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PubMed1998

Prenatal stress effects are partially ameliorated by prenatal administration of the neurosteroid allopregnanolone.

This study examined the effects of exposure to prenatal stress on young and adult rats, and whether the concomitant administration of an anxiolytic neurosteroid, allopregnanolone (3-alpha-hydroxy-5 alpha-pregnan-20-one), could ameliorate some of the behavioral dysfunctions associated with prenatal stress. Pregnant dams were assigned to one of five treatment groups on gestational day 14. These groups were exposed to either 1) restraint for 45 min three times daily; 2) a vehicle injection twice daily; 3) 5 mg/kg allopregnanolone twice daily; 4) restraint with allopregnanolone injections; or 5) nonhandled controls. Assays for plasma allopregnanolone concentrations indicated that exogenous allopregnanolone injections significantly raised circulating levels to a comparable degree in gestational day 20 dams and their fetuses. At 7 days of age, however, subjects prenatally exposed to allopregnanolone either alone or with restraint now had lower circulating levels compared to the other groups, suggesting some negative compensatory change. Behavioral results suggested that the effects of prenatal stress on affective behaviors (ultrasonic vocalizations emitted after a brief maternal separation at 7 days of age, and plus-maze behavior at 70 days of age) could be reversed by coadministration of allopregnanolone. When locomotor activity was assessed at 16 and 60 days of age, no comparable reversal effect was observed. In fact, the allopregnanolone groups had results similar to those of the restraint alone group. Thus, for some neuronal systems, allopregnanolone may exert either a direct teratogenic effect or an indirect effect due to neurosteroid-induced behavioral changes in the pregnant dam.

Animals↗
PubMed1996

Type of prenatal sensory experience affects prenatal auditory learning in bobwhite quail (Colinus virginianus).

This study examined the effects of specific types of prenatal auditory stimulation on the auditory learning capacity of bobwhite embryos (Colinus virginianus) incubated in either communal or isolation conditions. Results revealed that socially incubated embryos could learn an individual bobwhite maternal call, whereas embryos denied physical and tactile stimulation as a result of isolation incubation failed to demonstrate prenatal auditory learning of the maternal call. In contrast, embryos exposed to bobwhite chick contentment calls in the period prior to hatching demonstrated prenatal auditory learning, whether they were incubated socially or in isolation. Socially incubated and isolation-incubated embryos exposed to bobwhite chick distress calls failed to learn the individual maternal call, indicating that the type of sensory stimulation the developing organism encounters prenatally is important in fostering normal perceptual learning ability.

Animals↗
PubMed1997

Accuracy of birth certificate data regarding the amount, timing, and adequacy of prenatal care using prenatal clinic medical records as referents.

This study compared birth certificate data on the amount, timing, and adequacy of prenatal care with the same data abstracted from the prenatal clinic records of 2,032 women who attended a health department prenatal clinic in northeast Georgia from 1980 to 1988. Overall accuracy was poor. Only 14.3% (n = 291) of the records completely agreed on the total number of visits, while approximately 36% (n = 738) and 53% (n = 1,081) agreed within one visit and two visits, respectively. Complete agreement for month and trimester prenatal care began was 31.1% (n = 632) and 50.6% (n = 1,202), respectively. Because of the small geographic region included in the current study, the generalizability of these findings to other populations may be limited.

Adult↗
PubMedDate not supplied

Thinking outside the box: prenatal care and the call for a prenatal advance directive.

The concept of advance directives is well-known in the care of adults as a mechanism for choosing in advance the extent of medical interventions desired in clinical situations, particularly life-extending interventions such as ventilation support and drugs to maintain cardiopulmonary status. Infants born extremely prematurely often require life-supporting measures for which their parents or guardians report feeling unprepared to make decisions about. Current prenatal care does not include an educational component that teaches women about the length of gestation needed for a healthy viability, survivorship, and outcome without major impairment. Women who go into preterm labor are asked to make immediate decisions during times of crisis without any formal education base for this decision making. Feminist ethics (the philosophical stance that articulates that women's moral experience is worthy of respect and disallows women's subordination) (Becker LB, Becker CB, eds. Feminist ethics. In: Encyclopedia of Ethics. New York: Routledge Press; 2001) requires that healthcare decisions be based on education, context, and particular situations. The purpose of this article is to examine the current content of typical prenatal care and education and to suggest an additional educational component to prenatal care-education of women about infant viability and the planning of future decisions if a nonviable or critically ill newborn is delivered. A prenatal discussion and parental/family directive is suggested.

Advance Directives↗
PubMed2006

Comparison of motor delays in young children with fetal alcohol syndrome to those with prenatal alcohol exposure and with no prenatal alcohol exposure.

