RESUMO
BACKGROUND: A total of 75% of monozygotic twins share 1 monochorionic placenta where placental anastomoses cause several serious complications, for example, acardiac twinning. Acardiac twins lack cardiac function but grow by perfusion of arterial blood from the pump twin. This rare pregnancy has 50% natural pump twin mortality but accurate risk prediction is currently impossible. Recent guidelines suggest prophylactic surgery before 18 weeks, suggesting 50% unnecessary interventions. We hypothesize that (1) adverse pump twin outcome relates to easy-to-measure pump/acardiac umbilical venous diameter (UVD) ratios, representing acardiac perfusion by the pump's excess cardiac output. This hypothesis suggests that (2) UVD-ratios are large, mildly varying in cases without complications but small and decreasing when complications develop, thus predicting that (3) UVD-ratios may allow risk prediction of pump twins. In this exploratory clinical pilot, we tested whether UVD-ratio measurements support these predictions. METHODS: We included 7 uncomplicated (expectant management), 3 elective surgical, and 17 complicated cases (pump decompensation, emergency intervention/delivery or demise). Nine UVD-ratios were measured sonographycally and 18 by pathology. RESULTS: Uncomplicated cases have larger, two serial measurements showing mildly varying UVD-ratios; elective surgical cases show larger UVD-ratios; complicated cases have smaller, two serial measurements showing decreasing UVD-ratios. There were no false-positives, no false-negatives and noncrossing linear trendlines of uncomplicated and complicated cohorts. CONCLUSION: Our data provide first evidence that UVD-ratios allow risk prediction of pump twins. More early uncomplicated and late complicated cases are needed, for example, in a prospective trial, before the separation between uncomplicated and complicated cohorts is accurate enough to support a well-founded decision on (early) intervention.
Assuntos
Anormalidades Congênitas/embriologia , Cardiopatias Congênitas/embriologia , Coração/embriologia , Placenta/irrigação sanguínea , Gêmeos Monozigóticos , Veias Umbilicais/fisiopatologia , Feminino , Humanos , Placenta/fisiologia , Gravidez , Gravidez de Gêmeos , Estudos RetrospectivosRESUMO
Monochorionic diamniotic twins share a single placenta and have intertwin vascular communications that link the circulatory systems of the twins together. Twin anemia-polycythemia sequence (TAPS) is an atypical form of twin-twin transfusion syndrome (TTTS) caused by net transfer of blood from one fetus to the other and is characterized by large intertwin hemoglobin differences in the absence of oligohydramnios and polyhydramnios. This condition may develop spontaneously (sTAPS) or as a result of residual vascular communications after prior laser surgery. Because of the relatively low prevalence and lack of clinical awareness, the natural history of sTAPS is unclear and the antenatal treatment remains controversial. Case series of sTAPS have described expectant management with timed delivery, intrauterine blood transfusion, and fetoscopic laser treatment. Favorable outcomes have been described in cases of uncomplicated sTAPS that underwent conservative measures. However, we believe that there may be a subgroup of high-risk or complicated sTAPS patients that may benefit from definitive treatment afforded by fetoscopic laser therapy. We describe 3 complicated cases of sTAPS successfully treated with selective laser photocoagulation of communicating vessels. In 2 of the cases, placental pathology identified thrombosed fetal vessels of the polycythemic twin.
Assuntos
Anemia/cirurgia , Transfusão Feto-Fetal/cirurgia , Fetoscopia/métodos , Terapia a Laser/métodos , Policitemia/cirurgia , Adulto , Transfusão de Sangue Intrauterina , Feminino , Humanos , Pessoa de Meia-Idade , Gravidez , Resultado do TratamentoRESUMO
OBJECTIVE: Circulating adrenal steroids rise during the menopausal transition in most middle-aged women and may contribute to differences in between-women symptoms and ultimate health outcomes. However, the mechanisms for this shift in adrenal steroid production in middle-aged women are not known. This study aims to determine whether hormone therapy (HT) for 1 year can modulate adrenal androgen production. METHODS: Younger (9.8 [0.4] years, n = 20) and older (22.7 [0.4] years, n = 37) female laboratory macaques were ovariectomized, and each group was treated with different regimens of HT for up to 1 year. Changes in adrenal histology and circulating adrenal androgens were monitored after estrogen-alone (E) or estrogen plus progesterone (E + P) treatment, and these changes were compared with the same measures in similarly aged animals given vehicle. RESULTS: Zona reticularis area, serum dehydroepiandrosterone (DHEA), and serum dehydroepiandrosterone sulfate (DHEAS) were higher in younger vehicle-treated animals compared with older vehicle-treated animals (P < 0.02). Both E and E + P treatments decreased circulating DHEAS in the younger group (P < 0.05). Although E treatment also decreased DHEAS in the older group, this was not statistically significant. In contrast, E + P treatment in the older group resulted in a rise in DHEAS over vehicle, which was significantly higher than the results of E treatment (P < 0.01). Circulating concentrations of DHEA exhibited similar trends, but these changes did not reach statistical significance. CONCLUSIONS: These data demonstrate that intervention with ovarian steroids can modulate adrenal androgen production in female higher primates and that both animal age and type of HT regimen determine adrenal response.
