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By Chad Klauser Maternal Fetal Medicine physician in NYC
Francisco Alvarez-Nava, Marisol Soto, Roberto Lanes, Hector Pons, Alisandra Morales-Machin, Ana Bracho
AIM: The objective of this study was to determine the ability of biochemical analytes to identify adverse outcomes in pregnancies with Turner syndrome. METHODS: Maternal serum and amniotic fluid (AF) marker concentrations were measured in 73 singleton pregnancies with Turner syndrome (10-22 weeks of gestation). Fetal Turner syndrome was definitively established by cytogenetic analysis. Two subgroups, fetuses with hydrops fetalis versus fetuses with cystic hygroma, were compared...
December 2015: Journal of Obstetrics and Gynaecology Research
E Bevilacqua, M M Gil, K H Nicolaides, E Ordoñez, V Cirigliano, H Dierickx, P J Willems, J C Jani
OBJECTIVES: To report clinical implementation of cell-free DNA (cfDNA) analysis of maternal blood in screening for trisomies 21, 18 and 13 in twin pregnancies and examine variables that could influence the failure rate of the test. METHODS: cfDNA testing was performed in 515 twin pregnancies at 10-28 weeks' gestation. The failure rate of the test to provide results was compared with that in 1847 singleton pregnancies, and logistic regression analysis was used to determine which factors among maternal and pregnancy characteristics were significant predictors of test failure...
January 2015: Ultrasound in Obstetrics & Gynecology
Claudio Giorlandino, Pietro Cignini, Francesco Padula, Diana Giannarelli, Laura d'Emidio, Alessia Aloisi, Francesco Plotti, Roberto Angioli
OBJECTIVE: Nuchal translucency (NT) seen ultrasonographically at 11-14 weeks' gestation is a sensitive marker for Down syndrome. Despite its important role for Down syndrome screening, its use is still considered controversial due to high false-positive rates. We speculated that progesterone could lead to abnormal blood flow patterns and, subsequently, to increased NT. Our primary endpoint was to evaluate the effects of exogenous progesterone on NT thickness compared to controls. The secondary endpoint was to evaluate these effects in a subgroup at low risk for fetal aneuploidies, identifying the strongest factors influencing NT variation...
March 2015: American Journal of Obstetrics and Gynecology
M I Evans, J D Sonek, T W Hallahan, D A Krantz
OBJECTIVES: To determine whether implementation of primary cell-free fetal DNA (cffDNA) screening would be cost-effective in the USA and to evaluate potential lower-cost alternatives. METHODS: Three strategies to screen for trisomy 21 were evaluated using decision tree analysis: 1) a primary strategy in which cffDNA screening was offered to all patients, 2) a contingent strategy in which cffDNA screening was offered only to patients who were high risk on traditional first-trimester screening and 3) a hybrid strategy in which cffDNA screening was offered to all patients ≥ 35 years of age and only to patients < 35 years who were high risk after first-trimester screening...
January 2015: Ultrasound in Obstetrics & Gynecology
D Wright, A Wright, K H Nicolaides
OBJECTIVE: To examine the potential impact of combining measures from cell-free DNA (cfDNA) testing with maternal age and first-trimester biomarkers in screening for fetal trisomies. METHODS: This was a theoretical study using Bayes' theorem to combine the a priori risk for fetal trisomy 21 derived from maternal age with likelihoods from nuchal translucency thickness, serum pregnancy-associated plasma protein-A, serum free β-human chorionic gonadotropin and plasma cfDNA...
January 2015: Ultrasound in Obstetrics & Gynecology
Cihan Togrul, Gulnur M Ozaksit, Kerem D Seckin, Eralp Baser, Mehmet F Karsli, Tayfun Gungor
OBJECTIVE: The aim of the present study was to evaluate the utility of ductus venosus (DV) and hepatic artery (HA) doppler in pregnant women who have high risk for aneuploidy in first trimester combined screening. METHODS: This prospective study was performed between February 2011 and February-2012, at a tertiary referral hospital. Singleton pregnancies with high risk for aneuploidy in combined screening test and normal nuchal translucency (NT) measurements were included in the study group...
2015: Journal of Maternal-fetal & Neonatal Medicine
Joy Liau, Lorene Romine, Lauren A Korty, Cherng Chao, Katherine White, Sheena Harmon, Yoona Ho, Andrew D Hull, Dolores H Pretorius
Sonographic aneuploidy markers and structural anomalies associated with the 5 most common chromosomal aneuploidies are organized and simplified to highlight the many sonographic findings that are commonly seen with each aneuploidy. Identification of these findings allows families to have the option to pursue prenatal genetic testing to confirm or exclude chromosomal abnormalities suggested by such prenatal ultrasound findings and make informed decisions about the subsequent management of their pregnancy. We review the most common major human chromosomal aneuploidies, including trisomies 21, 18, and 13; Turner syndrome; and triploidy...
November 2014: Current Problems in Diagnostic Radiology
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