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1.
J Clin Endocrinol Metab ; 93(6): 2223-9, 2008 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18364375

RESUMEN

OBJECTIVE: Familial partial lipodystrophy due to LMNA (lamin A/C) mutations is a rare disorder characterized by a selective loss of adipose tissue and insulin resistance. Dyslipidemia and severe diabetes often occur during its evolution. Only isolated and contradictory case reports have been published on the obstetrical prognosis in lipodystrophy. The aim of our study was to compare the fertility and occurrence of obstetrical complications of women with familial partial lipodystrophy due to LMNA (lamin A/C) mutations with those of nonaffected relatives, women from the general population, and women with polycystic ovary syndrome (PCOS). MATERIAL AND METHODS: Data were obtained from clinical follow-up of seven families with patients exhibiting mutations in LMNA (five R482W, one R482Q, one R439C) (14 affected among 48 women). RESULTS: The mean number of live children per woman was 1.7 in affected patients vs. 2.8 in nonaffected relatives. Fifty-four percent of LMNA-mutated women exhibited a clinical phenotype of PCOS, 28% suffered from infertility, 50% experienced at least one miscarriage, 36% developed gestational diabetes, and 14% experienced eclampsia and fetal death. Mean blood leptin level was significantly lower in LMNA-mutated patients than in nonaffected relatives (5.0 +/- 3.8 ng/ml vs 14.3 +/- 3.6; P < 0.001) despite similar body mass index (21.0 +/- 4.2 vs 22.4 +/- 2.2; P = 0.49). CONCLUSION: In these LMNA-linked lipodystrophic patients, the prevalence of PCOS, infertility, and gestational diabetes was higher than in the general population. Moreover, the prevalence of gestational diabetes and miscarriages was higher in lipodystrophic LMNA-mutated women than previously reported in PCOS women with similar body mass index. Women with lipodystrophies due to LMNA mutations are at high risk of infertility, gestational diabetes, and obstetrical complications and require reinforced gynecological and obstetrical care.


Asunto(s)
Fertilidad/fisiología , Infertilidad Femenina/epidemiología , Lamina Tipo A/genética , Lipodistrofia Parcial Familiar/epidemiología , Complicaciones del Embarazo/epidemiología , Adulto , Estudios de Casos y Controles , Estudios Transversales , Diabetes Gestacional/epidemiología , Familia , Femenino , Estudios de Seguimiento , Humanos , Infertilidad Femenina/genética , Lipodistrofia Parcial Familiar/sangre , Lipodistrofia Parcial Familiar/complicaciones , Lipodistrofia Parcial Familiar/genética , Mutación , Síndrome del Ovario Poliquístico/sangre , Síndrome del Ovario Poliquístico/genética , Embarazo , Complicaciones del Embarazo/etiología , Complicaciones del Embarazo/genética , Estudios Retrospectivos
2.
Growth Horm IGF Res ; 17(2): 130-6, 2007 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-17306581

RESUMEN

OBJECTIVES: Fetal macrosomia is a common complication of maternal diabetes mellitus and is associated with substantial morbidity, but the precise cellular and molecular mechanisms that induce fetal macrosomia are not well understood. The imprinted genes IGF-II and H19 are crucial for placental development and fetal growth. The term placentas from diabetic pregnancies express more insulin-like growth factor II (IGF-II) than those from normal pregnancies. Deregulation of their imprinting status is observed in the macrosomia-associated syndrome, the Beckwith-Wiedemann syndrome. The aim of this study was to determine whether loss of imprinting hence biallelic expression was also a hallmark of macrosomia in diabetic pregnancies. DESIGN AND METHODS: IGF-II and H19 maternal and paternal expressions were studied in placentas from two groups of type 1 diabetic mothers: one with macrosomic babies and the other with babies of normal weight. Maternal or paternal allele specific expressions were defined by using DNA polymorphic markers of the IGF-II and H19 genes. RFLP analysis was performed on PCR products from genomic DNA of the father, the mother and the child, and on RT-PCR products from placental mRNA. RESULTS: RFLP analysis showed that the IGF-II gene remains paternally expressed and the H19 gene remains maternally expressed in all placentas examined, independently of the birth weight status. CONCLUSIONS: These results suggest that, in contrast with Beckwith-Wiedemann syndrome-associated macrosomia, loss of imprinting for IGF-II or H19 is not a common feature of diabetic pregnancies associated with macrosomia.


