Triploidy 69, XXY was described in a liveborn foetus weighing 760 g. Diagnosis was based on postmortal cytogenetical analysis.
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The clinical performance of fetal sex chromosome abnormalities in serum biochemical screening in the second trimester.
Sci Rep
November 2024
Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
This study aimed to investigate the serum biochemical markers' propensity associated with sex chromosome abnormalities (SCAs) and assess the clinical efficacy of SCAs in serum biochemical screening during the second trimester. A retrospective case-control analysis was conducted on pregnant women who underwent serum biochemical screening during the second trimester. The study compared groups of women with SCAs to those with normal chromosome karyotypes to assess changes in biochemical markers.
View Article and Find Full Text PDFA retrospective analysis of 1600 infertility patients with azoospermia and severe oligozoospermia.
Clin Chim Acta
January 2025
NHC Key Laboratory of Male Reproduction and Genetics, Guangdong Provincial Reproductive Science Institute (Guangdong Provincial Fertility Hospital), Guangzhou 510060, China; School of Medicine, Jinan University, Guangzhou 510632, China. Electronic address:
Objective: This study aimed to investigate the genetic etiology of male infertility patients.
Method: A total of 1600 male patients with infertility, including 1300 cases of azoospermia and 300 cases of severe oligozoospermia, underwent routine semen analysis, chromosomal karyotype analysis and sex hormone level testing. The Azoospermia factor (AZF) on the Y chromosome was detected using the multiple fluorescence quantitative PCR technique.
Gestational Trophoblastic Disease: Complete versus Partial Hydatidiform Moles.
Diseases
July 2024
The Arkadi M. Rywlin M.D. Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center, Miami Beach, FL 33140, USA.
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View Article and Find Full Text PDFPerformance of noninvasive prenatal screening for fetal sex chromosome aneuploidies in a cohort of 116,862 pregnancies.
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May 2024
Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Background: Noninvasive prenatal screening (NIPS) has shown good performance in screening common aneuploidies. However, its performance in detecting fetal sex chromosome aneuploidies (SCAs) needs to be evaluated in a large cohort.
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[Prenatal diagnosis and outcome of pregnancy for women with high risks by screening of fetal free DNA from peripheral blood samples].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2024
Center for Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School Nanjing University, Nanjing, Jiangsu 210008, China.
Objective: To analyze the results of prenatal diagnosis and outcome of pregnancy for women with a high risk for fetal aneuploidies.
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