Objective: To review the first-year experience implementing a new early screening during pregnancy program for aneuploidy in a community hospital and compare this program with the screening program immediately preceding its implementation.
Methods: The electronic medical records of all pregnant patients referred from May 17, 2005, through December 31, 2006, for genetic counseling were reviewed for maternal characteristics, indication for referral, a priori and adjusted risk of aneuploidy, and patient choice for screening or testing. The new early screening program (nuchal translucency group) consisted of additional educational materials, nuchal translucency, serum biochemical analytes, quad screening, and invasive testing when indicated. This cohort was compared with the patients who received traditional genetic screening or testing (pre-nuchal translucency) immediately preceding the nuchal translucency program.
Results: A total of 101 patients were included in the pre-nuchal translucency group compared with 359 patients in the nuchal translucency group. The most common reason for referral was advanced maternal age; there were no differences in the maternal characteristics between the two groups. Forty-six percent of patients in the early screening program underwent an invasive procedure compared with 76% in the pre-nuchal translucency group (odds ratio 0.26, 95% confidence interval 0.15-0.42; P<.001).
Conclusion: Early screening programs in a single community hospital are feasible and appear to result in a significant reduction in the number of invasive procedures with excellent patient satisfaction and acceptance.
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http://dx.doi.org/10.1097/AOG.0b013e31817e7c32 | DOI Listing |
Br J Hosp Med (Lond)
December 2024
Department of Obstetrics and Gynecology, Rizhao People's Hospital, Rizhao, Shandong, China.
Prenatal diagnosis is a crucial tool in reducing birth defects. Research indicates that whole-exome sequencing (WES) is particularly effective for detecting abnormalities associated with structural ultrasound findings. This study aimed to evaluate the utility of WES in the genetic diagnosis of prenatal ultrasound abnormalities.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
January 2025
Genetic Program, North York General Hospital, Toronto, ON, Canada.
Background: Preeclampsia significantly impacts maternal and perinatal health. Early screening using advanced models and primary prevention with low-dose acetylsalicylic acid for high-risk populations is crucial to reduce the disease's incidence. This study assesses the feasibility of implementing preterm preeclampsia screening and prevention by leveraging information from our current aneuploidy screening program in a real-world setting with geographic separation clinical site and laboratory analysis site.
View Article and Find Full Text PDFPrenat Diagn
January 2025
Discipline of Women's Health, University of New South Wales, Randwick, Australia.
Introduction: Genome-wide non-invasive prenatal testing (gwNIPT) has screening limitations for detectable genetic conditions and cannot detect microdeletions/microduplications (MD) or triploidy. Nuchal translucency (NT) increases with gestation and with genetic or structural abnormalities. This study aims to determine the utility of NT measurement in detecting genetic abnormalities not identified by gwNIPT and the optimal NT threshold value.
View Article and Find Full Text PDFBMC Med Genomics
December 2024
Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian Province, 362000, China.
Background: The literature contains exceedingly limited reports on chromosome 10p15.3 microdeletions. In the present study, two cases of fetuses with pure terminal 10p15.
View Article and Find Full Text PDFEur J Obstet Gynecol Reprod Biol
December 2024
Department of Neonatology, All India Institute of Medical Sciences, Bhubaneswar, Odisha 751019, India. Electronic address:
Background: Arthrogryposis multiplex congenita involves joint contractures across various body parts. Distal arthrogryposis type 5D (DA5D) is a rare, autosomal recessive subtype affecting distal extremities, with symptoms like knee extension contractures, camptodactyly, overriding fingers, ulnar wrist deviation, and scoliosis.
Case: A 24-year-old pregnant woman with a second-degree relative partner had a fetus showing increased nuchal translucency (3.
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