Suresh Seshadri

Triple X Syndrome with Rare Phenotypic Presentation

Triple X syndrome is a rare numerical chromosomal anomaly, occurring as a result of non dysjunction in meiosis I. Most cases have neurodevelopmental defects and functional problems. We report two cases diagnosed in our centre. The first was a fetus with cleft lip and palate, 47, XXX was identified by Fetal Blood Sampling. The second was a child with multisystem anomaly including cleft lip and palate, whose karyotype also revealed 47, XXX. Though isolated cases of associated abnormalities have been reported there have not been consistent phenotypic changes reported with this condition.

Citrullinemia type 1: Genetic diagnosis and prenatal diagnosis in subsequent pregnancy

Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of life. Both parents were identified to be carriers for the exon 15 p Gly390Arg mutation in the argininosuccinate synthetase gene located at chromosome 9q34.1. Chorionic villus sampling and prenatal genetic testing in the subsequent pregnancy revealed an affected fetus resulting in termination of pregnancy.

Basic Biostatistical Concepts for the Fetal Physician—I: The 2 × 2 Table and Its Derivatives

In the field of fetal medicine, correct interpretation and optimal utilization of diagnostic tests and signs have a major impact on the pregnancy outcome. The attributes of a diagnostic test, such as sensitivity and specificity, and the attributes of a test result such as positive and negative predictive values, and positive and negative likelihood ratios are important yet poorly utilized concepts in clinical practice. This paper explains these concepts using simple language and examples from the fetal medicine literature.

The First Trimester Combined Screening Test in the Indian Population: Insights from a Cohort of 27,647 Pregnancies

ObjectiveTo analyse the distribution and determinants of the first trimester screening risk for the detection of trisomy 21 in the population in and around Chennai, a south Indian metropolitan city.MethodsA cross-sectional analysis of 27,647 singleton pregnancies that underwent the first trimester combined screening test (FTS) was carried out. For the screen positive cases, karyotype reports or postnatal phenotype outcome were available. The distribution of the various components of risk assessment in the screen positive cases and screen negative cases formed the main outcome measures.ResultsOf the 27,647 cases, 4.6% (1270) of cases had unossified nasal bone; 1.8% (499/27,647) had risk more than 1:250 (screen positive). Fifteen (3.2%) of the screen positive cases had confirmed Down syndrome while 46 had termination of pregnancy and 8 had fetal loss.ConclusionsWith the current screening protocol, the screen positive rate and the odds of being affected given a positive result (OAPR) for a threshold of 1:250 are 1.8% and 1 in 25 respectively.

Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases

Abstract Blomstrand osteochondrodysplasia (BOCD) is a rare autosomal recessive sclerosing skeletal dysplasia characterized by accelerated chondrocyte differentiation. In this article, we discuss three cases where lethal skeletal dysplasia was suspected and Blomstrand dysplasia was diagnosed by autopsy. Antenatal ultrasound findings include increased nuchal translucency, tetramicromelia and polyhydramnios. Radiological hallmark is advanced skeletal maturation and bone sclerosis. Histology of long bones revealed narrow cartilagenous cap and changes in the physeal growth zone which showed severe hypoplasia and disorganization of proliferative phase and hypertrophic phase. Homozygous and compound heterozygous mutations in PTHR1 gene have been implicated in the pathogenesis of this chondrodysplasia.

Persistent Left Superior Vena Cava in Fetuses—An Autopsy Series

ABSTRACT Objective: To review fetal autopsy reports with persistent left superior vena cava (PLSVC) and identify its associations. Materials and methods: Autopsy reports of all fetuses diagnosed with PLSVC in our center from January 2011 to December 2015 were reviewed. Fetuses less than 15 weeks gestational age along with autolyzed and damaged hearts were excluded from the study. The study group was compared with controls during this period. Results: Prenatal ultrasound detection rate of PLSVC was 13.06%. All the cases had associated anomalies of which 96% had extra cardiac anomalies and 67% had intrinsic cardiac defects among which septal defects were most common (39.6%). Anomalies of cardiovascular, respiratory, genitourinary and musculoskeletal, hypoplastic thymus and single umbilical artery were significantly higher in the study group. Conclusion: This study emphasizes on the importance of improving the technical skill for imaging the three-vessel view as PLSVC seems to have significant associations.

Outcome of Antenatally Diagnosed Cardiac Rhabdomyoma: Case Series from a Tertiary Fetal Medicine Center in India

The aim of this case series is to review our institution’s experience with fetal cardiac rhabdomyoma, to document the clinical outcome and the incidence of associated tuberous sclerosis (TS) in these babies after birth. Eight cases with fetal cardiac rhabdomyoma were studied over a period of three years and the perinatal outcome was obtained. Out of these eight cases diagnosed antenatally, seven pregnancies continued till term and one woman opted for termination of pregnancy. There was one early neonatal death and of the six living, five developed TS with cutaneous and neurological manifestations. This association is similar with other larger multicentric studies and meta-analysis. Fetal cardiac rhabdomyoma is strongly associated with the development of TS in postnatal life, and the couples should be counseled regarding this association.