RT3(3,3',5'-triiodothyronine) levels in amniotic fluid and T4(thyroxine), T3(triiodothyronine), rT3 and TSH(thyroid-stimulating hormone) levels in maternal and cord serum were determined simultaneously by RIA. We also determined the activities of the monodeiodination of thyroxine to rT3 in placentas. Amniotic fluid rT3 and cord serum rT3 levels decreased, but T4, T3 and TSH levels increased with advancing gestational age. The activities of the monodeiodination in placentas decreased rapidly from midgestation, preterm to term. In maternal hyperthyroidism, amniotic fluid rT3 levels were markedly elevated. Moreover, there were significant positive correlations between amniotic fluid rT3 and maternal serum rT3 (r = 0.756, p less than 0.001, n = 26) and T4(r = 0.509, p less than 0.01, n = 26) in the normal 3rd trimester. We found significant correlations between amniotic fluid rT3 and fetal thyroid function as well as the activity of the monodeiodination in placenta after 17 weeks' gestation. But we couldn't find any such correlations in the 3rd trimester. These data suggest that the amniotic fluid rT3 in the 3rd trimester was affected by maternal thyroid function as well as fetal thyroid function and the activity of the monodeiodination in placenta.
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Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Obstetrics and Gynecology, the Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China.
Objective: To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.
Methods: A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Prenatal Diagnosis Center, Xuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, Jiangsu 221009, China.
Objective: To explore the genotype-phenotype correlation in a Charcot-Marie-Tooth type 2A2A (CMT2A2A) pedigree and to provide genetic counseling for its subsequent pregnancies.
Methods: A Chinese pedigree presenting with "lower limb muscle atrophy and movement disorders" at the Prenatal Diagnosis Center of Xuzhou Central Hospital between January and August 2024 was selected as the study subject. Relevant clinical data were collected from the pedigree members.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Reproductive Medicine Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230022, China.
Objective: To assess the feasibility of first polar body transfer (PB1T) combined with preimplantation mitochondrial genetic testing for blocking the transmission of a pathogenic mitochondrial DNA 8993T>G mutation.
Methods: A Chinese family affected with Leigh syndrome which had attended the Reproductive Medicine Centre of the First Affiliated Hospital of Anhui Medical University in September 2021 was selected as the study subject. Controlled ovarian hyperstimulation was carried out for the proband after completing the detection of the mitochondrial DNA 8993T>G mutation load among the pedigree members.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Center of Prenatal Diagnosis, Lianyungang Maternal and Child Health Care Hospital, Lianyungang, Jiangsu 222000, China.
Objective: To explore the clinical significance of trisomy 7 signaled by non-invasive prenatal testing (NIPT).
Methods: Pregnant women with high risk for trisomy 7 by NIPT from January 2017 to December 2023 were selected as the study subjects, and the results of prenatal diagnosis and follow-up were analyzed. Literature related to pregnant women with a high risk for trisomy 7 by NIPT from January 2016 to July 2024 was retrieved from China Biomedical Literature Database, Wanfang Database, China National Knowledge Infrastructure and PubMed database.
J Proteomics
January 2025
Necker Proteomics, Université Paris Cité - Structure Fédérative de Recherche Necker, INSERM US24/CNRS UAR3633, Paris, France.
Despite numerous studies on fetal therapy for myelomeningoceles (MMC), the pathophysiology of this malformation remains poorly understood. This study aimed to analyze the biochemical profile and proteome of amniotic fluid (AF) supernatants from MMC fetuses to explore the prenatal pathophysiology. Biochemical analysis of 61 AF samples from MMC fetuses was compared with 45 healthy fetuses' samples.
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