BACKGROUND: Researchers are increasingly considering the importance of motor functioning of children with fetal alcohol spectrum disorder (FASD). The purpose of this study was to assess the motor development of young children with fetal alcohol syndrome (FAS) to determine the presence and degree of delay in their motor skills and to compare their motor development with that of matched children without FAS. METHODS: The motor development of 14 children ages 20 to 68 months identified with FAS was assessed using the Vineland Adaptive Behavior Scales (VABS). In addition, 2 comparison groups were utilized. Eleven of the children with FAS were matched for chronological age, gender, ethnicity, and communication age to: (1) 11 children with prenatal alcohol exposure who did not have FAS and (2) 11 matched children without any reported prenatal alcohol exposure. The motor scores on the VABS were compared among the 3 groups. RESULTS: Most of the young children with FAS in this study showed clinically important delays in their motor development as measured on the VABS Motor Domain, and their fine motor skills were significantly more delayed than their gross motor skills. In the group comparisons, the young children with FAS had significantly lower Motor Domain standard (MotorSS) scores than the children not exposed to alcohol prenatally. They also had significantly lower Fine Motor Developmental Quotients than the children in both the other groups. No significant group differences were found in gross motor scores. For MotorSS scores and Fine Motor Developmental Quotients, the means and standard errors indicated a continuum in the scores from FAS to prenatal alcohol exposure to nonexposure. CONCLUSIONS: These findings strongly suggest that all young children with FAS should receive complete developmental evaluations that include assessment of their motor functioning, to identify problem areas and provide access to developmental intervention programs that target deficit areas such as fine motor skills. Fine motor delays in children with FAS may be related to specific neurobehavioral deficits that affect fine motor skills. The findings support the concept of an FASD continuum in some areas of motor development.

Adaptation, Psychological↗
PubMed2001

[Results of 1043 prenatal cytogenetic studies: retrospective study in the context of applicability of interphase FISH in prenatal diagnosis]].

OBJECTIVES: The risk of aneuploidy in a fetus is the main reason for referral in approximately 80% of prenatal studies. Recently, a new method for rapid detection of the most frequent aneuploidies affecting chromosomes 13, 18, 21, X and Y has been developed. Fluorescence in situ hybridisation (FISH) on uncultured fetal cells with probes specific for these chromosomes has been described which enables diagnosing aneuploidies within 24 to 48 hours. The purpose of the study was evaluation of clinical utility of this new method in prenatal diagnostics. MATERIALS AND METHODS: Retrospective analysis of the results of 1043 prenatal cytogenetic studies performed with conventional banding methods was done. Number and type of chromosomal abnormalities found in different categories of indications with special emphasis on aberrations undetectable by FISH were analysed. RESULTS: Chromosomal aberrations were found in 4.7% studies. The frequency of aneuploidies was 1.8% accounting for 35.8% of all diagnosed chromosomal abnormalities. In the group of 854 studies performed for elevated risk of aneuploidy it accounted for 60.7% (17/28) abnormalities. All other aberrations could not be detected by FISH with probes for most frequent aneuploidies. Among them, there were 6 unbalanced: del (8) and pseudic (15) with known abnormal phenotype and 4 marker chromosomes with unknown clinical consequences. Three other abnormalities were balanced but familial origin of them was documented. CONCLUSIONS: A karyotype using classical banding methods should be performed whatever the indication of prenatal study is. It is the only fully informative method able to detect all chromosomal abnormalities. Interphase FISH assay must be considered as a complementary procedure to fetal karyotype analysis as it is designed only for aneuploidy identification. However it may be a very useful method for rapid diagnosis in specific clinical conditions especially in the cases of high risk of aneuploidy.

Adult↗
PubMed2006

[The impact of prenatal diagnosis on the prevention of chromosomal mental retardation. Chromosomal alterations that can be detected by prenatal diagnosis].

INTRODUCTION: Recent advances in cytogenetic analysis techniques, in obstetric procedures and in ultrasonography techniques have made it possible to identify chromosome anomalies that are likely to cause mental retardation before it becomes apparent. DEVELOPMENT: Certain groups of pregnant females are clearly indicated for access to a prenatal diagnosis. An advanced childbearing age, a previous child with trisomy and the ultrasound detection of morphological anomalies in the foetus are situations that entail a significantly high risk of a foetal chromosomal anomaly. The identification of other risk factors, such as biochemical markers in maternal serum and ultrasound markers, have made it possible to select pregnant females with a higher risk for the most common chromosome anomalies, which include trisomies 21, 18 and 13, in screening programmes that can be applied to all pregnant women. Carriers of a balanced chromosome rearrangement have a clear risk of bearing offspring with a genetic imbalance, which can occasion congenital malformations and/or mental retardation, with specific problems for each type of structural anomaly. An important percentage of the chromosome anomalies that are unexpectedly detected in prenatal diagnosis offer difficulties when it comes to establishing the correlation between the karyotype and the phenotype and forecasting possible mental retardation if the pregnancy reaches full term. CONCLUSIONS: The number and variety of chromosome anomalies that can be detected prenatally shows the potential of prenatal diagnosis in the prevention of mental retardation due to chromosomal causes.

