Abstract：
OBJECTIVE:The objective of the study was to report experience with prenatal molecular diagnosis of tuberous sclerosis complex (TSC). STUDY DESIGN:Sequential deoxyribonucleic acid (DNA) studies were performed on amniotic fluid cells and chorionic villi from 50 pregnant women at risk for having a child with TSC. Mutations were determined by gene sequencing and deletion/duplication analysis of the 2 TSC genes. RESULTS:DNA analysis was successful in 48 of 50 tested fetuses. Mutations were precisely identified in a family member (24) (TSC1 [5]; TSC2 [19]) and/or fetus (11) (TSC1 [3]; TSC2 [8]). Novel mutations were found in 19 individual families, and a probable polymorphism was noted in 4. Second-trimester ultrasound detected 18 fetuses with cardiac rhabdomyomas. There was insufficient DNA in 1, whereas 8 of 17 (47%) had a mutation, 6 (75%) being in TSC2. In 4 of 18 cases, a mutation was detected in the fetus for the first time despite a parent known to have TSC. CONCLUSION:The value and utility of prenatal diagnosis of TSC by DNA analysis was demonstrated by the results in this series of 50 pregnancies in women at risk of having affected offspring. A family history of TSC or detection of fetal cardiac rhabdomyoma should prompt genetic evaluation and counseling of parents and the option of prenatal diagnosis.
journal_name
Am J Obstet Gynecoljournal_title
American journal of obstetrics and gynecologyauthors
Milunsky A,Ito M,Maher TA,Flynn M,Milunsky JMdoi
10.1016/j.ajog.2008.11.004subject
Has Abstractpub_date
2009-03-01 00:00:00pages
321.e1-6issue
3eissn
0002-9378issn
1097-6868pii
S0002-9378(08)02204-7journal_volume
200pub_type
杂志文章abstract：:Botulinum toxin A is the newest therapy for the treatment of a variety of medical disorders caused by abnormalities of muscle activity. After successful use in other medical subspecialties, the newest applications of this potent neurotoxin are within the lower urinary tract. The toxin has evolved from a cause of fatal...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章,评审
doi：10.1016/j.ajog.2006.03.108
更新日期：2007-01-01 00:00:00
abstract：:The adenosine-3',5'-monophosphate (cAMP) level in human amnion has been measured in vitro during short-term incubations, with or without prostaglandin E1 (PGE1) or isoproterenol. Concentration-response and kinetic curves were obtained. Isoproterenol and PGE1 stimulated cAMP production by amnion in a time-dependent man...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/s0002-9378(16)32592-3
更新日期：1981-09-15 00:00:00
abstract：:We previously reported a significant relationship between the hematocrit levels of anemic fetuses and information derived from ultrasonographic and Doppler flow-velocity waveforms. In this study we prospectively tested two formulas for the prediction of hematocrit values, by use of gestational age, presence or absence...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/0002-9378(89)90516-4
更新日期：1989-08-01 00:00:00
abstract：OBJECTIVE:Recent randomized trials comparing total laparoscopic hysterectomy (TLH) and vaginal hysterectomy (VH) have produced conflicting results. The role of TLH in women suitable for VH remains uncertain. STUDY DESIGN:This study was a metaanalysis of randomized studies comparing TLH and VH for benign disease. Poole...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章,meta分析
doi：10.1016/j.ajog.2010.12.059
更新日期：2011-05-01 00:00:00
abstract：OBJECTIVE:Closure of a low transverse cesarean incision with one layer of suture results in less operating time, better hemostasis, and less infectious morbidity than a two-layer closure. STUDY DESIGN:At our institution 906 women were randomized to closure of a low transverse cesarean incision with either one continuo...
