Abstract:
BACKGROUND:Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, have lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre- and posttest counseling, pre/perinatal decision making, and medical risk assessment/management. OBJECTIVE:The objective of this study was to determine the positive predictive value and false-positive rates for different chromosomal abnormalities identified by cell-free fetal DNA screening using a large data set of diagnostic testing results on invasive samples submitted to the laboratory for confirmatory studies. STUDY DESIGN:We tested 712 patient samples sent to our laboratory to confirm a cell-free fetal DNA screening result, indicating high risk for a chromosome abnormality. We compiled data from all cases in which the indication for confirmatory testing was a positive cell-free fetal DNA screen, including the common trisomies, sex chromosomal aneuploidies, microdeletion syndromes, and other large genome-wide copy number abnormalities. Testing modalities included fluorescence in situ hybridization, G-banded karyotype, and/or chromosomal microarray analysis performed on chorionic villus samples, amniotic fluid, or postnatally obtained blood samples. Positive predictive values and false-positive rates were calculated from tabulated data. RESULTS:The positive predictive values for trisomy 13, 18, and 21 were consistent with previous reports at 45%, 76%, and 84%, respectively. For the microdeletion syndrome regions, positive predictive values ranged from 0% for detection of Cri-du-Chat syndrome and Prader-Willi/Angelman syndrome to 14% for 1p36 deletion syndrome and 21% for 22q11.2 deletion syndrome. Detection of sex chromosomal aneuploidies had positive predictive values of 26% for monosomy X, 50% for 47,XXX, and 86% for 47,XXY. CONCLUSION:The positive predictive values for detection of common autosomal and sex chromosomal aneuploidies by cell-free fetal DNA screening were comparable with other studies. Identification of microdeletions was associated with lower positive predictive values and higher false-positive rates, likely because of the low prevalence of the individual targeted microdeletion syndromes in the general population. Although the obtained positive predictive values compare favorably with those seen in traditional screening approaches for common aneuploidies, they highlight the importance of educating clinicians and patients on the limitations of cell-free fetal DNA screening tests. Improvement of the cell-free fetal DNA screening technology and continued monitoring of its performance after introduction into clinical practice will be important to fully establish its clinical utility. Nonetheless, our data provide valuable information that may aid result interpretation, patient counseling, and clinical decision making/management.
journal_name
Am J Obstet Gynecoljournal_title
American journal of obstetrics and gynecologyauthors
Petersen AK,Cheung SW,Smith JL,Bi W,Ward PA,Peacock S,Braxton A,Van Den Veyver IB,Breman AMdoi
10.1016/j.ajog.2017.10.005subject
Has Abstractpub_date
2017-12-01 00:00:00pages
691.e1-691.e6issue
6eissn
0002-9378issn
1097-6868pii
S0002-9378(17)31187-0journal_volume
217pub_type
杂志文章abstract::This is the first case of a 65 year old healthy woman developing de novo mental confusion during treatment with 2 mg tolterodine twice daily. It is a rare complication of therapy for overactive bladder and resolved when dosage was reduced to 1 mg, although overactive bladder symptoms were still controlled. ...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/j.ajog.2007.04.051
更新日期:2007-08-01 00:00:00
abstract::Vasoactive intestinal polypeptide, a neuropeptide with wide distribution in the central and peripheral nervous system, has a broad spectrum of biologic actions. The demonstration of vasoactive intestinal polypeptide containing nerve fibers within the female and male genital tract 17 years ago indicated a putative role...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章,评审
doi:10.1016/0002-9378(95)90506-5
更新日期:1995-05-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to determine whether amniotic fluid levels of glial acidic fibrillary protein (GFAP) would reflect myelomeningocele-related neurodegeneration in the rat model of retinoic acid-induced myelomeningocele, which is a model that is very similar to human myelomeningocele and develops...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/j.ajog.2010.09.032
更新日期:2011-02-01 00:00:00
abstract::Congenital chylothorax is an uncommon condition, resulting from lymphatic accumulation in the fetal thorax; affected siblings are extremely rare. We report a woman who delivered 3 children with congenital chylothorax; each case was managed differently, including the use of ex utero intrapartum treatment (EXIT) with th...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/j.ajog.2004.09.012
更新日期:2005-06-01 00:00:00
abstract::Serum corticosteroid-binding globulin (CBG) concentrations in blood respond to endogenous or exogenous estrogens in a dose-response manner and serve as a biologic assay for estrogens. Because endometrial carcinoma is associated with unopposed or excessive estrogen stimulation, the CBG binding capacity of sera of patie...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/0002-9378(81)90480-4
更新日期:1981-03-15 00:00:00
