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At least 19 recordsLinked to original sources

PubMed1987

[Sexual differentiation of social play and copulatory behavior in prenatally stressed male and female offspring of the rat: the influence of simultaneous treatment by tyrosine during exposure to prenatal stress].

The environmental stress in the late gestational life has been reported to induce impairments of androgen-dependent sex differentiation of the rat brain. This study was performed to investigate the effects of prenatal stress on the features of gender role behavior and copulatory behavior which are masculinized by perinatal androgens. Further, a possible counteraction of tyrosine to the long-term effects of prenatal stress was examined, because the supplementation of amino-acid precursor of catecholamines during the stress is known to maintain the content of catecholamines in the brain, which is considered to contribute to the differentiation of the brain. Time-mated pregnant females were subjected to the forced immobilization stress daily from day 15 of pregnancy to the day of delivery, and they received simultaneous i.p. injections of either tyrosine methylester HCl (200 mg/kg) or saline, less than 60 minutes before stress. Social play in the peripubescent period was observed in the male and female offspring. After maturation, they were castrated and male copulatory behavior under androgen-substitution was tested in the male offspring, and female copulatory behavior under estrogen-substitution was tested in the female offspring. In the male offspring, prenatal stress caused a significant depletion of social play as well as male copulatory behavior, showing the demasculinization of gender role centers and mating centers. In the female offspring exposed to the prenatal stress, a significant increase of social play was observed. And their lordosis quotient did not alter, but a reduced attractivity against male partner was found. These results in the female offspring suggest some extent of masculinization occurred in both centers, probably due to the increase of androgens derived from the adrenal glands when stressed. Tyrosine seemed to reduce the engagement of social play in both sexes, independently of the prenatal stress. On the other hand, tyrosine prevented, at least partially, the long-term effects of prenatal stress in copulatory behavior which were observed in this study. Tyrosine itself had no effect on copulatory behavior. The apparent counteraction of tyrosine in copulatory behavior suggests a positive involvement of catecholamines, especially norepinephrine, in the process of masculinization of the mating centers. The different action of tyrosine to these behaviors may reflect the fact that the different regions of the brain and separate mechanisms are responsible for the sexual differentiation of social play and copulatory behavior.

Animals↗

PubMed2026

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta-analysis.

INTRODUCTION: Fetal central nervous system (CNS) abnormalities have diverse etiologies, with genetic factors as a major contributor. Prenatal exome sequencing (ES) is a powerful tool for precise molecular diagnosis of CNS anomalies, but its diagnostic yield varies among studies. This study aimed to evaluate the additional diagnostic yield of prenatal ES compared with chromosomal microarray analysis (CMA) in fetuses with CNS anomalies detected by prenatal imaging. MATERIAL AND METHODS: We collected ES results from fetuses diagnosed with CNS anomalies by prenatal imaging (2019-2024) who had negative results. Subgroup analyses assessed phenotype-specific ES diagnostic yield for associated genes and variants. A systematic review and meta-analysis incorporating our data and published studies further explored the association between phenotype and diagnostic yield. RESULTS: In the cohort study of 219 cases, ES identified pathogenic/likely pathogenic single nucleotide variations in 36 cases (16%). The highest diagnostic yield of ES was in cases with multisystem malformations (25%, 14/55), followed by multiple CNS anomalies (15%, 2/13) and isolated CNS anomalies (13%, 20/151). The most commonly identified isolated CNS anomaly was agenesis of the corpus callosum (31%, 5/16). Neural tube defects with urogenital anomalies were associated with a positive ES finding in 57% (4/7) of cases. The meta-analysis of 989 cases from 22 studies showed a pooled diagnostic yield of ES of 27% (95% CI, 21%-34%). The highest diagnostic yield of ES was in cases of corpus callosum anomalies with facial abnormalities (75%, 8/11) and neural tube defects with urogenital malformations (80%, 12/15). The diagnostic yield of ES for three or more CNS abnormalities was 43% (95% CI, 31%-58%), significantly higher than that for only two abnormalities (10%, 95% CI, 4%-18%). No significant difference in diagnostic yield was found between cases identified by prenatal MRI combined with ultrasound (27%, 95% CI, 20%-36%) and those identified by ultrasound alone (25%, 95% CI, 17%-35%). CONCLUSIONS: ES provided a significantly higher diagnostic yield than CMA for fetal CNS abnormalities, with diagnostic yields varying by phenotype. The systematic review and meta-analysis confirmed that the complexity and combination of malformations are key factors associated with differences in ES diagnostic yield.

