1/139. Favorable outcome in a fetus with an early-onset extensive cystic hygroma colli and intralesional hemorrhage.We present a rare occurrence of an early-onset extensive cystic hygroma colli with intralesional hemorrhage and a favorable outcome. A 23-year-old primigravida woman was referred for management of a left isolated extensive cystic hygroma colli at 22 weeks' gestation. amniocentesis revealed a 46, XY karyotype. Ultrasound-guidance in utero paracentesis was performed weekly or fortnightly from 22 to 36 gestational weeks. The aspirated fluid was chocolate-colored and contained abundant lymphocytes, erythrocytes, and protein. Despite multiple aspirations, the fetal cystic hygroma colli increased in size from 5.2x4.2 cm at 22 weeks' gestation to 9x9.7 cm at 36 weeks' gestation. The woman underwent cesarean section at 36 week's gestation and a-2808 g neonate was born with a 10x6 cm left neck mass, which did not impair spontaneous normal respiration. At the age of 4 days, the neonate underwent simple excision of the cystic hygroma, which was confined to the anterior superficial neck. The neonate was discharged 4 days after operation in good condition. In the present case, in utero paracentesis did not prevent the progressive growth of an early-onset extensive cystic hygroma colli with intralesional hemorrhage. However, lack of extension of the lesion into the surrounding structures and successful postnatal surgery contributed to the favorable outcome of this patient.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/139. prenatal diagnosis of dyssegmental dysplasia. A case report.BACKGROUND: Since the first use of sonography, most fetal dwarfism has been detectable prenatally. The correct differentiation of the subtype of dwarfism is difficult at times. Dyssegmental dysplasia is probably an exception to these subtypes because the vertebral disorganization and occipital encephalocele at times permits prenatal diagnosis. CASE: A 34-year-old woman, gravida 3, para 1, elective abortion 1 for dwarfism, was referred at 27 weeks' gestation for cystic hygroma. Further sonographic findings included: cystic hygroma with massive ascites, micromelia, occipital encephalocele, spinal disorganization and hydramnios. The fetus and both parents appeared to have a normal karyotype. Later the pregnancy was terminated with vaginal delivery. The fetus had micromelia, camptomelia, cystic hygroma, a flat face, short neck, short trunk, narrow thorax with protuberant abdomen, scoliosis and clubfeet. CONCLUSION: Sonography is effective in prenatal diagnosis of dyssegmental dysplasia. With sonography, diagnosis of dyssegmental dysplasia becomes possible as early as the first trimester.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/139. First-trimester non-invasive prenatal diagnosis of triploidy.We report a case of fetal triploidy in which fetal nucleated red blood cells were isolated from the maternal peripheral circulation at 12 weeks' gestation. FISH analysis with X and Y specific probes revealed three hybridization signals for the X chromosomes in 14 cells. The karyotype as established after CVS was shown to be 69,XXX. Two other non-invasive first-trimester screening methods were also evaluated. The serum markers pregnancy-associated plasma protein A (PAPP-A) and the free beta-chain of chorionic gonadotrophin (free beta-hCG) were both shown to be decreased in the same blood sample. An enlarged nuchal translucency (5 mm > or =95th centile) was seen at 13 2 weeks of gestation.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/139. Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome.Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and bilateral syndactyly. We document in detail the intrauterine natural history of Apert syndrome by serial sonographic examination. Ultrasound examination of a 19-week fetus revealed an abnormal appearance of the skull. The subsequent examination including transvaginal brain scanning demonstrated a deformed occipital part of the cerebrum and lateral ventricles, frontal bossing, a low nasal bridge and an abnormal appearance of the fetal hands and feet. The distortion of the fetal profile became progressively worse with advancing gestation. Towards the end of pregnancy, anterior prominence of the cerebrum, ventricles and corpus callosum was demonstrated and mild non-progressive ventriculomegaly was seen. The female 3152-g newborn with the typical facial appearance of Apert syndrome, bilateral syndactyly of the fingers and toes and isolated cleft palate was delivered at 37 weeks. Postnatal three-dimensional computed tomography scan demonstrated the fusion of the coronal suture and a wide mid-line calvarial defect, and cranial magnetic resonance imaging confirmed the prenatal sonographic findings. Although the karyotype was normal, genomic dna analysis of the fibroblast growth factor receptor 2 revealed Ser252Trp, which is specified in the mutational basis of Apert syndrome. The time course of the prenatal findings in this case may help increase understanding of the intrauterine natural history of Apert syndrome.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
5/139. 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 = 2keywords = karyotype (Clic here for more details about this article) |
6/139. 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 = 1keywords = karyotype (Clic here for more details about this article) |
7/139. Prenatal features of noonan syndrome.We report six cases of noonan syndrome which presented prenatally with sonographic abnormalities. These included increased nuchal fluid, short femora, pleural effusions, hydrops, cardiac and renal abnormalities. A review of all cases of noonan syndrome seen at two regional genetics centres confirms the association with these sonographic abnormalities. These cases demonstrate the diversity of prenatal presentation of noonan syndrome and highlight the need to consider this diagnosis, particularly when faced with a fetus with a normal karyotype and varying degrees of oedema or hydrops, with a short femur length.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
8/139. Prenatal ultrasound detection of congenital cataract in trisomy 21.A 45-year-old woman underwent serial ultrasound screening procedures during late first and second trimesters of pregnancy for advanced maternal age. Cultured amniocytes karyotype indicated full trisomy 21. Subsequently, the fetus developed congenital cataract diagnosed at 24 weeks. This is the first antenatal diagnosis of this complication of down syndrome.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
9/139. prenatal diagnosis of thoracopelvic dysplasia. A case report.BACKGROUND: Thoracopelvic dysplasia, a variant of asphyxiating thoracic dysplasia (Jeune syndrome), is an uncommon skeletal disorder characterized by a small thorax, pelvic abnormalities and other complex, combined anomalies, including hypomelia, polydactyly and renal anomalies. CASE: A 32-year-old woman, gravida 1, para 0, was referred at 27 weeks' gestation due to polyhydramnios. Sonography revealed hydramnios, low fetal thoracic circumference (TC) and abdominal circumference (AC) ratio (0.78), skull and skin edema, increased nuchal translucency (7 mm), micrognathia, low-set ears, left cardiac deviation (66 degrees), overriding fingers, and club and rock-buttock feet. amniocentesis revealed a normal karyotype (46, XY). Asphyxiating thoracic dysplasia was considered. At 40 weeks' gestation, a male infant was delivered vaginally. Besides the prenatal findings, cryptorchidism and high-arched palate were noted. radiography of the infant revealed a narrow, funnel-shaped thorax and small pelvis with short, flared iliac bones; poorly developed acetabulum; and small, shallow sciatic notch. No dyspnea was observed at five months postpartum. CONCLUSION: Thoracopelvic dysplasia should be considered when a low TC/AC ratio (< 0.8) is observed. In this case the final diagnosis was made after detailed exclusion of other disorders combined with observation of a small thorax. prenatal diagnosis of thoracopelvic dysplasia is possible.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/139. Non-immune fetal hydrops associated with nuchal cystic hygroma: further evidence for an autosomal recessive subtype.Nuchal cystic hygroma (NCH) and non immune hydrops (NIH) were detected by ultrasound examinations in two sib male fetuses. Fetal and parental karyotypes were normal. The parents elected to terminate the two pregnancies. Post mortem examination showed no anomalies other than those detected by ultrasound. The family history shows consanguinity supporting the hypothesis, in this family, of an autosomal recessive inheritance of the cystic hygroma/non immune hydrops.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
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