Prenatal diagnosis of dystrophic epidermolysis bullosa (DEB) has been achieved in the past by fetal skin sampling. However, this invasive procedure is associated with a relatively high rate of pregnancy loss. We present a consanguineous Arab family ascertained by 2 affected offspring to be at risk for DEB. In a ...

The nature of the 39 kDa pertussis toxin substrate previously detected in human pregnant myometrium was investigated. Comparison of membranes from non-pregnant and from 39-40 week pregnant myometrium revealed a higher level at 39 kDa of pertussis toxin ADP-ribosylation and Go alpha immunoreactivity in late pregnancy. Furthermore, quantification of both ...

Maternal serum alpha-fetoprotein (MSAFP) screening has been widely used and proven valuable in the prediction of a variety of fetal disorders. Any laboratory intending to provide MSAFP screening needs to establish its own reference data. In order to establish a normal MSAFP median value at our own laboratory, 5256 samples ...

OBJECTIVES: The purpose of this study was to evaluate the accuracy of prenatal ultrasonography in detecting congenital anomalies. STUDY DESIGN: We studied all singleton births or fetal deaths with one or more congenital defects delivered during the study period who had had one or more ultrasonographic examinations performed at or ...

To conduct a number of studies into the prevalence of neural tube defects (NTD) in the area covered by the Oxford Record Linkage Study (ORLS), multiple sources were used to build a local register of cases occurring in Oxfordshire and West Berkshire between 1968-1990. One source of potential cases--namely, termination ...

OBJECTIVE: To determine if unexplained low second-trimester maternal serum human chorionic gonadotropin (MShCG) is a useful predictor of complications of pregnancy. STUDY DESIGN: Between 2/1/90 and 1/3/91, 3,116 patients underwent prenatal screening using second-trimester maternal serum alpha-fetoprotein (MSAFP), MShCG and maternal serum unconjugated estriol (MSuE3). Among these, there were 160 ...

OBJECTIVE: To determine if second-trimester maternal serum concentrations of unconjugated estriol (E3) and hCG are altered in pregnancies associated with fetal gastroschisis or omphalocele. METHODS: Concentrations of alpha-fetoprotein (AFP), unconjugated E3, and hCG were measured in a case-control study involving 23 cases of gastroschisis, 17 cases of omphalocele, and 200 ...

The hypothesis was examined that altered maternal zinc metabolism is involved in the low birthweight associated with raised maternal serum alpha-fetoprotein (MSAFP). Mothers with clinically normal pregnancy and normally formed infant but with raised MSAFP (> 90th percentile) had lower than normal plasma zinc concentration, raised leucocyte zinc and disturbed ...

OBJECTIVE: Our purpose was to assess the family planning decisions made by women found to be carrying fetuses with chromosome abnormalities or neural tube defects. STUDY DESIGN: We studied the family planning decisions of 132 women carrying fetuses with chromosome abnormalities (n = 91) or neural tube defects (n = ...

OBJECTIVE: Our purpose was to determine whether obstetric patients with unexplained elevated maternal serum alpha-fetoprotein levels from an indigent clinic population are at increased risk for adverse perinatal outcome compared with similar patients with normal values. STUDY DESIGN: Perinatal outcomes from inner-city obstetric patients with unexplained elevated maternal serum alpha-fetoprotein ...

OBJECTIVE: Our purpose was to determine whether abnormal pregnancy outcome is associated with elevated maternal serum human chorionic gonadotropin levels. STUDY DESIGN: Maternal serum alpha-fetoprotein and human chorionic gonadotropin levels were measured in stored second-trimester serum obtained before scheduled genetic amniocentesis from 126 women with poor pregnancy outcomes, excluding aneuploidy ...

This study examines the effects of various localized, nondissemination challenges of Porphyromonas gingivalis on inflammatory mediator production and pregnancy outcome in the golden hamster. Live or heat-killed (HK) organisms were inoculated into a previously implanted subcutaneous tissue chamber on the 8th day of gestation to determine the effects on fetal ...

