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Lateral ventricular atrium: larger in male than female fetuses.

OBJECTIVE: To attempt to detect the presence of a gender difference in the size of the fetal lateral ventricular atrium. METHODS: The width of the lateral ventricular atrium was measured sonographically on 543 consecutive fetuses scanned at 17-40 weeks, with a normal structural survey and documented gender assignment. Lateral ventricular measurements of male and female fetuses were compared. RESULTS: The mean width (+/- S.D.) of the lateral ventricular atrium for the entire study population of 543 fetuses was 6.5 +/- 1.4 mm. The measurement was 6.7 +/- 1.3 in male and 6.3 +/- 1.4 in female fetuses (P < 0.001). The atrial measurements were > or = 8.5 mm in 10% of the male and 7% of the female fetuses (P > 0.05, NS). CONCLUSION: Male fetuses have slightly larger cerebral lateral ventricles than female fetuses.

Cerebral Ventricles↗

The effects of gestational age and chronic fetal decapitation on arterial blood pressure in the pig fetus.

Blood pressure was measured in anaesthetized pig fetuses decapitated at 40-43 days of gestation and in intact fetuses between 35 and 112 days of gestation (term is 114 days). In the intact fetuses arterial blood pressure increased significantly from 0.8 +/- 0.1 kPa (mean +/- SEM) at 35 days to 5.8 +/- 0.2 kPa at 112 days (P less than 0.05). The arterial blood pressure of decapitated fetuses was similar to that of intact fetuses at 70 days of gestation (2.7 +/- 0.4 kPa vs. 2.5 +/- 0.1 kPa, respectively) but did not change with increasing gestational age thereafter. Hence in late gestation (greater than 90-100 days) the arterial blood pressure of the decapitated fetuses was significantly less than that of intact fetuses (P less than 0.05). These observations demonstrate that the control of blood pressure in the pig varies with gestational age and suggest that the developmental changes occurring after about 100 days gestation require tissues within the head.

Animals↗

Differences in fat and lean mass proportions in normal and growth-restricted fetuses.

OBJECTIVE: The purpose of this study was to assess fetal subcutaneous fat and lean mass areas as predictors of fetal growth restriction. STUDY DESIGN: Seventeen severe fetal growth-restricted (abdominal circumference, < 2 SD) fetuses and 20 control fetuses underwent ultrasound measurements of subcutaneous fat, lean mass, and standard biometry. Thigh subcutaneous fat and lean mass were measured on enlarged ultrasound axial images (subcutaneous fat area = total cross sectional area - lean mass area [bone + muscle areas]). Subcutaneous fat and lean mass areas were expressed as a percentage of the total cross-sectional area and were normalized to femur length and head circumference. Measurements were modeled as a function of fetal growth-restriction status and week of gestation with multiple linear regression. RESULTS: Fetal growth-restriction fetuses showed reductions in fat and lean mass (in standard biometry) and showed a disproportionate reduction in fat mass compared with lean mass. These were all associated significantly with fetal growth restriction. CONCLUSION: Fetal growth-restricted fetuses have reduced subcutaneous fat and lean mass compared with control fetuses; a further reduction occurs in subcutaneous fat concentration compared with the reduction in lean mass when fat is normalized for body size, with either head circumference or femur length. Fat-to-bone proportions may be useful in distinguishing the small for gestational age fetus who is truly fetal growth restriction from the constitutionally small fetus.

Biometry↗

Intrauterine growth of chronically instrumented rhesus monkey fetuses.

The effect of surgical and experimental manipulations on intrauterine growth of the fetus was investigated in 61 rhesus monkey fetuses in which chronic preparations were attempted. The surgical procedure consisted of hysterotomy and insertion of vascular catheters and included unilateral ligation of the fetal carotid artery. The mother was kept in a restraining chair after the operation for the duration of the preparation (0 to 39 days). Thirty-four fetuses who died within 48 hours after operation served as the control group for the growth parameters. The remaining fetuses that survived 7 days or more after the operation were included in the experimental group. Body weight, crown-rump length, crown-heel length, and foot length of the fetus and placental weight were measured at the termination of the preparation. There were significant linear correlations between all parameters and gestational age. Comparison between the control and experimental groups revealed that none of the parameters from the experimental group differed significantly from those of the control group. No relationships were found between the duration of the preparation and any of the parameters. Total brain weights from 19 fetuses exhibited a significant increase with gestational age and these values were within the normal range reported previously. There were no significant differences in weight between right and left cerebral hemispheres. No evidence of unequal blood flow to the cerebral hemispheres was found with the radioactive microsphere technique. The data suggest that the surgery performed on both the mother and the fetus and prolonged maternal restraint did not alter intrauterine fetal development.

