Objectives: To identify factors associated with prenatal, perinatal, and postnatal outcomes, and determine medical care use for fetuses and infants with trisomy 13 (T13) and trisomy 18 (T18).
Study Design: This population-based retrospective cohort study included all prenatal and postnatal diagnoses of T13 or T18 in the greater Cincinnati area from January 1, 2012, to December 31, 2018. Overall survival, survival to hospital discharge, medical management, and maternal, fetal, and neonatal characteristics are analyzed.
Results: There were 124 pregnancies (125 fetuses) that were identified, which resulted in 72 liveborn infants. Male fetal sex and hydrops were associated with a higher rate of spontaneous loss. The median length of survival was 7 and 29 days, for infants with T13 and T18, respectively. Of the 27 infants alive at 1 month of age, 13 (48%) were alive at 1 year of age. Only trisomy type (T13), goals of care (comfort care), and extremely low birthweight were associated with a shorter length of survival. A high degree of variability existed in the use of medical services, with 28% of infants undergoing at least 1 surgical procedure and some children requiring repeated (≤29) or prolonged (>1 year) hospitalizations.
Conclusions: Although many infants with T13 or T18 did not survive past the first week of life, nearly 20% lived for more than 1 year with varying degrees of medical support. The length of survival for an infant cannot be easily predicted, and surviving infants have high health care use throughout their lifespans.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.jpeds.2022.04.010 | DOI Listing |
Int J Pediatr
October 2024
Department of Medicine and Surgery, Faculty of Health Sciences, Universidad CEU Cardenal Herrera, CEU Universities, Valencia, Spain.
This study was aimed at comparing the positive predictive value of a high-risk cell-free fetal DNA test result for sex chromosome aneuploidies (45,X0, 47,XXX, 47,XXY, and 47,XYY) and autosomal trisomies (T21, T18, and T13) with confirmatory tests in singleton pregnancies. Additionally, we identify the main reason for discordant and inconclusive results. PubMed, Web of Science, and Scopus were searched from 2017 for primary research articles on cell-free fetal DNA testing of autosomal trisomies and sex chromosome aneuploidies in singleton pregnancies.
View Article and Find Full Text PDFJ Perinat Med
October 2024
Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Objectives: We reported a performance during an implementation of prenatal cell-free (cf) DNA screening using single nucleotide polymorphism (SNP) approach in our accredited laboratory.
Methods: Prospective audit with prompt intervention was set for the processing of 2,502 samples from singleton pregnancy from August 2017 to July 2019. Risks of trisomy 21 (T21), T18, T13, monosomy X (XO), and other sex chromosome aneuploidies (SCAs) were clarified by a proprietary bioinformatics algorithm.
J Int Med Res
September 2024
Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China.
Fertil Steril
December 2024
CReATe Fertility Centre, Toronto, Ontario, Canada; Department of Obstetrics and Gynecology, University of Toronto, Toronto, Ontario, Canada; Department of Physiology, University of Toronto, Toronto, Ontario, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario, Canada; Department of Obstetrics and Gynecology, Sunnybrook Research Institute, Toronto, Ontario, Canada.
J Clin Med
July 2024
Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
: Non-Invasive prenatal test (NIPT) is used as a universal or contingent test after prior risk assessment. Screening is mainly performed for common trisomies (T21, T13, T18), although other chromosomal anomalies may be detected. Our objective was to study the performance of GWNIPT in the detection of chromosomal abnormalities in pregnancies in which an invasive prenatal study was performed and in early pregnancy losses, in comparison with the reference test.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!