Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH?
نویسندگان
چکیده
OBJECTIVE To examine the possible association between high fetal nuchal translucency thickness (NT) and pathogenic chromosomal copy number variants (CNVs) detected by array comparative genomic hybridization (CGH) in pregnancies with normal fetal karyotype. METHODS Array CGH was carried out in stored samples of chorionic villi from 215 singleton pregnancies resulting in live births in which chorionic villus sampling at 11-13 weeks' gestation for high fetal NT (≥ 3.5 mm) had demonstrated normal karyotype. RESULTS Median fetal NT was 4.0 (range, 3.5-9.5) mm. Array CGH detected additional CNVs in 1.4% (95% CI, 0.5-4.0) of the cases, but none of these was a known pathogenic CNV. CONCLUSION High fetal NT in the absence of sonographically detectable defects may not be associated with pathogenic CNVs.
منابع مشابه
Evaluation of Nuchal Translucency Measuremen in First Trimester Pregnancy
Background A significant number of pregnancies, particularly in women with previous histories of infertility, are associated with fetal abnormalities. Methods such as the nuchal translucency (NT) measurement enable us to identify more pregnancies with chromosomal abnormalities. MaterialsAndMethods This analytic cross-sectional study was performed in 446 pregnant women at 11-14 weeks gestation, ...
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Background: Prenatal diagnosis for Fetal Chromosomal anomalies currently relies on assessment of risk followed by a combination of biochemical and nuchal translucency. Trisomy 21 is the most common trisomy that is associated with intellectual disability. Pregnant women who receive a prenatal diagnosis of trisomy 21 currently have the option of continuing or terminating their pregnancy, but no f...
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We have studied changes in first trimester fetal nuchal translucency (NT) and maternal serum free beta-hCG and PAPP-A with gravidity and parity in 3252 singleton pregnancies unaffected by chromosomal abnormality or major pregnancy complications. We have shown that gravidity and parity is associated with a small but progressive decrease in fetal NT and a small but progressive increase in free be...
متن کاملFirst-trimester nuchal translucency measurement and echocardiography at 16 to 18 weeks of gestation in prenatal detection for trisomy 18.
BACKGROUND Trisomy 18, the second most common autosomal trisomy, has the highest incidence of congenital heart disease of all chromosomal abnormalities. This study assessed the use of nuchal translucency (NT) measurement and fetal echocardiography at 16 to 18 weeks of gestation in prenatal detection for trisomy 18. METHODS Screening for chromosomal aneuploidy using fetal NT measurement was pe...
متن کاملImpact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities.
OBJECTIVES To examine the prevalence of alobar holoprosencephaly, exomphalos, megacystis and nuchal translucency thickness (NT) ≥ 3.5 mm, the incidence and types of chromosomal abnormalities associated with these conditions and their overall impact on the rate of invasive testing and performance of screening at 11-14 weeks. METHODS This was a prospective screening study for trisomies 21, 18 a...
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ورودعنوان ژورنال:
- Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
دوره 43 6 شماره
صفحات -
تاریخ انتشار 2014