A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings
نویسندگان
چکیده
منابع مشابه
Invasive Prenatal (Fetal) Diagnostic Testing
Single-Gene Disorders Invasive diagnostic prenatal (fetal) testing for molecular analysis for single-gene disorders may be considered medically necessary when a pregnancy has been identified as being at high risk: 1. For autosomal dominant conditions, at least 1 of the parents has a known pathogenic mutation. 2. For autosomal recessive conditions: a. Both parents are suspected to be carriers or...
متن کاملNon-invasive prenatal testing.
BACKGROUND Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients sho...
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SNR separates meaningful information (signal) from background information (noise). In statistical applications of SNR, signal is equivalent to a random variable expectation, and noise is equivalent to its variance. Here, cell-free DNA material (containing both maternal and fetal DNA) from pregnant plasma is tested for detection of genomic events in fetal DNA. The fractional fetal DNA in a sampl...
متن کاملInvasive or non-invasive prenatal genetic diagnosis?
About 40 years ago, invasive prenatal diagnosis techniques were introduced in obstetrics. Initially, amniocentesis was performed followed by placentacentesis, fetoscopy, fetal blood sampling (FBS), and chorionic villus sampling (CVS). These procedures, while invading the uterine environment, have made it possible to proceed with the retrieval of biological tissue of fetal origin for analysis an...
متن کاملHoloprosencephaly: A Case Report and Review of Prenatal Sonographic Findings
Holoprosencephaly is a rare intracranial abnormality. The incidence of holoprsencephaly is between 0.56-0.63 of 10,000 live-born infants10. It has classified into three degrees, alobar, semilobar and lobar. In this case report we are introducing a case of Holoprosencephaly, in 13 weeks of pregnancy which was twin. We could identified this abnormality and the reduction was done in the appropriat...
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ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2014
ISSN: 1755-8166
DOI: 10.1186/1755-8166-7-48