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Preimplantation genetic testing (PGT) is an early form of prenatal genetic diagnosis where abnormal embryos are identified, thereby allowing transfer of genetically normal embryos. This technology has become an integral part of Assisted Reproductive Technology (ART) procedures. Initial experiments with animals as early as 1890 and those in the mid and later part of the last century paved the forward path of ART and PGT. This review article covers the evolution of PGT and is a pointer toward current and fast-evolving technology, allowing scientists and doctors to better comprehend human reproduction, and ensure healthy pregnancy outcomes.

A considerable section of males suffered from COVID-19, with many experiencing long-term repercussions. Recovered males have been documented to have compromised fertility, albeit the mechanisms remain unclear. We investigated the impact of COVID-19 on semen proteome following complete clinical recovery using mass spectrometry. A label-free quantitative proteomics study involved 10 healthy fertile subjects and 17 COVID-19-recovered men. With 1% false discovery rate and >1 unique peptide stringency, MaxQuant analysis found 1099 proteins and 8503 peptides. Of the 48 differentially expressed proteins between the healthy and COVID-19-recovered groups, 21 proteins were downregulated and 27 were upregulated in COVID-19-recovered males. The major pathways involved in reproductive functions, such as sperm−oocyte recognition, testosterone response, cell motility regulation, adhesion regulation, extracellular matrix adhesion, and endopeptidase activity, were downregulated in COVID-19-recovered patients according to bioinformatics analysis. Furthermore, the targeted approach revealed significant downregulation of semenogelin 1 and prosaposin, two proteins related to male fertility. Therefore, we demonstrate the alteration of semen proteome in response to COVID-19, thus disrupting the male reproductive function despite the patient's clinical remission. Hence, to understand fertility-related biological processes triggered by this infection, a protracted evaluation of the consequences of COVID-19 in recovered men is warranted.

Introduction: To evaluate the effects of intraovarian platelet-rich plasma (IOPRP) instillation in young Indian women with diminished ovarian reserve (DOR). Methods: This prospective, ongoing, cohort study was performed by recruiting 45 consenting Indian women with DOR (group A). Up to 3 cycles of IOPRP instillation were performed after minimal ovarian stimulation. Outcome measures were changes in antral follicle counts (AFC), anti-Müllerian hormone (AMH) levels, an increase in total and mature oocytes retrieved and establishment of pregnancy. The pregnancy rates in 51 women with the same inclusion criteria during the same time period were compared (group B). Results: In group A, baseline mean AFC was 3.44±2.35 (n=45); mean AFC increased after IOPRP-1 (3.89±2.21, n=45, P=0.1198<0.05 vs. baseline), IOPRP-2 (4.91±2.79, n=33, P=0.0056<0.05 vs. baseline), and IOPRP-3 (4.95±2.84, n=19, P=0.0002<0.05 vs. baseline). Mean AMH was 0.85±0.44 ng/mL. The changes in average AMH levels showed significance after IOPRP-2 (P=0.048<0.05). In group B, mean baseline AFC was 4.74±2.19, mean baseline AMH was 0.98±0.38 ng/mL. In group A, frozen embryo transfer was performed in 32/45 women and 15 clinical pregnancies were established. In group B, 44/51 women underwent frozen embryo transfer, 11 clinical pregnancies were established. The clinical pregnancy rate per transfer was 46.88%/embryo transfer in group A versus 25%/embryo transfer in group B. Conclusions: IOPRP instillation can improve AFC and can enhance pregnancy results in women with DOR. Increase in AMH levels and the number of total and mature oocytes was observed after 2 IOPRP. Significantly higher pregnancy rates (P=0.0009<0.05) were observed in women with IOPRP versus matched controls without IOPRP.

Sjögren's syndrome (SS) is a chronic slowly progressive autoimmune disorder characterized by symptoms of oral and ocular dryness, exocrine dysfunction, and lymphocytic infiltration of exocrine glands. Multiple myeloma (MM) is a bone-marrow-based malignant neoplasm of plasma cells associated with serum/urine monoclonal paraproteins and lytic skeletal lesions. There have been very few reported cases of MM, who had SS as the first presentation. We report a case of a woman diagnosed with Sjögren's syndrome, who was later suspected to have multiple myeloma on serum protein electrophoresis. Fluorescence in situ hybridization (FISH) was carried out to check for deletions of loci 13q14.3, ATM, p53, and IGH (14q32) rearrangements on a bone marrow aspirate. Monosomy 13 was observed in 49% of cells, and a rearrangement at the IGH locus was seen in 42% of cells. To determine the partner chromosome associated with the IGH rearrangement, further FISH tests were set up for t(4;14)(p16;q32) followed by t(14;16)(q32;q22) on fresh slides. The test was negative for t(4;14) but positive for t(14;16) in 27% of cells. This confirmed the diagnosis of MM. We report the first case from India, having an association of Sjögren's syndrome with multiple myeloma, which showed t(14;16) and monosomy 13 by FISH analysis.

A couple with a history of five early miscarriages due to a balanced reciprocal translocation t(6;19) (p22;q13.4) in the wife, was referred for preimplantation genetic diagnosis (PGD) by fluorescence in situ hybridization (FISH). After oocyte retrieval, nine embryos were obtained. One cell from each embryo was biopsied, fixed and subjected to FISH using centromere and subtelomere probes for chromosomes 6 and 19. Five embryos which had unbalanced translocations, were not transferred. A balanced translocation or absence of translocation was seen in three embryos, which were transferred. One embryo had an anucleate cell and subsequently arrested. A pregnancy was achieved in the first intracytoplasmic sperm injection cycle itself and resulted in the birth of a healthy baby. This is the first baby after PGD for a reciprocal translocation in India. In 2010, the team of the authors reported the first successful pregnancy after PGD for a Robertsonian translocation and a normal child was born.

Male partners of infertile couples are known to frequently have abnormal semen parameters. Some of these cases are due to underlying genetic factors such as Y chromosome microdeletions, an abnormal karyotype or cystic fibrosis mutations. Y chromosome microdeletions generally cannot be detected by karyotyping. At our clinic we undertook a study of male partners of infertile couples to determine the frequency and common loci of Y chromosome microdeletions in India, using the PCR technique. We studied 100 patients mainly having azoospermia (AZ) or oligoasthenoteratozoospermia (OAT). Multiplex PCR analysis for 18 loci on the Y chromosome was carried out using commercially available kit (Promega Version 1.1). Y chromosome microdeletions were observed in 12/100 (12%) patients including 8/27 (29.63%) with azoospermia, 3/56 (5.35%) with oligoasthenoteratozoospermia and 1/ 7 (14.28%) with only asthenoteratozoospermia. All loci of the DAZ gene were deleted along with DYS237 and DYS236 from AZFd in 5/27 (18.52%) azoospermic males studied. The most commonly deleted loci were DYS240 in 11/12 (91.67%) and DYS219 in 7/12 (58.33%) patients with microdeletions. The use of ICSI in such patients can lead to transmission of Y chromosome microdeletions and subsequent infertility from father to son. Hence screening for Y chromosome microdeletions will help in the proper counseling and management of couples with male factor infertility.