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OBJECTIVE: The objective of the study was to evaluate prenatal sonographic signs that distinguish male fetuses with posterior urethral valves (PUV) from those with vesicoureteral reflux (VUR). METHODS: Prenatal data were retrospectively retrieved from all consecutive women delivering between 2003 and 2012 of a male newborn with a postnatal diagnosis of PUV or VUR. Prenatal parameters included fetal bladder characteristics, identification of a dilated posterior urethra, and change in shape and size in the fetal renal pelvis or ureter. RESULTS: One hundred thirty-six women gave birth to a male newborn with a postnatal diagnosis of PUV (n = 49) or VUR (n = 87). The presence of posterior urethral dilatation [21 (42.9%) fetuses versus 0 (0%), p = 0.000], a thickened fetal bladder wall [37 (75.5%) vs 4 (4.6%), p = 0.000], and anhydramnios [14 (28.6%) vs 0, p = 0.000] were strongly associated with the postnatal diagnosis of PUV. Change in shape and size in the fetal renal pelvis or ureter was observed in 15 (17.2%) of 87 children with VUR versus 1 (2.0%) out of 49 with PUV (p = 0.010). CONCLUSIONS: Prenatal ultrasound may differentiate with reasonable accuracy male fetuses with a postnatal diagnosis of PUV from those with VUR. © 2016 John Wiley & Sons, Ltd.
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Ultrassonografia Pré-Natal , Doenças Uretrais/congênito , Doenças Uretrais/diagnóstico por imagem , Refluxo Vesicoureteral/diagnóstico por imagem , Adulto , Feminino , Humanos , Masculino , Gravidez , Estudos RetrospectivosRESUMO
Objective Describe a case of cloaca prenatally diagnosed in one of a set of monoamniotic twins. Study Design Retrospective review of a case. Results Cloaca is one of the most complex and severe degrees of anorectal malformations in girls. We present a discordant cloaca in monoamniotic twins. Fetal ultrasound showed a female fetus with a pelvic midline cystic mass, a phallus-like structure, a probable anorectal atresia with absence of anal dimple and a flat perineum, and renal anomalies. The diagnosis was confirmed by fetal magnetic resonance imaging postnatally. Conclusions The rarity of the malformation in a monoamniotic pregnancy, the difficulties of prenatal diagnosis, the pathogenic assumptions, and the consequences of adequate amniotic fluid for fetal lung development are discussed.
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OBJECTIVE: This study aims to evaluate the use of fetal brain magnetic resonance imaging (MRI) following an antenatal sonographic diagnosis of isolated cleft lip with or without cleft palate (CL/P). METHOD: This was a retrospective study of 92 fetuses antenatally diagnosed with isolated CL/P on screening ultrasound. All patients underwent expert diagnostic antenatal ultrasound, fetal brain MRI, and karyotype analysis. RESULTS: Five cases were excluded from the study as associated abnormalities were detected on expert ultrasound: corpus callosum agenesis (n = 1), retrognathism (n = 3), and ectrodactyly (n = 1). Fetal MRI diagnosed unsuspected midline cerebral abnormalities in four out of the 87 remaining cases (4.6%): vermis agenesis (n = 1), isolated arhinencephaly (n = 2), and suspicion of pituitary abnormality (n = 1). All karyotype analyses were normal. CONCLUSION: In CL/P, the incidence of associated cerebral abnormalities overlooked on ultrasound is 4.6%. Careful evaluation of midline structures by expert ultrasound in CL/P is necessary and may be sufficient. MRI can be useful if the US examination is limited or in case of family history. However, the choice to proceed to fetal MRI may vary from institution to institution.