Assuntos
Glândulas Suprarrenais/metabolismo , Androgênios/metabolismo , Terapia de Reposição de Estrogênios , Macaca mulatta/fisiologia , Menopausa/fisiologia , Progesterona/administração & dosagem , Glândulas Suprarrenais/efeitos dos fármacos , Envelhecimento , Androstenodiol/sangue , Animais , Desidroepiandrosterona/sangue , Sulfato de Desidroepiandrosterona/sangue , Estradiol/sangue , Terapia de Reposição de Estrogênios/métodos , Feminino , Modelos Animais , Ovariectomia , Zona Reticular/anatomia & histologiaRESUMO
The chorioallantoic placenta connects mother and fetus in eutherian pregnancies. In order to understand the evolution of the placenta and provide further understanding of placenta biology, we sequenced the transcriptome of a term placenta of an African elephant (Loxodonta africana) and compared these data with RNA sequence and microarray data from other eutherian placentas including human, mouse, and cow. We characterized the composition of 55,910 expressed sequence tag (i.e., cDNA) contigs using our custom annotation pipeline. A Markov algorithm was used to cluster orthologs of human, mouse, cow, and elephant placenta transcripts. We found 2,963 genes are commonly expressed in the placentas of these eutherian mammals. Gene ontology categories previously suggested to be important for placenta function (e.g., estrogen receptor signaling pathway, cell motion and migration, and adherens junctions) were significantly enriched in these eutherian placenta-expressed genes. Genes duplicated in different lineages and also specifically expressed in the placenta contribute to the great diversity observed in mammalian placenta anatomy. We identified 1,365 human lineage-specific, 1,235 mouse lineage-specific, 436 cow lineage-specific, and 904 elephant-specific placenta-expressed (PE) genes. The most enriched clusters of human-specific PE genes are signal/glycoprotein and immunoglobulin, and humans possess a deeply invasive human hemochorial placenta that comes into direct contact with maternal immune cells. Inference of phylogenetically conserved and derived transcripts demonstrates the power of comparative transcriptomics to trace placenta evolution and variation across mammals and identified candidate genes that may be important in the normal function of the human placenta, and their dysfunction may be related to human pregnancy complications.
Assuntos
Elefantes , Evolução Molecular , Placenta , Placentação , Animais , Bovinos , Elefantes/genética , Elefantes/crescimento & desenvolvimento , Etiquetas de Sequências Expressas/metabolismo , Feminino , Humanos , Mamíferos/genética , Mamíferos/crescimento & desenvolvimento , Camundongos , Dados de Sequência Molecular , Filogenia , Placenta/metabolismo , Placentação/genética , Gravidez , TranscriptomaRESUMO
OBJECTIVES: Compared to singleton pregnancies, monochorionic twins have increased rates of perinatal morbidity and mortality, believed due in part to both twin-twin transfusion syndrome and an increased risk of congenital anomalies. Here we describe the prevalence of noncardiac structural anomalies in monochorionic twins with twin-twin transfusion syndrome who underwent laser surgery. METHODS: In a retrospective study of 221 consecutive cases of twin-twin transfusion syndrome treated with laser surgery, noncardiac anomalies were identified by review of antepartum and neonatal medical records. RESULTS: Of 377 live-born twins, 19 (5.0%) had a noncardiac anomaly. This rate was increased for donor versus recipient twins (8.5% versus 2.0%; P < .01). The presence of an anomaly was unrelated to the Quintero stage, the presence of donor intrauterine growth restriction, or 30-day survival of the donor or recipient. CONCLUSIONS: The prevalence of noncardiac anomalies in pregnancies complicated by twin-twin transfusion syndrome who underwent laser surgery was higher in donors versus recipients.
Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/epidemiologia , Transfusão Feto-Fetal/diagnóstico por imagem , Transfusão Feto-Fetal/epidemiologia , Comorbidade , Feminino , Humanos , Recém-Nascido , Los Angeles/epidemiologia , Masculino , Prevalência , Medição de Risco , Fatores de Risco , UltrassonografiaAssuntos
Fetoscopia/educação , Terapia a Laser , Curva de Aprendizado , Obstetrícia/educação , Feminino , Humanos , GravidezAssuntos
Córion/diagnóstico por imagem , Gravidez de Gêmeos , Gêmeos , Ultrassonografia Pré-Natal , Adulto , Córion/cirurgia , Feminino , Transfusão Feto-Fetal/diagnóstico por imagem , Transfusão Feto-Fetal/cirurgia , Fetoscopia , Humanos , Recém-Nascido , Fotocoagulação a Laser , Gravidez , Resultado da GravidezRESUMO
Twin anemia-polycythemia sequence (TAPS) is an atypical form of twin-twin transfusion syndrome (TTTS) that presents as a large intertwin hemoglobin difference with one twin developing anemia and the other developing polycythemia, without oligohydramnios-polyhydramnios sequence (Lopriore et al., Placenta 2007;28:47-51). The prenatal diagnostic criteria for TAPS require that the middle cerebral artery-peak systolic velocity (MCA-PSV) measure greater than 1.5 multiples of median (MoM) in the donor twin and less than 0.8 MoM in the recipient twin (Robyr et al., Am J Obstet Gynecol 2006;194:796-803; Klaritsch et al., Ultrasound Obstet Gynecol 2009;34:149-154; Mari et al., N Engl Med 2000;342:9-14). The presumed etiology of TAPS involves the presence of small caliber arteriovenous anastomoses, which generate a slow transfusional process allowing for hemodynamic compensation (Lopriore et al., Placenta 2007;28:47-51; Lopriore et al., Placenta 2009;30:223-225; Lewi et al., Am J Obstet Gynecol 2006;194:790-795; Lopriore et al., Am J Obstet Gynecol 2008;112:753-758; Van den Wijngaard et al., Placenta 2007;28:611-615). The resulting polycythemia in the recipient twin is a risk factor for fetal and placental thrombosis (Van den Wijngaard et al., Am J Physiol 2005;288:R799-R814). We present a case of spontaneous TAPS complicated by a large placental vessel thrombosis and hydrops fetalis. Treatment via selective laser photocoagulation of communicating vessels (SLPCV) resulted in normalization of the MCA-PSV discordance.
Assuntos
Anemia/complicações , Hidropisia Fetal , Policitemia/complicações , Trombose Venosa/complicações , Aborto Eugênico , Anemia/diagnóstico , Anemia/cirurgia , Feminino , Transfusão Feto-Fetal/complicações , Transfusão Feto-Fetal/diagnóstico , Transfusão Feto-Fetal/cirurgia , Fetoscopia , Humanos , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/patologia , Hidropisia Fetal/cirurgia , Recém-Nascido , Pessoa de Meia-Idade , Placenta/irrigação sanguínea , Placenta/cirurgia , Doenças Placentárias/diagnóstico , Doenças Placentárias/patologia , Doenças Placentárias/cirurgia , Policitemia/diagnóstico , Policitemia/cirurgia , Gravidez , Redução de Gravidez Multifetal , Gravidez Múltipla , Trigêmeos , Trombose Venosa/diagnóstico , Trombose Venosa/cirurgiaRESUMO
Triclocarban (TCC; 3,4,4'-trichlorocarbanilide) is an antimicrobial agent used widely in various personal hygiene products including soaps. Recently, TCC has been shown to enhance testosterone-induced effects in vitro and to enlarge accessory sex organs in castrated male rats. This study was designed to evaluate the effects of TCC on intact age-matched male rats and on human prostate LNCaP and C4-2B cells. Seven-week-old male Sprague-Dawley rats received either a normal diet or a diet supplemented with TCC (0.25% in diet) for 10 days. Triclocarban induced hyperplasia of accessory sex organs in the absence of significant qualitative histological changes. Serum luteinizing hormone (LH) and testosterone were not significantly altered by TCC treatment. In prostate cancer-derived LNCaP and C4-2B cells, TCC potentiated androgen actions via androgen receptor-dependent actions. In conclusion, TCC significantly affects intact male reproductive organs and potentiates androgen effects in prostate cancer cells.
