Among 113 prenatal diagnoses in pregnancies at advanced maternal age (mothers older than 37 years) 7 aberrant fetal karyotypes were found (6.2%). Detailed reports of one case of trisomy 21, 18 and 13 each, as well as of XXY-, XYY- and XXX gonosomal constitution respectively are presented in the following. The frequency and severity of chromosome aberrations occurring in fetuses from elder women are discussed with respect to data from the literature. It seems that this group bears a higher risk for chromosomally abnormal offspring than has been suggested before.
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Expert Opin Drug Deliv
January 2025
Division of Basic Science and Translational Research, Department of Obstetrics and Gynecology, The University of Texas Medical Branch at Galveston, Galveston, TX, USA.
BMC Public Health
January 2025
Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.
Background: In a world confronted with new and connected challenges, novel strategies are needed to help children and adults achieve their full potential, to predict, prevent and treat disease, and to achieve equity in services and outcomes. Australia's Generation Victoria (GenV) cohorts are designed for multi-pronged discovery (what could improve outcomes?) and intervention research (what actually works, how much and for whom?). Here, we describe the key features of its protocol.
View Article and Find Full Text PDFJ Glob Health
January 2025
Department of Obstetrics, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China.
Background: Maternal obstetric characteristics have a key role in determining the occurrence of pregnancy-related disorders and subsequent neonatal outcomes. We aimed to investigate the mediating impact of gestational diabetes mellitus (GDM) and hypertensive disorder of pregnancy (HDP) on the relationship between maternal advanced age, previous caesarean section, and the risk of either large for gestational age (LGA) or small for gestational age (SGA) infants.
Methods: We used data from a prospective multicentre cohort study conducted through China's National Maternal Near-miss Surveillance System from January 2012 to December 2021.
Clin Chem
January 2025
Division of Maternal-Fetal-Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.
Background: Genetic screening has advanced from prenatal cell-free DNA (cfDNA) screening for aneuploidies (cfDNA-ANP) to single-gene disorders (cfDNA-SGD). Clinical validation studies have been promising in pregnancies with anomalies but are limited in the general population.
Methods: Chart review and laboratory data identified pregnancies with cfDNA-SGD screening for 25 autosomal dominant conditions at our academic center.
Clin Chem
January 2025
Prenatal Genomics and Therapy Section, Center for Precision Health Research, National Human Genome Institute, National Institutes of Health, Bethesda, MD, United States.
Background: Prenatal cell-free DNA (cfDNA) screening is a success story of clinical genomics that has translated to and transformed obstetric care. It is a highly sensitive and specific method of screening for the most common fetal aneuploidies, including trisomies 13, 18, and 21. While primarily designed to detect fetal chromosomal abnormalities, the test also analyzes maternal cfDNA, which can complicate interpretation of results.
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