaz Sharifpour, Fatemeh Shariatinia, Ali Rezvanimehr, Ali Rashidi-Nezhad, Mobina Fathi, Shirin Yaghoobpoor, Hamed Ghorani   +9 more
doaj   +1 more source

Lessons from a phenotypically normal infant with uniparental isodisomy of chromosome 21: a Case Report and review

Frontiers in Genetics
Uniparental disomy (UPD) occurs when both homologous chromosomes are inherited from a single parent. To date, the UPD of all autosomes and the X chromosome has been recorded. A few cases of UPD of chromosome 21 have been documented.
Yuying Zhu, Ke Wu, Cuicui Jiang, Qiumin Zhu   +3 more
doaj   +1 more source