  S. P. Yadav et al. complex cytogenetics in 2, XO in 2, trisomy 8 in 1) disease. In the favorable-risk group, 4 died, 5 were lost to follow-up, and only 1 is alive. Among 5 patients with t(15; 17), only 2 opted for therapy. One died in induction with intracranial bleed and the other relapsed 1 year after finishing therapy. In the intermediate-risk group, 2 died during induction and 2 are alive and disease-free. In the high-risk group, 3 died, 2 were lost to follow-up, and 2 are alive with 1 disease-free.High mortality with intensive protocol, high relapse rates with less intensive protocols, and treatment abandonment are major barriers to improving outcome for pediatric AML in the developing world. Less intensive protocols with better efficacy are the need of the hour. Declaration of interestPediatric Hematology and Oncology

HLA-G, a nonclassical class-Ib gene is mainly expressed on extravillous trophoblasts at the fetal-maternal interface. HLA-G molecule is considered to play an important role in maternal immune suppression during pregnancy. The 14 bp insertion/deletion polymorphism (rs66554220) in exon eight of the HLA-G gene influences HLA-G mRNA stability and isoform splicing patterns. In this study, 202 recurrent miscarriage (RM) women with two or more than two consecutive miscarriages, their 202 partners and 204 fertile control women with at least one live birth and no miscarriages were analyzed for 14 bp insertion/deletion polymorphism. Soluble HLA-G (sHLA-G) levels were also determined and compared between randomly selected 111 RM women and 111 control women using QAYEE-Bio ELISA kits. Student's t test and χ test were used to depict the statistical differences. The results showed no significant differences for 14 bp allele and genotype frequencies between the study groups. However, our study showed a significant difference (P = .0107) for sHLA-G levels in RM women and control women. Furthermore, a significant difference (P = .0135) for sHLA-G levels in relation to +/-14 bp heterozygous genotype was seen between the two groups. The 14 bp allele sharing between the partners did not show any significant association with the number of miscarriages in RM couples. The association of 14 bp polymorphism and recurrent miscarriages was not significant in our study.

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Advanced molecular, cytogenetic and biochemical techniques have been a useful addition for genetic counseling and prenatal diagnosis in India.

Karyotyping and fluorescence in situ hybridization (FISH) detect fetal chromosome abnormalities. The choice between karyotyping and FISH is still debatable. In a developing country, parents face an emotional and economic constraint of a prenatal test. Therefore, the results of karyotyping and FISH were analyzed to determine the percentage of clinically abnormal fetuses which would be missed by using standalone FISH. Amniotic fluid samples from 9033 high-risk pregnancies were subjected to karyotyping and FISH for chromosomes 13, 18, 21, X, and Y. Karyotype and FISH were normal in 8680 (96.1 %) of these samples and 353 (3.9 %) had abnormal karyotypes: 285 (3.2 %) were aneuploidies, also detected by FISH and 68 (0.7 %) were structural chromosomal aberrations not detected by FISH. Out of these 68 structural aberrations, 40 (0.4 %) were balanced rearrangements with no apparent clinical significance and 28 (0.3 %) were unbalanced rearrangements with potential clinical significance. By standalone FISH, 0.3 % clinically-significant samples would have been missed. A 0.2 % risk of procedure-related abortion may be acceptable but a 0.3 % risk of having an abnormal child may not be acceptable to the parents. FISH may be offered as a first test, followed by karyotyping. Although, karyotyping increases the cost, it is preferable to carry this out once an invasive procedure has been opted for, with its accompanying risk of miscarriage.