Assuntos
Anti-Infecciosos Locais/toxicidade , Carbanilidas/toxicidade , Hormônio Luteinizante/sangue , Próstata/efeitos dos fármacos , Testosterona/sangue , Animais , Peso Corporal/efeitos dos fármacos , Linhagem Celular Tumoral , Humanos , Masculino , Tamanho do Órgão/efeitos dos fármacos , Próstata/patologia , Próstata/fisiopatologia , Neoplasias da Próstata/patologia , Neoplasias da Próstata/fisiopatologia , Ratos , Ratos Sprague-Dawley , Receptores Androgênicos/metabolismo , Maturidade Sexual/efeitos dos fármacos , Transcrição Gênica/efeitos dos fármacos , Água/metabolismoRESUMO
Persistent pulmonary hypertension (PPHN) of the newborn remains a challenging condition to diagnose and treat. It has been reported in infants with Smith-Lemli-Opitz syndrome (SLOS), a rare defect in cholesterol synthesis. Typically, there is evidence of pulmonary hypoplasia. We report the first case of PPHN in the absence of pulmonary hypoplasia or other parenchymal diseases in an infant with SLOS. Perturbations in cholesterol metabolism interrupt key signaling pathways that participate in the normal maintenance of pulmonary vascular tone. We found that caveolae-dependent signaling may be involved in this process since our patient had altered expression of caveolin-1.
Assuntos
Síndrome da Persistência do Padrão de Circulação Fetal/complicações , Síndrome de Smith-Lemli-Opitz/diagnóstico , Caveolina 1/metabolismo , Evolução Fatal , Humanos , Imuno-Histoquímica , Recém-Nascido , Pulmão/metabolismo , Masculino , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico , Síndrome da Persistência do Padrão de Circulação Fetal/metabolismo , Síndrome de Smith-Lemli-Opitz/metabolismoRESUMO
BACKGROUND: Twin-twin transfusion syndrome occurs in 10% of monozygotic monochorionic twin gestations and results from an unbalanced exchange of blood from the donor to the recipient fetus through placental anastomoses. CASE: We present a case of twin-twin transfusion syndrome with differing fetal sex treated with in utero laser surgery. Genetic analyses showed 46,XX/46,XY hematologic chimerism in both twins at birth and at 6 months, with the recipient twin being significantly more chimeric than the donor. Placental pathologic examination confirmed monochorionicity and laser ablation of all anastomoses. CONCLUSION: Despite in utero separation of the fetal circulations remote from delivery, hematologic chimerism persisted after birth. We speculate that the greater degree of blood chimerism in the recipient compared with the donor was related to the pathophysiology of twin-twin transfusion syndrome before laser surgery.
Assuntos
Antígenos de Grupos Sanguíneos , Quimerismo , Transfusão Feto-Fetal/cirurgia , Adulto , Feminino , Transfusão Feto-Fetal/fisiopatologia , Humanos , Terapia a Laser , Gravidez , GêmeosRESUMO
OBJECTIVE: To describe our experience with preferential use of sequential selective laser photocoagulation of communicating vessels (SQLPCV) in women with twin-twin transfusion syndrome (TTTS). METHODS: Women with TTTS received treatment using the SQLPCV technique whenever possible. SQLPCV mandates ablation of all donor-to-recipient arteriovenous communications first, in comparison to the standard non-sequential selective technique. RESULTS: Of 99 consecutive women treated, 64 received SQLPCV. Overall survival of one or both twins was 91% and dual survival was 72%. Higher dual survival rates (80 vs. 57%, p=0.0317) and donor survival rates (83 vs. 63%, p=0.0489) were noted in the SQLPCV group. Multivariable logistic regression demonstrated that the SQLPCV technique was highly associated with dual survivorship (OR=4.64 [1.57-13.74], p=0.0056), when controlling for gestational age at surgery, duration of laser treatment and number of anastomoses lasered. Neither Quintero stage, placental location, preoperative discordance prior to surgery, nor preoperative cervical length contributed to this equation. The SQLPCV technique was also associated with donor survivorship (OR=4.43 [1.44-13.67], p=0.0095), when controlling for the same covariates. CONCLUSION: Treatment of TTTS via SQLPCV technique was associated with higher dual survival and donor twin survival rates as compared to standard SLPCV.
