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A Case of OHVIRA (Obstructed Hemivagina and Ipsilateral Renal Anomaly) Syndrome Diagnosed After Signs of Infection During Pregnancy.
Cureus
September 2024
Department of Obstetrics and Gynecology, Faculty of Medicine, Fukuoka University, Fukuoka, JPN.
Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is a rare group of disorders that affects women at all stages of life. These disorders can elicit symptoms such as menstrual molimina and dysmenorrhea during puberty; miscarriage, premature birth, and infertility during childbearing age; and purulent discharge during menopause and old age. In this study, we report our experience with OHVIRA syndrome, which was diagnosed during childbearing age when the patient showed signs of infection during pregnancy.
View Article and Find Full Text PDFCytomegalovirus (CMV) is the most common cause of viral infection in newborn babies, and affects 1 in 200 of all live born infants in high-income countries; and 1 in 71 in low- and middle-income countries. It is a major cause of hearing loss and brain damage. Women may get CMV infection for the first time during pregnancy (primary infection) or may experience 'non-primary' infection, either by reactivation of previous CMV infection or by a new infection with a different strain of the virus.
View Article and Find Full Text PDFIntegrated management and prognosis analysis of 30 cases of fetal pulmonary valve abnormalities during pregnancy and perinatal period: a retrospective study.
Transl Pediatr
September 2024
Obstetrics and Gynecology Department, Peking University People's Hospital, Beijing, China.
Article Synopsis
- The study investigates prenatal consultation and integrated management of fetal pulmonary valve anomalies (PVA) in China, emphasizing the need for timely intervention after birth.
- Researchers analyzed data from 30 fetal PVA cases at Peking University People's Hospital between January 2019 and March 2023, finding varied conditions like pulmonary atresia with intact ventricular septum and pulmonary stenosis.
- Outcomes showed that most patients received effective postnatal treatments, with the majority recovering well; however, some families chose pregnancy termination based on the severity of the condition.
Technically feasible solutions to challenges in preimplantation genetic testing for thalassemia: experiences of multiple centers between 2019 and 2022.
J Assist Reprod Genet
November 2024
Reproductive Medicine Center, The Sixth Affiliated Hospital of Sun Yat-Sen University, Guangzhou, 510655, China.
Purpose: In clinical practice, the success of preimplantation genetic testing for monogenic diseases (PGT-M) for thalassemia was hindered by the absence of probands, incomplete family members, or failure in detecting embryonic gene mutation sites. This study aimed to address these issues.
Methods: This retrospective study included 342 couples undergoing PGT-M for α- or β-thalassemia at three reproductive medicine centers from 2019 to 2022.
Prenatal 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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