Objective: To evaluate the impact of genetic counseling (GC) during the third trimester by analyzing changes in pregnancy management and the correlation with postnatal findings.
Methods: This was a retrospective study. Pregnancy course and neonatal follow-up were analyzed according to the reason for referral and implementation of recommendations.
Results: The records of neonates born to 181 women were retrieved. Fifty-two women (group 1-29%) qualified for pregnancy termination under Israeli guidelines and laws, and 129 (group 2-71%) were not at the time they were referred. By another division: 104 women (group 3-57%) followed the physician's diagnostic recommendations completely after counseling including amniocentesis, fetal MRI, targeted ultrasound scans, fetal echocardiography. Seventy-seven declined amniocentesis (group 4-43%). Additional abnormalities were detected postpartum in all groups without statistically difference: 3/52 (10%) in group 1, 9/129 (7%) in group 2, 6/104 (6%) in group 3, and 6/77 (8%) in group 4).
Conclusion: GC in the third trimester of pregnancy provided the couple with a sharper more focused picture and assisted them to perceive the significance of new, significant fetal findings which attest to the value of the GC.
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http://dx.doi.org/10.1007/s00404-017-4638-8 | DOI Listing |
Heart
January 2025
National Referral Center for Inherited Cardiac Diseases, Cardiology and Genetics Departments, Hôpital de la Pitié-Salpêtrière, Paris, France.
Advances in molecular genetics during the past decades led to seminal discoveries in the genetic basis of cardiovascular diseases, resulting in a new understanding of their pathogenesis, determinants of natural history and more recently paved the way for innovative therapies. A significant gap, however, exists between the rapidly increasing knowledge, especially of cardiovascular Mendelian disorders, and the medical applications in daily practice. This paper will focus on the practical issues the cardiologist may be faced with when suspecting a Mendelian disorder.
View Article and Find Full Text PDFJ Community Genet
January 2025
Medical Genetics Unit, University Hospital of Parma, Parma, Italy.
In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed the activity data of the medical genetics services in the region, to identify and possibly improve currently open issues.
View Article and Find Full Text PDFAm J Med Genet C Semin Med Genet
January 2025
Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX ("mosaic 45,X") individuals.
View Article and Find Full Text PDFTaiwan J Obstet Gynecol
January 2025
Department of Prenatal Diagnosis, Huangshi Maternity and Children's Health Hospital, Affiliated Maternity and Children's Health Hospital of Hubei Polytechnic University, Huangshi, Hubei, PR China. Electronic address:
Taiwan J Obstet Gynecol
January 2025
Department of Obstetrics, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, PR China. Electronic address:
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