Asunto(s)
Diabetes Mellitus Tipo 1/metabolismo , Macrosomía Fetal/genética , Impresión Genómica , Factor II del Crecimiento Similar a la Insulina/genética , Placenta/metabolismo , Embarazo en Diabéticas/metabolismo , ARN no Traducido/genética , ADN/análisis , Diabetes Mellitus Tipo 1/genética , Femenino , Humanos , Recién Nacido , Factor II del Crecimiento Similar a la Insulina/metabolismo , Placenta/química , Embarazo , Embarazo en Diabéticas/genética , ARN Largo no Codificante , ARN Mensajero/análisis , ARN Mensajero/metabolismo , ARN no Traducido/metabolismo , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa
3.
Gynecol Obstet Fertil ; 35(3): 199-204, 2007 Mar.
Artículo en Francés | MEDLINE | ID: mdl-17306591

RESUMEN

OBJECTIVES: Our purpose was to study a non-invasive management of fetomaternal alloimmune thrombocytopenia (FMAIT). PATIENTS AND METHODS: Between 1996 and 2005, 18 women were treated. The population was divided into 2 groups: patients with a history of intracranial haemorrhage (ICH) in the older sibling received weekly intravenous immunoglobulin (IVIG) therapy to the mother (1 g/kg per week) without initial cordocentesis whereas patients with a history of neonatal thrombocytopenia did not undergo any treatment. RESULTS: All pregnancies with a previous FMAIT were monitored with serial ultrasound scans without cordecentesis. 15 patients had HPA-1, 2 HPA-3 and 1 HPA-5 immunizations. Weekly intravenous immunoglobulin therapy was administered in 5 patients with a history of ICH in the older sibling. Two of these delivered thrombocytopenic children; one had a platelet count < 50 x 10(9)/l. For the 13 women (one twin) who had a sibling with neonatal thrombocytopenia, 11/14 newborns had a platelet count < 50 x 10(9)/l. Predelivery fetal blood sampling were performed in 8/18 pregnancies. The neonatal periods of the 19 children were uncomplicated and no ICHs were observed. DISCUSSION AND CONCLUSION: Our results suggest that a non-invasive strategy avoiding serial cordocentesis may be an effective therapy in patients who are at risk of fetal and neonatal alloimmune thrombocytopenia.


Asunto(s)
Enfermedades Fetales/tratamiento farmacológico , Inmunoglobulinas Intravenosas/uso terapéutico , Trombocitopenia/tratamiento farmacológico , Adulto , Cordocentesis , Femenino , Sangre Fetal/citología , Enfermedades Fetales/inmunología , Humanos , Recién Nacido , Hemorragias Intracraneales/etiología , Hemorragias Intracraneales/prevención & control , Masculino , Intercambio Materno-Fetal , Embarazo , Resultado del Embarazo , Factores de Riesgo , Trombocitopenia/complicaciones , Trombocitopenia/inmunología , Resultado del Tratamiento
4.
Ann Biol Clin (Paris) ; 63(1): 67-73, 2005.
Artículo en Francés | MEDLINE | ID: mdl-15689314

RESUMEN

Congenital toxoplasmosis results from foetus contamination by Toxoplasma gondii during pregnancy. It is a frequent and severe condition calling for close monitoring of mothers at risk. During the last decades, numerous advances have been made specially in the antenatal diagnosis. The congenital toxoplasmosis diagnosis relies currently on PCR test of amniotic fluid, with a sensitivity of 80%. More recently, real-time quantitative PCR has been developed to improve toxoplasmosis diagnosis. We therefore compared the diagnosis value of quantitative real-time PCR with our conventional PCR-hybridization for the diagnosis of congenital toxoplasmosis.


Asunto(s)
Reacción en Cadena de la Polimerasa/métodos , Toxoplasma/aislamiento & purificación , Toxoplasmosis Congénita/diagnóstico , Líquido Amniótico/parasitología , Animales , Secuencia de Bases , ADN Protozoario/genética , ADN Protozoario/aislamiento & purificación , Femenino , Humanos , Datos de Secuencia Molecular , Embarazo , Complicaciones Parasitarias del Embarazo , Diagnóstico Prenatal , Toxoplasma/genética , Toxoplasmosis Congénita/transmisión
5.
J Gynecol Obstet Biol Reprod (Paris) ; 34(2): 137-47, 2005 Apr.
Artículo en Francés | MEDLINE | ID: mdl-16108110

