1/53. Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism.A female fetus with brain malformations, multicystic kidneys, absence of the right thumb, and a posterior cleft of palate was delivered at 32 weeks of gestation. Cytogenetic studies including FISH showed a novel intrachromosomal triplication of the proximal long arm of chromosome 2 (q11.2-q21), resulting in tetrasomy for this segment. The middle repeat was inverted. At least 11 patients with intrachromosomal triplications have been reported, mostly involving chromosome 15q. The mechanism involved in formation of these rearrangements is compatible with U-type exchange events among three chromatids.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
2/53. Recurrent fetal polycystic kidneys associated with glutaric aciduria type II.A woman had two pregnancies terminated in the 20th and 21st weeks of gestation after ultrasonographic detection of enlarged hyperechoic kidneys in both fetuses. The combination of polycystic kidneys and steatotic liver found at autopsy suggested glutaric aciduria type II (GA II), which was confirmed by biochemical investigation. GA II or multiple acyl-coa dehydrogenase deficiency is an autosomal recessively inherited defect of mitochondrial energy metabolism, which usually results in neonatal death. When pregnancy is terminated because of enlarged hyperechoic kidneys in the fetus, autopsy is crucial for establishing the correct diagnosis. The combination of polycystic kidneys and steatotic liver should bring GA II to mind, and prompt appropriate biochemical investigations so that genetic counselling and first trimester diagnosis can be offered in future pregnancies.- - - - - - - - - - ranking = 1.4126097162658keywords = gestation, pregnancy (Clic here for more details about this article) |
3/53. prenatal diagnosis of autosomal recessive polycystic kidney disease. A case report.We present a case of autosomal recessive polycystic kidney disease diagnosed at 28 weeks' gestation by ultrasonographic examination and magnetic resonance imaging (MRI). The fetal kidneys were symmetrically enlarged and highly echogenic by ultrasonographic examination and showed high-signal intensity on T2-weighted images by MRI. Cystic lesions were recognized by neither examination. In addition, the pulsatility index of the fetal renal artery was normal. These findings suggest a high water content in the renal parenchyma with tiny cysts and normal blood flow in autosomal recessive polycystic kidney disease.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
4/53. A new syndrome comprising vertebral anomalies and multicystic kidneys.We report a dichorionic twin pregnancy in which both fetuses were affected by a similar pattern of multiple abnormalities. The afrocaribbean parents had a history of infertility, and the pregnancy was conceived using in vitro fertilisation with donor sperm. The features seen in the fetuses do not fit any previously described disorder well. We discuss the differential diagnoses and suggest that this may be an autosomal recessive disorder which has not been previously described.- - - - - - - - - - ranking = 0.82521943253155keywords = pregnancy (Clic here for more details about this article) |
5/53. prenatal diagnosis of Meckel syndrome: a case report.OBJECTIVE: To demonstrate the major sonographic findings associated with Meckel syndrome and to emphasize the importance of prenatal sonography in helping to establish the correct diagnosis. SUBJECTS: Two fetuses with prenatal diagnosis of Meckel syndrome were sonographically evaluated. RESULTS: Both fetuses were demonstrated to have evidence of renal cystic dysplasia, occipital cephalocele and postaxial polydactyly. One case was diagnosed at 16 weeks of gestation whereas the other was detected at 36 weeks. Of interest, the first case had only unilateral renal cystic dysplasia and contralateral renal agenesis and mild degree of oligohydramnios. The other related anomalies which were not detected prenatally included cerebellar hypoplasia in case 1 and micrognathia in case 2. CONCLUSION: The main sonographic findings included renal cystic dysplasia, occipital cephalocele and postaxial polydactyly.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
6/53. Successful twin pregnancy in a dual-transplant couple resulting from in-vitro fertilization and intracytoplasmic sperm injection: case report.There are numerous reports of successful pregnancy following liver transplantation. Little information is available regarding the incidence and management of infertility in transplant recipients, particularly the use of artificial reproductive technologies. We present a case of a successful twin pregnancy resulting from in-vitro fertilization with intracytoplasmic sperm injection (IVF/ICSI) in a liver transplant recipient, whose partner was a renal transplant recipient with severe oligozoospermia. With careful evaluation and monitoring, and the involvement of appropriate consultants, artificial reproductive technologies can be safely used in transplant recipient couples experiencing infertility.- - - - - - - - - - ranking = 2.4756582975946keywords = pregnancy (Clic here for more details about this article) |
