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Incidental Diagnosis of Occult Maternal Malignancy With Routine Noninvasive Prenatal Testing During Pregnancy.
Cureus
December 2024
Maternal Fetal Medicine, Michigan State University College of Human Medicine/Corewell Health, Grand Rapids, USA.
The noninvasive prenatal test (NIPT) for genetic screening has been adopted globally as an alternative to first-trimester and quad screening due to its high sensitivity and specificity. NIPT involves detecting and processing foreign fetal DNA in maternal circulation to screen for fetal aneuploidy. An incidental consequence of this process is the detection of foreign tumor cell DNA in maternal circulation in otherwise asymptomatic patients.
View Article and Find Full Text PDFPrenatal Ultrasound Findings and Chromosomal Outcomes of Pregnancies with Mosaic Embryo Transfer.
Diagnostics (Basel)
December 2024
Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University School of Medicine, Seoul 06125, Republic of Korea.
Background: To investigate prenatal ultrasound findings and the chromosomal outcomes of mosaic embryo transfer.
Methods: This retrospective study was conducted on pregnant women who underwent mosaic embryo transfer following blastocyst-stage preimplantation genetic testing for aneuploidy (PGT-A) at CHA Gangnam Medical Center from January 2021 to July 2024. Trophectoderm biopsy specimens were collected using standard protocols, and next-generation sequencing profiles were defined as mosaics when displaying copy number counts in the 20-80% range.
Comparison of pregnancy outcomes in amniocentesis recipients with normal and abnormal maternal serum analytes.
Cell Mol Biol (Noisy-le-grand)
November 2024
Reproductive Health Research Center, Department of Midwifery and Reproductive Health, Al-Zahra Hospital, Guilan University of Medical Sciences, Rasht, Iran.
Considering the relatively high frequency of genetic disorders associated with negative pregnancy outcomes, in this research, adverse pregnancy outcomes in amniocentesis patients were compared between two groups with normal and abnormal maternal serum analytes. This retrospective cohort study was conducted on singleton pregnant women who underwent amniocentesis and had fetuses with normal chromosomes at the perinatology clinic in Rasht. Eligible patients were divided into two groups of 307 people with normal and abnormal maternal serum analytes based on laboratory screening results.
View Article and Find Full Text PDFOtocephaly Diagnosed Prenatally: A Case Study of a Rare Congenital Defect.
Birth Defects Res
December 2024
Department of Obstetrics and Gynecology, Perinatology unıt of Elazığ City Hospital, Elazığ, Turkey.
Background: Agnathia-otocephaly complex (AOC) is a rare and complex craniofacial malformation characterized by mandibular hypoplasia or agnathia, auricular fusion, microstomia with oroglossal hypoplasia or aglossia. It has a very bad prognosis and can arise alone or in conjunction with heart defects and forebrain abnormalities.
Case Report: A standard second-trimester ultrasound exam was recommended for, a 23-year-old primigravida woman who was at 22 weeks gestation.
Follow-Up of Infants With Congenital Cytomegalovirus Following Maternal Primary Infection in the First Trimester and Normal Fetal Brain Imaging at Midgestation.
Prenat Diagn
December 2024
Obstetric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Objective: To determine outcomes at birth and postnatal sequelae of congenital cytomegalovirus (cCMV) infection following maternal primary infection in the first trimester with normal fetal brain imaging at midgestation.
Methods: A retrospective, single-center cohort study was conducted, including all cases of proven cCMV infection following maternal primary infection in the first trimester from 2014 until 2021 and normal fetal brain imaging before 22 weeks of gestation. All pregnancies were followed according to our protocol, which offers amniocentesis at least 8 weeks after the onset of infection, serial ultrasound scans, and a fetal MRI in the third trimester.
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