ABSTRACT
Congenital high airway obstruction syndrome (CHAOS) is an extremely rare and life-threatening condition. It occurs due to obstruction in fetal respiratory tract and is characterized by typical ultrasonographic findings. Risk of recurrence is low, so antenatal diagnosis can help in counselling regarding risk of recurrence. A retrospective record review of all cases referred to our institution for antenatal ultrasound over a period of 5 years from January, 2014 to December, 2018 was done. Cases diagnosed as CHAOS were reviewed in detail regarding the radiological findings, information regarding delivery, fetal karyotype and postnatal/ fetal examination. Between the period of 2014 to 2018 three fetuses with CHAOS were identified. All of them had characteristic radiological features. Two of them were associated with hydrops and one fetus had oligohydramnios. All the pregnancies were terminated after antenatal diagnosis. Amniocentesis was done in 2 out of 3 cases and fetal karyotype was found to be normal. Fetal autopsy was done in one case and site of upper airway obstruction was identified. Confirmation of diagnosis by antenatal ultrasound and if possible, by post-mortem examination is essential for providing estimation of risk of recurrence to the family and genetic counselling.
ABSTRACT
Background: The objective of this present study was to investigate the possible association of natural killer group (NKG) receptors gene polymorphisms and MHC class I chain-related protein A (MICA) gene polymorphism with recurrent spontaneous abortion (RSA).Methods: Three single-nucleotide polymorphism (SNPs) in NKG2D gene (rs2255336, rs2617160 and rs2617170) and one SNP in MICA gene (MICA129) rs1051792 were assessed in 100 controls and 100 patients employing polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and agarose gel electrophoresis.Results: NKG2D (rs2617160) and MICA 129 (rs1051792) variants are associated with RSA risk in North Indian women.Conclusions: The NKG2D and MICA129 gene polymorphisms may influence the success of pregnancy in North Indian women population.
ABSTRACT
The aim of the present study was to evaluate the diagnostic yield of prenatal cytogeneticmicroarray (CMA) in structurally normal and abnormal foetuses and record the acceptance rate of CMA for prenatal diagnosis over a course of five year. In 128 structurally normal and abnormal foetuses, CMA was performed along with foetal karyotype, after exclusion of aneuploidy by quantitative fluorescence polymerase chain reaction. The microarray was able to detect the pathogenic variants in 5.5% cases; the diagnostic yield in structurally abnormal foetuses was 8.8% and 4.7% in foetuses with a high aneuploidy risk. Balanced and unbalanced translocations, and low level mosaicism were detected. Reanalysis of variants of uncertain significance identified pathogenic variant. The study shows higher diagnostic yield in structurally abnormal cases, the importance of foetal karyotype and reanalysis in microarray. The acceptance rate of prenatal CMA increased five-fold over a period of five year
ABSTRACT
Pediatricians’ awareness about malformation syndromes can help in their timely diagnosis. Williams syndrome is a microdeletion syndrome associated with characteristic facial features and behavioral phenotype. Diagnosis can be confirmed by fluorescence-in-situ hybridization or multiplex ligation probe amplification. Correct diagnosis can help in diagnosing hypercalcemia and cardiac defects, and providing genetic counseling to the family.