From January 2002 up to June 2003 year we performed 19 amniocentesis during second trimester of pregnancy, upon medical indications. There was only one complication--flow out of amniotic fluid after the amniocentesis. We adopted the conservative treatement--bed rest and antibiotics: the flow stopped 18 days after the amniocentesis and te pregnancy reached uncomplicated termin with a healthy newborn.
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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 PDFTaiwan J Obstet Gynecol
January 2025
Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Medical Research, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan; Department of Medical Sciences, National Tsing Hua University, Hsinchu, Taiwan. Electronic address:
Objective: Ichthyosis are complex skin diseases, characterized by hyperkeratosis with various degrees of thickening, desquamation, and erythema. The prenatal diagnosis of ichthyosis is challenged due to the clinical and genetic heterogeneity and the late-onset of fetal features on ultrasound scan. Here, we reported two fetuses with Harlequin ichthyosis (HI), a severe subtype of autosomal recessive congenital ichthyosis (ARCI), who were diagnosed prenatally by images and genetic investigations.
View Article and Find Full Text PDFDiagnostics (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.
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 PDFBirth 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.
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