Humans↗

PubMed2025

Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases.

BACKGROUND: Non-invasive prenatal testing is widely used for screening common fetal aneuploidy disorders such as trisomy 21, trisomy 18, and trisomy 13. However, its ability to detect rare autosomal trisomies has introduced a new layer of complexity and clinical uncertainty. METHODS: A retrospective analysis was conducted on the prenatal diagnostic results and pregnancy outcomes of cases identified as high-risk for rare autosomal trisomies through non-invasive prenatal testing at the reproductive medicine center, Renmin hospital, Hubei university of medicine, from 2015 to 2023. RESULTS: 66 cases identified as high-risk for rare autosomeal trisomies, yielding a detection rate of 0.20% (66/33,079). 7 declined amniocentesis, while the others underwent the procedure. Prenatal diagnostic procedures did not confirm the presence of the corresponding rare autosomal trisomy in any of these cases. Among the 66 cases of rare autosomal trisomies (RATs), 5 cases were lost to follow-up, and 1 case underwent termination of pregnancy (TOP) for personal reasons, leaving 60 cases with valid pregnancy outcomes. Of these 60 valid outcomes, 50 (83.33%) resulted in full-term births, while 10 (16.67%) experienced adverse pregnancy outcomes. CONCLUSION: Prenatal diagnosis for high-risk rare autosomal trisomies typically reveals a normal karyotype with no detectable chromosomal abnormalities, and most cases can achieve full-term pregnancy outcomes. However, adverse pregnancy outcomes such as preterm birth, fetal demise, placental abnormalities, and intrauterine growth restriction are common and should be given clinical attention and consideration.

Humans↗

PubMed1990

Prenatal diagnosis of genodermatoses by ultrastructural diagnostic markers in extra-embryonic tissues: defective hemidesmosomes in amnion epithelium of fetuses affected with epidermolysis bullosa Herlitz type (an alternative prenatal diagnosis in certain cases).

We report the first use of amnion epithelium for prenatal diagnosis. Prenatal diagnosis of recessive epidermolysis bullosa atrophicans generalisata gravis Herlitz type can at present be achieved with safety by detailed ultrastructural analysis of fetal skin. Because of the close developmental origin of amnion and skin, which has been elucidated by the recent development of anti-amnion antibodies against dermo-epidermal junction antigens and by their abnormal binding in epidermolysis bullosa skin, there is presumably some morphological relationship between amnion epithelium and skin. In a comparative study of extra-embryonic tissues, we found ultrastructurally complete hemidesmosomes in all 24 investigated normal amnion samples from gestational weeks 15-27, but not in 7 reflected chorion samples from weeks 16-22. The results of placental chorion samples were not reliable. Amnion of 5 fetuses affected with epidermolysis bullosa atrophicans generalisata gravis revealed only hypoplastic hemidesmosomes, the same defect as in the respective skin. In a recent case where unfortunately only non-skin material was available, a positive prenatal diagnosis of epidermolysis bullosa atrophicans gravis Herlitz was performed from the amnion material. The diagnosis was confirmed by investigation of the fetal skin after termination. Investigation of amnion membranes is therefore an alternative for prenatal diagnosis of epidermolysis bullosa atrophicans gravis Herlitz in certain cases. The possibility and limitations of the general use of amnion for prenatal diagnosis are discussed.

Amnion↗

PubMed1985

What determines the start of prenatal care? Prenatal care, insurance, and education.

The effects of financial coverage, education, race, age, and marital status on the start of prenatal care was studied in this analysis of 85,000 live births that occurred in New York City in 1981. Log-linear models were selected for the three variables prenatal care, coverage, and education after the data had been partitioned by race, age, and marital status. An overall model for the six variables was also selected to determine the relationship between race, age, and marital status and the three principal variables named above. Late or no prenatal care was found to be associated with Medicaid and an education of less than 12 years. For the most part, the association of race and age with late or no prenatal care was mediated by coverage and education. Hispanics, blacks, and teenagers who experienced greater odds of incomplete education and Medicaid insurance experienced greater odds of late or no prenatal care.

Adolescent↗

PubMed1992

Prenatal factors associated with breastfeeding duration: recommendations for prenatal interventions.

