Objective: To determine the short-term outcomes of second-trimester genetic amniocentesis at Siriraj Hospital, Bangkok, Thailand.
Methods: In a retrospective descriptive study, data were assessed from women with a singleton pregnancy who underwent genetic amniocentesis between 16 and 21 gestational weeks at the Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Siriraj Hospital, from May 2007 to June 2012. The amniocentesis records and medical data of all women were analyzed statistically.
Results: During the 5-year period, complete data were collected for 3307 pregnant women. The rate of total pregnancy loss within 4 weeks of testing was 7 out of 3307 (0.2%; 95% confidence interval, 0.1%-0.4%). Advanced maternal age (≥35 years) was the most common indication for amniocentesis (94.6%). The culture failure rate was 0.2%. Chromosomal abnormalities were detected in 109 pregnancies (3.3%); trisomy 21 was the most prevalent abnormality (0.8%). The possible risk factors of fetal loss were early amniocentesis (gestational age, <18 weeks) (P=0.013), abnormal fetal sonography (P=0.004), culture failure (P=0.015), and old-blood- or murky-stained amniotic fluid (P=0.036).
Conclusion: Second-trimester genetic amniocentesis resulted in 0.2% of total pregnancy loss within 4 weeks of testing. This information is essential for patient counseling before amniocentesis.
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http://dx.doi.org/10.1016/j.ijgo.2013.09.019 | DOI Listing |
Taiwan 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 PDFTaiwan J Obstet Gynecol
January 2025
Department of Obstetrics and Gynecology, Changhua Christan Hospital, Changhua, Taiwan. Electronic address:
Objective: Prenatal diagnosis of fetal 13q34 microdeletion is a rare condition, which may present with abnormal fetal development, including facial dysmorphism, mental retardation, and developmental delay. We present a pregnant woman in whom the fetus presented with a 0.24-cm ventricular septal defect at 20 weeks of gestation, with fetal 13q34 (113610612-115092648) deletion.
View Article and Find Full Text PDFEur J Obstet Gynecol Reprod Biol
January 2025
Department of Clinical Laboratory, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, PR China. Electronic address:
Objective: To report a rare 17q12 microduplication family.
Case Report: A 29-year-old woman (gravida 1, para 0) underwent amniocentesis at 21 weeks' gestation because of double bubble sign and polyhydramnios of the fetus on prenatal ultrasound. Chromosomal microarray analysis (CMA) from this family revealed a 1.
Orphanet J Rare Dis
January 2025
Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Purpose: Severe combined immunodeficiency (SCID) is a set of rare monogenic inherited diseases that together represent the most severe form of the primary immunodeficiency disease phenotype. Preimplantation genetic testing for monogenic defects (PGT-M) is an effective reproductive technology strategy to prevent disease-causing gene mutations from being transmitted to offspring. The aim of this study was to report the use of PGT-M strategy based on karyomapping in four families to avoid the birth of SCID children.
View Article and Find Full Text PDFBlood
December 2024
Sanquin, Amsterdam, Netherlands.
Alloimmunization during pregnancy occurs when a mother produces antibodies against fetal antigens, leading to complications like hemolytic disease of the fetus and newborn (HDFN) and fetal and neonatal alloimmune thrombocytopenia (FNAIT). HDFN involves destruction of fetal red blood cells, potentially causing severe anemia, hydrops fetalis, and fetal death. FNAIT affects fetal platelets and possibly endothelial cells, resulting in risk of intracranial hemorrhage and brain damage.
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