Adjusted risk for trisomy 21 after the anomaly scan. How accurate is the Fetal Medicine Foundation algorithm?
Summary of "Adjusted risk for trisomy 21 after the anomaly scan. How accurate is the Fetal Medicine Foundation algorithm?"
To examine the accuracy of the Fetal Medicine Foundation algorithm used to adjust the risk for trisomy 21 after ultrasound findings detected or not at the time of the anomaly scan.
This was a retrospective study of all amniocenteses performed in a single centre, in singleton pregnancies, between 1998 and 2008. Maternal demographic characteristics, second-trimester ultrasound findings, indications for amniocentesis and karyotype results were reviewed. The algorithm introduced by the Fetal Medicine Foundation was used to calculate the patient specific risk for trisomy 21 using the age related background risk and anomaly scan findings. Expected trisomy 21 cases based on these risks was compared with the actual karyotype results.
Overall, 4,511 cases of singleton pregnancies that underwent second-trimester amniocentesis were reviewed. In 572 cases (12.7%), there were markers of chromosomal abnormality and no previous screening for trisomy 21. The expected number of trisomy 21 cases based on maternal age for this population of 572 cases was 1. The expected number of chromosomal abnormalities after adjusting for ultrasound findings based on the algorithm introduced by the Fetal Medicine Foundation was 6.9 (95% confidence interval 3.4-14.3). After karyotyping, in this population there were 6 cases of trisomy 21, 1 case of Trisomy 18 and 1 case of XXY.
The algorithm that adjusts the age related risk of trisomy 21 according to second-trimester anomaly scan findings is very accurate in predicting the modified risk.
Iakentro Medical Center, 22 Tritonos Str, 54351, Thessaloniki, Greece, firstname.lastname@example.org.
This article was published in the following journal.
Name: Archives of gynecology and obstetrics
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/21773782
- DOI: http://dx.doi.org/10.1007/s00404-011-1996-5
To investigate trends in prenatal diagnosis and termination of pregnancy rates in cases of fetal cleft lip with or without cleft palate (CL±P), before and after the introduction of the 20 weeks ano...
This is a case report of a patient with Trisomy 21 with Ebstein anomaly, a ventricular septal defect, and acquired pulmonary vein stenosis; a rare combination, diagnosed during a routine neonatal exam...
Abstract Background: Multiple first trimester aneuploidy sonomarkers have been introduced recently. Objective: To evaluate the efficacy of first trimester sonomarkers in fetal aneuploidy detection wit...
Massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma has revolutionized our ability to perform noninvasive prenatal diagnosis. This approach avoids the risk of fetal loss as...
Noninvasive prenatal testing (NIPT) for fetal trisomy 21 (T21) by massively parallel shotgun sequencing (MPSS) is a clinical reality but its efficacy is limited by several factors, for example, the pr...
The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chr...
Validate that circulating cell free fetal nucleic acid can be used to identify a direct marker for fetal aneuploidy, particularly fetal Down Syndrome (DS), that is better than surrogate ma...
The aim of this study is 1) to study the clinical application of 3D/4D ultrasound for fetal scanning during pregnancy; 2) ) to study the clinical application of 3D/4D ultrasound for pelvic...
A major goal of perinatal care is to accurately diagnose fetal anomalies prior to birth. This capability allows clinicians to make prudent decisions regarding antepartum care, delivery sit...
The primary objective of this study is to determine the performance characteristics (sensitivity and specificity) of the Artemis Health Test to detect fetal Trisomy 21 (T21) compared to ka...
Medical and Biotech [MESH] Definitions
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
A nonreassuring fetal status (NRFS) indicating that the FETUS is compromised (American College of Obstetricians and Gynecologists 1988). It can be identified by sub-optimal values in FETAL HEART RATE; oxygenation of FETAL BLOOD; and other parameters.
A complication of pregnancy in which the UMBILICAL CORD wraps around the fetal neck once or multiple times. In some cases, cord entanglement around fetal neck may not affect pregnancy outcome significantly. In others, the nuchal cord may lead to restricted fetal blood flow, oxygen transport, fetal development, fetal movement, and complicated delivery at birth.
Prenatal interventions to correct fetal anomalies or treat FETAL DISEASES in utero. Fetal therapies include several major areas, such as open surgery; FETOSCOPY; pharmacological therapy; INTRAUTERINE TRANSFUSION; STEM CELL TRANSPLANTATION; and GENE THERAPY.
A method of differentiating individuals based on the analysis of qualitative or quantitative biological traits or patterns. This process which has applications in forensics and identity theft prevention includes DNA profiles or DNA fingerprints, hand fingerprints, automated facial recognition, iris scan, hand geometry, retinal scan, vascular patterns, automated voice pattern recognition, and ultrasound of fingers.