Objective: To investigate whether amniocentesis and chorionic villus sampling increase the risk of postural deformities, limb reduction defects, respiratory problems in the newborn, fetal and infant mortality, prematurity, low birthweight and fetal distress, and to investigate the impact of gestational length at the time of the procedure.
Design: A population-based cohort study.
Setting: Sweden, 1991-1996.
Population: All women, 35 to 49 years old, with single births (n= 71,586). The women were classified as exposed to amniocentesis (n= 21,748) or chorionic villus sampling (n= 1984) or not exposed (n= 47,854).
Methods: Infant outcomes were collected from the Swedish Medical Birth Register, the Swedish Hospital Discharge Register, the Swedish Malformation Register and the Swedish Cause of Death Register. Odds ratios were calculated with logistic regression analyses.
Main Outcome Measures: Crude and adjusted odds ratios of postural deformities, limb reduction defects, respiratory problems in the newborn, fetal and infant mortality, prematurity, low birthweight and fetal distress. Women exposed to amniocentesis or chorionic villus sampling were compared with non-exposed women.
Results: An increased risk of musculoskeletal deformities (OR = 1.32, 95% CI 1.11-1.57) including club foot and hip dislocation was found in the amniocentesis group, especially for amniocentesis prior to 14 weeks of gestation. Respiratory disturbances such as neonatal pneumonia, meconium aspiration, atelectasis and tachypnea were found more often in the amniocentesis group (OR = 1.12, 95% CI 1.02-1.24), with the greatest risk at 14 and 15 weeks of gestation. For the chorionic villus sampling group, no significant associations were found. No increase regarding limb reduction defects, fetal and infant mortality, prematurity, low birthweight and fetal distress was found in either the amniocentesis or the chorionic villus sampling group.
Conclusions: Among women aged 35-49 years, amniocentesis before 14 weeks of gestation increases the risk of postural deformities. Amniocentesis at 14 and 15 weeks increases the risk of respiratory disturbances. For chorionic villus sampling, a larger study group is needed before such risks can be ruled out.
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http://dx.doi.org/10.1111/j.1471-0528.2005.00413.x | DOI Listing |
Am J Med Genet A
January 2025
Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.
We report a 28-year-old G2P0 at 24 weeks 5 days who presented for evaluation secondary to suspected skeletal dysplasia in her fetus. Fetal ultrasound imaging demonstrated foreshortened long bones by 9-10 weeks, multiple bowing deformities and fractures, 11 foreshortened paired ribs with fractures, decreased skull mineralization, frontal bossing, enlarged cavum septum pellucidi, and severe fetal growth restriction (< 2%). Findings were concerning for life limiting condition with thoracic circumference < 2.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Prenatal Diagnosis Center, Xuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, Jiangsu 221009, China.
Objective: To explore the genotype-phenotype correlation in a Charcot-Marie-Tooth type 2A2A (CMT2A2A) pedigree and to provide genetic counseling for its subsequent pregnancies.
Methods: A Chinese pedigree presenting with "lower limb muscle atrophy and movement disorders" at the Prenatal Diagnosis Center of Xuzhou Central Hospital between January and August 2024 was selected as the study subject. Relevant clinical data were collected from the pedigree members.
J Assist Reprod Genet
January 2025
Centro de Asistencia a La Reproducción Humana de Canarias, La Laguna, Santa Cruz de Tenerife, Spain.
Purpose: To evaluate the safety, accuracy, and effectiveness of embryoscopy for the management of early abortion and to test the hypothesis that targeted embryo and chorionic villi sampling avoids maternal cell contamination (MCC) for genetic testing of products of conception (POC).
Methods: This ambispective study included 74 consecutive patients presenting with early abortion. Gestations between 5 and 9 weeks, obtained either spontaneously or through assisted reproductive technologies were included.
Biomedicines
December 2024
Department II of Microscopic Morphology, Victor Babes University of Medicine and Pharmacy Timisoara, E. Murgu Square, No. 2, 300041 Timisoara, Romania.
The placenta is a vital organ that supports fetal development by mediating nutrient and gas exchange, regulating immune tolerance, and maintaining hormonal balance. Its formation and function are tightly linked to the processes of embryo implantation and the establishment of a robust placental-uterine interface. Recent advances in molecular biology and histopathology have shed light on the key regulatory factors governing these processes, including trophoblast invasion, spiral artery remodeling, and the development of chorionic villi.
View Article and Find Full Text PDFHeliyon
December 2024
Department of Obstetrics and Gynaecology, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
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