RESUMEN

OBJECTIVES: Prenatal diagnosis of a limb reduction defect poses difficult medical and ethical problems. Prenatal diagnosis can be at the origin of two opposing medical attitudes, either a medical termination of pregnancy, or the specific management of the child at birth. The objective is to carry out an enquiry of practices and to determine whether there is a threshold in the gravity of the malformation from which the medical termination of pregnancy is accepted. MATERIAL AND METHOD: The study was carried out by a questionnaire addressed to the members of the French-speaking Club of Fetal Medicine. RESULTS: Outcome of 103 fetuses with limb reduction defect was described. Prenatal diagnosis and management of observed malformations were explained. CONCLUSION: Decisions concerning the outcome of the pregnancy are very variable from one couple to another and from one medical team to another. Parents making a request must be given complete information and accompanying psychological support. Collegial with a multidisciplinary team is necessary. For the parents, it is the physician's duty to avoid judgement errors related to anxiety and ignorance of the medical consequences. The physician should guide the parents towards the continuation of the pregnancy or its interruption. The proper decision proceeds from the reunion of the confidence of the couple and the conscience of the physician.


Asunto(s)
Deformidades Congénitas de las Extremidades , Aborto Inducido/ética , Adulto , Femenino , Francia , Humanos , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/terapia , Embarazo , Estudios Retrospectivos , Encuestas y Cuestionarios , Ultrasonografía Prenatal
6.
Am J Med Genet ; 80(4): 429-34, 1998 Dec 04.
Artículo en Inglés | MEDLINE | ID: mdl-9856577

RESUMEN

We describe two female fetuses conceived by a nonconsanguineous couple. The pregnancies were interrupted at 31 and 26 weeks of gestation, respectively, because of severe microcephaly. Postmortem X-ray and autopsy studies showed in both fetuses: 1) severe intrauterine growth retardation; 2) facial anomalies characterized by severe microcephaly, sloping forehead, low set and posteriorly angulated ears, prominent eyes, down-slanting palpebral fissures, large nose, small mouth with full lips, and mild microretrognathia; 3) severe brain hypoplasia that was more pronounced in the second fetus; 4) severe rib hypoplasia with posterior rib-gap defects and in case 2 hypoplasia of several bones (right clavicle, right radius and ulna, several phalanges of hands and feet); 5) contracture at large joints. No other visceral malformations were observed, and chromosomes were normal in patient 2 and parents. This phenotype has some similarities with different syndromic entities but an identical malformation syndrome seems not to have been described previously. Autosomal recessive inheritance is the most likely cause of this putative "new syndrome."


Asunto(s)
Enfermedades del Desarrollo Óseo/patología , Enfermedades Fetales/patología , Genes Recesivos , Microcefalia/patología , Costillas/patología , Aborto Inducido , Adulto , Enfermedades del Desarrollo Óseo/genética , Huesos/embriología , Huesos/patología , Femenino , Feto , Humanos , Microcefalia/genética , Embarazo , Costillas/embriología , Síndrome
7.
Eur J Obstet Gynecol Reprod Biol ; 34(1-2): 59-65, 1990.
Artículo en Inglés | MEDLINE | ID: mdl-2303152

RESUMEN

127 infants were born alive before the 32nd week of gestation in the H. Salengro obstetrical unit from the University Hospital of Lille from January 1980 to December 1985. During this period the annual number of deliveries was constant, 2700. Two periods were considered, 1980-1982 and 1983-1985. The number of such premature infants increased slightly: from 56 to 71. The most striking feature was the dramatic increase in infants born after induction of delivery for fetal reasons. Another finding is the statistically significant lowering of gestational age and birthweight of the spontaneously born infants. These trends counterweight the efficacy of the policy of prevention. When considering the morbidity and the mortality, hyaline membrane disease still plays a preeminent role in this population.


Asunto(s)
Recién Nacido de Bajo Peso , Recien Nacido Prematuro , Femenino , Francia , Humanos , Enfermedad de la Membrana Hialina/epidemiología , Mortalidad Infantil , Recién Nacido , Embarazo , Tercer Trimestre del Embarazo , Estudios Retrospectivos
8.
Rev Med Interne ; 23(7): 607-21, 2002 Jul.
Artículo en Francés | MEDLINE | ID: mdl-12162216