This study of 198 urban breastfeeding women examined the psychosocial, demographic, and medical factors identified prenatally that may be associated with longer breastfeeding duration and may serve as suitable areas for prenatal breastfeeding promotion interventions. Of 11 psychosocial and demographic factors examined, 5 were important influences on breastfeeding duration: anticipated length of breastfeeding, normative beliefs, maternal confidence, social learning, and behavioral beliefs about breastfeeding. Methods of multivariate linear regression were used to identify prenatal factors that influenced anticipated length. Of the 10 factors entered into the regression model, parity, plans to return to work or school by six months postpartum, and maternal confidence were the most significant factors affecting anticipated length of breastfeeding. Our data suggest several factors amenable to intervention during the prenatal period that appear to influence breastfeeding duration. Prenatal promotion efforts could easily incorporate strategies that influence factors such as normative and behavioral beliefs and maternal confidence.

Adult↗

PubMed1987

Prenatal cytogenetic diagnosis--a current audit. A review of 2000 cases of prenatal cytogenetic diagnoses after amniocentesis, and comparisons with early experience.

An audit of 2000 cases of prenatal cytogenetic diagnoses is presented. This comprises two consecutive series of 1000 cases (1974-1980 and 1980-1983). Chromosomal studies were performed after mid-trimester amniocentesis. For both series detailed results of the reasons for referral and the outcome of laboratory studies and pregnancy follow-up (in 95% of cases) are presented. In current practice 75% of prenatal cytogenetic diagnoses were for advanced maternal age. Ten per cent of tests were undertaken because of a family history of Down's syndrome. The detection rate of chromosomal abnormality in prenatal cytogenetic diagnoses was 2.06%. Two per cent of amniotic cell cultures failed to grow, necessitating a repeat amniocentesis. The rate of culture failure due to undefinable causes was 0.55%. Fetal loss after amniocentesis for prenatal cytogenetic diagnosis at 16 weeks' gestation has halved since 1980, with a current miscarriage rate of 0.6% within four weeks of the procedure. One maternal death (as a result of amniotic fluid embolism) and one case of amnionitis occurred in the first series of 1000 consecutive cases (up to 1980), but no such complication has occurred since. Secular trends in the indications for referral, laboratory complications, clinical outcome and diagnostic patterns are presented.

Abortion, Induced↗

PubMed1991

Prenatal exposure to benzodiazepine--I. Prenatal exposure to lorazepam in mice alters open-field activity and GABAA receptor function.

Prenatal exposure to benzodiazepines may lead to developmental abnormalities in humans and animals. To assess the behavioral and neurochemical effects of such exposure, pregnant mice were treated with lorazepam, 2 mg/kg/day, from days 13-20 of gestation, and open-field activity was assessed in offspring at 3 and 6 weeks of age and the function of GABAA receptors at 6 weeks of age. Activity was increased in mice exposed to lorazepam, compared to untreated or vehicle-treated controls at 3 weeks, but was unchanged at 6 weeks. Muscimol-stimulated uptake of chloride was decreased in lorazepam-treated mice, compared to controls, with a decrease in maximum uptake but no change in the EC50 for muscimol. Concentrations of lorazepam in maternal plasma and brain showed a similar brain:plasma ratio as previously reported and concentrations in fetal brain were about 50% of maternal levels. Lorazepam persisted for 48 hours after birth in dams but not in the offspring. These results indicate persistent behavioral and neurochemical alterations after prenatal exposure to lorazepam. This model may be useful in assessing other effects of prenatal exposure to benzodiazepine.

Animals↗

PubMed1985

Prenatal diagnosis and management of congenital heart defect: significance of associated fetal anomalies and prenatal chromosome studies.

A fetal cardiac defect was found prenatally by ultrasound in 13 of 230 women (5.6%) with a suspected fetal anomaly. Pregnancy duration varied between 17 and 39 weeks (mean 28 weeks). The reasons for referral of the 13 patients were: suspected fetal structural defect (n = 4), oligo- or polyhydramnios (n = 2), severe fetal growth retardation (n = 1), fetal cardiac arrhythmia (n = 1), or a combination thereof (n = 5). Abnormal chromosomes were found in 5 out of 13 fetuses (38%)-ie, four through prenatal and one through postnatal analysis. The present study demonstrates that fetal cardiac structural anomalies often are diagnosed in combination with ultrasonically established associated abnormality. Cytogenetic analysis of amniotic cells greatly improves diagnosis and obstetric management, especially when the cardiac defect per se is considered amenable to surgical treatment and other major structural defects have been ruled out.

Amniocentesis↗

PubMedDate not supplied

Prenatal detection of fra(X)(q27.3) in female identical twins: reliability of low level cytogenetic prenatal expression in females.

