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) ...

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 ...

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: 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 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 ...

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 ...

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 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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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) ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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. ...

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 ...

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 ...

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 ...

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 ...

To obtain information on human pituitary intermediate lobe activity throughout the perinatal period, plasma alpha MSH immunoreactivity (IR) was measured in 106 newborns at delivery and during the first week of postnatal life. Subjects were divided into groups according to gestational age at birth, mode of parturition, and antenatal state ...

From 1978 to 1990, 263 fetuses with an elevated level of amniotic fluid alpha-fetoprotein (AF-AFP) (> 2.0 multiples of the median) were examined with targeted fetal sonography. All cases of AF-AFP elevation among 22,355 genetic amniocenteses were represented. Sonography correctly showed 32 open neural-tube defects, including 20 myelomeningoceles, and depicted ...

OBJECTIVE: To study the effect of periconceptional multivitamin supplementation on neural tube defects and other congenital abnormality entities. DESIGN: Randomised controlled trial of supplementation with multivitamins and trace elements. SETTING: Hungarian family planning programme. SUBJECTS: 4156 pregnancies with known outcome and 3713 infants evaluated in the eighth month of life. ...

OBJECTIVE: Unexplained elevations in maternal serum alpha-fetoprotein in the midtrimester are associated with adverse pregnancy outcome. Recently it has also been suggested that elevations of maternal serum human chorionic gonadotropin in the second trimester may be associated with adverse pregnancy outcome. STUDY DESIGN: We conducted a cohort study of 460 ...

The paralysis seen in children with myelomeningocele has been attributed to congenital myelodysplasia. Clinical and pathological data, however, suggest that the paralysis may be due in part to a spinal cord injury caused by exposure of the neural tube to the intrauterine environment. This possibility has been supported by experimental ...

Hydrops fetalis and fetal death caused by fetal parvovirus B19 infection have been reported to be associated with elevated maternal serum alpha-fetoprotein (AFP), based on a total of six cases. It has been suggested that the absence of AFP elevation may be reassuring. Maternal serum levels of the Down syndrome ...

BACKGROUND: Hepatocellular carcinoma is a rare complication of pregnancy. CASES: Three cases of pregnancy complicated by primary hepatocellular carcinoma were seen at our hospital in 3 years. Two were diagnosed antepartum and one postpartum. In one instance, the diagnosis came from finding elevated maternal serum alpha-fetoprotein (MSAFP) with normal amniotic ...

This is the first demonstration of alpha 2-pregnancy-associated glycoprotein (alpha 2-PAG) in the mink. Mink alpha 2-PAG exhibits complete immunological cross reaction with dog alpha 2-PAG when analysed in assays employing antisera against canine alpha 2-PAG raised in rabbits. Alpha 2-PAG was quantitated by rocket immunoelectrophoresis in heparin plasma samples ...

This study was conducted on high risk pregnancies, between 6-40 weeks of gestation, to evaluate the difference in maternal serum alphafetoprotein (MSAFP) levels in normal and abnormal pregnancies. It's predictive value for pregnancy outcome was calculated. Age and parity matched, normal pregnant women with normal pregnancy outcome were taken as ...

Second-trimester unconjugated oestriol (UE3) levels were measured retrospectively in maternal serum from 78 chromosomally abnormal pregnancies and 390 matched controls using a radioimmunoassay kit (Amersham AMERLEX-M) optimized for use in the second trimester. Reduced levels of UE3 were found in a group of 49 Down's syndrome pregnancies with a median ...

Given the discovery of intracranial changes observed in fetuses with open spina bifida, the wisdom of routinely performing amniocentesis on persons with unexplained maternal serum alpha-fetoprotein elevations is now being questioned. The detection rate for spina bifida with a targeted ultrasound examination is greater than 95%. Yet one must also ...

The statistical procedure for discriminating between a Down syndrome or neural tube defect (NTD) fetus and a normal fetus relies, to a great extent, on the reporting of maternal serum alpha-fetoprotein (MSAFP), hCG, and uE3 results in the form of multiples of the median (MoMs). Further, threshold MoMs values for ...

In a prospective study of screening of maternal serum levels of alpha-1-fetoprotein (MS AFP) and trofoblast-specific beta-1-glycoprotein (MS SP1) were examined in samples from pregnant women between the 16th and 18th week of pregnancy. We detected 8 fetuses with chromosomal aberation, 8 fetuses with neural tube defects and 10 fetuses ...