RESUMEN

PURPOSE: Pregnancy in a patient with systemic sclerosis (SSc) may pose a double problem to the medical team: influence of SSc on pregnancy and consequences of pregnancy to SSc manifestations. CURRENT KNOWLEDGE AND KEY POINTS: Concepts have evolved. SSc was considered for a long time not only as not very propitious for pregnancy but also as a strict contraindication for procreation because risks for the mother and the baby were thought to be major. Currently, fertility is thought to be normal. Miscarriages and small-for-gestation age infants rate do not seem to be higher in SSc. Maternal and perinatal mortality is also not higher in SSc without severe visceral manifestations, i.e. without either pulmonary hypertension, or cardiac or respiratory insufficiency. Conversely, there is a significantly higher frequency of premature infants in SSc. As regards influence of pregnancy on SSc, the greatest fear is the occurrence of renal crisis, which may be life threatening for both mother and child. Each elevation of blood pressure, even if this increase is mild, should be considered as potentially very serious. However, pregnancy itself does not seem to increase the risk of renal crisis. Consequences of pregnancy to SSc manifestations are various but usually mild. FUTURE PROSPECTS AND PROJECTS: SSc is not a strict contraindication for pregnancy only if severe organ involvement, diffuse subset of SSc or recent onset of the disease has been ruled out. Physicians should be aware of specific problems, which SSc is possibly posing during pregnancy. Finally, it has been recently suggested that pregnancies could be involved in the pathogenesis of SSc through persisting microchimerism of fetal origin.


Asunto(s)
Complicaciones del Embarazo , Esclerodermia Sistémica/complicaciones , Enfermedad Aguda , Adulto , Femenino , Humanos , Recién Nacido , Recien Nacido Prematuro , Infertilidad Femenina/etiología , Enfermedades Renales/etiología , Embarazo , Resultado del Embarazo , Índice de Severidad de la Enfermedad
9.
Gynecol Obstet Fertil ; 29(11): 808-13, 2001 Nov.
Artículo en Francés | MEDLINE | ID: mdl-11770274

RESUMEN

OBJECTIVE: To estimate the performance of the foetal fibronectin test as a predictor of preterm delivery. PATIENTS AND METHODS: This prospective study concern 61 patients who had a singleton pregnancy between 24 and 36 weeks of gestation and were hospitalized because of a threatened preterm labor without premature rupture of the membranes. For each patient the presence of foetal fibronectin in cervicovaginal secretions was determined with a rapid swab-test. RESULTS: Prematurity rate was 38% (23 patients). In case of positive result, delivery became before 37 weeks in 75% (12/16) against 24% in case of negative result (11/45). The prolongation of pregnancy after the test was on average 21 days in the positive group and 44 days in the negative group. About the prediction of preterm delivery, the results showed a sensibility of 52%, a specificity of 89%, a positive predictive value of 75%, a negative predictive value of 76%. To predict a delivery within the two weeks after the test, the sensibility was 88%, the specificity 83%, and the negative predictive value 98%. CONCLUSION: The presence of foetal fibronectin in cervicovaginal secretions represent an increased risk of preterm delivery, whereas its excellent negative predictive value allow to be reassuring, especially within a period of 15 days.


Asunto(s)
Fibronectinas , Glicoproteínas/análisis , Trabajo de Parto Prematuro/diagnóstico , Adulto , Cuello del Útero/metabolismo , Femenino , Edad Gestacional , Humanos , Embarazo , Estudios Prospectivos , Sensibilidad y Especificidad , Vagina/metabolismo
10.
Gynecol Obstet Fertil ; 28(10): 729-37, 2000 Oct.
Artículo en Francés | MEDLINE | ID: mdl-11244635

RESUMEN

From October 1993 to February 1998, 33 cases of fetal cardiac arrhythmia were investigated by doppler-echocardiography at the Lille infantile and congenital cardiology department. Extrasystolic arrhythmias were the most frequently encountered disorder (25 fetuses, i.e., 76% of cases: 24 instances of extrasystolic auricular arrhythmia and one case of extrasystolic ventricular arrhythmia). They were invariably benign, and apart from one case only required standard monitoring. Tachycardia was observed in 15% of cases (three cases of supraventricular tachycardia [SVT] and two cases of auricular flutter [AF]). In no instance was a cardiopathic syndrome noted. A number of efficient treatments have been described, but the prognosis is often poor in the presence of hydrops fetalis. Direct fetal treatments (cordocentesis) are currently under evaluation, and at present can only be used as a last resort. In our series, one fetus died 15 minutes after transplacental Flecaine (flecainide) administration. Two of the three SVT and the two AF cases were successfully treated. Bradycardia, which was unassociated with extrasystolic arrhythmia, was found in 9% of cases. It is concluded that Flecaine is probably the treatment of choice for supraventricular and ventricular fetal tachycardia, as it has no teratogenic effect and crosses the placenta at a fetal concentration that is 80% of the maternal level. However, the administration of this drug is not without risk. It is known to possess certain negative side effects, and its pharmacological profile and maternal and fetal health risks have not yet been fully investigated. At present, no entirely safe and efficient treatment for fetal cardiac arrhythmia has been found.


