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Fetal testing

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16 papers 500 to 1000 followers
By Chad Klauser Maternal Fetal Medicine physician in NYC
Greggory R DeVore
The cerebroplacental ratio (CPR) is emerging as an important predictor of adverse pregnancy outcome, and this has implications for the assessment of fetal well-being in fetuses diagnosed as small for gestational age (SGA) and those appropriate for gestational age close to term. Interest in this assessment tool has been rekindled because of recent reports associating an abnormal ratio with adverse perinatal events and associated postnatal neurological outcome. Fetuses with an abnormal CPR that are appropriate for gestational age or have late-onset SGA (>34 weeks of gestation) have a higher incidence of fetal distress in labor requiring emergency cesarean delivery, a lower cord pH, and an increased admission rate to the newborn intensive care unit when compared with fetuses with a normal CPR...
July 2015: American Journal of Obstetrics and Gynecology
Germaine M Buck Louis, Jagteshwar Grewal, Paul S Albert, Anthony Sciscione, Deborah A Wing, William A Grobman, Roger B Newman, Ronald Wapner, Mary E D'Alton, Daniel Skupski, Michael P Nageotte, Angela C Ranzini, John Owen, Edward K Chien, Sabrina Craigo, Mary L Hediger, Sungduk Kim, Cuilin Zhang, Katherine L Grantz
OBJECTIVE: Fetal growth is associated with long-term health yet no appropriate standards exist for the early identification of undergrown or overgrown fetuses. We sought to develop contemporary fetal growth standards for 4 self-identified US racial/ethnic groups. STUDY DESIGN: We recruited for prospective follow-up 2334 healthy women with low-risk, singleton pregnancies from 12 community and perinatal centers from July 2009 through January 2013. The cohort comprised: 614 (26%) non-Hispanic whites, 611 (26%) non-Hispanic blacks, 649 (28%) Hispanics, and 460 (20%) Asians...
October 2015: American Journal of Obstetrics and Gynecology
Pongsun Puntachai, Chanane Wanapirak, Supatra Sirichotiyakul, Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan, Kuntharee Traisrisilp, Theera Tongsong
OBJECTIVE: To determine the relationship between adverse pregnancy outcomes and maternal serum alpha-fetoprotein (MSAFP) levels. MATERIALS AND METHODS: A retrospective cohort study was conducted on consecutive singleton pregnancies, screened for fetal Down syndrome, in the northern part of Thailand. The prospective database of our fetal Down screening program was assessed to recruit all consecutive records. Pregnancies with medical complication and fetal abnormality were excluded...
July 2015: Archives of Gynecology and Obstetrics
Badreldeen Ahmed, Mandy Abushama, Majeda Khraisheh, J Dudenhausen
The purpose of this review is to discuss the established role of ultrasound (US) in the management of pregnancy complicated by diabetes mellitus (DM), as well as new developments with regard to the use of US in this situation. We choose to explore the role of US in pregnancy complicated by DM in three areas: (1) Role of US in estimation of fetal weight. (2) Role of US in diagnosis of congenital malformation. (3) Role of US in monitoring diabetic pregnant patients.
2015: Journal of Maternal-fetal & Neonatal Medicine
F A R Jansen, Y J Blumenfeld, A Fisher, J M Cobben, A O Odibo, A Borrell, M C Haak
OBJECTIVE: Array comparative genomic hybridization (aCGH) is a molecular cytogenetic technique that is able to detect the presence of copy number variants (CNVs) within the genome. The detection rate of imbalances by aCGH compared to standard karyotyping and 22q11 microdeletion analysis by fluorescence in-situ hybridization (FISH), in the setting of prenatally-diagnosed cardiac malformations, has been reported in several studies. The objective of our study was to perform a systematic literature review and meta-analysis to document the additional diagnostic gain of using aCGH in cases of congenital heart disease (CHD) diagnosed by prenatal ultrasound examination, with the aim of assisting clinicians to determine whether aCGH analysis is warranted when an ultrasonographic diagnosis of CHD is made, and to guide counseling in this setting...