Assuntos
Transfusão Feto-Fetal/cirurgia , Terapia a Laser/métodos , Peso ao Nascer , Feminino , Transfusão Feto-Fetal/mortalidade , Idade Gestacional , Humanos , Mortalidade Infantil , Recém-Nascido , Modelos Logísticos , Gravidez , Taxa de Sobrevida , Resultado do Tratamento , Trigêmeos , GêmeosRESUMO
Galectin-1 is an anti-inflammatory lectin with pleiotropic regulatory functions at the crossroads of innate and adaptive immunity. It is expressed in immune privileged sites and is implicated in establishing maternal-fetal immune tolerance, which is essential for successful pregnancy in eutherian mammals. Here, we show conserved placental localization of galectin-1 in primates and its predominant expression in maternal decidua. Phylogenetic footprinting and shadowing unveil conserved cis motifs, including an estrogen responsive element in the 5' promoter of LGALS1, that were gained during the emergence of placental mammals and could account for sex steroid regulation of LGALS1 expression, thus providing additional evidence for the role of galectin-1 in immune-endocrine cross-talk. Maximum parsimony and maximum likelihood analyses of 27 publicly available vertebrate and seven newly sequenced primate LGALS1 coding sequences reveal that intense purifying selection has been acting on residues in the carbohydrate recognition domain and dimerization interface that are involved in immune functions. Parsimony- and codon model-based phylogenetic analysis of coding sequences show that amino acid replacements occurred in early mammalian evolution on key residues, including gain of cysteines, which regulate immune functions by redox status-mediated conformational changes that disable sugar binding and dimerization, and that the acquired immunoregulatory functions of galectin-1 then became highly conserved in eutherian lineages, suggesting the emergence of hormonal and redox regulation of galectin-1 in placental mammals may be implicated in maternal-fetal immune tolerance.
Assuntos
Galectina 1/genética , Regulação da Expressão Gênica/fisiologia , Hormônios Esteroides Gonadais/fisiologia , Tolerância Imunológica , Placenta/metabolismo , Animais , Evolução Biológica , Biologia Computacional , Bases de Dados de Ácidos Nucleicos , Feminino , Galectina 1/metabolismo , Regulação da Expressão Gênica/imunologia , Troca Materno-Fetal/imunologia , Dados de Sequência Molecular , Oxirredução , Filogenia , Gravidez , Primatas , VertebradosRESUMO
OBJECTIVE: Placenta accreta is a life-threatening problem that is rising in incidence in the developed world. The increased risk of placenta accreta in women with placenta previa and 1 or more prior cesarean deliveries is well established and prompts careful sonographic evaluation. Our objective was to emphasize that accreta is also identified at sites other than cesarean scars. METHODS: Two cases of placenta accreta without placenta previa seen in association with uterine scarring from myomectomy and uterine fibroids are described. RESULTS: The sonographic and magnetic resonance imaging findings of accreta are reviewed in the classic setting of prior cesarean deliveries as well as myomectomy and uterine fibroids. CONCLUSIONS: We suggest that when the placenta overlies any uterine abnormality, a careful search for invasive placentation is warranted.