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Doenças Cerebelares/diagnóstico , Cérebro/anormalidades , Fenda Labial/complicações , Fissura Palatina/complicações , Anormalidades do Olho/diagnóstico , Feto/anormalidades , Holoprosencefalia/diagnóstico , Doenças Renais Císticas/diagnóstico , Anormalidades Múltiplas , Doenças Cerebelares/complicações , Cerebelo/anormalidades , Fenda Labial/diagnóstico por imagem , Fissura Palatina/diagnóstico por imagem , Anormalidades do Olho/complicações , Feminino , Holoprosencefalia/complicações , Humanos , Doenças Renais Císticas/complicações , Imageamento por Ressonância Magnética , Hipófise/anormalidades , Gravidez , Diagnóstico Pré-Natal , Retina/anormalidades , Estudos Retrospectivos , UltrassonografiaRESUMO
BACKGROUND/AIMS: A mild increase in thyrotropin (thyroid-stimulating hormone; TSH) is common among Down syndrome patients but is rarely detected by neonatal screening at birth. We hypothesized that Down syndrome was associated with fetal hypothyroidism and tried to determine whether Down syndrome fetuses had evidence of hypothyroidism. METHODS: We performed a prospective observational study on 13 fetuses with Down syndrome diagnosed prenatally. TSH and free thyroxine (FT4) levels were measured in fetal blood. The results were analyzed and compared with the findings from fetal sonography and histopathology. RESULTS: Of the 13 fetuses, 6 had TSH values greater than the 95th percentile, and FT4 values were low. None of the fetuses had sonographic evidence of goiter. The thyroids were normal by gross examination but exhibited small follicles and histological features suggesting delayed maturation. CONCLUSION: The absence of goiter even in fetuses with hyperthyrotropinemia suggests a mild decrease in TSH responsiveness.
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Síndrome de Down/sangue , Doenças Fetais/sangue , Hipotireoidismo/sangue , Glândula Tireoide/metabolismo , Tireotropina/sangue , Tiroxina/sangue , Adulto , Feminino , Feto , Humanos , Masculino , GravidezRESUMO
OBJECTIVE: To establish a nomogram of the corpus spongiosum dimensions in male fetuses and to evaluate its correlation with penile length. These references can be useful when fetal genital anomalies are suspected, particularly to distinguish micropenis from concealed penis cases. METHOD: A cross-sectional prospective study was conducted on 486 fetuses of normal singleton pregnancies between 18 and 40 weeks. Corpus spongiosum length, penile length, penile diameter and scrotal diameter were measured by one operator. All measurements were analyzed according to gestational age. RESULTS: The four measurements were studied as a function of gestational age. Median values, 3(rd) and 97(th) percentiles were determined using regression curves. A correlation between penile length and corpus spongiosum length (r(2) = 0.845) was observed. CONCLUSION: We established measurements of the length of fetal corpus spongiosum and a correlation between the former and the penile length. These references can be useful when fetal genital anomalies are suspected.
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Pênis/diagnóstico por imagem , Estudos Transversais , Feminino , Humanos , Masculino , Nomogramas , Gravidez , Estudos Prospectivos , Valores de Referência , Ultrassonografia Pré-Natal , Anormalidades Urogenitais/diagnóstico por imagemRESUMO
INTRODUCTION: Iodine is essential for normal fetal and neonatal development. We studied the prevalence and impact on fetal thyroid development of iodine deficiency in pregnant women in the northern part of the Paris conurbation. MATERIALS AND METHODS: 110 patients underwent several determinations of urinary iodine excretion (UIE) and of serum FT4, FT3, and TSH. Fetal thyroid gland size was assessed using ultrasonography. RESULTS: We found evidence of widespread iodine deficiency (mean UIE, 49.8 µg/L [standard deviation, 2.11]). Iodine deficiency did not correlate significantly with maternal thyroid parameters but showed a significant negative correlation with fetal thyroid gland size (rhoâ=â0.25, Pâ=â0.02). CONCLUSION: Iodine deficiency during pregnancy is still a problem in our geographical area and affects the fetal thyroid gland. Clinical Trials.gov NCT00162539.
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Iodo/deficiência , Complicações na Gravidez/etiologia , Doenças da Glândula Tireoide/etiologia , Glândula Tireoide/embriologia , Algoritmos , Feminino , Feto/anatomia & histologia , Idade Gestacional , Humanos , Iodo/uso terapêutico , Tamanho do Órgão , Paris/epidemiologia , Gravidez , Complicações na Gravidez/sangue , Complicações na Gravidez/tratamento farmacológico , Complicações na Gravidez/urina , Doenças da Glândula Tireoide/sangue , Doenças da Glândula Tireoide/tratamento farmacológico , Doenças da Glândula Tireoide/urina , Testes de Função Tireóidea , Glândula Tireoide/anatomia & histologia , Glândula Tireoide/diagnóstico por imagem , Ultrassonografia Pré-NatalRESUMO
Fetal thyroid is essential for normal fetus development. Echography of fetuses from mothers with Graves' disease is extremely specific for detecting an intrauterine thyroid dysfunction. We report the first correlation of two cases between color Doppler and histologic study of fetal thyroid goiters.