January 2015: Ultrasound in Obstetrics & Gynecology
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
Ashley S Roman, Simi Gupta, Nathan S Fox, Daniel Saltzman, Chad K Klauser, Andrei Rebarber
INTRODUCTION: To evaluate whether maternal serum α-fetoprotein (MSAFP) improves the detection rate for open neural tube defects (ONTDs) and ventral wall defects (VWD) in patients undergoing first-trimester and early second-trimester fetal anatomical survey. MATERIAL AND METHODS: A cohort of women undergoing screening between 2005 and 2012 was identified. All patients were offered an ultrasound at between 11 weeks and 13 weeks and 6 days of gestational age for nuchal translucency/fetal anatomy followed by an early second-trimester ultrasound at between 15 weeks and 17 weeks and 6 days of gestational age for fetal anatomy and MSAFP screening...
2015: Fetal Diagnosis and Therapy
Luis A Izquierdo, Nicole Yonke
During early gestation, drugs have teratogenic effects and can be associated with structural anomalies in the fetus. Substance abuse can also have physiologic effects on the mother and fetus, including decreased uterine blood flow, increased vascular resistance, and an increase in fetal blood pressure. Women at increased risk for stillbirth should undergo antepartum fetal surveillance initiated at 32 weeks of gestation. Because of the high incidence of low birth weight, fetal anomalies, preterm delivery, and growth restriction in these patients, ultrasonography for appropriate pregnancy dating, a detailed anatomic survey, and cervical length should be performed at 20 weeks' gestation...
June 2014: Obstetrics and Gynecology Clinics of North America
(no author information available yet)
No abstract text is available yet for this article.
July 2014: Obstetrics and Gynecology
A Dhanya Mackeen, P Kaitlyn Edelson, Susan Wisch, Lauren Plante, Stuart Weiner
OBJECTIVE: This study aims to compare outcomes of antenatal testing in women who received testing between 40 weeks and 40+6 weeks versus those who received testing at ≥41 weeks. MATERIALS AND METHODS: This retrospective study included women without maternal comorbidities, who were referred for outpatient antenatal testing for gestational age ≥40 weeks. We compared women who received antenatal testing between 40 and 40+6 weeks (Group 1), to those who were only tested at ≥41 weeks (Group 2)...
March 2015: Journal of Perinatal Medicine
Uma M Reddy, Alfred Z Abuhamad, Deborah Levine, George R Saade
Given that practice variation exists in the frequency and performance of ultrasound and magnetic resonance imaging (MRI) in pregnancy, the Eunice Kennedy Shriver National Institute of Child Health and Human Development hosted a workshop to address indications for ultrasound and MRI in pregnancy, to discuss when and how often these studies should be performed, to consider recommendations for optimizing yield and cost effectiveness, and to identify research opportunities. This article is the executive summary of the workshop...
May 2014: Obstetrics and Gynecology
Diana G Wellesley, Anneke Lucassen
Prenatal array comparative genome hybridisation (aCGH) testing has by and large replaced routine karyotyping in many healthcare settings. While this will lead to more diagnoses, uncertain, unexpected or unhelpful findings are also likely to increase. This is the case for aCGH in any setting, but we discuss the particular challenges the prenatal setting generates and suggest areas that need further debate and discussion as well as some pragmatic ways forward.
July 2014: Archives of Disease in Childhood. Fetal and Neonatal Edition
Uma M Reddy, Grier P Page, George R Saade, Robert M Silver, Vanessa R Thorsten, Corette B Parker, Halit Pinar, Marian Willinger, Barbara J Stoll, Josefine Heim-Hall, Michael W Varner, Robert L Goldenberg, Radek Bukowski, Ronald J Wapner, Carolyn D Drews-Botsch, Barbara M O'Brien, Donald J Dudley, Brynn Levy
BACKGROUND: Genetic abnormalities have been associated with 6 to 13% of stillbirths, but the true prevalence may be higher. Unlike karyotype analysis, microarray analysis does not require live cells, and it detects small deletions and duplications called copy-number variants. METHODS: The Stillbirth Collaborative Research Network conducted a population-based study of stillbirth in five geographic catchment areas. Standardized postmortem examinations and karyotype analyses were performed...
December 6, 2012: New England Journal of Medicine
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