Practice Bulletin No. 163: Screening for Fetal Aneuploidy

  title={Practice Bulletin No. 163: Screening for Fetal Aneuploidy},
  journal={Obstetrics \& Gynecology},
  • Published 1 May 2016
  • Medicine
  • Obstetrics & Gynecology
Prenatal genetic screening is designed to assess whether a patient is at increased risk of having a fetus affected by a genetic disorder. In contrast, prenatal genetic diagnostic testing is intended to determine, with as much certainty as possible, whether a specific genetic disorder or condition is present in the fetus. The purpose of prenatal screening for aneuploidy is to provide an assessment of the woman’s risk of carrying a fetus with one of the more common fetal aneuploidies. This is in… Expand
Genetic diagnosis in the fetus
The various modalities currently available and commonly used for genetic testing, including preimplantation genetic testing of embryos, cell-free DNA testing, and diagnostic procedures such as chorionic villous sampling, amniocentesis, or percutaneous umbilical blood sampling, are addressed. Expand
Fetal Aneuploidy: Screening and Diagnostic Testing.
Fetal cell-free DNA testing (noninvasive prenatal testing) performed at or after 10 weeks' gestation detects more than 99% of trisomy 21 cases, with a lower false-positive rate than traditional first- or second-trimester screening methods. Expand
Before the beginning: the genetic risk of a couple aiming to conceive.
PGT with the use of trophectoderm biopsy, 24-chromosome testing, and molecular testing have allowed wider applicability for avoiding a clinical pregnancy termination, and novel approaches exist for detecting perturbations in single-gene disorders. Expand
Innovative technologies for diagnosis and screening of genetic diseases in antenatal age
The combination of innovative diagnostic technologies with the increase in demand has contributed to the practice of antenatal diagnosis and non-invasive prenatal screening (NIPT) and the offer for diagnostic tests in reproductive medicine is increased. Expand
Determinant of Prenatal Diagnostic Testing Among Women with Increased Risk of Fetal Aneuploidy and Genetic Disorders.
Age, race, ethnicity and cumulative number of indications for genetic counseling influenced acceptance of diagnostic testing in at-risk women of fetal aneuploidy and genetic disorders. Expand
Current landscape of prenatal genetic screening and testing
The array of available screening and testing modalities are increasing and the various options differ in methodology, accuracy, timing and indication for testing, and information they provide. Expand
Screening for fetal chromosomal and subchromosomal disorders.
It is important that obstetricians understand the biological foundations and limitations of this technology and provide patients with up-to-date information regarding cfDNA screening, as the technology continues to push the boundaries of prenatal screening. Expand
Beyond the Brochure: Innovations in Clinical Counseling Practices for Prenatal Genetic Testing Options
This article will arm providers with the knowledge needed to educate women about currently available prenatal genetic screening and diagnostic tests along with guidance on the essential elements and importance of genetic counseling. Expand
Non-invasive Prenatal Testing: A Unique Approach with Single Nucleotide Polymorphism
The ability of the SNP-based approach to screen for vanishing twins and maternal copy number variants reduces false positives; and the ability to make high confidence calls at lower fetal fraction, minimizes discordance between the NIPT result and the true fetal status. Expand
Cell Free DNA Analysis for Chromosomal Abnormalities among Pregnant Females of Pakistan
The importance and prospects of exploring the maternal plasma Cell-free DNA (cfDNA) screening in high risk mothers in Pakistan as well as the limitations and strengths of the technique are highlighted. Expand