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Doenças Fetais/diagnóstico por imagem , Bócio/diagnóstico por imagem , Doença de Graves/complicações , Complicações na Gravidez , Glândula Tireoide/diagnóstico por imagem , Ultrassonografia Doppler/métodos , Ultrassonografia Pré-Natal/métodos , Evolução Fatal , Feminino , Morte Fetal , Doenças Fetais/patologia , Bócio/complicações , Bócio/patologia , Humanos , Neovascularização Patológica/diagnóstico por imagem , Neovascularização Patológica/patologia , Gravidez , Glândula Tireoide/irrigação sanguínea , Glândula Tireoide/patologiaRESUMO
CONTEXT: Nonimmune fetal goitrous hypothyroidism is a rare condition that can induce obstetrical and/or neonatal complications and neurodevelopmental impairments such as those still seen in some patients with congenital hypothyroidism. Prenatal treatment to prevent these adverse outcomes is appealing, but experience is limited and the risk to benefit ratio controversial. OBJECTIVE: The objective of the study was to evaluate the feasibility, safety, and effectiveness of intrauterine l-thyroxine treatment in a large cohort with nonimmune fetal goitrous hypothyroidism. DESIGN: This was a retrospective study of 12 prenatally treated fetuses diagnosed between 1991 and 2005 in France. METHODS: During pregnancy, goiter size and thyroid hormone levels were compared before and after prenatal treatment. At birth, clinical, laboratory, and ultrasound data were evaluated. RESULTS: Prenatal treatment varied widely in terms of l-thyroxine dosage (200-800 microg/injection), number of injections (one to six), and frequency (every 1-4 wk). No adverse events were recorded. During pregnancy, thyroid size decreased in eight of nine cases and amniotic-fluid TSH levels decreased in the six investigated cases, returning to normal in four. However, at birth, all babies had hypothyroidism, indicating that intraamniotic TSH levels did not reliably reflect fetal thyroid function. CONCLUSION: Our data confirm the feasibility and safety of intraamniotic l-thyroxine treatment for nonimmune fetal goitrous hypothyroidism. Although goiter size reduction is usually obtained, thyroid hormone status remains deficient at birth. Amniocentesis seems inadequate for monitoring fetal thyroid function. Further studies are needed to determine the optimal management of this disorder.
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Hipotireoidismo Congênito/prevenção & controle , Doenças Fetais/tratamento farmacológico , Bócio/tratamento farmacológico , Hipotireoidismo/tratamento farmacológico , Tiroxina/uso terapêutico , Âmnio , Líquido Amniótico/metabolismo , Feminino , Doenças Fetais/metabolismo , Humanos , Hipotireoidismo/metabolismo , Injeções , Masculino , Gravidez , Estudos Retrospectivos , Testes de Função Tireóidea , Tireotropina/metabolismo , Tiroxina/administração & dosagem , Resultado do Tratamento , Ultrassonografia Pré-NatalRESUMO
OBJECTIVE: To assess the diagnostic accuracy and show the prognostic influence of different ultrasonographic criteria in triplet pregnancies(TP). DESIGN: Retrospective study. SETTING: Tertiary care center in France. POPULATION: Fifty-one consecutive TP in which at least one of the children, live- or stillborn, weighed 500 g or more, and with a gestation period of at least 22 weeks. METHODS: Chorionicity, abnormal umbilical artery Doppler waveforms, intrauterine weight (IUW) <10th centile and prenatal diagnosis of fetal anomaly were studied simultaneously as prognostic criteria. Chorionicity was confirmed at birth by placental pathology. MAIN OUTCOME MEASURES: Diagnosis of chorionicity/amnionicity and IUW <10th centile. Neonatal intensive care unit admission, occurrence of respiratory distress syndrome and perinatal mortality. RESULTS: Prenatal misclassification of chorionicity/amnionicity after postnatal perinatal pathology review was 12%. The positive predictive value of IUW <10th centile diagnosis was 44% for the prediction of birthweight <10th centile. Prenatal diagnosis of mono- or dichorionic placentation was associated with increased neonatal morbidity in comparison with that of trichorionic triplets. Perinatal mortality was significantly increased where mono- or dichorionic placentation was diagnosed prenatally (OR: 4.2; CI: 1.04-17), IUW <10th centile (OR: 10; CI: 2.4-41), with raised odds for abnormal umbilical Doppler measurements (OR: 9.7; CI: 2-47) and fetal anomaly (OR: 6.4; CI: 1.4-28.9). CONCLUSION: Early prenatal diagnosis of chorionicity is of major importance in triplet pregnancy. Experienced sonographers must quickly evaluate any uncertain diagnosis. In cases of unknown chorionicity, other ultrasonographic criteria can highlight high-risk triplet pregnancy, but at a later stage.