BackgroundPartial Trisomy 11q syndrome (or Duplication 11q) has defined clinical features and is documented as a rare syndrome by National Organization of Rare Disorders (NORD). Deletion 1q44 (or Monosomy 1q44) is a well-defined syndrome, but there is controversy about the genes lying in 1q44 region, responsible for agenesis of the corpus callosum. We report a female child with the rare Partial Trisomy 11q syndrome and Deletion 1q44 syndrome. The genomic imbalance in the proband was used for molecular characterization of the critical genes in 1q44 region for agenesis of corpus callosum. Some genes in 11q14q25 may be responsible for laryngomalacia.ResultsWe report a female child with dysmorphic features, microcephaly, growth retardation, seizures, acyanotic heart disease, and hand and foot deformities. She had agenesis of corpus callosum, laryngomalacia, anterior ectopic anus, esophageal reflux and respiratory distress. Chromosome analysis revealed a derivative chromosome 1. Her karyotype was 46,XX,der(1)t(1;11)(q44;q14)pat. The mother had a normal karyotype and the karyotype of the father was 46,XY,t(1;11)(q44;q14). SNP array analysis showed that the proband had a 54 Mb duplication of 11q14q25 and a 0.9 Mb deletion of the submicroscopic subtelomeric 1q44 region. Fluorescence Insitu Hybridisation confirmed the duplication of 11qter and deletion of 1qter.ConclusionLaryngomalacia or obstruction of the upper airway is the outcome of increased dosage of some genes due to Partial Trisomy 11q Syndrome. In association with other phenotypic features, agenesis of corpus callosum appears to be a landmark phenotype for Deletion 1q44 syndrome, the critical genes lying proximal to SMYD3 in 1q44 region.

The objective of the present study was to analyze the utility of noninvasive prenatal testing (NIPT) for aneuploidies in a developing country like India. NIPT was offered to 500 pregnant women, after review of data of the ongoing pregnancy. Pre-test counseling included the different methodologies of testing, their benefits, limitations, turnaround time and interpretation of the result and was offered to all. Different vendors were used for the test. The results were explained in a post-test counseling session. The indications of NIPT were positive second (36.6 %) or first (22 %) trimester screen, advanced maternal age with or without positive biochemical screen (24.6 %), ultrasound soft markers (10.8 %), previous history of Down syndrome (4.6 %) and anxious couple (0.1 %). No aneuploidy was detected in 484 samples. In 1 case, no result was available. Fifteen (3 %) cases showed positive results. These included 8 cases of trisomy 21, 3 cases of trisomy 18, 3 cases of monosomy X, and 1 case of triploidy. Confirmatory testing revealed 6 cases (40 %) to be false positive-1 case of trisomy 21, 1 case of trisomy 18, 3 cases of monosomy X, and 1 case of triploidy. Of 484 cases, 230 have delivered healthy neonates, while the rest have yet to deliver. Four cases had to discontinue pregnancy due to complications in later pregnancy but unrelated to the NIPT results. Noninvasive prenatal test qualifies as an 'advanced' screening test, and requires invasive diagnostic tests for confirmation of the positive results. The pre-and post-test counseling is essential to appropriately explain the limitations, benefits, and the results to the couple. Recommendations are made for the appropriate deployment of this new technology in developing countries.

CONTEXT:A majority of human embryos produced in vitro are aneuploid, especially in couples undergoing in vitro fertilization (IVF) with poor prognosis. Preimplantation genetic screening (PGS) for all 24 chromosomes has the potential to select the most euploid embryos for transfer in such cases.AIM:To study the efficacy of PGS for all 24 chromosomes by microarray comparative genomic hybridization (array CGH) in Indian couples undergoing IVF cycles with poor prognosis.SETTINGS AND DESIGN:A retrospective, case–control study was undertaken in an institution-based tertiary care IVF center to compare the clinical outcomes of twenty patients, who underwent 21 PGS cycles with poor prognosis, with 128 non-PGS patients in the control group, with the same inclusion criterion as for the PGS group.MATERIALS AND METHODS:Single cells were obtained by laser-assisted embryo biopsy from day 3 embryos and subsequently analyzed by array CGH for all 24 chromosomes. Once the array CGH results were available on the morning of day 5, only chromosomally normal embryos that had progressed to blastocyst stage were transferred.RESULTS:The implantation rate and clinical pregnancy rate (PR) per transfer were found to be significantly higher in the PGS group than in the control group (63.2% vs. 26.2%, P = 0.001 and 73.3% vs. 36.7%, P = 0.006, respectively), while the multiple PRs sharply declined from 31.9% to 9.1% in the PGS group.CONCLUSIONS:In this pilot study, we have shown that PGS by array CGH can improve the clinical outcome in patients undergoing IVF with poor prognosis.