1/23. A case of large placental chorioangioma with non-immunological hydrops fetalis.A 34-year-old Japanese woman (gravida 2, para 2) with polyhydramnios and non-immunological hydrops fetalis was referred to our department at 32 weeks of gestation. On admission, the blood pressure was 120/60 mmHg and there was no pitting edema of the lower extremities. An ultrasound examination disclosed a large placental tumor 5.8 cm x 4.4 cm x 4.8 cm. Fetal lung compression was suspected because the lung-thorax transverse area ratio was 0.13. The preload index of the inferior vena cava was 0.74, suggesting fetal cardiac failure. After fetal pleural effusion was aspirated, lung compression developed. cordocentesis was performed at 33 weeks of gestation, and the fetal karyotype was confirmed to be 46, XY from an umbilical blood cultivation. The patient underwent a cesarean section at 33 weeks of gestation due to severe uterine contraction after preterm PROM. The baby was a 3,840 g male with a distended abdomen. apgar score at 1 minute was 1. A chest X-ray demonstrated respiratory distress syndrome. The baby was discharged on the 69th day after birth and he is now 2 years and 9 months old and healthy.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/23. 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) |
3/23. Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax.We report the first case of mosaic trisomy 21 with non-immune hydrops fetalis and bilateral chylothoraces. Prenatal fetal blood karyotype analysis of 15 fetal cells revealed a 46,XX karyotype. Aggressive prenatal management, including fetal thoracocentesis and pleuro-amniotic shunt, was performed. A clinical phenotype of down syndrome was apparent after the gross oedema had subsided. Subsequent chromosome study of neonatal blood lymphocytes showed mosaic trisomy 21 with 23 per cent trisomic cells. review of the initial fetal blood sample identified trisomy in 5 per cent of 134 cells. Follow-up study at five months showed no trisomy 21 in 100 cells. This case illustrates the variable levels of mosaicism manifest in the peripheral blood of an infant with obvious down syndrome phenotype, and the limitation of cytogenetic analysis of peripheral lymphocytes alone in prenatal and postnatal detection of low levels of mosaicism.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
4/23. 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) |
5/23. Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity.In 1988 Greenberg et al. reported an association of fetal hydrops with irregular calcification and moth-eaten skeletal dysplasia. Here, we report on the first case of this disorder accompanied by additional malformations (omphalocele, intestinal malrotation, disturbed fingernails and toes, hypolobated lungs) in a German couple without consanguinity (karyotype 46,XY). Sonograpically, the fetus was characterised by tetraphokomelia, severe generalised hydrops, pulmonal hypoplasia and hepato-splenomegaly. Greenberg dysplasia should be considered in differential diagnosis in cases with severe fetal hydrops and phokomelia on antenatal sonography.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
6/23. Congenital cystic adenomatoid malformation of the lung coexisting with recombinant chromosome 18. A case report.OBJECTIVE: Diagnosis of congenital cystic adenomatoid malformation of the lung (CCAM) in association with recombinant chromosome 18. METHOD: Ultrasound diagnosis of a CCAM and hydrops was made. The mother was known to have a pericentric inversion of chromosome 18 and had a previous pregnancy with a recombinant chromosome 18 (partial deletion of 18p and partial duplication of 18q). cordocentesis for karyotype was therefore performed. RESULT: Fetal karyotype revealed a recombinant chromosome 18, this time with partial deletion of 18q and partial duplication of 18p. Postmortem confirmed a type III CCAM and a septum primum atrial defect. CONCLUSIONS: Although deletion/duplication of chromosome 18 is commonly associated with a wide variety of anomalies, the association with CCAM is an unusual one. Fetal and parental karyotyping should be considered in cases of CCAM, because fetal therapy is increasingly being considered in these pregnancies. Current management of parents with pericentric inversions must rely on invasive diagnostic testing in the second trimester because predicting the likelihood of an unbalanced karyotype and phenotype in a fetus is difficult.- - - - - - - - - - ranking = 3keywords = karyotype (Clic here for more details about this article) |
7/23. Two-dimensional and three-dimensional ultrasound of fetal anasarca: the glass baby.Fetal edema was recognized in the past as a complication of alloimmune disease. More recently, fetal edema is frequently seen in conditions that cause non-immune fetal hydrops with increased soft tissue thickness. Classically there is a halo pattern around fetal head, neck, thorax, and abdomen. Fetal edema is associated with karyotype abnormalities, with multiple congenital anomalies, and with certain fetal infections like parvovirus B19 that cause severe fetal anemia. In the present case there was no evidence of infection or karyotype abnormality, but there was hypoplasia of umbilical cord vessels, pulmonary hypoplasia, and pericardial effusion. The etiology of fetal hydrops may remain unknown in up to 30% of cases.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
8/23. prenatal diagnosis of triple X using fetal cells obtained by endocervical lavage.prenatal diagnosis of aneuploidies currently relies on invasive procedures such as chorionic villous sampling and amniocentesis. These methods can provide an accurate diagnosis of the fetal karyotype but are relatively invasive. Here, we report a case of the prenatal detection of triple X using fetal cells obtained by lavage of the endocervical canal prior to amniocentesis, following ultrasound diagnosis of hydrops fetalis.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
9/23. hydrops fetalis and neonatal death from human parvovirus B19: an unusual complication.A case of prenatally diagnosed human parvovirus B19 (HPVB19) infection is reported. The neonate died after intrauterine therapy and premature delivery.The fetus was diagnosed with oedema, cardiomegaly, poor myocardial contractility and a pericardial effusion at 24/40 weeks' gestation. Ultrasound using colour flow Doppler showed a midcerebral artery peak systolic velocity (MCA PSV) raised at 45 cm/s, suggesting fetal anaemia. This was confirmed on fetal blood sampling, but recovery was suggested with a reticulocyte count of 16.8%. The fetal karyotype was normal, 46,XY. Fetal IgM was positive for parvovirus. A week later, severe fetal anaemia was suspected and intrauterine transfusion carried out. Altogether three transfusions were given. At 31/40 weeks, the mother presented to her local hospital with suspected preterm labour, a caesarean section was carried out because of fetal compromise on cardiotocography. The baby was in poor condition at birth and resuscitation was stopped at 45 min of age. The post-mortem examination confirmed the hydrops and proved persistent parvovirus infection, cardiac involvement and severe liver fibrosis.HPVB19 generally follows a benign course with intrauterine therapy; however, in this case, the fetus died despite successful transfusions. The reasons for this are discussed.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/23. Nonimmune hydrops fetalis due to generalized lymphatic dysplasia in an infant with Robertsonian trisomy 21.We report the first case of generalized lymphatic dysplasia and trisomy 21 presenting with nonimmune hydrops fetalis. This infant showed intractable chylothorax, chylous ascites, and periodic bouts of edema. A karyotype analysis revealed Robertsonian trisomy 21: 46,XY,t(14q21q)(q10;q10) 21. This patient died of multiple organ failure at 400 days of life, despite the management of chylous effusions. The lymphoscintigraphy and histopathological findings led to the final diagnosis of generalized lymphatic dysplasia, which might also contribute to the development of hydrops. Refractory chylothorax in trisomy 21 patients may emphasize the need for intensive scrutiny of lymphatic disorders.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
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