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Córion/diagnóstico por imagem , Morte Fetal/diagnóstico por imagem , Retardo do Crescimento Fetal/diagnóstico por imagem , Feto/anormalidades , Trigêmeos , Ultrassonografia Pré-Natal/métodos , Peso ao Nascer , Feminino , Morte Fetal/etiologia , Retardo do Crescimento Fetal/etiologia , Idade Gestacional , Humanos , Gravidez , Resultado da Gravidez , Gravidez Múltipla , Prognóstico , Estudos RetrospectivosRESUMO
PURPOSE: Management of posterior urethral valves is significantly modified by the prenatal diagnosis. Our aim was to assess long-term outcome of children with prenatally detected posterior urethral valves treated at our institution by primary valve ablation without routine urinary drainage or diversion. MATERIALS AND METHODS: A total of 79 cases of posterior urethral valves were detected prenatally at our hospital between 1987 and 2004. Of these cases 65 were managed postnatally, while pregnancy was terminated in 14. We studied the prenatal parameters of gestational age at diagnosis, renal parenchyma on ultrasound and amniotic fluid volume. Fetal urine was analyzed when indicated. Long-term outcome was assessed. RESULTS: Primary valve ablation was done in all cases except 2. Median followup was 6.8 years (range 1 to 14.3). At the end of followup there were 11 cases of renal failure (17%) with 5 detected before 24 weeks of gestation, 6 cases of oligohydramnios and 9 cases of abnormal parenchyma. Gestational age at diagnosis and oligohydramnios were statistically significant predictors of final renal outcome (p = 0.003 and p = 0.02, respectively), while renal parenchymal changes were not (p = 0.23). When fetal urinalysis detected good prognosis (12 cases) renal failure developed in none, compared to 2 of the 3 cases with a bad prognosis. Continence was achieved in 42 of 55 toilet trained children (76%), 3 had nocturnal enuresis and 10 (18%) were incontinent. CONCLUSIONS: Our long-term results of prenatally detected posterior urethral valves confirm that early valve ablation can be considered as the primary treatment in the majority of patients, without the need for preoperative drainage or diversion. Gestational age at diagnosis and volume of amniotic fluid are significant predictors of postnatal renal outcome.
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Uretra/anormalidades , Uretra/cirurgia , Seguimentos , Humanos , Recém-Nascido , Masculino , Fatores de Tempo , Resultado do Tratamento , Ultrassonografia Pré-Natal , Uretra/diagnóstico por imagem , Procedimentos Cirúrgicos Urológicos Masculinos/métodosRESUMO
Neonates with gastroschisis have perivisceritis resulting from contact between the bowel and amniotic fluid. Here, we characterized the mediators involved in this inflammatory process in humans and ewes, to find a reliable marker of this process. We have diagnosed 41 cases of gastroschisis since 1995. Amniotic fluid sampled for karyotyping between 15 and 32 wk of gestation was also used to assay cytokines and inflammatory proteins. The findings were compared with those in 93 age-matched controls. Amniotic fluid cells were analyzed by means of cytology. Histologic examination of the bowel was performed when neonatal appendectomy was performed. The findings were compared with those obtained in a ewe model of gastroschisis. In gastroschisis, amniotic total protein, IL-6, IL-8, and ferritin levels were significantly higher than in controls. Gastroschisis was associated with significantly higher cell counts (mainly mononuclear cells) in amniotic fluid. At birth, macrophages were abundant in the fibrous peel covering the bowel. Similar results were obtained in the ewe model. Gastroschisis may be associated with a subchronic inflammatory process of variable intensity. This inflammation is restricted to the bowel wall and involves inflammatory cells such as macrophages, which may secrete ferritin, neopterin, and calprotectin.