Assuntos
Ginatresia/complicações , Ginatresia/diagnóstico por imagem , Leiomioma/complicações , Leiomioma/diagnóstico por imagem , Placenta Acreta/diagnóstico por imagem , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Gravidez , UltrassonografiaRESUMO
BACKGROUND: Amniotic bands can cause disruption of the cranial end of the developing fetus, leading in some cases to a neural tube closure defect. Although recurrence for unaffected parents of an affected child with a defect in which the neural tube closed normally but was subsequently disrupted by amniotic bands is negligible; for a primary defect in closure of the neural tube to which amnion has subsequently adhered, recurrence risk is 1.7%. In that primary defects of neural tube closure are characterized by typical abnormalities of the base of the skull, evaluation of the cranial base in such fetuses provides an approach for making a distinction between these 2 mechanisms. This distinction has implications regarding recurrence risk. METHODS: The skull base of 2 fetuses with amnion rupture sequence involving the cranial end of the neural tube were compared to that of 1 fetus with anencephaly as well as that of a structurally normal fetus. The skulls were cleaned, fixed in 10% formalin, recleaned, and then exposed to 10% KOH solution. After washing and recleaning, the skulls were exposed to hydrogen peroxide for bleaching and photography. RESULTS: Despite involvement of the anterior neural tube in both fetuses with amnion rupture sequence, in Case 3 the cranial base was normal while in Case 4 the cranial base was similar to that seen in anencephaly. CONCLUSIONS: This technique provides a method for determining the developmental pathogenesis of anterior neural tube defects in cases of amnion rupture sequence. As such, it provides information that can be used to counsel parents of affected children with respect to recurrence risk.
Assuntos
Âmnio/patologia , Defeitos do Tubo Neural/diagnóstico , Defeitos do Tubo Neural/patologia , Base do Crânio/patologia , Humanos , Recidiva , Fatores de RiscoRESUMO
The conjoint immunohistochemistry-in situ hybridization (IHC-ISH) procedure permits, under routine light microscopic conditions, simultaneous documentation of either a male or female karyotype plus the immunological phenotype of individual cells within paraffin-embedded tissues. We have used this technique to characterize the inflammatory response in placental villitis of unknown etiology (VUE). A male placenta with severe VUE and appropriate control placentas were analyzed. In situ hybridization probes concurrently label both the X and Y chromosomes. On the same tissue section, individual cells were characterized with antibodies to CD3, CD68, or CD20. The amnion and syncytiotrophoblast were delineated by cytokeratin antibody (AE1/AE3). A complete karyotyping was performed on amnion cells to validate the procedure. Amnion cell karyotyping confirmed the accuracy of the procedure. The VUE case revealed that 88.8% of intravillous CD3+ lymphocytes were female (maternal), while 11.2% were male (fetal). Intervillous CD3+ lymphocytes and CD68+ macrophages were universally female. Intravillous CD68+ cells were only 10.5% female. Perivillous CD68+ cells were 94.6% female. Remarkably, multinucleated giant cells were exclusively maternal. This study confirms that lymphocytes in VUE are predominately but not exclusively maternal T cells. Our findings indicate that invasion of fetal villi by maternal T cells is associated with focal destruction of the syncytiotrophoblast, clarifying how placental immuno-defensive mechanisms may be contravened.
Assuntos
Vilosidades Coriônicas/patologia , Imuno-Histoquímica/métodos , Hibridização In Situ/métodos , Troca Materno-Fetal , Doenças Placentárias/etiologia , Adulto , Antígenos CD/metabolismo , Biomarcadores/metabolismo , Vilosidades Coriônicas/metabolismo , Cromossomos Humanos X , Cromossomos Humanos Y , Feminino , Humanos , Inflamação/etiologia , Inflamação/metabolismo , Inflamação/patologia , Macrófagos/metabolismo , Macrófagos/patologia , Masculino , Troca Materno-Fetal/genética , Troca Materno-Fetal/imunologia , Doenças Placentárias/metabolismo , Doenças Placentárias/patologia , Gravidez , Reprodutibilidade dos Testes , Linfócitos T/metabolismo , Linfócitos T/patologiaRESUMO
Placental mesenchymal dysplasia (PMD) is a rare condition of placentomegaly and abnormal chorionic villi often clinically mistakenly as partial hydatidiform mole. However, it is clinicopathologically distinct with high incidence of intrauterine growth restriction (IUGR) and fetal death. This study presents 11 new PMD cases and provides a meta-analysis of the associated IUGR and fetal death rates. The cases were identified between 1971 and 2005, mostly from consultation files. To our knowledge, 71 PMD cases have previously been reported; 15 of these were associated with Beckwith-Wiedemann syndrome (BWS). With the addition of our new results, among all cases without BWS, 50% had IUGR and 43% had intrauterine fetal demise (IUFD) or neonatal death. Females represented 82% of cases. Thus, PMD is associated with high IUGR and IUFD/neonatal death rates and disproportionally affects females. The cause and pathogenesis are yet unknown. The current understanding and hypotheses involving PMD are discussed.