Animals↗

Correction of hemorrhage-induced anemia with intra-amniotic iron in the ovine fetus.

OBJECTIVE: This study tested the hypothesis that intra-amniotic iron treatment would enhance fetal red blood cell production after an acute, severe fetal hemorrhage of 40% of estimated blood volume over 2 hours. STUDY DESIGN: Three groups of late-gestation ovine fetuses were studied for 10 days: (1) control fetuses (n = 8), (2) fetuses hemorrhaged on day 3 (n = 11), and (3) similarly hemorrhaged fetuses supplemented with a single bolus of 60 mg of iron injected intra-amniotically immediately after the hemorrhage (n = 7). Statistical analysis was by 3-factor analysis of variance. RESULTS: At 24 hours after hemorrhage, red blood cell mass increased 5% in the control group and was reduced equally in both hemorrhage groups by 32% below day 3 prehemorrhage values. At 7 days after hemorrhage, red blood cell mass increased 27.8% +/- 2.6% (SE) above day 3 baseline values in the control fetuses. In the nonsupplemented hemorrhaged fetuses, red blood cell mass was not different from prehemorrhage values after 7 days (+3.7% +/- 4.1%), whereas red blood cell mass increased by 29.9% +/- 6.1% above prehemorrhage values in the iron-supplemented hemorrhage group (P <.001). CONCLUSION: Intra-amniotic iron supplementation resulted in full restoration of red blood cell mass within 7 days after a large loss of blood in fetal sheep, whereas restoration failed without iron supplementation. Intra-amniotic iron treatment may be of therapeutic value in restoring red blood cell mass in human fetuses with certain types of anemia such as that resulting from fetal or fetomaternal hemorrhage.

Amnion↗

Maturation of human fetal responses to airborne sound in low- and high-risk fetuses.

The purpose of the study was to characterize the onset and maturation of airborne sound-elicited responses in low- and high-risk preterm fetuses. In Study 1, a total of 91 low-risk fetuses at 27, 30, 33, and 36 weeks GA received three sound trials at 90, 100, 105 and 110 dB and three no-stimulus control trials. The onset of cardiac acceleration and body movement responses occurred at 30 weeks GA. Maturation of the cardiac response was observed with a decrease in threshold from 105-110 dB at 33 weeks GA to 100-105 dB at 36 weeks GA. In Study 2, the procedure was similar except that the 43 high-risk fetuses at 27, 30 and 33 weeks GA did not receive sounds at 90 dB. For the high-risk fetuses, the onset of cardiac and motor responses also occurred at 30 weeks GA. At 33 weeks GA, those high-risk fetuses subsequently born at term showed an increased magnitude of the cardiac acceleration response compared to low-risk fetuses. The results indicate that both low- and high-risk fetuses begin responding to sounds at the same gestational age. Differential responses observed over gestation in the high-risk group most likely indicate differential functional development of the auditory-response system.

Acoustic Stimulation↗

Thrombopoietin in the fetus and neonate.

C-mpl ligand or thrombopoietin (Tpo) is increasingly recognised as the major regulator of platelet homeostasis in humans. Relatively little is known about Tpo in the fetus and neonate but no evidence has yet been found to suggest any fundamental difference in Tpo structure, function and regulation in the fetus and neonate compared to older age groups. Tpo mRNA transcripts have been detected in the fetus as early as 6 weeks post conception and the liver appears to be the main site of Tpo production in both the fetus and neonate. The vast majority of healthy newborns have detectable levels of circulating Tpo and raised Tpo levels are commonly, but not consistently, found in thrombocytopenic neonates. In adults receptor binding and subsequent metabolism of Tpo is proposed as the main method of regulation of the circulating Tpo level. Preliminary studies in neonates showing increased Tpo levels most often during thrombocytopenia accompanied by reduced megakaryocytopoiesis supports this concept. In addition to this demonstrable fetal and neonatal endogenous Tpo production megakaryocyte progenitor and precursor cells from the fetus and from preterm and term newborns proliferate and differentiate extensively in-vitro in response to exogenous Tpo. Furthermore a recent study has shown a marked rise in platelet count in newborn rhesus monkeys administered one form of recombinant Tpo. Although these studies remain at an early stage together these findings strongly suggest that, as in adults, Tpo is the major regulator of platelet homeostasis in the fetus and neonate. Thrombocytopenia is common in sick neonates and progress in understanding this important clinical problem is likely to be greatly enhanced by the current and future research into Tpo production, function and regulation in the healthy and thrombocytopenic fetus and neonate.