abstract::The ovarian function of infertile women with normal menstrual rhythm was investigated by daily plasma hormone (estradiol, progesterone, luteinizing hormone, and follicle-stimulating hormone) analyses throughout the menstrual cycle, and patients were diagnosed as showing a subnormal profile of progesterone in the early...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/s0002-9378(88)80088-7
更新日期:1988-08-01 00:00:00
abstract:BACKGROUND:Cesarean scar defect (isthmocele) is a known complication after cesarean delivery. It has become more common due to a rising cesarean delivery rate. Isthmocele has been associated with various gynecological and obstetric problems such as uterine rupture, cesarean scar pregnancy, and bleeding disorders. OBJE...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/j.ajog.2018.09.004
更新日期:2018-11-01 00:00:00
abstract:OBJECTIVE:Postpartum infections are polymicrobial and typically include Ureaplasma, an intracellular microbe that is treated by macrolides such as azithromycin. The aim of this study was to evaluate the perinatal pharmacokinetics of azithromycin after a single preincision dose before cesarean delivery. STUDY DESIGN:Th...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ajog.2015.01.015
更新日期:2015-06-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to assess the role of cervical ultrasonography in the prediction of spontaneous preterm birth in triplet gestations and to compare various ultrasonographic cervical parameters with respect to predictive ability. STUDY DESIGN:This prospective cohort study included 51 triplet gestatio...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1067/mob.2000.108875
更新日期:2000-11-01 00:00:00
abstract:OBJECTIVE:The objective of the study was to assess whether implementation of a statewide initiative was associated with changes in perinatal human immunodeficiency virus (HIV) testing practices. STUDY DESIGN:This was an observational cohort study of all 1,141,799 women who delivered in Illinois birthing hospitals over...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/j.ajog.2012.08.006
更新日期:2012-11-01 00:00:00
abstract::A national sample of 1944 white menopausal women greater than or equal to 55 years old from the epidemiologic follow-up of participants in the National Health and Nutrition Examination Survey was reviewed to investigate the role of hormone therapy in altering the risk of death from cardiovascular disease. Women in the...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/s0002-9378(11)80006-2
更新日期:1991-02-01 00:00:00
abstract:OBJECTIVE:Absent end-diastolic blood flow in the umbilical artery identifies growth-restricted fetuses at high risk of perinatal mortality and severe morbidity. We explored antenatal variables predictive of perinatal mortality or severe neonatal morbidity in such fetuses. STUDY DESIGN:We accessed a cohort of 39 single...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/j.ajog.2005.07.032
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to determine whether quantification of cervicovaginal fluid fetal fibronectin (fFN) improves diagnostic accuracy of spontaneous preterm birth (sPTB) in symptomatic women. STUDY DESIGN:A prospective blinded predefined secondary analysis of a larger study of cervicovaginal fluid f...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/j.ajog.2012.10.890
更新日期:2013-02-01 00:00:00
abstract:OBJECTIVES:We aimed to analyze the predictive value of the fetal scalp blood lactate concentration and pH, especially in regard to outcome variables that are strong predictors of impaired long-term outcome. An additional aim was to establish cutoff lactate levels in fetal scalp blood. STUDY DESIGN:We conducted a retro...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/s0002-9378(99)70083-9
更新日期:1999-11-01 00:00:00
abstract:OBJECTIVE:Glycodelin is an endometrial protein proposed to play an important role in embryonic implantation. We examined the effects of progestins and relaxin on glycodelin transcription, synthesis, and secretion. STUDY DESIGN:Northern blotting, metabolic labeling, and fluorography were used to assess glycodelin messe...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/s0002-9378(00)70333-4
更新日期:2000-04-01 00:00:00
abstract:OBJECTIVE:Our goal was to determine whether there are racial differences in the severity of illness on admission for premature newborn infants independent of gestational age. STUDY DESIGN:The study population consisted of all African American and Caucasian singleton infants with gestational ages <34 weeks who were adm...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1067/mob.2001.109941
更新日期:2001-03-01 00:00:00
abstract::It has been suggested that continued diffusion gradients from mother to fetus would exist and that both meperidine and normeperidine would accumulate in the fetus following multiple doses of meperidine to the mother during labor. However, no pharmacokinetic data are available. Therefore, the purpose of this study was ...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/0002-9378(85)90314-x
更新日期:1985-02-01 00:00:00
abstract:OBJECTIVE:The objectives of the investigation were to study the association between levator hiatus dimensions in late pregnancy and both the length of second stage of labor and also the delivery mode in women delivering their first child. STUDY DESIGN:In this cohort study, 231 nulliparous women were examined with 3- a...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/j.ajog.2014.02.021