Asunto(s)
Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/terapia , Enfermedades Fetales/diagnóstico , Enfermedades Fetales/terapia , Antiarrítmicos/administración & dosificación , Antiarrítmicos/efectos adversos , Antiarrítmicos/uso terapéutico , Bradicardia/diagnóstico , Bradicardia/terapia , Complejos Cardíacos Prematuros/diagnóstico , Complejos Cardíacos Prematuros/terapia , Ecocardiografía Doppler , Femenino , Flecainida/administración & dosificación , Flecainida/efectos adversos , Flecainida/uso terapéutico , Humanos , Hidropesía Fetal/complicaciones , Embarazo , Pronóstico , Estudios Retrospectivos , Taquicardia/diagnóstico , Taquicardia/terapia
11.
J Radiol ; 83(6 Pt 1): 723-30, 2002 Jun.
Artículo en Francés | MEDLINE | ID: mdl-12149589

RESUMEN

OBJECTIVE: To evaluate MRI usefulness in diagnosis and management of fetuses with cerebral ventriculomegaly at US. PATIENTS AND METHODS: Sonography depicted cerebral ventriculomegaly in 61 fetuses. Management included MRI in all cases and infectious screening, and karyotype in 51 cases. Final diagnosis was supported by fetal autopsy (n=24), postnatal follow-up>6 months (n=19), infectious screening or karyotype (n=8), and MR imaging when diagnosis was obvious (n=16). RESULTS: MRI was more informative than ultrasonography in 32.8% of cases with identification of the etiology in 21.3% of cases. In 45% MRI and sonography were considered to be normal. In the remaining cases, MRI confirmed the ultrasound diagnosis of cerebral malformation. Ultrasonography never depicted more anomalies than MR imaging. The 2 false negatives were gyration disorders but MR imaging was performed too early. CONCLUSION: US is the imaging modality of choice in the evaluation of fetal anomalies but MRI has to be systematically performed in case of cerebral ventriculomegaly because MRI demonstrates its usefulness in patient counseling, even if there are a few false negative results.


Asunto(s)
Ventrículos Cerebrales/anomalías , Enfermedades Fetales/diagnóstico , Imagen por Resonancia Magnética/normas , Aborto Terapéutico , Adolescente , Adulto , Autopsia , Reacciones Falso Negativas , Femenino , Enfermedades Fetales/etiología , Enfermedades Fetales/terapia , Asesoramiento Genético , Humanos , Hipertrofia , Cariotipificación , Tamizaje Masivo , Selección de Paciente , Embarazo , Estudios Retrospectivos , Factores de Tiempo , Ultrasonografía Prenatal/normas
12.
Arch Pediatr ; 4(10): 940-6, 1997 Oct.
Artículo en Francés | MEDLINE | ID: mdl-9436490

RESUMEN

BACKGROUND: The survival of T gondii bradyzoites in cysts explains clinical recurrences and serological rebounds after birth in children with congenital toxoplasmosis. At the present time, management of such manifestations is not well defined. PATIENTS AND METHODS: Sixty-three infants with congenital toxoplasmosis were followed-up at the University Hospital of Lille (France) during the first two years of life. For each child, the treatment before and after birth was well defined. Clinical, ophthalmological, radiological and serological data were collected every third month. Serological assays specially adapted to this age bracket were used for the quantification of specific IgG, or for the detection of T gondii specific IgM and IgA. RESULTS: Seventy-six serological rebounds were reported in 55 of the 63 children (87%). They concerned essentially IgG (96%) and less frequently IgM (47%) or IgA (60%). At the same time, only five clinical recurrences were observed, four of them being preceded by a serological rebound. DISCUSSION: Treatment of fetuses or children with pyrimethamine and sulfonamides versus spiramycin alone was associated with a decrease in the frequency of serological rebounds during the first year of life (P < 0.001). Such a therapeutic regimen during the second year of life decreases the appearance of serological rebounds in children without rebound antecedent (P < 0.001). CONCLUSION: The increase in number of rebounds after the end of a course of pyrimethamine and sulfonamides necessitates the evaluation of such a long term treatment without interruption.