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/s0002-9378(12)80048-2
更新日期：1992-10-01 00:00:00
abstract：OBJECTIVES:Our goal was to determine the degree of shunting through the ductus venosus in the human fetus and its possible association with fetal growth. STUDY DESIGN:Blood flow in the umbilical vein and the fetal ductus venosus was measured in 197 low-risk pregnancies in a cross-sectional ultrasonographic study at a ...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/s0002-9378(00)70504-7
更新日期：2000-01-01 00:00:00
abstract：OBJECTIVE:We undertook this investigation to explore the effects of ethanol exposure on nitric oxide synthase levels and nitric oxide release. Our hypothesis was that ethanol exposure modifies nitric oxide activity within the placenta as a result of oxidative stress. STUDY DESIGN:Four 10-g samples of term normal human...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1067/mob.2000.104201
更新日期：2000-03-01 00:00:00
abstract：:A cryoprobe that will produce coagulation necrosis and subsequent scar formation of the cornual areas of the uterus has been tested. A discussion is made of the developmental program, including the design of the instrument, efficacy and safety testing in baboons, and preliminary investigations of the safety of this pr...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/0002-9378(78)90466-0
更新日期：1978-05-01 00:00:00
abstract：OBJECTIVES:The purpose of this study was to examine neurokinin B levels in serum from preeclamptic and normotensive and to investigate the role of neurokinin B in preeclampsia. STUDY DESIGN:Peripheral and uterine venous blood neurokinin B levels were measured in 14 normotensive and 8 preeclamptic pregnant women by rad...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1067/s0002-9378(03)00775-0
更新日期：2003-11-01 00:00:00
abstract：:Postpartum ultrasonographic examination of a patient with a retained placenta showed findings consistent with placenta accreta. The diagnosis was confirmed after surgery with histopathologic examination of the uterus. This case illustrates the possible clinical application of ultrasonography in the postpartum diagnosi...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/s0002-9378(11)91557-9
更新日期：1992-09-01 00:00:00
abstract：:The cellular localization of angiotensin II immunoreactivity and the presence of angiotensin II binding in rat ovaries were studied. Angiotensin II immunohistochemical staining was demonstrated throughout the corpora lutea of gonadotropin-stimulated immature rats and pseudopregnant adult rats, as well as in some strom...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/s0002-9378(88)80122-4
更新日期：1988-08-01 00:00:00
abstract：:The Rape Treatment Center at Jackson Memorial Hospital, Miami, Florida, has cared for more than 5,000 victims of sexual assault since January, 1974. Forcible rape is a violent crime, and it is now generally accepted that rapists are sexual deviants. Few of the victims have serious physical injuries, but they all suffe...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/s0002-9378(16)32834-4
更新日期：1980-08-15 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：:Progeny of women, whose thyroid function was studied gestationally, had psychological and/or neurologic examinations at 8 months, 4 years and 7 years of age. In more than 100 pregnancies (at least 3 per cent of total pregnancies) hypothyroxinemia occurred and was treated adequately or inadequately. Children were deliv...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：
更新日期：1976-08-01 00:00:00
abstract：:A critical review of selected studies of breech delivery is presented with special attention to the statistical analysis of outcome for low birth weight and term breech delivery. Analysis of the data fails to support the routine use of cesarean birth for all cases of breech delivery except for those with hyperextensio...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/0002-9378(87)90193-1
更新日期：1987-01-01 00:00:00
abstract：OBJECTIVES:The current study was designed to elucidate risk factors associated with the development of cervical cancer during the course of routine Papanicolaou smear screening (rapid-onset cervical cancer). STUDY DESIGN:Four hundred eighty-three women diagnosed with invasive cervical cancer, representing 73% of all s...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/s0002-9378(99)70256-5
更新日期：1999-03-01 00:00:00
abstract：:The effect of maternal ingestion of ethanol (0.25 gm/kg) on fetal breathing movements, gross fetal body movements, and fetal heart rate was studied in 11 healthy pregnant women at 37 to 40 weeks' gestation. Fetal breathing movements were almost abolished within 30 minutes of the alcoholic drink and remained significan...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/0002-9378(83)90501-x
更新日期：1983-01-15 00:00:00
abstract：:We provide a justification for preventive ethics in obstetric practice. Four clinical guides to resolving ethical conflicts between pregnant women and their physicians can be identified: (1) informed consent as an ongoing dialogue between the pregnant woman and her physician, (2) negotiation as a clinical strategy, (3...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/0002-9378(90)90374-g
