In pregnancy, D- pregnant women may be at risk of becoming immunized against D when carrying a D+ fetus, which may eventually lead to hemolytic disease of the fetus and newborn. Administrating antenatal and postnatal anti-D immunoglobulin prophylaxis decreases the risk of immunization substantially. Noninvasive fetal genotyping, based on testing cell-free DNA extracted from maternal plasma, offers a reliable tool to predict the fetal RhD phenotype during pregnancy. Used as a screening program, antenatal screening can guide the administration of antenatal prophylaxis in non-immunized D- pregnant women so that unnecessary prophylaxis is avoided in those women who carry a D- fetus. In Europe, antenatal screening programs have been running since 2009, demonstrating high test accuracies and program feasibility. In this review, an overview is provided of current state-of-the-art antenatal screening, which includes discussions on the rationale for its implementation, methodology, detection strategies, and test performance. The performance of antenatal screening in a routine setting is characterized by high accuracy, with a high diagnostic sensitivity of ≥99.9 percent. The result of using antenatal screening is that 97-99 percent of the women who carry a D- fetus avoid unnecessary prophylaxis. As such, this activity contributes to avoiding unnecessary treatment and saves valuable anti-D immunoglobulin, which has a shortage worldwide. The main challenges for a reliable noninvasive fetal genotyping assay are low cell-free DNA levels, the genetics of the Rh blood group system, and choosing an appropriate detection strategy for an admixed population. In many parts of the world, however, the main challenge is to improve the basic care for D- pregnant women.
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http://dx.doi.org/10.2478/immunohematology-2024-004 | DOI Listing |
J Int AIDS Soc
February 2025
Centre for Integrated Data and Epidemiological Research, School of Public Health, University of Cape Town, Cape Town, South Africa.
Introduction: Sexually transmitted infections (STIs) in pregnancy are associated with an increased risk of vertical HIV transmission and adverse pregnancy and birth outcomes. In South Africa, syndromic management is the standard of care for STI management. We assessed the potential impact of point-of-care (POC) screening for curable STIs (Chlamydia trachomatis [CT], Trichomonas vaginalis [TV] and Neisseria gonorrhoeae [NG]) during pregnancy on vertical HIV transmission and adverse pregnancy and birth outcomes.
View Article and Find Full Text PDFAm 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 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.
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