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Gastrosquise , Inflamação/metabolismo , Mucosa Intestinal , Intestinos , Líquido Amniótico/química , Líquido Amniótico/citologia , Animais , Feminino , Gastrosquise/imunologia , Gastrosquise/metabolismo , Gastrosquise/patologia , Idade Gestacional , Humanos , Mucosa Intestinal/metabolismo , Intestinos/citologia , Intestinos/imunologia , Intestinos/patologia , Gravidez , OvinosRESUMO
Congenital hyperthyroidism is less frequent than congenital hypothyroidism but its impact on growth and development can be as dramatic. The immune form of hyperthyroidism that is transmitted from a mother with Graves' disease to her foetus and then neonate is transient, but cases of persistent congenital hyperthyroidism had also been described, that can now be explained by molecular abnormalities of the thyrotropin receptor. The abundance of published data on the neonatal effects of maternal Graves' disease contrasts with the paucity of information on fetal effects. Recent studies showed that it is of utmost to scrutinize fetal thyroid by expert ultrasonographist and to have a team work with obstetricians and pediatric endocrinologists in pregnant women with Graves' disease. This allowed to accurately determine the fetal thyroid status and to adapt the treatment in the mothers successfully. Fetal hyperthyroidism does exist and needs an appropriate aggressive treatment. Clearly the fetus has become our patient!
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Doenças Fetais/etiologia , Hipertireoidismo/congênito , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/terapia , Humanos , Hipertireoidismo/diagnóstico , Hipertireoidismo/terapia , Recém-Nascido , Masculino , GravidezRESUMO
We report two cases of fetal inner ear abnormalities diagnosed by MRI. Cerebral MRI was performed on two fetuses, at 32 and 30 weeks gestation, following US that demonstrated multiple malformations suggestive of CHARGE syndrome in one fetus and ventriculomegaly and poor visibility of the posterior fossa in the other. MRI revealed vestibular hypoplasia and agenesis of the semicircular canals in one fetus and cystic cochleas, partial vermian agenesis and an occipital meningocele in the second fetus. Both pregnancies were terminated and there was good correlation between fetal MRI, ex utero CT and fetopathological findings. The inner ears should be carefully examined when performing fetal cerebral MRI because abnormalities of the inner ear may be associated with cerebral anomalies.
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Anormalidades Múltiplas/diagnóstico , Feto Abortado/diagnóstico por imagem , Encéfalo/anormalidades , Orelha Interna/anormalidades , Imageamento por Ressonância Magnética , Feto Abortado/patologia , Aborto Eugênico , Adulto , Orelha Interna/diagnóstico por imagem , Orelha Interna/patologia , Feminino , Humanos , Gravidez , Terceiro Trimestre da Gravidez , Diagnóstico Pré-Natal , Síndrome , Tomografia Computadorizada por Raios XRESUMO
A case of Aicardi-Goutières syndrome is described in a family with index cases. The diagnosis was made prenatally based on high fetal blood concentration of interferon alpha. The biological measurement could be of interest for further diagnosis of other cases.
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Sangue Fetal/metabolismo , Doenças Fetais/diagnóstico , Transtornos Heredodegenerativos do Sistema Nervoso/diagnóstico , Interferon-alfa/sangue , Diagnóstico Pré-Natal , Adulto , Biomarcadores/sangue , Biomarcadores/líquido cefalorraquidiano , Feminino , Humanos , Recém-Nascido , Interferon-alfa/líquido cefalorraquidiano , Gravidez , SíndromeRESUMO
OBJECTIVE: The junctional form of epidermolysis bullosa (EB) is a recessively inherited mechanobullous disease in which minimal trauma results in blister formation at the dermal-epidermal junction. A rare form associated with pyloric atresia (JEB-PA) is a severe clinical subtype leading to rapid demise after birth, thus justifying prenatal diagnosis. The case characterized by abnormal ultrasound findings at 35 weeks of gestation (gastric dilatation associated with polyhydramnios) of a patient with no family history is reported. METHOD: Postabortion skin biopsies were analyzed by immunofluorescence that revealed marked reduction of integrin alpha6beta4 in accordance with the diagnosis of JEB-PA. RESULTS: Amniotic fluid contained excess total protein (4 MoM), abnormally high AFP (20.4 MoM) related to skin lesions and abnormally elevated digestive enzyme suggestive of fetal vomiting of bile. The electrophoretic pattern of cholinesterases was unusual (additional slow band). Maternal serum AFP was 3.14 MoM and free beta-hCG 13.1 MoM. Because of these concomitant findings, JEB-PA was suspected. CONCLUSION: The case under study was atypical because of late clinical manifestations of the disease: polyhydramnios, gastric enlargement. As maternal serum AFP at 15 weeks may be normal, it was suggested that discovery of polyhydramnios during the second or the third trimester should prompt biochemical analysis of amniotic fluid, such as AFP and GGTP assay in all cases.