We evaluated first-trimester maternal serum alpha-fetoprotein (MS-AFP) as a marker for fetal chromosomal disorders. The multicentre study was performed under the auspices of the Dutch Working Party on Prenatal Diagnosis. MS-AFP was measured in 2404 normal pregnancies and 72 chromosomally abnormal pregnancies. The median multiple of the normal median (MOM) ...

BACKGROUND: A rare malignant germ cell tumor of the ovary during pregnancy was detected by screening of maternal serum alpha-fetoprotein (MSAFP). Treatment of this uncommon tumor during pregnancy incorporated combination chemotherapy including etoposide. CASE: An 18-year-old primiparous woman undergoing antenatal genetic screening was found to have an extremely elevated MSAFP ...

We have investigated various micronutrients important to folate metabolism in women with two previous neural tube defect (NTD)-affected pregnancies. Results suggest the disposition of plasma 5-methyltetrahydrofolate (5CH3-H4PteGlu) with respect to dietary intake may differ from that of the control population. It appears that to achieve a given plasma level of ...

We report a case of hemoperitoneum in the second trimester due to placenta percreta which was associated with an elevated maternal serum alpha-fetoprotein. A 29-year-old woman, gravida 4, para 1-0-2-1, was seen at 17 weeks' gestation with an acute abdomen. Maternal serum alpha-fetoprotein in a sample drawn 1 week previously ...

OBJECTIVE: Unexplained maternal serum alpha-fetoprotein elevation has been associated with an increased risk of intrauterine growth retardation, preterm delivery, and intrauterine fetal death. The purpose of this study was to determine whether patients with evidence of recent fetomaternal bleeding as a cause of elevated maternal serum alpha-fetoprotein level are at ...

OBJECTIVE: To make recommendations on nutritional interventions and screening manoeuvres to prevent the birth of infants with neural tube defects (NTDs). OPTIONS: Folic acid consumption through diet or supplementation in women at low risk and at high risk of having a fetus with an NTD, and maternal serum alpha-fetoprotein (MSAFP) ...

The aim of this study was to determine whether identification of glial cells in amniotic fluid samples could form a useful supplementary test in the antenatal diagnosis of neural tube defects (NTDs). In a 5-year study, 1452 samples of middle trimester amniotic fluid were examined blind to the results of ...

We examined parental decision concerning pregnancy management in women having fetuses with neural tube defects (NTDs) to determine whether severity of defect or method of detection has an impact on the decision making process. Analysis of decisions by 50 women, whose pregnancies were affected by an isolated neural tube defect ...

To evaluate alpha-fetoprotein (AFP) levels in women during pregnancy and in the neonate, 256 singleton pregnancies without medical, gynecologic, obstetric, or neonatal complications were studied. Sera for measuring maternal AFP (MAFP) levels were taken in midtrimester (16 to 18 weeks), third trimester (32 to 34 weeks), and during intrapartum (38 ...

We report a newborn with isolated aplasia cutis congenita of the scalp whose mother was treated with valproic acid during pregnancy. Aplasia cutis congenita has been described in infants exposed in utero to antithyroid drugs, but has not been related to other tetratogenic agents. Fetal exposure to valproic acid is ...

OBJECTIVE: To report an association between fetal oculocerebrorenal syndrome of Lowe and elevations in maternal serum alpha-fetoprotein (MSAFP) and amniotic fluid alpha-fetoprotein (AFAFP). METHODS: Case 1 was identified during routine MSAFP screening. Cases 2-5 were identified through review of a data base of individuals with oculocerebrorenal syndrome enrolled at the ...

Clinical and epidemiological studies indicate that maternal use of valproic acid (VPA) during pregnancy causes an increased risk for spina bifida in the fetus. A proportion of infants exposed to VPA in utero exhibit a characteristic pattern of facial malformations. Despite the developmental interdependence of the neural plate and paraxial ...