Adult↗

Temporal sequence of abnormal Doppler changes in the peripheral and central circulatory systems of the severely growth-restricted fetus.

OBJECTIVE: To identify the temporal sequence of abnormal Doppler changes in the fetal circulation in a subset of early and severely growth-restricted fetuses. METHODS: This was a prospective observational study in a tertiary care/teaching hospital. Twenty-six women who were diagnosed with growth-restricted fetuses by local standards before 32 weeks' gestation and who had abnormal uterine and umbilical artery Doppler velocimetry were enrolled onto the study. To compare Doppler changes as a function of time, pulsed-wave Doppler ultrasound was performed on five vessels in the fetal peripheral and central circulations. Doppler examinations were performed twice-weekly and on the day of delivery if the fetal heart rate tracing became abnormal. Doppler indices were scored as abnormal when their values were outside the local reference limits on two or more consecutive measurements. Biometry for assessment of fetal growth was performed every 2 weeks. Computerized fetal heart rates were obtained daily. Delivery was based on a non-reactive fetal heart rate tracing and not on Doppler information. Patients with a severely growth-restricted fetus who were delivered for maternal indications such as pre-eclampsia were excluded. Perinatal outcome endpoints included: intrauterine death, gestational age at delivery, newborn weight, central nervous system damage of grade 2 or greater, intraventricular hemorrhage and neonatal mortality. RESULTS: Mean gestational age and newborn weight at delivery were 29 (standard deviation (SD), 2) weeks and 818 (SD, 150) g, respectively. The sequence of Doppler velocimetric changes was described by onset time cumulative curves that showed two time-related events. First, for each vessel there was a progressive increase in the percent of fetuses developing a Doppler abnormality. Second, severely growth-restricted fetuses followed a progressive sequence of acquiring Doppler abnormalities which were categorized into 'early' and 'late' Doppler changes. Early changes occurred in peripheral vessels (umbilical and middle cerebral arteries; 50% of patients affected 15-16 days prior to delivery). Late changes included umbilical artery reverse flow, and abnormal changes in the ductus venosus, aortic and pulmonary outflow tracts (50% of patients affected 4-5 days prior to delivery). The time interval between the occurrence of early and late changes was significantly different (P < 0.0001) and late changes were significantly associated with perinatal death (P < 0.01). CONCLUSIONS: Doppler velocimetry abnormalities develop in different vessels of the severely growth-restricted fetus in a sequential fashion. Late changes in vascular adaptation by the severely growth-restricted fetus are the best predictor of perinatal death.

Blood Circulation↗

Effects of thyrotropin releasing hormone on cardiac and extracardiac flows of appropriately grown and growth-retarded fetuses.

The objective of this study was to establish the effect of thyrotropin releasing hormone on the fetal circulation of appropriately grown and growth-retarded fetuses. Doppler recordings were performed immediately before and 15 min after maternal administration of 400 micrograms of thyrotropin releasing hormone in 14 women with appropriately grown and 19 with growth-retarded fetuses. Furthermore, in six women with growth-retarded fetuses, serial recordings were performed at 2-hourly intervals for 8 h until a second thyrotropin releasing hormone dose was administered. Velocity waveforms were recorded from the outflow tracts, inferior vena cava, umbilical artery, middle cerebral artery and descending aorta, and different Doppler indices calculated. In appropriately grown fetuses, thyrotropin releasing hormone induced a significant increase of peak systolic velocity values in the aorta and pulmonary artery and an increase of Doppler-estimated cardiac output. In growth-retarded fetuses, these changes were more evident and associated with a significant decrease in reverse flow in the inferior vena cava during atrial contraction. No changes were observed in fetal heart rate or in the other fetal vessels investigated. In the growth-retarded fetuses followed longitudinally, these changes were evident for the following 8 h and were potentiated by the second thyrotropin releasing hormone administration. In conclusion, thyrotropin releasing hormone induces significant hemodynamic effects on the fetal heart that may temporarily improve the impaired cardiac function of growth-retarded fetuses.

Adult↗

Interfetal heart rate and size variation in first-trimester multifetal pregnancies and heart rate of surviving fetuses after fetal reduction.

