Results 61 to 70 of about 2,435,290 (202)

Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe.

, 2001
Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate
Stoll, C., Garne, E., Clementi, M.
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Prenatal diagnosis of jumping translocation involving chromosome 22 with ultrasonographic findings

, 2005
We report on the prenatal diagnosis and ultrasonographic findings of a second-trimester fetus with jumping translocation involving chromosome 22. A 28-year-old gravida 2, partus 1, Turkish woman was referred for genetic counselling and ultrasonographic ...
Yıldırım, Gökhan, Karaman, Birsen, Ceylan, Yavuz, Aslan, Halil   +3 more
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Classification of Fetal Congenital Heart Disease by Prenatal Ultrasound and Its Diagnostic Value

International Journal of General Medicine
Chuansheng Feng, Mohan Wang, Yizhen Ji, Yasong Xu, Shiyu Sun, Li Sun, Qichang Wu Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, Women and Children’s Hospital, School of Medicine, Xiamen University, Xiamen, Fujian, 361000, People’s ...
Feng C, Wang M, Ji Y, Xu Y, Sun S, Sun L, Wu Q   +6 more
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Pregnant women's informational needs prior to decisions about prenatal diagnosis for chromosomal anomalies : A Q methodological study

Objective To study pregnant women's subjective viewpoints on what is important when receiving information prior to decision-making regarding prenatal testing for chromosomal anomalies. Method Data were collected using Q methodology.
Ternby, Ellen, Ingvoldstad Malmgren, Charlotta, Malmgren, CI, Axelsson, Ove, Georgsson, S, Axelsson, Ove,, Georgsson, Susanne,, Axelsson, O, Ternby, Ellen,, Ternby, E, Georgsson, Susanne, Ingvoldstad Malmgren, Charlotta,   +11 more
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Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family

Hereditas
Background Oculocutaneous albinism (OCA) is a group of rare genetic disorders characterized by a reduced or complete lack of melanin in the skin, hair, and eyes. Patients present with colorless retina, pale pink iris, and pupil, and fear of light.
Yanan Wang, Yujie Chang, Mingya Gao, Weiwei Zang, Xiaofei Liu   +4 more
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Prenatal Prediction of Spinal Muscular Atrophy in Chinese

, 2012
[[abstract]]We used linkage analysis, non-isotope SSCP (single-strand conformation polymorphism) and PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) for prenatal diagnosis of spinal muscular atrophy (SMA).
Lin, Shuan-Pei; Chang, Jan-Gowth; Jong, Yuh-Jyh; Yang, Tzu-Yao; Tsai, Chang-Hai; Wang, Nancy M. ; Li, Hung ; Hsieh-Li, Hsieh-Mei; Hu, Cheur-Jong
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False non-paternity in a family for prenatal diagnosis of β-thalassaemia

, 1993
Initial screening for the common β-thalassaemia mutations with allele-specific oligonucleotide probe in an at-risk family suggested non-paternity. Subsequent DNA fingerprinting of the members proved otherwise.
Todd, D, Chan, TPT, Chan, TK, Chan, V, Lau, K   +4 more
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Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China

The Application of Clinical Genetics
Lulu Meng,1,* Yan Wang,1,* Junqiang Zhang,2,* Ran Zhou,1 Xingxing Wang,3 Fengchang Qiao,1 Qinxin Zhang,1 Cheng Wan,3 Shujing Jiao,3 Ping Hu,1 Zhengfeng Xu11Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical ...
Meng L, Wang Y, Zhang J, Zhou R, Wang X, Qiao F, Zhang Q, Wan C, Jiao S, Hu P, Xu Z   +10 more
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Identification of important genes related to ferroptosis in early missed abortion based on WGCNA

Scientific Reports
Early missed abortion is defined as a pregnancy of ≤ 12 weeks in which there is a cessation of life in the developing embryo or fetus, leading to its retention within the uterine cavity without being spontaneously expelled promptly.
Yulu Zeng, Jiayi Gan, Jinlian Cheng, Changqiang Wei, Xiangyun Zhu, Shisi Wei, Lihong Pang   +6 more
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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
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