更新日期：1990-02-01 00:00:00
abstract：OBJECTIVE:We sought to describe placental findings in asphyxiated term newborns meeting therapeutic hypothermia criteria and to assess whether histopathologic correlation exists between these placental lesions and the severity of later brain injury. STUDY DESIGN:We conducted a prospective cohort study of the placentas...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/j.ajog.2010.08.024
更新日期：2010-12-01 00:00:00
abstract：BACKGROUND:Alterations in circulating angiogenic factors are associated with the diagnosis of preeclampsia and correlate with adverse perinatal outcomes during the third trimester. OBJECTIVE:Analysis of the sequential levels of plasma angiogenic factors among patients admitted for evaluation of preeclampsia. STUDY DE...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/j.ajog.2016.01.168
更新日期：2016-07-01 00:00:00
abstract：OBJECTIVE:Accurate prediction of whether a nulliparous woman will have a vaginal delivery would be a major advance in obstetrics. The objective of the study was to develop such a model based on maternal characteristics and the results of intrapartum ultrasound. STUDY DESIGN:One hundred twenty-two nulliparous women in ...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/j.ajog.2015.05.044
更新日期：2015-09-01 00:00:00
abstract：:The Amniostat-FLM rapid slide test (Hana Biologics, Inc., Alameda, Calif.) for detection of phosphatidylglycerol has previously been evaluated and has shown good correlation with the more sophisticated two-dimensional thin-layer chromatographic method. A new, ultrasensitive kit has now been released with a lower level...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/0002-9378(89)90429-8
更新日期：1989-02-01 00:00:00
abstract：:Virilization in pregnancy has been reported with various ovarian neoplasms. Presented is a case of maternal virilization resulting from an unclassified sex-cord stromal neoplasm. ...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/0002-9378(85)90627-1
更新日期：1985-07-01 00:00:00
abstract：OBJECTIVE:Improvement in endothelial function may be an important mechanism by which estrogen replacement therapy protects postmenopausal women against coronary artery disease. We determined whether the vascular effects of estradiol depend on the route of administration. STUDY DESIGN:Six weeks after surgically induced...
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：10.1067/mob.2003.326
更新日期：2003-05-01 00:00:00
abstract：:In Finland an organized mass screening program covers the total female population. Based on the material (429,832) from a nationwide mass screening registry it was estimated that the female population not subjected to electrocoagulation of the uterine cervix (362,511) had a sixfold risk of frankly invasive carcinoma, ...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/0002-9378(78)90115-1
更新日期：1978-07-01 00:00:00
abstract：OBJECTIVE:Patients with preeclampsia (PE) have endothelial dysfunction and an increased future risk of cardiovascular (CV) mortality. The number of circulating endothelial cells (CECs) is markedly increased in conditions associated with a high degree of endothelial cell activation/injury including PE. We hypothesized t...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/j.ajog.2015.06.043
更新日期：2015-10-01 00:00:00
abstract：OBJECTIVE:Permanent congenital brachial plexus palsy is a recognized serious complication associated with shoulder dystocia. The timing and etiology of this injury remains controversial. Previous authorities have used adult-derived, non-brachial plexus data to extrapolate the anticipated timing for electromyographic de...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/s0002-9378(98)70478-8
更新日期：1998-04-01 00:00:00
abstract：OBJECTIVE:The purpose of this study was to determine stillbirth risk factors and gestational age at delivery in a prospective developing country birth cohort. STUDY DESIGN:At 20-26 weeks of gestation, 1369 Pakistani women were prospectively enrolled in the study; the gestational age was determined by ultrasound evalua...
journal_title：American journal of obstetrics and gynecology
pub_type： 临床试验,杂志文章
doi：10.1016/j.ajog.2007.07.012
更新日期：2007-09-01 00:00:00
abstract：:Fetal outcome in 98 patients with spontaneous antepartum late decelerations was studied by combining the data of two obstetric departments. Heart rate variability was used to classify the different patterns into two categories: terminal and decelerative. In 14 of the 47 pregnancies in which a terminal pattern was foun...
journal_title：American journal of obstetrics and gynecology
pub_type： 杂志文章
doi：10.1016/0002-9378(80)90141-6
更新日期：1980-10-15 00:00:00
abstract：OBJECTIVE:Before the availability of modern imaging studies the diagnosis of septic pelvic thrombophlebitis causing prolonged puerperal fever was difficult to confirm without surgical exploration. With the use of computed tomography infection-related pelvic phlebitis can now be confirmed, and this study was designed to...
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/s0002-9378(99)70450-3
更新日期：1999-07-01 00:00:00