Asunto(s)
Toxoplasmosis Congénita/complicaciones , Preescolar , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Inmunoglobulina A/sangre , Inmunoglobulina G/sangre , Inmunoglobulina M/sangre , Vigilancia Inmunológica , Lactante , Recién Nacido , Embarazo , Complicaciones Parasitarias del Embarazo/tratamiento farmacológico , Toxoplasmosis/tratamiento farmacológico , Toxoplasmosis Congénita/tratamiento farmacológico , Toxoplasmosis Congénita/inmunología
13.
J Gynecol Obstet Biol Reprod (Paris) ; 29(5): 445-53, 2000 Sep.
Artículo en Francés | MEDLINE | ID: mdl-11011273

RESUMEN

OBJECTIVE: To evaluate the interest and to compare the major echographic signs of Down syndrome in the second trimester of pregnancy. METHODS: A bibliographic research has been performed for most of the echographic signs known and studied until now. For each study and in average for each sign, we have computed its sensitivity, its specificity, its positive and negative predictive values using the results of the different authors. Then, we have compared the benefits/risk ratio for each of these signs: the number of Down syndrome cases detected versus healthy fetus lost due to amniocentesis complications. RESULTS: The different signs can be ranked according to their benefits/risk ratio from top to bottom as follows: nuchal skinfold thickness, wide space between first and second toe, pyelectasis, large iliac angle, short humerus, short femur, hypoplasia of the middle phalanx of the fifth digit. CONCLUSION: These results suggest that second trimester echographic signs of Down syndrome must be evaluated as a function of the Down syndrome risk in the population under study. The presence of these signs does not always justify an amniocentesis; it should lead to a re-evaluation of the individual risk of a Down syndrome (a chart is given to guide this re-evaluation).


Asunto(s)
Síndrome de Down/diagnóstico por imagen , Ultrasonografía Prenatal , Femenino , Fémur/diagnóstico por imagen , Fémur/embriología , Dedos/diagnóstico por imagen , Dedos/embriología , Humanos , Húmero , Ilion/diagnóstico por imagen , Ilion/embriología , Cuello/diagnóstico por imagen , Cuello/embriología , Embarazo , Segundo Trimestre del Embarazo
14.
Artículo en Francés | MEDLINE | ID: mdl-9265063

RESUMEN

OBJECTIVES: The aim of this study was to establish the panorama of uropathies discovered during the antenatal period and to analyze the explorations performed. Pregnancy outcome and infant prognosis was also recorded. METHOD: Ultrasonographic imaging revealed dilatation in 62.5% of the cases, parenchymal anomalies in 26.3% and unilateral or bilateral agenesia in 11.2%. The percentage of abnormal karyotypes was 4.76% for all urorenal symptomatologies. These abnormal karyotypes corresponded to 10% of those performed in 17 fetuses, urine puncture was used in order to assess in utero renal function. There were 113 live births, 31 medically termined pregnancies and 3 spontaneous abortions. Among the 113 live infants, 12 died during the post-natal period. Thirty-two infants were considered to be normal and 69 had an urorenal malformation, including 2 infants with pre-end-stage renal failure at 4 and 3 years. CONCLUSION: It is uncommon to discover an urorenal malformation at prenatal ultrasonography. The main problem is antenatal management and evaluation of prognosis. Urine puncture and in utero derivation are discussed. When no other reliable factors affecting fetal prognosis are available, puncture of fetal urine provides useful information for management although the technique remains under debate.


Asunto(s)
Ultrasonografía Prenatal , Sistema Urinario/anomalías , Aborto Terapéutico , Anomalías Congénitas/diagnóstico por imagen , Anomalías Congénitas/genética , Anomalías Congénitas/orina , Femenino , Humanos , Recién Nacido , Cariotipificación , Embarazo , Resultado del Embarazo , Pronóstico , Estudios Retrospectivos
15.
J Gynecol Obstet Biol Reprod (Paris) ; 27(2): 144-9, 1998 Mar.
Artículo en Francés | MEDLINE | ID: mdl-9599760

RESUMEN

OBJECTIVE: We propose to specify the different criteria of estimation and management in presence of a ultrasound discovery of a choroid plexus cyst. METHOD: A detailed review of the literature about this subject allowed to better apprehend the different attitudes taken up by the authors. RESULTS: Fetal choroid plexus cysts (CPC) are potentially useful markers for trisomy 18 in as much as they are present in about 50% of affected fetuses and they are easily seen in the standard biparietal diameter view which is obtained for all routine ultrasound scans. However, advice is contradictory as to whether karyotyping should be proposed for all fetuses (1-2% of the population) where fetal CPC are diagnosed. CONCLUSION: The review of the literature show that the majority of the authors advocate amniocentesis when the CPC is associated with another ultrasound abnormality. Isolated, it imposes regular and meticulous morphologic ultrasound supervision to search for another possible associated ultrasound abnormality, if necessary, in a prenatal diagnosis center.