The objective of this study was to determine the variation in first-trimester fetal size and fetal heart rates in multifetal pregnancies, and to study the effect of fetal reduction on the surviving fetal heart rate. Fetal crown-rump length and fetal heart rates were measured in 44 patients with multifetal pregnancies who underwent fetal reduction. The heart rates of the surviving fetuses were also measured immediately after, and 1 h following the procedure. A total of 143 fetuses were evaluated prior to reduction and 75 fetuses following the procedure. There was no significant difference in crown-rump length between fetuses of the same gestation. The interfetal fetal heart rate variation between fetuses of the same gestation, expressed as a standard deviation, was 4.78 +/- 0.51 beats/min (mean standard deviation +/- standard error of the mean) before reduction; this was a significantly greater variation than could be attributed to error in the measurement of heart rate. In the surviving fetuses, the mean heart rate did not change. However, immediately after the reduction, interfetal heart rate variation was abolished, but was observed again 1 h after the reduction. We conclude that in first-trimester multifetal pregnancies (1) there is no significant difference in fetal crown-rump length; (2) there is interfetal variation in heart rates; and (3) fetal reduction has only a limited effect on the heart rates of surviving fetuses.

Embryonic and Fetal Development↗

Pituitary-thyroid function of fetuses of hypothyroid and growth hormone treated hypothyroid rats.

Maternal hypothyroidism induced by surgical thyroidectomy (Tx) of the rat resulted in significantly higher fetal serum levels of thyroid stimulating hormone (TSH) and thyroxine (T4) on day 22 of gestation. Surprisingly, administration of growth hormone (GH) to hypothyroid mothers increased further the fetal serum T4 and TSH. The in vitro uptake of 131I-T4 by erythrocytes was elevated significantly when incubated with serum from fetuses of both hypothyroid and hypothyroid GH-treated mothers. Although the plasma protein levels of hypothyroid mothers and their fetuses are decreased significantly as compared to controls this is not true of hypothyroid GH-treated mothers and their fetuses. The T4 levels of both groups of Tx mothers were significantly below that of controls. However, as in the case of their fetuses, the serum T4 of GH-treated hypothyroid mothers was elevated from that of Tx only animals. It is concluded that the pituitary-thyroid system of fetuses of hypothyroid mothers is activated excessively during late gestation, that considerable T4 can be transported from the fetus to the mother during this period and that these fetuses are in fact born in a hyperthyroid state which is aggravated by maternal treatment with GH.

Animals↗

Conflicting perceptions of the fetus: person, patient, 'nobody', commodity?

Different constructions of the fetus lie at the centre of reproductive, abortion and disability politics. Recent developments mean that, within the same hospital, a fetus may be perceived in contrasting and potentially conflicting ways. It is also argued that the status given to the fetus is directly relevant to the status given to pregnant women. During group discussions facilitated by an ethicist, health-care staff highlighted various perceptions of the fetus which included: person; patient; 'nobody'; commodity. Perhaps not surprisingly in view of the current legal situation, staff tended to claim that it is usually the pregnant women who decides how her fetus will be constructed, and the practitioner who responds to this. However, various ways in which practitioners might influence women's perceptions of their fetus are highlighted, as are some ways in which the perceptions of staff might be influenced. This paper illustrates how sensitive health-care staff will need to be if they are indeed to respond to, rather than shape, women's constructions of their fetus.

Attitude of Health Personnel↗

Pathogenesis of Campylobacter fetus infections: serum resistance associated with high-molecular-weight surface proteins.

Campylobacter fetus subspecies fetus causes both systemic and diarrheal illnesses. We studied 38 strains of C. fetus isolated from 34 patients; underlying illness was present in eight (89%) of nine patients with only systemic isolates compared with three (20%) of 15 patients with only fecal isolates (P = .002). In a standardized assay of susceptibility to normal human serum, 27 (71%) strains were resistant, six (16%) had intermediate susceptibility, and five (13%) were serum sensitive. Major protein bands migrating at 100 kDa or 125 kDa on polyacrylamide gels were present in all of the 25 serum-resistant strains tested but in only four of seven serum-sensitive isolates of C. fetus from humans and animals (P = .007). The presence of these bands was associated with type A lipopolysaccharide. A low-passaged strain, 82-40, was serum resistant and contained the 100-kDa protein; however, a spontaneous mutant of this strain lacked this band and was serum sensitive. The 100-kDa and 125-kDa proteins of three strains of C. fetus were antigenically cross reactive or identical and were exposed on the surface of the C. fetus cell. Serum resistance is inherent to most C. fetus isolates from humans and is associated with the presence of cross-reactive surface proteins.