Chromosome Disorders↗
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↗
PubMed1997

Prenatal diagnosis in the Netherlands. Dutch Working Party of Prenatal Diagnosis.

Prenatal invasive diagnosis of genetic conditions in the Netherlands is well organised, based on uniform indications and has a sound financial structure. Facilities for fetal karyotyping and DNA analysis are available in the 8 academic centres. Prenatal diagnosis of metabolic diseases is mainly carried out in Rotterdam. Amniocentesis, transcervical and transabdominal chorionic villus sampling are carried out in all centres, including 4 subcentres. The national Working Party on Prenatal Diagnosis started in 1985 and is a useful platform for all obstetricians and geneticists involved in prenatal diagnosis.

Chromosome Aberrations↗
PubMed2005

Evidence-based prenatal care: Part I. General prenatal care and counseling issues.

Effective prenatal care should integrate the best available evidence into a model of shared decision making. Pregnant women should be counseled about the risks of smoking and alcohol and drug use. Structured educational programs to promote breastfeeding are effective. Routine fetal heart auscultation, urinalysis, and assessment of maternal weight, blood pressure, and fundal height generally are recommended, although the evidence for these interventions is variable. Women should be offered ABO and Rh blood typing and screening for anemia during the first prenatal visit. Genetic counseling and testing should be offered to couples with a family history of genetic disorders, a previously affected fetus or child, or a history of recurrent miscarriage. All women should be offered prenatal serum marker screening for neural tube defects and aneuploidy. Women at increased risk for aneuploidy should be offered amniocentesis or chorionic villus sampling. Counseling about the limitations and risks of these tests, as well as their psychologic implications, is necessary. Folic acid supplementation beginning in the preconception period reduces the incidence of neural tube defects. There is limited evidence that routine use of other dietary supplements may improve outcomes for the mother and infant.

Blood Grouping and Crossmatching↗
PubMed2002

Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling.

We describe a set of monozygotic (MZ) female twins, one of whom presented with a typical Turner syndrome (TS) phenotype and the other a normal female phenotype. Prenatal fetal ultrasonographic examination showed a monochorial diamniotic pregnancy with a hygroma colli and growth delay in Twin A and no anomalies in Twin B. Karyotypic analysis performed on fetal blood samples demonstrated a 46,XX/45,X (23/2) mosaicism in Twin A and a normal 46,XX chromosome constitution in Twin B. At birth, Twin A presented with a typical TS and Twin B had a normal female phenotype. Postnatal cytogenetic investigation of blood lymphocytes showed the same 46,XX/45,X mosaicism in both twins: 46,XX/45,X (40/7) in Twin A and 46,XX/45,X (40/5) in Twin B. Further investigations at the age of 10 months showed in Twin A a 46,XX/45,X (98/2) mosaicism in lymphocytes and 100% of 45,X (50 analysed cells) in fibroblasts, and in Twin B a normal 46,XX (100 analysed cells) chromosome constitution in lymphocytes but a mild 46,XX/45,X (78/2) mosaicism in fibroblasts. Monozygosity was confirmed by molecular analysis. To our knowledge, this is the first report of prenatal diagnosis of MZ female twins discordant for TS. Review of reported sets of MZ female twins (eight cases) or triplets (one case) discordant for TS shows, as in the present case, that the phenotype correlates better with the chromosomal distribution of mosaicism in fibroblasts than in lymphocytes. In the blood of MZ twins chimerism may modify the initial allocation of the mosaicism. These results suggest that, in cases of prenatal diagnosis of MZ female twins discordant for TS, the phenotype of each twin would be better predicted from karyotype analysis of cells from amniotic fluid than from fetal blood.

Adult↗
PubMedDate not supplied

Prenatal diagnosis of intracranial teratoma. Prolonged survival after resection of a malignant teratoma diagnosed prenatally by ultrasound: a case report and literature review.

We are reporting a case of an infant with an intracranial malignant teratoma which was diagnosed prenatally by ultrasound at 37 weeks of gestational age. After a cesarean delivery, the resection of the tumor was performed at 24 h of age. This infant is currently the oldest reported survivor that carries this prenatal diagnosis. He is also the first reported infant with surgical intervention for an intracranial malignant teratoma diagnosed prenatally.