Assuntos
Morte Fetal/patologia , Retardo do Crescimento Fetal/patologia , Doenças Placentárias/patologia , Placenta/patologia , Adulto , Síndrome de Beckwith-Wiedemann/etiologia , Síndrome de Beckwith-Wiedemann/patologia , Vilosidades Coriônicas/metabolismo , Vilosidades Coriônicas/patologia , Feminino , Morte Fetal/epidemiologia , Morte Fetal/etiologia , Retardo do Crescimento Fetal/epidemiologia , Retardo do Crescimento Fetal/etiologia , Idade Gestacional , Humanos , Mesoderma/metabolismo , Mesoderma/patologia , Placenta/diagnóstico por imagem , Placenta/metabolismo , Doenças Placentárias/epidemiologia , Doenças Placentárias/metabolismo , Gravidez , Ultrassonografia Pré-NatalRESUMO
We performed a retrospective review of the length of the umbilical cords of stillborn fetuses with renal agenesis, cystic kidneys, and bladder outlet obstruction and compared the cord length with normative data. Among the 41 cases, 31 had umbilical cord lengths that were shorter than average. However, the remaining 10 cases had an average to increased cord length. Urinary output in those cases might have been sufficient in early pregnancy to allow adequate fetal activity and sufficient umbilical cord lengthening. We suggest that the length of the umbilical cord can have implications relative to the developmental pathogenesis of some congenital urinary tract abnormalities.
Assuntos
Oligo-Hidrâmnio/etiologia , Cordão Umbilical/anatomia & histologia , Anormalidades Urogenitais/complicações , Doenças Urológicas/congênito , Feminino , Feto , Humanos , Gravidez , NatimortoRESUMO
Congenital pulmonary airway malformation, or congenital cystic adenomatoid malformation, is postulated to be a disorder of pulmonary airway morphogenesis and encompasses 5 different types with distinct levels or stages of tracheobronchial development. We present a unique case of type 2 congenital pulmonary airway malformation with a previously undocumented combination of multiple extrapulmonary anomalies, featuring ipsilateral multicystic renal dysgenesis, contralateral renal agenesis, and ovarian germ cell hypoplasia, diagnosed in a 19-week gestational age fetus by autopsy. Epithelial cells comprising the pulmonary lesions were positive for thyroid transcription factor-1, surfactant protein-B, and cytokeratin-7 but negative for cytokeratin-20 immunostainings, with the pattern seen in normal terminal bronchioles. Chromosomal analysis showed a normal female karyotype, despite a high estimated risk for Down syndrome suggested by the low maternal serum alpha-fetoprotein level.
Assuntos
Malformação Adenomatoide Cística Congênita do Pulmão/patologia , Aborto Eugênico , Autopsia , Malformação Adenomatoide Cística Congênita do Pulmão/genética , Malformação Adenomatoide Cística Congênita do Pulmão/metabolismo , Feminino , Feto , Humanos , Imuno-Histoquímica , Rim/anormalidades , Pulmão/patologia , GravidezRESUMO
We report two consecutive Caucasian male siblings of nonconsanguineous parents autopsied at 22 and 13 weeks gestational age both with prenatal diagnosis of Jarcho-Levin syndrome (JLS). Segmentation anomalies of the vertebrae and ribs encompass a spectrum of syndromes with or without associated anomalies of other developmental fields, and include spondylothoracic dysostosis (STD), JLS, Casamassima-Morton-Nance (CMN) syndrome, and spondylocostal dysostosis (SCD), among others. In both these new JLS cases the autopsies confirmed that there were severe developmental alterations in the thoracic and vertebral skeleton (including "crab-like" thorax), accompanied in the older fetus by renal defects. Because vertebral development is controlled by a limited number of master genes including Pax1 and Pax9, we analyzed protein expression from these genes in these two cases compared to age-matched controls. Immunochemical analysis showed a significant reduction in levels of Pax1 and Pax9 protein expression in chondrocytes of the vertebral column. Implications for the etiology and pathogenesis of JLS and related disorders are discussed.