Cases reported "Fetal Diseases"

Filter by keywords:



Filtering documents. Please wait...

1/106. trisomy 10: first-trimester features on ultrasound, fetoscopy and postmortem of a case associated with increased nuchal translucency.

    We report a case of the prenatal diagnosis of trisomy 10 in a fetus presenting with an increased nuchal translucency thickness (5 mm) on a routine first-trimester anomaly scan at 12 weeks' gestation. Multiple abnormalities were diagnosed by ultrasound and fetoscopy. karyotyping on chorionic villus sampling led to the diagnosis of homogeneous trisomy 10 which was confirmed by in situ hybridization on fetal tissue samples. Postmortem examination confirmed major anatomical malformations, including facial cleft, arthrogryposis of the upper and lower limbs and bilateral diaphragmatic hernia, and also revealed hypoplastic lungs, right renal agenesis and a complex cardiac malformation. trisomy 10 is an uncommon chromosomal abnormality that is likely to be associated with increased fetal nuchal translucency. This case also emphasizes the value of a detailed anomaly scan in high-risk patients in the first trimester of pregnancy.
- - - - - - - - - -
ranking = 1
keywords = trisomy
(Clic here for more details about this article)

2/106. Fetal trisomy 10 mosaicism: ultrasound, cytogenetic and morphologic findings in early pregnancy.

    We report the ultrasound, cytogenetic and morphologic findings in a case of trisomy 10 mosaicism prenatally detected by chorionic villus sampling (CVS). CVS sampling was carried out at the 13th week of gestation because of ultrasound diagnosis of hydrops fetalis and hygroma colli. trisomy 10 mosaicism was diagnosed in cells from the cytotrophoblast (short-term culture) and the chorionic villus core (long-term culture). Fetal mosaicism was confirmed after termination of pregnancy in umbilical cord cells, placenta and fetal skin fibroblasts.
- - - - - - - - - -
ranking = 2.5
keywords = trisomy
(Clic here for more details about this article)

3/106. Prenatal findings in trisomy 16q of paternal origin.

    A 34-year-old pregnant woman was referred at 30 weeks of gestation with suspected fetal congenital heart disease. On prenatal ultrasound the following anomalies were detected: intra-uterine growth retardation, micrognathia, coarctation of the aorta with ventricular and atrial septal defects, ambiguous external genitalia, and clinodactyly of one hand with adducted thumb. Prenatal karyotyping was offered but refused by the patient. The fetus was delivered by Caesarean section due to fetal distress at 36 weeks of gestation. The neonate, weighing 2150 g was transferred to the neonatal intensive care unit, where he died 10 days later. The karyotype from peripheral blood lymphocytes was 46,XY der(20)t(16;20)(q12.1;p13)pat. The maternal karyotype was unremarkable, whereas the father had the translocation t(16;20)(q12.1;p13). Necropsy confirmed all the prenatal findings. These are discussed together with the implications of the chromosomal diagnosis and the pertinent literature is reviewed.
- - - - - - - - - -
ranking = 2
keywords = trisomy
(Clic here for more details about this article)

4/106. prenatal diagnosis of Down's syndrome in the presence of isolated Ebstein's anomaly.

    Ebstein's anomaly is a rare congenital cardiac defect, characterized by the displacement of the tricuspid valve into the right ventricle, that occurs approximately once in 20,000 live births. The association of Ebstein's anomaly and chromosomal abnormalities, such as Down's syndrome, is extremely unusual. prenatal diagnosis of trisomy 21 in a fetus with isolated Ebstein's anomaly has not been previously reported.
- - - - - - - - - -
ranking = 0.5
keywords = trisomy
(Clic here for more details about this article)

5/106. Punctate epiphyses associated with turner syndrome.

    The radiographic observation of stippled calcification in cartilage defines the chondrodysplasia punctata group of bone dysplasias. Several other diseases may be associated with the radiographic finding of punctate epiphyses, usually uncommonly - for example, trisomy 21. Other more subtle chromosomal abnormalities also associated with punctate epiphyses include microdeletions of the x chromosome. A case of turner syndrome with punctate calcification of the epiphyses is described.
- - - - - - - - - -
ranking = 0.5
keywords = trisomy
(Clic here for more details about this article)

6/106. First-trimester ultrasound diagnosis of holoprosencephaly: three case reports.