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Epidermólise Bolhosa Juncional/diagnóstico , Diagnóstico Pré-Natal , Adulto , Líquido Amniótico/química , Diagnóstico Diferencial , Epidermólise Bolhosa Juncional/complicações , Epidermólise Bolhosa Juncional/diagnóstico por imagem , Epidermólise Bolhosa Juncional/embriologia , Epidermólise Bolhosa Juncional/genética , Epidermólise Bolhosa Juncional/patologia , Feminino , Predisposição Genética para Doença , Humanos , Poli-Hidrâmnios/etiologia , Gravidez , Terceiro Trimestre da Gravidez , UltrassonografiaRESUMO
BACKGROUND: Fetuses from mothers with Graves' disease may experience hypothyroidism or hyperthyroidism due to transplacental transfer of antithyroid drugs (ATD) or anti-TSH receptor antibodies, respectively. Little is known about the fetal consequences. Early diagnosis is essential to successful management. We investigated a new approach to the fetal diagnosis of thyroid dysfunction and validated the usefulness of fetal thyroid ultrasonograms. METHODS: Seventy-two mothers with past or present Graves' disease and their fetuses were monitored monthly from 22 wk gestation. Fetal thyroid size and Doppler signals, and fetal bone maturation were determined on ultrasonograms, and thyroid function was evaluated at birth. Thyroid function and ATD dosage were monitored in the mothers. RESULTS: The 31 fetuses whose mothers were anti-TSH receptor antibody negative and took no ATDs during late pregnancy had normal test results. Of the 41 other fetuses, 30 had normal test results at 32 wk, 29 were euthyroid at birth, and one had moderate hypothyroidism on cord blood tests. In the remaining 11 fetuses, goiter was visualized by ultrasonography at 32 wk, and fetal thyroid dysfunction was diagnosed and treated; there was one death, in a late referral, and 10 good outcomes with normal or slightly altered thyroid function at birth. The sensitivity and specificity of fetal thyroid ultrasound at 32 wk for the diagnosis of clinically relevant fetal thyroid dysfunction were 92 and 100%, respectively. CONCLUSION: In pregnant women with past or current Graves' disease, ultrasonography of the fetal thyroid gland by an experienced ultrasonographer is an excellent diagnostic tool. This tool in conjunction with close teamwork among internists, endocrinologists, obstetricians, echographists, and pediatricians can ensure normal fetal thyroid function.
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Antitireóideos/uso terapêutico , Feto/fisiologia , Doença de Graves/tratamento farmacológico , Complicações na Gravidez/tratamento farmacológico , Glândula Tireoide/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Autoanticorpos/sangue , Feminino , Humanos , Imunoglobulinas Estimuladoras da Glândula Tireoide , Gravidez , Estudos Prospectivos , Receptores da Tireotropina/sangue , Glândula Tireoide/fisiologia , Tiroxina/sangueRESUMO
We report a 29-week male fetus with healthy consanguineous parents. He showed a severe sclerosing bone disorder affecting all skeletal elements, resulting in insufficient modeling, generalized densification, and fragility of the skeleton. This skeletal dysplasia was associated with an abnormal craniofacial development (hypertelorism, severe microretrognathia, cleft palate, absent epiglottis, reduced number, and mineralization of teeth buds) and abnormal terminal phalanges. Neuropathologic examination showed bilateral fronto-parietal cerebral polymicrogyria. This syndrome appears to represent a new variant of congenital sclerotic bone disorder of unknown origin. Autosomal recessive inheritance is possible.
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Anormalidades Múltiplas/patologia , Córtex Cerebral/anormalidades , Osteosclerose/patologia , Anormalidades Múltiplas/genética , Aborto Eugênico , Consanguinidade , Anormalidades Craniofaciais/patologia , Evolução Fatal , Feminino , Doenças Fetais/patologia , Dedos/anormalidades , Humanos , Cariotipagem , Masculino , Osteosclerose/congênito , Gravidez , Síndrome , Ultrassonografia Pré-NatalRESUMO
Horseshoe lung is a very rare pulmonary anomaly that is characterized by an isthmus of lung parenchyma bridging the right and left lungs and extending through the mediastinum. We report on the prenatal diagnosis of such a malformation in a 33-week-gestation fetus. The diagnosis was initially suspected on antenatal ultrasonography performed at 33 weeks and confirmed by fetal MRI and subsequent pathological examination after termination of pregnancy. To our knowledge, this is the first reported case of antenatal diagnosis of horseshoe lung.