UNLABELLED: Recently, we detected fra(X)(q27.3) in amniocyte cultures from female identical twins. The pregnant woman did not exhibit fra(X)(q27.3) in whole blood cultures but was the sister of 2 affected brothers. DNA marker analyses showed that she was a carrier of FRAXA. Amniotic fluid cultures (AFCs) from twins A and B exhibited the fragile X [fra(X)] chromosome, but the level of cytogenetic expression was very low in twin A's AFCs. DNA marker studies indicated both twins were carriers of FRAXA. Peripheral umbilical blood sample (PUBS) cultures exhibited fra(X)(q27.3) at a frequency of about 10% for both twins. DNA fingerprinting indicated that the twins were identical, confirming the clinical impression, with a very thin separating amniotic membrane. To our knowledge, this is the only report of prenatal fra(X)(q27.3) detection in female identical twins, and the second report of identical twin detection [Rocchi et al., 1985]. We have diagnosed prenatally fra(X)(q27.3) in 5 female fetuses using AFCs. The average fra(X) frequency was 4% for these positive female fetuses with a range of 0.5% to 8.5%. Follow-up whole blood studies confirmed our original results at an average fra(X) frequency of 25%. IN CONCLUSION: 1. Low frequencies, perhaps 1 or 2%, or a few positive cells in AFCs, are likely to increase in magnitude when confirmed in whole blood cultures either pre- or postnatally. 2. It appears likely that the risk is low for false positive results in AFCs when low frequencies of fra(X)(q27.3) are encountered.

Cytogenetics↗

PubMed1975

Practical prenatal care. I. Initial prenatal care.

Most factors which place the mother or fetus at risk are present at the time of the initial prenatal visit or develop during the pregnancy and before admission to the hospital. As many as 40 per cent of all high risk patients may be detected at the initial prenatal visit.

Adult↗

PubMed1975

The "new" genetics: emerging medicolegal issues in the prenatal issues in the prenatal diagnosis of hereditary disorders.

Major advances in prenatal genetic diagnosis have occurred in the past few years which pose difficult challenges to the law. This paper raises questions relative to family history taking, genetic counseling, carrier detection, amniocentesis, and prenatal genetic studies, and also raises questions with respect to the rights and responsibilities of the patient, the fetus, the physician, and society in light of such modern advances. Law reform often occurs only after prior harm to an individual, family or group. Perception and delineation of the most important issues in this area should serve to stimulate the development of medicolegal guidelines and corrective legislation prior to the occurrence of a genetic tragedy.

Amniocentesis↗

PubMed1992

[Results of prenatal cytogenetic screening at the Prenatal Genetic Center of the Postgraduate Medical University between 1980-1990].

Evaluation of prenatal cytogenetic diagnosis by Genetic Center of Postgraduate Medical University in 1980 and 1990. Between 1980 and 1990, 1039 amniocenteses (AC), 1263 chorionic villus samples (CVS), and 30 fetal blood sampling were performed for cytogenetic reasons. The rate of chromosome abnormalities were 5.5 per cent in the first trimester CVS, 5.2 per cent in the second trimester CVS, and 3.1 per cent in AC. The Down syndrome was the most frequent abnormality (46 fetuses) and the next was the Edwards syndrome (15 cases). It was established that though the case number is fourteen times more than the beginning of this decade, this was enough only for screening women 39 or over. During this period several new methods were introduced making possible the diagnosis from 9th week of pregnancy until term. Among these methods the CVS has not only become an alternative to the AC but now it is the most frequent procedure in our laboratory. Though most pregnants are still referred for prenatal cytogenetic investigation because of their advanced age, the authors search for other risk factors which would make possible screening in younger women, too.

Amniocentesis↗

PubMed1988

Decision making during the prenatal diagnostic procedure. A questionnaire and interview study of 211 women participating in prenatal diagnosis.

Counselling in connection with prenatal diagnosis (PND) is a common task for the obstetrician and the midwife. However, the decision making processes of pregnant women are not completely known, for instance, the questions of women's autonomy, the decision on how to act in the case of an abnormal test, and the partner's participation in the decision. A questionnaire and interview study was carried out among 211 women undergoing PND by amniocentesis or chorionic villus biopsy. Most women in the sample indicated that PND was completely voluntary. However, at the same time almost every woman reported that it was difficult to decline from PND when offered. Even before the visit to register at the antenatal clinic, most of the women (83 per cent) had made up their minds to have PND. At the time of the test, many of the participants (62 per cent) had decided in favour of a legal abortion if the test indicated an abnormality in the fetus. At the same time, however, the data indicate a need for reflection and ambivalence, which the medical staff have to accept. In the questionnaire most of the women stated that they and their partners had similar attitudes towards PND, but when interviewed 38 per cent of the women admitted some differences between their own attitudes and their partners'. Although some women reported considerable deliberation and ambivalence, most of them said that they would undergo PND in another pregnancy.