The levels of the maternal serum markers alpha-fetoprotein (AFP), human chorionic gonadotrophin (hCG), and unconjugated oestriol (uE3) in 35 pregnant women with early second-trimester oligohydramnios differed from those in a reference population of 1699 singleton pregnancies. Maternal serum AFP levels above the 95th centile of the population distribution were observed ...

An association between various abnormal mid-trimester maternal serum analyte values and adverse perinatal outcome has been reported. From an original sample of 14,857 women, we observed five women who were 'screen-positive' for both neural tube defects [maternal serum alpha-fetoprotein (MSAFP) > or = 2.5 multiples of the median] and Down ...

To assess the relationship between alpha-fetoprotein (AFP) concentrations of amniotic fluid and maternal serum from 16 to 18 weeks' gestation, 890 paired samples of maternal serum and amniotic fluid were collected from women with normal singleton pregnancies. The gestational age was determined by ultrasonographic dating before amniocentesis, and the AFP ...

BACKGROUND: Screening for Down syndrome using maternal serum alpha-fetoprotein (MSAFP) and hCG, with or without unconjugated estriol (E3), has become standard practice in much of the United States. When both MSAFP and hCG are elevated, the possibility of a partial molar pregnancy with fetal neural tube or abdominal-wall defect should ...

Pregnant women demonstrating an elevated maternal serum alpha-fetoprotein level are at increased risk for fetal neural tube defect or other anomaly. Diagnostic procedures to evaluate these pregnancies include high-resolution ultrasound and amniocentesis to measure amniotic fluid levels of alpha-fetoprotein and N-acetylcholinesterase. We wished to examine the efficacy of detailed ultrasound ...

In 1991 we reported a cluster of babies with limb abnormalities and suggested that chorionic villus sampling (CVS) was aetiologically associated with these defects. To address the issue more objectively, we have assessed reported limb reduction defects in 75 babies exposed to CVS in utero. 13 babies had an absent ...

Neural tube defects such as spina bifida and anencephaly affect about 2000 pregnancies in the UK each year, and 1600 of these end in termination or stillbirth. To help prevent these defects women are advised to take supplements of folic acid around the time of conception and in the early ...

Simpson-Golabi-Behmel (SGB) syndrome is an X-linked condition with pre- and postnatal overgrowth, characteristic facies, and visceral and skeletal anomalies. We report an affected male who presented at 16 weeks' gestation with elevated maternal serum alpha-fetoprotein (MSAFP). Fetal measurements at 20 and 31 weeks' gestation were disproportionate, with marked macrosomia but ...

OBJECTIVE: To determine whether unexplained elevations of maternal serum alpha-fetoprotein (MSAFP) in women with antiphospholipid antibodies are associated with adverse pregnancy outcomes. METHODS: A retrospective cohort study was used to compare pregnancy outcomes between women with second-trimester MSAFP values equal to or greater than 2.5 multiples of the median (MoM) ...

Pregnancy occurred in a woman who had undergone hepatic, cerebral and myocardial resection of epithelioid hemangioendotheliomas (EHEs). The overall course of her pregnancy did not seem to be affected by the prior EHEs, though the pregnancy was complicated by preterm delivery. The patient was observed to have elevated maternal serum ...

Exposure to antiepileptic drug (AED) treatment in utero occurs in 1 of every 250 newborns. The absolute risk of major malformations in these infants is about 7-10%, approximately 3-5% higher than in the general population. Specific risk factors include high maternal daily dosage or serum concentrations of AED, low folate ...

With enzyme immunoassay, maternal serum chorionic gonadotropin (MShCG) level was determined in 58 pregnancies affected with fetal homozygous alpha-thalassemia 1. In 40 pregnancies with a gestational age of 10 to 14 weeks, 8 (20%) had an MShCG level above 2.5 multiples of the median (MoM); while in the other 18 ...

OBJECTIVE: The objective of this study was to identify the parental origin of the extra haploid set of chromosomes in triploid pregnancies and to correlate the parental origin to very low levels of human chorionic gonadotropin and unconjugated estriol levels (multiple of the median < or = 0.20) and normal ...