7/53. Mosaic partial trisomy of chromosome 5 (q33-q ter) associated with fetal polycystic kidneys.A case of de novo mosaic partial trisomy of chromosome 5 (q33-q ter) in a stillborn male fetus with bilateral polycystic kidneys, and atrial septal defect, is reported. Fetal cord blood sampling was carried out at 25 weeks of gestation because of bilateral polycystic kidneys with severe oligohydramnios observed on ultrasound examination of the fetus. The family history was notable for the presence of similar phenotypic abnormality in the mother and sibling. However, no chromosomal abnormality was detected in other family members. Significance of this rare chromosomal abnormality and its association with congenital malformations in the fetus and in the family is being discussed.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
8/53. Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.We report on the association of absent patellae, genital and renal anomalies, dysmorphic features, and mental retardation in seven children (six boys and one girl) belonging to five unrelated families. Flexion deformities of the knees and hips with club feet and absent patellae were consistently observed and scrotal hypoplasia and cryptorchidism were present in all boys (6/6). Dysmorphic features included a coarse face, a large nose with a high nasal bridge, and microcephaly. Other features included renal anomalies (multicystic kidneys or hydronephrosis, 7/7), agenesis of the corpus callosum (4/7), swallowing difficulties, micrognathia (4/7), and pulmonary hypoplasia (3/7). Bilateral hypoplasia of the ischia and brachydactyly were also consistently observed (5/5). In two out of seven cases, prenatal ultrasound detection of microcephaly and renal anomalies led to termination of the pregnancy at 27 weeks. Three children died during the first years of life and the remaining two who survived exhibit severe developmental delay. High resolution cytogenetic studies performed on lymphocytes or fibroblasts or both were normal in all cases. recurrence in two families suggests an autosomal recessive mode of inheritance. We propose that this unusual association, similar to that observed in a 4 year old boy by Goldblatt et al, represents a new syndrome distinct from previously reported hypoplastic patella syndromes.- - - - - - - - - - ranking = 0.41260971626577keywords = pregnancy (Clic here for more details about this article) |
9/53. Non-syndromic association of congenital hepatic fibrosis and bilateral cystic renal dysplasia.Congenital hepatic fibrosis (CHF) is associated with autosomal recessive polycystic kidney disease (ARPKD). Although cystic renal dysplasia (CRD) is the most common form of newborn cystic renal disease, this disorder of anomalous metanephric differentiation is only rarely found concurrent with CHF. Our literature review found only 13 sporadic and 12 familial non-syndromic cases of combined bilateral CRD and CHF reported outside taiwan. We report the first domestic case, occurring in a fetus of 18 weeks' gestational age, which was the second pregnancy of a 24-year-old mother with a previous history of spontaneous abortion at 10 weeks' gestational age. Postmortem autopsy confirmed the concurrence of bilateral CRD and CHF without associated anomalies of other visceral organs and external appearance. This particular association must be differentiated from ARPKD and liver disease, in regard to ultrasonographic examination and genetic counseling.- - - - - - - - - - ranking = 2.4126097162658keywords = gestation, pregnancy (Clic here for more details about this article) |
10/53. Successful pregnancy in a patient with polycystic kidney disease and advanced renal failure without prophylactic dialysis.Pregnancies in women suffering from advanced chronic renal failure are frequently associated with deterioration of maternal renal function, premature births and low birth weights. Prophylactic dialysis is sometimes instituted since this intervention ameliorates the uremic milieu and improves maternal status and fetal uterine environment. This report describes a successful pregnancy and delivery in a hypertensive woman with advanced chronic renal failure due to polycystic kidney disease without accelerating the natural deterioration of renal function and without instituting prophylactic dialysis. The infant was delivered at full term with a normal birth weight. Thirty months after delivery, growth and development of the child were normal and the rate of deterioration of maternal renal function, assessed by 1/creatinine, was unaffected by pregnancy. Conservative management and effective control of blood pressure may be sufficient to achieve successful pregnancy outcome when women with advanced chronic renal failure become pregnant.- - - - - - - - - - ranking = 2.8882680138604keywords = pregnancy (Clic here for more details about this article) |
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