    We present three cases of fetal holoprosencephaly diagnosed by transabdominal and transvaginal ultrasound examinations at 10 and 13 weeks' gestation. The diagnosis was based on two sonographic criteria: first, the intracranial finding of a single ventricle with a cerebral mantle and no visible midline structures but fusion of the thalami and corpus striatum; and, second, facial abnormalities, including hypotelorism. The ultrasound findings were confirmed by embryoscopy before abortion in one case and by pathological examination after abortion in two cases. Chromosome study of the three fetuses showed trisomy 18, triploidy and mosaic 18p deletion and duplication.
- - - - - - - - - -
ranking = 0.5
keywords = trisomy
(Clic here for more details about this article)

7/106. Sonographic features of fetal trisomy 18 at 13 and 14 weeks: four case reports.

    Fetal trisomy 18 is the second most common multiple malformation syndrome. We present four cases of trisomy 18 with multiple sonographic abnormalities at 13 and 14 weeks of gestation. These cases demonstrated that fetal hand deformities can be a tell-tale sign of trisomy 18 with or without increased nuchal translucency at this gestation.
- - - - - - - - - -
ranking = 3.5
keywords = trisomy
(Clic here for more details about this article)

8/106. prenatal diagnosis of nonmosaic trisomy 9 in a fetus with severe renal disease.

    We report a case of nonmosaic trisomy 9 presenting at 21 weeks of gestation with polycystic, echogenic horseshoe kidney, collapsed bladder, absent amniotic fluid, and intrauterine growth restriction. color Doppler imaging demonstrated no blood flow signals from renal vessels. fetal blood sampling confirmed a 47,XX, 9 karyotype, with no evidence of mosaicism, and increased serum beta2-microglobulin levels of 10.7 mg/l, consistent with severe renal failure. A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect. Follow-up examinations showed progressive growth restriction leading to fetal death at 33 weeks of gestation. This report demonstrates that fetuses with nonmosaic trisomy 9 may present with severe renal abnormalities and confirms that cases seen in the second and third trimesters usually have a dismal outcome.
- - - - - - - - - -
ranking = 3
keywords = trisomy
(Clic here for more details about this article)

9/106. tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature.

    A large cardiac rhabdomyoma protruding into the left ventricle was diagnosed in a fetus at 21 2 weeks of gestation by grey-scale echocardiography. Obstruction to left ventricular outflow was ruled out by colour and spectral Doppler echocardiography. No other abnormalities were noted and karyotyping by cordocentesis revealed trisomy 21 (47,XY, 21). Post-mortem examination after termination of pregnancy confirmed the prenatal diagnosis of cardiac rhabdomyoma and in addition revealed fetal tuberous sclerosis. Demonstration of cardiac rhabdomyoma by prenatal ultrasound should raise suspicion of the presence of fetal tuberous sclerosis. Despite the incidental association with aneuploidy, fetal karyotyping is suggested for optimal counselling of parents.
- - - - - - - - - -
ranking = 2.5
keywords = trisomy
(Clic here for more details about this article)

10/106. Prenatal detection of trisomy 18 caused by isochromosome 18p and 18q formation.

    We report on the prenatal detection and further genetic studies in a case of trisomy 18 caused by isochromosome 18p [i(18p)] and 18q [i(18q)] formation. The diagnosis was made by standard cytogenetic techniques in amniotic fluid cells and confirmed by fluorescence in situ hybridization. The formation of the isochromosomes cannot be explained by a single model; centromere misdivision and meiosis II nondisjunction without recombination or mitotic misdivision are the most likely mechanisms of formation as indicated by dna analysis.
- - - - - - - - - -
ranking = 2.5
keywords = trisomy
(Clic here for more details about this article)
| Next ->


Leave a message about 'Fetal Diseases'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.