Supernumerary Marker Chromosome And Global Developmental Delay: Role Of Microarray - Case Report And Review Of Literature

Small supernumerary marker chromosomes (sSMCs) are defined as structurally abnormal chromosomes that cannot be identified or characterized by conventional karyotype analysis and are generally equal in size or smaller than chromosome 20. Here, we present the molecular characterization of an sSMCs derived from chromosome 15 in prenatal diagnosis in a 38-years-old female

Uterine Artery Pseudoaneurysm with AV Malformation: A Rare Cause of Secondary Post Partum Hemorrhage.

Vascular malformations of uterus are a rare cause of delayed post partum hemorrhage (PPH).We discuss a case of a combined pseudoaneurysm with arteriovenous malformation as a cause of secondary PPH, which was diagnosed on doppler sonography and confirmed on angiography. It was successfully managed with uterine artery embolization.

Symptomatic Postoperative Rectus Sheath Haematomas

We retrospectively reviewed six cases of post-operative rectus sheath haematoma (RSH) managed at our institute during last six years. Out of 6 patients (mean age 27 years) who presented with RSH, four preceded caesarean section and two abdominal hysterectomy. They presented clinically as pain abdomen (n-6), shock (n-3), DIC (n-2) and fever (n-1). Haemoperitoneum was observed in 3 patients with shock and the diagnosis was confirmed at surgery. Three clinically stable patients with an infraumbilical abdominal mass were managed conservatively. One required US guided aspiration of the infected haematoma. Massive RSH is an unusual potentially life threatening condition. The diagnosis should be considered in all patients with acute post-operative pain and free fluid in the abdomen.

Pregnancy in a patient of Glanzmann's thrombasthenia.

Glanzmann's thrombasthenia is a congenitally acquired platelet disorder with an autosomal recessive mode of inheritance. Though, quantitatively normal, the aggregation ability of platelets is reduced in this condition. Pregnancy and delivery are rare in these patients and have been associated with a high risk of severe post-partum hemorrhage. We describe a primigravida, who was diagnosed to have Glanzmann's thrombasthenia during adolescence. She developed secondary post-partum hemorrhage after an elective caesarean section, which was successfully managed by single donor platelet transfusion.

Mother-to-child transmission of hepatitis E virus infection.

OBJECTIVES: Water borne or enterically transmitted non-A-non-B hepatitis is a major public health problem in India. Many of these cases carry fatal outcome. The hepatitis E virus (HEV) has been considered to be the most important causative agent of this entity. The severity and fatality rates of HEV infection are reported to be rather more in pregnant women. However, there is meager information from India, on mother to child transmission of this agent. METHODS: During 1997-98, we studied 60 pregnant women suspected to have acute viral hepatitis to understand the frequency of various viral etiologies, disease course and outcome of the pregnancy. Six cord blood samples were tested for IgG, and IgM antibodies against hepatropic viral agents and also for hepatitis E virus RNA by RT-nested PCR using ORF-1 as target. RESULTS: Of the 60 pregnant patients hospitalised at All India Institute of Medical Sciences, New Delhi for acute hepatitis, 22 (37%) were positive for IgM anti-HEV antibodies and 10% were infected with hepatitis B virus. Co-infection of HEV with Hepatitis B and C was seen in 1 and 2 patents, respectively. Most (72%) of the HEV infected patients were in third trimester of pregnancy (P<0.05). Of the 6 cord blood samples tested 3 (50%) were positive for HEV RNA. Though, all mothers were RNA positive, half of the babies did not get infected in utero with HEV. Fourteen of the 22 (63.6%) HEV infected mothers developed fulminant hepatic failure and all died. CONCLUSION: The mortality rate in HEV [corrected] infected mothers was 100%. Mother to child transmission of hepatitis E virus infection was established in 50%.

Rapid prenatal karyotyping using foetal blood obtained by cordocentesis.

BACKGROUND: Prenatal karyotyping using foetal blood samples obtained by cordocentesis is a useful method of detecting abnormal chromosomes in the foetus. METHODS: Cordocentesis was performed in 187 cases for prenatal karyotyping between January 1995 and September 2000. Pregnant women were between 18 and 38 weeks of gestation and their ages ranged from 18 to 40 years. The common indications were ultrasonographic abnormalities (47.6%), history of previous Down syndrome (13.3%), advanced maternal age (11.7%), low maternal serum alpha foetoprotein levels (10.7%), previous child with malformation (10.7%), previous child with trisomy (chromosome 13/18) (2.6%), parent a balanced translocation carrier (1.6%) and high maternal serum alpha foetoprotein levels (1.6%). RESULTS: Analysis of 137 successful cultures showed 8 (5.2%) karyotype abnormalities. The remaining samples could not be reported due to the presence of maternal contamination of the sample (12.3%), inadequate sample (6.4%) or culture failure (9.8%). In those with an abnormal karyotype, obstetric management could be altered appropriately. CONCLUSION: In foetuses at high risk of a chromosomal aberration, a rapidly obtained karyotype is helpful in obstetric management.