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Non-Invasive Prenatal Screening from a Genetic Counseling Prospective: Pre and Post-Genetic Counseling Regarding Rare Chromosomal Abnormalities and Incidental Finding.
Genes (Basel)
October 2024
Medical and Laboratory Genetics Unit, A.O.R.N. "Antonio Cardarelli", 80131 Naples, Italy.
Background: Arising in the late 1990s, when a promising role in prenatal diagnostics was first delineated for circulating fetal DNA, non-invasive prenatal tests (NIPTs) have been increasingly used with more frequency and popularity. These exams have been used as a prenatal screening tests for genetic diseases. Initially, they were developed for the investigation of the main fetal chromosomal aneuploidies, but lately they have also been used to rule out genomic microrearrangements and monogenic conditions.
View Article and Find Full Text PDFImplementing Best Practice When Screening Birthing People for a Substance Use Disorder.
J Midwifery Womens Health
December 2024
Midwifery Program, Division of Advanced Nursing Practice, School of Nursing, Rutgers, The State University of New Jersey, Newark, New Jersey.
Screening for substance use disorder (SUD) is an essential part of antepartum care. Best practice for screening requires the use of a validated tool early in pregnancy to identify those at risk and to connect them with counseling and treatment. In many health systems and practices, urine toxicology testing is erroneously employed as a SUD screening tool despite consistent recommendations against its routine use.
View Article and Find Full Text PDFArticle Synopsis
- Thalassemia is a serious genetic blood disorder that requires frequent blood transfusions, and this report documents a unique case of a fetus diagnosed with both β-thalassemia major and the rare Klinefelter syndrome (48,XXYY).
- Researchers used amniotic fluid samples for prenatal diagnosis, employing techniques like PCR and karyotype analysis to identify the fetal conditions.
- The findings highlight the challenges in genetic counseling and prenatal diagnosis, especially regarding the unexpected presence of the rare Klinefelter syndrome alongside β-thalassemia major.
Fetal whole genome sequencing as a clinical diagnostic tool: Advantages, limitations and pitfalls.
Best Pract Res Clin Obstet Gynaecol
December 2024
Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva 4941492, Israel; Ultrasound Unit, The Helen Schneider Women's Hospital, Rabin Medical Center - Beilinson Hospital, Petach Tikva 4941492, Israel.
Genome-wide sequencing, which includes exome sequencing and genome sequencing, has revolutionized the diagnostics of genetic disorders in both postnatal and prenatal settings. Compared to exome sequencing, genome sequencing enables the detection of many additional types of genomic variants, although this depends on the bioinformatics pipelines used. Variant classification might vary among laboratories.
View Article and Find Full Text PDFPrenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.
NPJ Genom Med
September 2024
AP-HP, Hôpital Cochin, DMU BioPhyGen, Université Paris Cité, Paris, France.
Article Synopsis
- * Out of 207 fetuses, 41% were diagnosed with the NF1 variant, leading to 135 pregnancies carried to term, including 16 affected children, while 69 pregnancies were terminated due to NF1.
- * Our findings highlight the complexities of PND, especially in cases of mosaic NF1, where indirect testing can lead to unexpected results, emphasizing the need for careful medical and genetic counseling.
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