Animals↗

Tissue-specific elevated genomic cytosine methylation levels are associated with an overgrowth phenotype of bovine fetuses derived by in vitro techniques.

Epigenetic perturbations are assumed to be responsible for abnormalities observed in fetuses and offspring derived by in vitro techniques. We have designed an experiment with bovine Day 80 fetuses generated by somatic cell nuclear transfer (SCNT), in vitro fertilization (IVF), and artificial insemination (AI) to determine the relationship between fetal phenotype and genome-wide 5-methylcytosine (5mC) content. When compared with AI controls, SCNT and IVF fetuses displayed significantly increased body weight (61% and 28%), liver weight (100% and 36%), and thorax circumference (20% and 11%). A reduced crown-rump length:thorax circumference ratio (1.175 +/- 0.017 in SCNT and 1.292 +/- 0.018 in IVF vs. 1.390 +/- 0.018 in AI, P < 0.001 and P < 0.002) was the external hallmark of this disproportionate overgrowth phenotype. The SCNT fetuses showed significant hypermethylation of liver DNA in comparison with AI controls (3.46% +/- 0.08% vs. 3.17% +/- 0.09% 5mC, P < 0.03), and the cytosine methylation levels for IVF fetuses (3.34% +/- 0.09%) were, as observed for phenotypic parameters, intermediate to the other groups. Regressions of fetal body and liver weight and thorax circumference on 5mC content of liver DNA were positive (P < 0.073-0.079). Furthermore, a significant negative regression (P < 0.021) of the crown-rump length:thorax circumference ratio on liver 5mC was observed. The 5mC content of placental cotyledon DNA was 46% lower than in liver DNA (P < 0.0001) but did not differ among groups. These data are in striking contrast with the recently reported hypomethylation of DNA from SCNT fetuses and indicate that hypermethylation of fetal tissue, but not placenta, is linked to the overgrowth phenotype in bovine SCNT and IVF fetuses.

5-Methylcytosine↗

Extended conversion coefficients for use in radiation protection of the embryo and fetus against external neutrons from 10 MeV to 100 GeV.

External neutron exposure is of concern in the environment and in some workplaces. Dose assessments for neutrons frequently rely on fluence-to-absorbed dose conversion coefficients. A problem of concern in radiation protection is exposure of pregnant women to ionizing radiation because of the high radiosensitivity of the embryo and fetus. While neutron fluence-to-dose conversion coefficients for adults are recommended in ICRP publications and ICRU reports, conversion coefficients for embryos and fetuses are not given in the publications. This study uses the Monte Carlo code MCNPX to determine mean absorbed doses to the embryo and fetus when the mother is exposed to neutron fields. A previous study has dealt with neutrons from 1 eV to 10 MeV. In this study, monoenergetic neutrons ranging from 10 MeV to 100 GeV are considered. The irradiation geometries include antero-posterior, postero-anterior, lateral, rotational, and isotropic. At each of these standard irradiation geometries, absorbed doses to the fetal brain and body are calculated for the embryo of 8 wk and the fetus of 3, 6, or 9 mo. Neutron fluence-to-absorbed dose conversion coefficients are derived for the four prenatal ages. The results showed that the fetus at about 3 mo of prenatal age should receive more radiation protection to prevent long-term brain damage. During prenatal life, the fetus generally receives the highest absorbed dose per unit neutron fluence for antero-posterior irradiation. In cases where the irradiation geometry is not specified or not adequately known, conversion coefficients of AP-irradiation can therefore be used in a conservative dose assessment of fetus exposure to external neutrons.

Body Burden↗

Ependymal denudation and alterations of the subventricular zone occur in human fetuses with a moderate communicating hydrocephalus.