The birth prevalence of neural tube defects fell by 95% in England and Wales between 1970 and 1990 largely as a result of antenatal screening, subsequent diagnosis and selective abortion of affected pregnancies. Anencephaly can be diagnosed using ultrasound, whereas both amniotic fluid biochemistry and ultrasound are required for the ...

The risk for birth defects in the offspring of first cousin parents is substantially higher than in the offspring of non-consanguineous parents. As a general decline in the frequency of consanguineous marriages was observed in this century, one wonders whether consanguinity is still a factor in the appearance of birth ...

Of 2882 women allocated to either transabdominal CVS (TA) or transcervical CVS (TC) at two large obstetric centres in Denmark, 2707 had blood samples drawn before and 30 min after CVS for maternal serum-alpha-fetoprotein (MSAFP) measurement. 2535 of these women had cytogenetically normal pregnancies and 2091 of them went on ...

OBJECTIVE: Our investigation was designed to use maternal serum alpha-fetoprotein and individual or combinations of ultrasonographic parameters to examine the influence of fetal gender on the prediction of Down syndrome. STUDY DESIGN: A cohort study of 5114 patients who underwent karyotype analysis between 13 and 22 weeks' gestation was undertaken. ...

As part of the Medical Research Council randomized trial of vitamin supplementation in the prevention of neural tube defects (NTDs), maternal serum alpha-fetoprotein (AFP) was available for 19 NTD pregnancies. Each of these was matched with four unaffected controls, by maternal age, participating centre, and duration of sample storage. The ...

PURPOSE: To determine fetal outcomes and the capability of sonography to help predict these outcomes in patients with maternal serum alpha-fetoprotein (MSAFP) levels of 5.0 multiples of the median or greater. MATERIALS AND METHODS: Real-time sonography was performed in patients with singleton and multiple gestations. After sonography, the pregnancy was ...

BACKGROUND: Analyses of the frequency of congenital anomalies among infants born to women who used carbamazepine during organogenesis have not yielded consistent results. Because the drug is used to treat epilepsy, any association is confounded by the underlying condition. CASE: A nonepileptic 44-year-old multigravid woman attempted suicide by ingesting 24 ...

OBJECTIVE: Our purpose was to determine the effect of first-trimester multifetal pregnancy reduction on maternal serum alpha-fetoprotein and coagulation profiles in the second trimester. METHODS: Maternal serum alpha-fetoprotein was determined in 57 patients 1.5 to 10 weeks after multifetal pregnancy reduction, and coagulation profile was determined in 17 patients 2 ...

Stillbirths and spontaneous abortuses have higher rates of birth defects than liveborn infants. The relationship between a woman's previous pregnancy loss and the risk of birth defects in the offspring has not been adequately examined, however. Using data from a population-based case-control study, we assessed whether one or more previous ...

The sonographic diagnosis of fetal neural tube defects (NTDs) has been enhanced by the recognition of associated brain and skull anomalies. Previous reports have found these anomalies to be accurate in predicting spina bifida after 16 weeks' gestation, and an inverse correlation was suggested between the presence of these sonographic ...

We report on the prenatal diagnosis of epidermolysis bullosa letalis with pyloric atresia in a pregnancy not known to be at risk for this condition. Elevated maternal serum alpha-fetoprotein levels led to ultrasonography which demonstrated gastric dilatation, consistent with pyloric atresia, and echogenic particles in the amniotic fluid, the "snowflake ...

OBJECTIVE: To investigate the relationship of zinc in the causation of neural tube defects and so explore the possible role as a cause of these defects. DESIGN: Stored serum samples collected as part of the Medical Research Council's multicentre randomised trial section of vitamin supplementation in the prevention of neural ...

Alpha-fetoprotein (AFP), unconjugated oestriol (UE3), intact human chorionic gonadotrophin (intHCG), and the free beta subunit of chorionic gonadotrophin (F beta HCG) were investigated in a series of 21 chromosomally abnormal and 14 open neural tube defect pregnancies ascertained from a series of 14,000 prospectively collected maternal serum samples at 6-14 ...