Marfan Syndrome and Pregnancy-A Case Report and Review of the Literature

Marfan syndrome is an autosomal dominant disorder characterized by abnormalities of skeletal, cardiovascular and ocular systems. Pregnant women may suffer from hemodynamic stress resulting from increased cardiac output and structural changes in the aortic wall leading dilatation and dissection of the aorta. It is usually advised to avoid pregnancy to women with Marfan Syndrome however with advances in medicine, successful pregnancies with Marfan Syndrome are reported. Therefore, the aim of this study is to review the literature over a case with a successful management during pregnancy

Prenatally Diagnosed Ureteropelvic Junction Obstruction in Three Siblings of one Family: A Case Report

Ureteropelvic junction obstruction is a rare congenital abnormality. The mode of inheritance is thought to be autosomal dominant with variable expressivity. Here, a consanguineous family whose three siblings diagnosed to have various degree of ureteropelvic junction obstruction is presented. Ureteropelvic junction obstruction may have a genetic background and may recur in subsequent pregnancies. Furthermore, genetic thrombophilias may be associated with urinary abnormalities. Further molecular studies are necessary to prove that finding

Prenatal Diagnosis of Osteogenesis Imperfecta

Skeletal dysplasias are a group of diseases with a wide spectrum related to bone and cartilage. Some forms are lethal whereas some forms have milder clinical progression. Prenatal diagnosis of skeletal dysplasias may be possible especially when there is an index case in the family. Ultrasonography plays the central role in prenatal diagnosis and most common sonographic features are angulation of long bones, bending of femur or bowing signin the long bones. We present a case whose follow up for fetal short extremities ended with termination of pregnancy. The differential diagnosis is hard and depend especially on the fetal x-ray. Final diagnosis was lethal type osteogenesis imperfecta

Prenatal Diagnosis of Sirenomelia

Sirenomelia is a rare and lethal congenital malformation. It is associated with a variety of anomalies and oligo/anhydramniosis. We present a case of sirenomelia detected in early second trimester presenting with anhydramniosis

Cystic Hygroma and Monosomy X

Cystic hygroma is a congenital malformation of the lymphatic system. They are associated with chromosomal abnormalities and major structural anomalies. We describe a case of cystic hygroma associated with monosomy X and termination of pregnancy at 14 weeks of gestation

Prenatal Diagnosis Of Tay-Sachs Disease

OBJECTIVE: To emphasize the efficacy and safety of the prenatal invasive procedures for prenatal diagnosis of Tay-Sachs disease. STUDY DESIGN: In this case series, the results of the prenatal invasive procedures that were performed for diagnosing Tay-Sachs disease in 8 patients between 2000 and 2008 are reported. The samples were obtained by chorionic villus sampling or by cordocentesis. Total hexosaminidase level and the percentage of isoenzyme ß-Hexosaminidase A were measured in fetal samples. RESULTS: There were 8 patients in diagnosed prenatatlly between 2000-2008. Sufficient material for enzyme analysis was obtained without any complications. Total hexosaminidase levels and the percentage of hexosaminidase were in normal limits in all fetal samples. All pregnancies ended up with uneventful term births. CONCLUSION: Tay-Sachs disease can be diagnosed prenatally by measuring hexosaminidase enzyme activity in fetal tissue samples with an acceptable complication rate. Prenatal diagnosis should be offered to families who have affected siblings with Tay-Sachs disease

Pregnancy Outcome of Renal Transplant Recipients: Analysis of Nine Patients

OBJECTIVE: Pregnancy in renal transplant recipient was considered unsafe in the past. To date, these patients have successful pregnancy outcome. In this study, we aimed to analyze the outcome of pregnancy in kidney transplant recipients and the consequences on renal function. STUDY DESIGN: Retrospective analysis RESULTS: We found that the mean gestational age at delivery for patients were 35.22 weeks and 55.5% patients had preterm delivery and this result is higher than normal pregnant population. CONCLUSION: Pregnant women who renal transplant recipient have higher risk for preterm labor and hypertension compared normal pregnant women