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVE:The aim of the study was to test the hypothesis that a combination of a previously devised morphologic scoring system and color flow-directed Doppler measurements would afford better discrimination between benign and malignant ovarian masses. STUDY DESIGN:The scoring system and color flow-directed Doppler me...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/s0002-9378(12)90843-1
更新日期:1993-03-01 00:00:00
abstract::Fifty-four pregnancies that were subsequently complicated by preeclampsia had platelet parameters and uric acid levels measured during pregnancy. The expected fall in platelet count and rise in platelet volume parameters and uric acid levels beyond those that occur in normal pregnancy were seen only in the week before...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/0002-9378(85)90555-1
更新日期:1985-08-15 00:00:00
abstract::In this study, we examined whether the doubling time of human chorionic gonadotropin is different at different stages of early pregnancy and whether the use of multiple nomograms for doubling time of human chorionic gonadotropin rather than a single critical value can improve the diagnosis of ectopic pregnancy. Forty-...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/s0002-9378(87)80349-6
更新日期:1987-07-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to determine the effect of discordant fetal growth on subsequent perinatal and neonatal outcome for different degrees of birth weight discordance in preterm twin gestations. STUDY DESIGN:One hundred twenty-two live born twin sets delivered between 25 and 34 completed weeks' gest...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/0002-9378(95)90027-6
更新日期:1995-03-01 00:00:00
abstract:BACKGROUND:It is not well-characterized whether attempting operative vaginal delivery is a safe and effective alternative among women who undergo a trial of labor after cesarean delivery who are unable to complete second-stage labor with a spontaneous vaginal delivery. OBJECTIVE:The purpose of this study was to compar...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/j.ajog.2017.01.013
更新日期:2017-04-01 00:00:00
abstract:OBJECTIVE:This study was undertaken to evaluate whether it was possible to abstain from performing an endometrial biopsy when endometrial thickness according to transvaginal ultrasonography was =4 mm in women with postmenopausal bleeding or irregular bleeding during hormone replacement therapy. STUDY DESIGN:Transvag...
journal_title:American journal of obstetrics and gynecology
pub_type: 临床试验,杂志文章
doi:10.1067/mob.2000.103092
更新日期:2000-03-01 00:00:00
abstract:OBJECTIVE:Nitric oxide deficiency has been implicated in adverse pregnancy outcomes. Mice that lack endothelial nitric oxide synthase (NOS3) have abnormal in vitro vascular reactivity. Our objective was to assess the effect of a previous pregnancy on the abnormal vascular function of NOS3 knockout mice. STUDY DESIGN:C...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/j.ajog.2007.06.062
更新日期:2007-09-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to determine the effectiveness of postpartum dexamethasone in patients with hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome. STUDY DESIGN:A prospective, randomized, double-blind trial was conducted in which 105 women with HELLP syndrome were enrolled and as...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ajog.2007.10.797
更新日期:2008-03-01 00:00:00
abstract:BACKGROUND:There is a marked increase in the use of selective serotonin reuptake inhibitors and serotonin norepinephrine reuptake inhibitors in the last decade. Many newborns are likely to be exposed during pregnancy and labor. OBJECTIVE:We aimed to evaluate the association between exposure to selective serotonin reup...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章,meta分析
doi:10.1016/j.ajog.2018.08.030
更新日期:2019-01-01 00:00:00
abstract::The mechanical properties of the chorioamniotic membranes have been studied by several investigators over the past 100 years. No relationship between membrane strength, as measured by rupture tension, and premature or non-premature rupture of the membranes has been demonstrable. In the present study, several measures ...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/0002-9378(76)90788-2
更新日期:1976-07-01 00:00:00
abstract::Chromosomal microarray analysis is a high-resolution, whole-genome technique used to identify chromosomal abnormalities, including those detected by conventional cytogenetic techniques, as well as small submicroscopic deletions and duplications referred to as copy number variants. Because chromosomal microarray analys...
journal_title:American journal of obstetrics and gynecology
pub_type: 杂志文章
doi:10.1016/j.ajog.2016.07.016
更新日期:2016-10-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to investigate the effect of plasma volume expansion on the pulsatility indices of the fetal umbilical and middle cerebral arteries. STUDY DESIGN:Two hundred sixteen patients with severe preeclampsia, HELLP (hemolysis, elevated liver enzymes, and low platelet count) syndrome, ec...
journal_title:American journal of obstetrics and gynecology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/j.ajog.2004.06.061
更新日期:2005-01-01 00:00:00