A prenatal screening program for antibody to the human immunodeficiency virus (HIV) was examined prospectively in a cross-sectional population. Routine screening was performed on 3,241 women during the first trimester. Serum samples yielding repeatedly positive results on an enzyme-linked immunosorbent assay (ELISA) (n = 6) were subjected to confirmatory Western blot testing. All the specimens were determined to be false positive with atypical banding regions not consistent with HIV-1 infection. This false-positive rate was higher than in previous reports of screening programs in low-risk populations (P less than .005). Since antibody to HIV may not be detectable for several months after infection, we serially tested 984 of the women in different trimesters of pregnancy to determine whether repeat testing would yield seroconversion undetected at the first screening. No patient who initially tested negative on the ELISA tested positive later in gestation. We therefore recommend that routine screening be performed only once during pregnancy, preferably in the first or early second trimester, in the general population.
Download full-text PDF |
Source |
---|
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFPrenat Diagn
January 2025
Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Prenatal cell-free DNA (cfDNA) screening has advanced significantly, extending beyond detecting aneuploidies to sub-chromosomal copy number variations. However, its application for screening dominant single-gene conditions, often caused by de novo variants, remains underutilized in the general obstetric population. This study reviews recent data and experience on prenatal cfDNA screening for dominant monogenic conditions using multiple-gene panels, highlighting its potential to enhance early detection and management of genetic disorders.
View Article and Find Full Text PDFCell Commun Signal
January 2025
Department of Obstetrics and Gynecology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1277 Jiefang Avenue, Wuhan, 430022, China.
Efferocytosis is a mechanism by which phagocytes efficiently clear apoptotic cells, averting their secondary necrosis and the subsequent release of potentially immunogenic or cytotoxic substances that can trigger strong immune and inflammatory responses. During efferocytosis, the metabolic pathways of phagocytes are transformed, which, along with the catabolism of apoptotic cargo, can affect their function and inflammatory state. Extensive apoptosis occurs during placental development, and some studies reported the immunomodulatory effects of efferocytosis at the maternal-fetal interface.
View Article and Find Full Text PDFJ Matern Fetal Neonatal Med
December 2025
Fetal Medicine Unit, St George's Hospital, London, UK.
Objective: To evaluate whether, in late pregnancy, the cerebral Doppler can identify very small fetuses that are less likely to experience intrapartum compromise (IC).
Material And Methods: This was a retrospective study of 282 singleton pregnancies that underwent an ultrasound scan at 32 + 0- 40 + 6 weeks and were delivered after induction, or spontaneous onset of labor. Very small fetuses were defined as fetuses with estimated weight less than the 3rd centile.
J Matern Fetal Neonatal Med
December 2025
Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Objective: Fetal cerebellar abnormalities are associated with neurodevelopmental disorders and structural brain malformations. Accurate and early diagnosis is crucial for prenatal counseling and planning postnatal interventions. While prenatal ultrasound is a key tool for detecting fetal brain abnormalities, variations in diagnostic accuracy across studies necessitate a systematic evaluation of its effectiveness in diagnosing cerebellar abnormalities.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!