Asunto(s)
Encefalopatías/diagnóstico por imagen , Plexo Coroideo , Cromosomas Humanos Par 18 , Quistes/diagnóstico por imagen , Trisomía , Ultrasonografía Prenatal , Amniocentesis , Encefalopatías/complicaciones , Quistes/complicaciones , Humanos , Incidencia , Cariotipificación
16.
J Gynecol Obstet Biol Reprod (Paris) ; 27(1): 35-43, 1998 Jan.
Artículo en Francés | MEDLINE | ID: mdl-9583043

RESUMEN

Triploidies are pregnancies that show a 69 chromosome karyotype. This chromosomal abnormality gives rise to early abortion in most cases. Triploid pregnancies, after the first three months, become molar pregnancies (molar changes inside the placenta with identifiable embryonic structures and a preeclampsia) or non molar pregnancies (isolated intauterin growth retardation). Several possibilities concerning the origin of the additional set of chromosomes exist: dispermy (the most common), diandry and digyny. The maternal and fetal clinical manifestations of this chromosomal abnormality are very diverse, which explains the difficulty of finding and recognizing this pathology. Mac Fadden's classification does not explain all the phenotypic triploid physiopathology. Formal diagnosis of triploidy depends on the fetal karyotype. The better the maternal prognosis is, the worst the fetal prognosis is. Postnatal life expectancy is not more than a few weeks. In most cases, maternal associated complications disappear with the molar evacuation. The risk of post molar tumor is discussed. However, good management of triploidy is based on an early diagnosis, before birth if that is possible.


Asunto(s)
Aborto Espontáneo/genética , Aberraciones Cromosómicas/diagnóstico , Retardo del Crecimiento Fetal/genética , Mola Hidatiforme/genética , Poliploidía , Diagnóstico Prenatal/métodos , Aberraciones Cromosómicas/epidemiología , Trastornos de los Cromosomas , Femenino , Humanos , Cariotipificación , Embarazo , Pronóstico
17.
J Gynecol Obstet Biol Reprod (Paris) ; 27(3): 290-7, 1998 Apr.
Artículo en Francés | MEDLINE | ID: mdl-9648007

RESUMEN

We reviewed the literature on ultrasonographic criteria allowing prenatal diagnosis of chromosome aberrations, especially the most frequent: trisomy. Signs vary depending on the term of the ultrasound examination (first trimester ultrasound is often performed to early and several signs are observed in the second trimester). During the first trimester, the main criteria is the diagnosis of nuchal clearness 3 mm. The distance can only be measured with an appropriate sagittal CRL section by an experienced operator. The ideal term of this morphology ultrasound is 10 weeks gestation. During the second trimester, there are many suggestive criteria including non-specific signs: anomalous quantity of amniotic fluid, short femur, nuchal thickness 6 mm, isolated anomaly of the umbilical velocimetry, pyelectasy and fetal malformations (mainly cerebral or abdominal, including ophalocele and diaphragmatic hernia, anomalies, abnormal heart anatomy, cystic hygroma, facial anomalies and malformations of the members, often abnormal flexion of the hands).


Asunto(s)
Aberraciones Cromosómicas/diagnóstico por imagen , Ultrasonografía Prenatal , Velocidad del Flujo Sanguíneo , Aberraciones Cromosómicas/patología , Aberraciones Cromosómicas/fisiopatología , Trastornos de los Cromosomas , Femenino , Fémur/patología , Humanos , Cuello/patología , Embarazo , Primer Trimestre del Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Arterias Umbilicales
18.
J Gynecol Obstet Biol Reprod (Paris) ; 28(6): 538-43, 1999 Oct.
Artículo en Francés | MEDLINE | ID: mdl-10598347