Adrenocorticotropic Hormone↗
PubMed1995

Prenatal genetic counseling for hemoglobinopathy carriers: a comparison of primary providers of prenatal care and professional genetic counselors.

Health personnel trained in medical genetics are insufficient to meet the demand for genetic services. Methods must be found to enable primary care providers to offer commonly needed genetic services themselves. In our recently reported community-wide prenatal screening program for hemoglobinopathies, 36% of women detected to have a hemoglobinopathy did not come to a tertiary center for counseling and thus may have not benefited from testing. To determine whether the efficiency of the program could be increased if counseling were provided by the prenatal care provider (obstetrician or family practitioner), we developed a pilot training program on the basis of our experience in offering such services and enlisted 68% of regional prenatal care providers to participate. The proportion of patients detected to have a hemoglobinopathy who received counseling was similar in the primary and tertiary provider groups: 59% versus 50%, respectively, for sickle trait, and 69% versus 66%, respectively, for beta-thalassemia trait. Knowledge after counseling was also similar for the primary and tertiary provider groups: 64% versus 66% (mean % correct), respectively, for sickle trait, and 79% versus 78%, respectively, for beta-thalassemia trait. However, the two provider groups significantly differed with regard to whether or not the patient had her partner tested. For sickle trait, it was 25% for the primary providers but 49% for the tertiary providers (P < .001). For beta-thalassemia trait, it was 47% for the primary providers but 78% for the tertiary providers (P < .001).(ABSTRACT TRUNCATED AT 250 WORDS)

Female↗
PubMed1999

Pitfalls in prenatal diagnosis of DMD due to placental mosaicism of the X-chromosomes: prenatal and postnatal findings in a fetus with a deletion of exons 67-71 of the dystrophin gene.

Prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD) is performed as a routine procedure in many laboratories. The major potential problem is an incorrect diagnosis that could be obtained due to contamination with maternal tissue. We report a case of mosaicism of the X-chromosomes confined to the placenta as a possible source of confusing results in prenatal diagnosis of DMD. To the best of our knowledge, this is the first reported case of this problem in a prenatal DMD diagnosis.

Abortion, Induced↗
PubMedDate not supplied

Prenatal spinal evaluation and functional outcome of patients born with myelomeningocele: information for improved prenatal counselling and outcome prediction.

OBJECTIVE: Prenatal ultrasonography can localize the level of the spinal cord malformation, allowing prediction of the potential postnatal neurological deficit and functional prognosis. METHODS: This study has two evaluations: (a) a retrospective prenatal review of 26 fetuses with spinal dysraphism (1987-1991), and (b) a follow-up descriptive study of patients (1971-1981) who underwent closure of the spinal lesion and ventricular shunting in the neonatal period. RESULTS: Prenatal ultrasound evaluation enabled the accurate definition of the last intact vertebral level which allows separation of fetuses into three functional groups (last intact level L2, L3-4, L5-sacral). Patterns of ambulation, urinary and bowel continence, and school performance vary according to level of spinal lesion and the neurological deficit. The need for ventricular shunts, the incidence of other spinal malformations and surgical interventions did not vary with the level of the spinal lesion. CONCLUSIONS: The functional outcome for patients with myelomeningocele is variable; however, distinct patterns emerge based on the level of spinal dysraphism and the resultant neurological deficit. By relating the level of the fetal spinal lesion to outcome data, more precise functional prognoses can be given to families.

Counseling↗
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↗
PubMedDate not supplied

[Prenatal surveillance and determinants of prenatal follow-up in the Monastir health district].

Prenatal monitoring is a prime strategy to improve the end of pregnancy. To estimate the prevalence rate and the conditions determining such a monitoring, the authors carried out a survey on 1190 pregnant women in the Monastir district (Tunisia). The rate of satisfactory monitoring (4 check-up and more) is 45.8 p.c. Age and high parity have a negative influence, but instruction, occupation and a bad out come of the last pregnancy favour a satisfactory prenatal monitoring.

Adolescent↗
PubMed2001

Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation.

Mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 (DFNB1 locus) have been shown as a major contributor to prelingual, non-syndromic, autosomal recessive deafness in Caucasian populations. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene and is one of the most frequent disease mutations identified to date. We have previously reported a carrier frequency of 35delG of 3.5% in the Greek population, and the 35delG mutation has been detected in one-third of the alleles in Greek patients with sensorineural, prelingual, non-syndromic deafness. The description of this common mutation has opened the way to prenatal diagnosis of prelingual deafness, and we here describe our experience with 29 couples requesting counseling, carrier testing and prenatal diagnosis of DFNB1 deafness.

Chromosomes, Human, Pair 13↗