Cases reported "Oligohydramnios"

Filter by keywords:



Filtering documents. Please wait...

1/11. 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 = 1
keywords = trisomy
(Clic here for more details about this article)

2/11. Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2).

    A female fetus with bilateral renal agenesis and fetal ascites was found to have partial trisomy 13 (pter-q12.3) and partial trisomy 16 (p13.2-pter), 47,XX, der(13)t(13;16)(q12.3; p13.2)mat. The chromosomal aberration was due to a 3:1 segregation with tertiary trisomy transmitted from a maternal reciprocal translocation 13;16. Prenatal ultrasound of a 29-year-old, gravida 2, para 0 woman at 22 gestational weeks showed fetal ascites, severe oligohydramnios and non-visualization of fetal urinary bladder and kidneys. The pregnancy was terminated. At delivery, the proband displayed dysmorphic features of hypertelorism, a prominent glabella, epicanthic fold, a stubby nose with a depressed nasal bridge, anteverted nares, thin lips, micrognathia, low-set ears, a short neck and a distended abdomen. Necropsy confirmed bilateral renal agenesis and ascites. A cytogenetic study performed on fibroblasts obtained from the proband's skin revealed an extra supernumerary chromosome. The mother was later found to have a reciprocal translocation. fluorescence in situ hybridization for a submicroscopic deletion in chromosome 22q11 in the proband was negative. The parents had no urological anomalies. Our observation further extends the clinical spectrum associated with proximal trisomy 13q and distal trisomy 16p. We suggest prenatal cytogenetic analysis in fetuses with urological anomalies, including renal agenesis, to uncover underlying genetic disorders.
- - - - - - - - - -
ranking = 2.439964756891
keywords = trisomy, partial trisomy
(Clic here for more details about this article)

3/11. An unusual case of trisomy and triploidy in a chorion villus biopsy.

    A case is reported of a 35-year-old woman who underwent a chorion villus biopsy (CVB) at 17 weeks' gestation after intrauterine growth retardation and oligohydramnios were diagnosed by ultrasound scan. Chromosome analysis of the CVB direct preparations showed a 47,XX, 6 karyotype in all cells. The pregnancy was terminated and subsequent analysis of cultured cells from both the CVB and the post-mortem placenta showed three cell lines: 46,XX, 47,XX, 6 and 69,XXX, while fetal skin and muscle were entirely 69,XXX. An explanation is proposed for the origin and distribution of the three cell lines.
- - - - - - - - - -
ranking = 0.66666666666667
keywords = trisomy
(Clic here for more details about this article)

4/11. Antenatal detection of mosaic trisomy 9 by ultrasound: a case report and literature review.

    This paper presents a fetus with mosaic trisomy 9 diagnosed by chorionic villus sampling and confirmed by cordocentesis, and compares this case with published cases in order better to define the ultrasound markers confined to trisomy 9 syndrome. Detailed fetal ultrasound examination was carried out, revealing shortened femur, placental cysts and oligohydramnios. All published trisomy 9 cases with abnormal ultrasound findings were extracted from the medline database in the period from 1973 to 2002. We found 12 non-mosaic and 13 mosaic cases, including our case. The most frequent ultrasound abnormalities included characteristic cardiac, skeletal, craniofacial and central nervous system malformations. Intrauterine growth restriction and single umbilical artery were prevalent non-specific findings in both non-mosaic and mosaic groups. Parental chromosomal variations, as in our case, were not uncommon findings. When a fetus shows structural anomalies suggesting the presence of trisomy 9, karyotyping should be performed on both chorionic villi or amniocytes and fetal blood lymphocytes to enable a correct diagnosis to be made.
- - - - - - - - - -
ranking = 1.3333333333333
keywords = trisomy
(Clic here for more details about this article)

5/11. Double aneuploidy involving trisomy 7 with Potter sequence.

    We report a prenatal case of double aneuploidy (consisting of chromosome 7 and X) with the features of Potter sequence. Of the stillborn fetus, skin fibroblast cultures were performed and fluorescence in situ hybridization (FISH) technique was also used for further investigation. On physical examination; the fetus was found to have malformed ears, micrognatia, hypertelorism, abnormal extremities, rocker-bottom feet and abnormal external genitalia and polycystic right kidney was seen after an extensive autopsy. As amniocentesis and cordocentesis materials revealed x chromosome mosaicism, trisomy 7 was detected in the skin fibroblast culture of the ex fetus and karyotype evaluated as composite; 46~47,X, 7,-X[cp18]. FISH results confirmed the double aneuploidy and also revealed XX and XXXX cell lines. Comparison with the previously reported cases of trisomy 7 with Potter syndrome suggests a possible link (if not coincidental) between trisomy 7 and Potter syndrome in our case. This is the first reported case of double aneuploidy involving trisomy 7 with the features of Potter syndrome.
- - - - - - - - - -
ranking = 1.3333333333333
keywords = trisomy
(Clic here for more details about this article)

6/11. Sonographic diagnosis of epignathus (oral teratoma), prosencephaly, meromelia and oligohydramnios in a fetus with trisomy 13.