RESUMEN

OBJECTIVE: To value the rate of chromosomal abnormalities and evolution of children who had a prenatal diagnosis of fetal nuchal translucency in the first trimester. MATERIAL AND METHODS: Multicenter prospective study conducted in 4,582 patients who had a first ultrasonography between 10 and 14 weeks' gestation (abdominal and/or transvaginal sonography). The measurement of fetal nuchal translucency was performed by mid-sagittal section and when it was higher than 2.5 mm a fetal karyotype was made. RESULTS: Three hundred and fifty eight nuchal translucencies (> 2.5 mm) were diagnosed and 334 karyotypes were done. We found 25 chromosomal anomalies (7.4%): 14 trisomies 21; 7 trisomies 18; 2 trisomies 13; one triploidy and one trisomy X. The postnatal examination of children detected three congenital malformations (0.9%): one facial dysmorphia, one complex abnormal heart anatomy and one renal agenesia. CONCLUSION: Nuchal translucency (> 2.5 mm) is therefore a sonography sign associated with 7.4% of chromosomal anomalies. The distribution by size and mother ages is low. It should need superior larger-scale studies are needed for representative data. But this study shows that if fetal karyotype is normal, the incidence of congenital malformations seems to be the same by comparison with the general population.


Asunto(s)
Aberraciones Cromosómicas , Anomalías Congénitas/diagnóstico , Cuello/diagnóstico por imagen , Diagnóstico Prenatal , Ultrasonografía Prenatal , Huesos Faciales/anomalías , Femenino , Cardiopatías Congénitas/diagnóstico , Humanos , Cariotipificación , Riñón/anomalías , Embarazo , Estudios Prospectivos , Trisomía
19.
Artículo en Francés | MEDLINE | ID: mdl-9026514

RESUMEN

The May-Hegglin anomaly is a rare autosomal dominant platelet disorder characterized by thrombocytopenia, giant platelets and existence of crescent-shaped inclusions within the cytoplasm of granulocytes, eosinophils and monocytes (Döhle body). We report a case of May-Hegglin anomaly associated with a pregnancy. The pregnancy and delivery were uneventful. The child is not a carrier of this hematologic anomaly. Nine cases of complicated pregnancies with this anomaly have been reported in the literature. The risks of maternal hemorrhagic accident during pregnancy and during delivery are weak due to the fact that platelets functions are preserved. The same applies to the fetus. Nevertheless, as in the case of maternal autoimmune thrombocytopenic purpura, most reports advice performing a fetal platelet count on fetal blood sampling before birth to decide upon the mode of delivery. The risk of the cordonal approach to perform fetal blood sampling must be balanced against the small fetal hemorrhagic risk and most authors propose to allow normal delivery whilst avoiding all traumatic instrumental extraction, especially the use of vacuum extractor.


Asunto(s)
Plaquetas/patología , Gránulos Citoplasmáticos/patología , Granulocitos/patología , Monocitos/patología , Complicaciones Hematológicas del Embarazo , Trombocitopenia/genética , Adulto , Femenino , Sangre Fetal , Genes Dominantes , Humanos , Embarazo , Complicaciones Hematológicas del Embarazo/sangre , Resultado del Embarazo , Trombocitopenia/sangre
20.
J Gynecol Obstet Biol Reprod (Paris) ; 31(6 Suppl): 4S3-4S10, 2002 Oct.
Artículo en Francés | MEDLINE | ID: mdl-12451352

RESUMEN

During pregnancy, a number of maternal metabolic changes occur early and continue throughout pregnancy which help optimize the transfer of nutrients to the fetus. During normal pregnancy, there are a decrease in insulin sensibility which is physiological, progressive and reverse. For glucose tolerance to be maintained in pregnancy it is necessary for maternal insulin secretion to increase sufficiently to counteract the fall in insulin sensitivity. The metabolic characteristic of women with gestational diabetes is insufficient insulin secretion to counteract the pregnancy related fall in insulin sensitivity. There are a lot of factors that could explain the mechanism of insulin secretion and insulin sensitivity during normal pregnancy and gestational diabetes mellitus. Although glucose tolerance normalizes shortly after pregnancy with gestational diabetes in the majority of women, the risk of developing overt diabetes, especially type 2 diabetes is markedly increased. The mechanisms which could explain gestational diabetes are the same as type 2 diabetes mellitus. We could speculate that these two diseases are identical for alterations in carbohydrate metabolism, but at different stages.


Asunto(s)
Diabetes Gestacional/fisiopatología , Femenino , Humanos , Insulina/metabolismo , Resistencia a la Insulina , Secreción de Insulina , Leptina , Embarazo
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