Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies

Wilson, R. Douglas; Audibert, François; Blight, Claire; Brock, Jo-Ann; Cartier, Lola; Carroll, June C.; Gagnon, Alain; Johnson, Jo-Ann; Murphy-Kaulbeck, Lynn; Okun, Nanette; Pastuck, Melanie; Senikas, Vyta; Langlois, Sylvie; Chitayat, David; DeBie, Isabelle; Demczuk, Suzanne; Désilets, Valerie; Geraghty, Michael T.; Marcadier, Janet; Nelson, Tanya N.; Skidmore, David; Siu, Vicky

doi:10.1016/s1701-2163(16)34961-1

Cited by 111 publications

(84 citation statements)

References 97 publications

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“…We chose the cut-off of 16 weeks' gestation because guidelines suggest that most women should be offered prenatal screening by this point. 1 We used multiple linked health and demographic datasets from Ontario. The province provides universal health care insurance that includes access to all routine pregnancy care services for all legal residents.…”

Section: Methodsmentioning

confidence: 99%

Rates of prenatal screening across health care regions in Ontario, Canada: a retrospective cohort study

Hayeems

Campitelli

et al. 2015

CMAJ Open

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Section: Methodsmentioning

confidence: 99%

Rates of prenatal screening across health care regions in Ontario, Canada: a retrospective cohort study

Hayeems

Campitelli

et al. 2015

CMAJ Open

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“…These multiple markers include pregnancy associated protein (PAPP‐A), human chorionic gonadotropin (hCG), alpha fetoprotein (AFP), estradiol (uE3), and inhibin A (DIA). The normal values of these biochemical markers vary depending on gestational age and maternal characteristics such as age, race/ethnicity, weight, presence of diabetes, or singleton versus multiple gestation . Accurate test interpretation and risk determination are therefore dependent on accurate pregnancy dating and reporting of relevant maternal characteristics.…”

Section: An Overview Of Prenatal Screening and Diagnostic Toolsmentioning

confidence: 99%

“…For example, phenotypic characteristics often found in individuals with trisomy 21 include nuchal thickening, shortened limbs, hyperechoic bowel, and hypoplastic nose . Ultrasound examination in the first trimester can identify nuchal thickening, and anatomical ultrasound in the second trimester is effective in identifying dysmorphology …”

Section: An Overview Of Prenatal Screening and Diagnostic Toolsmentioning

confidence: 99%

An Update on Current Prenatal Testing Options: First Trimester and Noninvasive Prenatal Testing

Latendresse¹,

Deneris²

2015

J Midwife Womens Health

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Prenatal genetic testing is rapidly evolving and requires that prenatal care providers stay up-to-date with accurate, evidence-based knowledge. Noninvasive prenatal testing (NIPT), first trimester maternal serum markers, and fetal nuchal translucency are the most recently developed screening tests added to the testing repertoire for detection of chromosomal disorders such as trisomy 21 (Down syndrome). NIPT is a new, highly accurate technique that uses maternal serum and is rapidly being introduced as a first trimester screening tool and increasingly being requested by pregnant women. The American College of Obstetricians and Gynecologists recommends that all pregnant women be offered first and second trimester screening options, regardless of risk status, but does not yet recommend NIPT. It is important for prenatal care providers to be aware of and understand these testing options in order to assist women and their families in making well-informed decisions during pregnancy. The purpose of this article is to update midwives and other prenatal care providers on the current prenatal genetic testing options available and how to appropriately offer and discuss them with their clients. We discuss how these tests work; what to do with the results; and most importantly, how to support and communicate accurate information to women and families as they navigate through an increasingly complicated array of testing choices.

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“…Genetic prenatal diagnosis for fetal aneuploidies, such as trisomy 21 (Down syndrome), 13, and 18, has been an integral part of prenatal medicine for more than 40 years. To this day, definitive prenatal diagnosis of DS can only be achieved by the sampling of fetal material obtained through invasive testing (amniocentesis or chorionic villus sampling), which is associated with a 1 in 200 chance of fetal miscarriage 2,3. Therefore, to limit the number of invasive procedures, current screening programs for DS generally combine initial noninvasive risk screening strategies that use maternal serum with or without ultrasound markers in a mathematical model to estimate an overall personal risk score for each woman for carrying a fetus with DS.…”

Section: Current Prenatal Diagnosis For Fetal Aneuploidiesmentioning

confidence: 99%

Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma

Gekas¹,

Langlois²,

Ravitsky³

et al. 2014

TACG

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Current prenatal diagnosis for fetal aneuploidies (including trisomy 21 [T21]) generally relies on an initial biochemical serum-based noninvasive prenatal testing (NIPT) after which women who are deemed to be at high risk are offered an invasive confirmatory test (amniocentesis or chorionic villi sampling for a fetal karyotype), which is associated with a risk of fetal miscarriage. Recently, genomics-based NIPT (gNIPT) was proposed for the analysis of fetal genomic DNA circulating in maternal blood. The diffusion of this technology in routine prenatal care could be a major breakthrough in prenatal diagnosis, since initial research studies suggest that this novel approach could be very effective and could reduce substantially the number of invasive procedures. However, the limitations of gNIPT may be underappreciated. In this review, we examine currently published literature on gNIPT to highlight advantages and limitations. At this time, the performance of gNIPT is relatively well-documented only in high-risk pregnancies for T21 and trisomy 18. This additional screening test may be an option for women classified as high-risk of aneuploidy who wish to avoid invasive diagnostic tests, but it is crucial that providers carefully counsel patients about the test’s advantages and limitations. The gNIPT is currently not recommended as a first-tier prenatal screening test for T21. Since gNIPT is not considered as a diagnostic test, a positive gNIPT result should always be confirmed by an invasive test, such as amniocentesis or chorionic villus sampling. Validation studies are needed to optimally introduce this technology into the existing routine workflow of prenatal care.

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Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies

Cited by 111 publications

References 97 publications

Rates of prenatal screening across health care regions in Ontario, Canada: a retrospective cohort study

Rates of prenatal screening across health care regions in Ontario, Canada: a retrospective cohort study

An Update on Current Prenatal Testing Options: First Trimester and Noninvasive Prenatal Testing

Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma

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