Abortion, Legal↗

PubMed1991

Prenatal behavioral risk screening by computer in a health maintenance organization-based prenatal care clinic.

Cigarette smoking, alcohol and drug abuse, and stressful life events are significant contributors to prematurity and low birth weight in the United States. Identification and treatment of pregnant women with these risk factors require obtaining complete and accurate psychosocial histories. The purpose of this study was to determine whether a computer interview developed by our staff is appropriate for assessing behavioral risk factors for adverse pregnancy outcomes and for educating pregnant women about healthy behaviors during pregnancy. This computer interview asks about pregnant patients' perceived life stressors, diet, use of cigarettes and alcohol, and abuse of drugs. The study population consisted of 201 medically insured Hispanic and non-Hispanic white women attending a health maintenance organization--based prenatal clinic. Almost all subjects rated the computer interview favorably. Medical record reviews were conducted to compare participants' reports of cigarette, alcohol, and drug use obtained from paper-and-pencil interviews with behaviors reported during the computer interview. Although self-reported rates of smoking did not differ between the two interview techniques, a much higher percentage of women reported alcohol and drug use during the computer interview. Study participants scored significantly higher on a test measuring knowledge of the effects of stress, diet, and substances of abuse on pregnancy than did a control group. Results demonstrated the potential value of computer-interactive software programs for assessing high-risk behaviors among pregnant women in this population and educating them about healthy behaviors during pregnancy.

Adolescent↗

PubMed1991

Fetal urinary tract obstructions: prenatal diagnosis--prenatal and postnatal therapy.

A retrospective study was conducted comprising 78 cases of fetal urinary tract obstructions diagnosed by ultrasound. Thirteen of the obstructions were subvesical and 65 supravesical. In only one fetus with a subvesical obstruction leading to megacystis was a puncture of the fetal bladder performed--in the 17th week of gestation--resulting in restitution of the bladder to its normal size. In all of the remaining fetuses the kidneys, lungs, and bladder changes had already reached an advanced stage by the time the ultrasound diagnosis was made. In the 65 fetuses with supravesical urinary tract obstructions in utero puncture to relieve a rapidly developing hydronephrosis only seemed advisable in two cases. All of the prenatal diagnoses were confirmed postpartum with the exception of two Potter IIa kidneys, which had been interpreted as being hydronephrosis. The time and method of postnatal management are described. The results of the study indicate that in utero intervention is only indicated in the very rare case. Nearly all of the supravesical obstructions remained unchanged, some even for months. In these cases there was no evidence of cystic-dysplastic renal changes after delivery.

Diagnosis, Differential↗

PubMed1990

Genetic counselling and prenatal diagnosis of cystic fibrosis in Debrecen (Hungary)--prenatal diagnosis by microvillar enzyme assay from amniotic fluid.

Amniotic fluid intestinal alkaline phosphatase, gammaglutamyltransferase and trehalase activity were quantitated to assess their reliability for the prenatal diagnosis of cystic fibrosis. To obtain optimal diagnostic discrimination, the three enzyme values obtained for each sample were combined into a single linear discriminant function that proved to be a more accurate indicator of the outcome of the pregnancy. From the cases studied here, it appears that this method can be expected to give a correct prediction in 92.0% of all high risk pregnancies.

Amniotic Fluid↗

PubMed1977

Prenatal effects of herbicides: evaluation by the prenatal development index.

The herbicides 2,4-D and 2,4,5-T and many of the esters of these compounds produced cleft palates in CD-1 mice. Silvex and Agent Orange also produced cleft palates. Depending on the dose and means of administration variable responses relating to the production of cleft palates, effect on fetal weight, and effect on fetal mortality were obtained. In order to view these data comprehensively, the Prenatal Development Index was determined. This index was computed from the incidence of malformed fetuses, fetal mortality and fetal body weight. This made it possible to evaluate data from some experiments with feto-toxic doses of compounds in which the high incidence of fetal mortality and consequently low incidence of viable fetuses obscured the response.

2,4,5-Trichlorophenoxyacetic Acid↗