    Epignathus (oral teratoma), an extremely rare congenital tumour is generally known as an isolated anomaly with benign histology. We present a case of epignathus detected prenatally in an oligohydramniotic 24 week fetus in which anophthalmia, a single nostril, holoprosencephaly, meromelia, bilateral renal dysplasia and a club foot deformity were also present. Chromosome analysis revealed trisomy 13.
- - - - - - - - - -
ranking = 0.83333333333333
keywords = trisomy
(Clic here for more details about this article)

7/11. Renal agenesis and trisomy 22: case report and review.

    Renal agenesis has been reported in the literature in a wide variety of chromosomal abnormalities. trisomy 22 is frequently seen in first trimester miscarriages but is extremely rare in life-borns. The authors report on a second trimester female foetus with oligohydramnios sequence secondary to bilateral renal agenesis and trisomy 22 and review the literature.
- - - - - - - - - -
ranking = 0.83333333333333
keywords = trisomy
(Clic here for more details about this article)

8/11. The early prenatal sonographic diagnosis of renal agenesis: techniques and possible pitfalls.

    Out of 13,252 cases in which fetal bilateral echogenic kidneys were detected by transvaginal sonography between 12 and 18 weeks' gestation, there were nine fetuses where oval hypoechogenic masses were detected in the renal bed. In five fetuses where hypoechogenic masses in the renal bed were sonographically visualized, postabortal examination was compatible with renal agenesis and the hypoechogenic masses proved to be enlarged adrenals. In three additional cases, unilateral renal agenesis was accompanied by unilateral enlarged adrenals, radiologically confirmed postnatally. In one case, a false-positive sonographic diagnosis of Potter syndrome was made because of bilateral hypoechogenic masses in the renal bed. Postabortal examination detected hypoplastic kidneys, but of normal histology, in a dyskaryotic fetus with trisomy 22. In four cases of renal agenesis, the amniotic fluid was of normal volume until the 17th week. In two of the five cases of Potter syndrome, a cystic structure, compatible with the urinary bladder, was detected in the pelvis at 14 weeks. The diagnostic criteria for renal agenesis in the early fetus differ from those used in the second half of gestation.
- - - - - - - - - -
ranking = 0.16666666666667
keywords = trisomy
(Clic here for more details about this article)

9/11. Complex mosaicism associated with trisomy 9.

    Fetal karyotypes can be routinely obtained by chorionic villus biopsy, amniocentesis, or fetal blood sampling. Interpretation of results and subsequent counselling can be complicated by pseudomosaicism or mosaicism confined to the placenta or other tissues. We illustrate this by reporting a case of an abnormal fetus with a total of three karyotypically different cell lines (46,XX; 47,XX, 9; and 47,XX, del(9) (q11) in different tissues (placenta, lung, gonad, and skin).
- - - - - - - - - -
ranking = 0.66666666666667
keywords = trisomy
(Clic here for more details about this article)

10/11. Elevated alpha-fetoprotein and human chorionic gonadotropin as a marker for placental trisomy 16 in the second trimester?

    In a series of 2961 consecutive cases with second-trimester biochemical triple screening for Down's syndrome and neural tube defect (NTD), ten (0.3 per cent) showed an apparent increased risk for both conditions. Three cases had chromosomal abnormalities, namely trisomy 16 confined to the placenta. Since placental trisomy 16 as well as cases with increased alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) are associated with (intrauterine growth retardation (IUGR), oligohydramnios, and fetal demise, at least some cases with this atypical biochemical profile could be explained by this chromosomal abnormality. From our results we recommend that in cases with increased risk for both Down's syndrome and NTD, fetal karyotyping should preferably be done on a placental biopsy, especially when ultrasound in the absence of anomalies demonstrates early IUGR.
- - - - - - - - - -
ranking = 1
keywords = trisomy
(Clic here for more details about this article)
| Next ->


Leave a message about 'Oligohydramnios'


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