In mutant rodents, ependymal denudation occurs early in fetal life, preceding the onset of a communicating hydrocephalus, and is a key event in the etiology of this disease. The present investigation was designed to obtain evidence whether or not ependymal denudation occurs in 16- to 40-week-old human fetuses developing a communicating hydrocephalus (n = 8) as compared to fetuses of similar ages with no neuropathologic alterations (n = 15). Sections through the walls of the cerebral aqueduct and lateral ventricles were processed for lectin binding and immunocytochemistry using antibodies against ependyma, astroglia, neuroblasts, and macrophages markers. Anticaveolin was used as a functional marker of the fetal ependyma. The structural and functional molecular markers are differentially expressed throughout the differentiation of the human fetal ependyma. Denudation of the ependyma of the aqueduct and lateral ventricles occurred in all fetuses developing a communicating hydrocephalus, including the youngest ones studied. The denuded surface area increased in parallel with the fetus age. The possibility is advanced that in many or most cases of human fetal hydrocephalus there is a common defect at the ependymal cell lineage leading to ependymal detachment. Evidence was obtained that in hydrocephalic human fetuses a process to repair the denuded areas takes place during the fetal life. In hydrocephalic fetuses, detachment of the ependyma of the lateral ventricles resulted in the (i) loss of the germinal ependymal zone, (ii) disorganization of the subventricular zone and, (iii) abnormal migration of neuroblasts into the ventricular cavity. Thus, detachment of the ependymal layer in hydrocephalic fetuses would not only be associated with the pathogenesis of hydrocephalus but also to abnormal neurogenesis.

Cerebral Aqueduct↗

Amplified fragment length polymorphism based identification of genetic markers and novel PCR assay for differentiation of Campylobacter fetus subspecies.

Differentiation of Campylobacter fetus into C. fetus subsp. fetus (Cff) and C. fetus subsp. venerealis (Cfv) is important for both clinical and economic reasons. In the past, several molecular typing methods have been used for differentiation, including amplified fragment length polymorphism (AFLP). In this study, AFLP was employed to identify C. fetus subspecies specific markers that can serve as a basis for design of novel PCR primer sets for Cfv. Four groups of C. fetus strains with different phenotypic or genotypic traits were examined by AFLP using 22 different DdeI/MboI primer combinations. Specific AFLP fragments were deduced and sequenced resulting in 41 sequences. Based on the obtained sequences, five potential subspecies-specific PCR assays were developed. Extensive evaluation of the five selected PCRs with a set of 65 diverse C. fetus strains identified primer set Cf C05 as subspecies Cfv-specific. This newly developed PCR is fully consistent with the AFLP subspecies differentiation results. The data indicate AFLP as a powerful tool for comparing closely related genomes and for exploiting this information to develop a specific PCR with extensive typing potential.

Animals↗

The expression of congenital ichthyosiform erythroderma in second trimester fetuses of the same family: morphologic and biochemical studies.

The first born offspring of first-cousin parents was affected with a keratinization disorder thought to be nonbullous congenital ichthyosiform erythroderma (CIE). In each of three subsequent pregnancies, the parents elected to have prenatal diagnosis based on evaluation of fetal skin biopsies. The epidermis of fetus 1 was identical to normal 21-wk estimated gestation age (EGA) fetal epidermis, but because keratinization begins normally around 24 wk EGA, the procedure was repeated 4 wk later. A thin epidermis with a few layers of stratum corneum indicated a normal fetus and a healthy infant was born at term. Skin biopsy samples from fetus 2 gave conflicting results; the epidermis of one sample appeared normal but the second had 5-15 layers of incompletely keratinized cells superficial to basal and intermediate layers. The hair canals of both samples were hyperkeratotic. Pelleted amniotic fluid cells contained aggregates of incompletely keratinized epidermal cells and concentric rings of keratinized cells. The fetus was thought to be affected and the pregnancy terminated. Regional variation in epidermal thickness and keratinization was noted upon gross examination of the fetus and by histology of the skin. Marked hyperkeratinization of follicles was evident in all regions. No abnormal keratins were expressed in the affected epidermis but epidermal lipids analyzed from two body regions had a lower triglyceride content and a higher content of free sterols compared with age-matched, normal fetal epidermis. Immunolabeling for markers of differentiation revealed variable stages of epidermal differentiation according to region. Four structurally identical biopsy samples were obtained from a third fetus. The epidermis appeared normal for age and hair canals were keratinized to various extents. The pregnancy was continued and at 33 wk a male infant was born with a severe ichthyosis of the face and scalp and fine, white scaling on the body. The epidermis of both the severely and mildly affected regions of the newborn had a thick, compact stratum corneum and other features of CIE. Scars from all four fetal biopsies were identified on the trunk, in areas which appeared less affected clinically. This study reports, for the first time, the criteria for prenatal diagnosis of CIE and the variable expression of this disorder in the midtrimester fetus. More importantly, it demonstrates the risks and pitfalls of this in utero diagnosis based on epidermal morphology.

Adult↗