Hasil Pencarian  ::  Simpan CSV :: Kembali

Abstrak :
Background: Adaptation and natural selection serve as an important part of evolution. Adaptation in molecular level can lead to genetic drift which causes mutation of genetic material; one of which is polymorphism of mitochondrial DNA (mtDNA). The aim of this study is to verify the polymorphism of mitochondrially-encoded Adenosine Triphosphate synthase6gene (MT-ATP6) as one of mtDNA building blocks among tropic, sub-tropic, and polar areas. Methods: This descriptive quantitative research used 3,210 mtDNA sequences, taken from GenBank, as secondary data from 27 different populations. The data were grouped into 3 population groups based on the climates of their location. After grouping, the sequences were then aligned and trimmed using Unipro EUGENE, and analyzed by Arlequin and MitoTool. Results: Results demonstrated 21 haplotypes distributed among 3 populations with variations between each climate population. In the tropic and sub-tropic populations, the dominant haplotype is h1 while h6 is dominant in the polar population. Conclusions: There is a variation of haplotype polymorphism between tropic, sub-tropic, and polar climate population.

Abstrak :
Adaptation and natural selection serve as an important part of evolution. Adaptation in molecular level can lead to genetic drift which causes mutation of genetic material; one of which is polymorphism of mitochondrial DNA (mtDNA). The aim of this study is to verify the polymorphism of mitochondrially-encoded Adenosine Triphosphate synthase6gene (MT-ATP6) as one of mtDNA building blocks among tropic, sub-tropic, and polar areas. Methods: This descriptive quantitative research used 3,210 mtDNA sequences, taken from GenBank, as secondary data from 27 different populations. The data were grouped into 3 population groups based on the climates of their location. After grouping, the sequences were then aligned and trimmed using Unipro EUGENE, and analyzed by Arlequin and MitoTool. Results: Results demonstrated 21 haplotypes distributed among 3 populations with variations between each climate population. In the tropic and sub-tropic populations, the dominant haplotype is h1 while h6 is dominant in the polar population. Conclusions: There is a variation of haplotype polymorphism between tropic, sub-tropic, and polar climate population.

Abstrak :
ABSTRAK
Latar Belakang: Metode seleksi embrio terbaik banyak dikembangkan untuk memperoleh transfer embrio tunggal dalam siklus fertilisasi in vitro (FIV). Blastokista merupakan tahap embrio terbaik yang didapat dari embrio dengan morfologi normal atau 2 pro-nukleus (2PN) maupun morfologi abnormal atau 3 pro-nukleus (3PN). Transfer blastokista masih memberikan tingkat keberhasilan implantasi dan kehamilan yang rendah karena penilaian morfologi yang baik tidak selalu mempunyai status kromosom yang baik. Aneuploidi dan mosaik diketahui masih ditemukan dalam populasi blastokista, sehingga perlu diketahui faktor-faktor yang menyebabkan kelainan tersebut. Tujuan dari penelitian ini adalah mengetahui hubungan antara morfologi dan perkembangan blastokista dengan kejadian aneuploidi dan mosaik, serta faktor yang mempengaruhinya. Metode: Penelitian dilakukan dengan metode potong lintang. Embrio diperoleh dari siklus FIV dan dikultur sampai tahap blastokista, penilaian morfologi blastokista dilakukan menggunakan skoring Gardner dengan 3 parameter yaitu grade ekspansi blastokista, inner cell mass, dan tropektoderm. pre-implantation genetic testing for aneuploidi (PGT-A) dilakukan dengan cara biopsi blastokista pada hari ke 5 atau 6 dan analisis kromosom dilakukan menggunakan metode Next Generation Sequencing (NGS). Hubungan antara morfologi blastokista dan status kromosom serta faktor yang mempengaruhinya kemudian dianalisis. Hasil: Didapatkan 70 embrio dari 25 pasien, dengan pembagian 45 embrio 2PN dan 25 embrio 3PN. Frekuensi aneuploidi pada sampel 2PN dan 3PN berturut turut 42% dan 4%, sedangkan mosaik 2PN 16% dan 3PN 8%, pada embrio 3PN juga didapati kromosom triploid sebesar 52%. Didapatkan hubungan bermakna antara grade tropektoderm embrio 2PN dengan status kromosom (p<0,05), sedangkan embrio 3PN tidak didapati hubungan antara parameter morfologi dengan kromosom. Blastokista dengan grade ³3AA memiliki persentase euploidi sebesar 46%. Usia maternal, usia paternal, jumlah oosit, laju fertilisasi, volume dan motilitas sperma berhubungan dengan status kromosom (p<0,05). Kesimpulan: Grading blastokista berhubungan dengan status kromosom, dan usia maternal merupakan faktor yang paling berhubungan dengan kejadian aneuploidi dan mosaik.

---

ABSTRACT
Background: Several method of assessing embryo viability have been employed over these year to obtain single embryo transfer in IVF cycle. Blastocyst, known as the best morphological embryo derived from both normal or 2 pronucleus (2PN) and 3 pronucleus (3PN) still not give the best implantation and pregnancy rate. However, morphology assesment only did not properly evaluate chromosomal status of the embryos. A good morphology blastocyst still can harbour aneuploidy and mosaic, and it is needed to find factor that effect aneuploidy and mosaic. Therefore, the aim of this study was to investigate the correlation between blastocyst morphology with aneuploidy, mosaicism and other related factor. Methods: A cross-sectional study to compare blastocyst morphology with chromosomal status. Embryo collected from IVF-ICSI cyles then cultured until blastocyst stage, Blastocyst scoring was done by Gardner scoring system with 3 parameter including blastocyst expansion, inner cell mass and tropectoderm. Preimplantation genetic testing for aneuploidi (PGT-A) was done by tropectoderm biopsy on day 5 or 6 which were the screened for chromosomal status by Next Generation Sequencing (NGS) method. The relationship between blastocyst morphology and chromosomal status and other related factor were evaluated. Results: A total 70 blastocyst were collected, 45 derived from 2PN zygot and the other 25 from 3PN zygot. The frequency of aneuploid in 2PN and 3PN continuosly 42% and 4%, meanwhile mosaic frequency were 15% and 8%. Triploidy chromosome were found 52% in 3PN embryo. Tropectoderm grading and chromosomal status was found significally different (p<0.05), while in 3PN embryo there in no correlation between blastocyst morphology and chromosomal status. >3AA blasctocyst grading had higher euploidy percentage compare to <3AA grading. Maternal age, oocyte number, fertilization rate, sperm volume and sperm motility have correlation with chromosomal status (p<0.05). Conclusions: Blastocyst grading had correlation with chromosomal status, and maternal age is the key factor that affect aneuploidy and mosaicism.

Abstrak :

Pendahuluan: Kelainan kromosom meningkat secara eksponensial pada ibu usia lanjut dan prevalensi dapat mencapai hingga 80% pada wanita usia 40 tahun. Oleh karena itu, PGT-A telah digunakan di rumah sakit pada pasien IVF, untuk mencegah konsekuensi yang timbul dari kelainan genetik dan mengoptimalkan hasil klinis. Faktor ibu dan faktor laki-laki yang berhubungan dengan kesuburan telah dikaitkan dengan penemuan embrio aneuploid di PGT-A, namun data masih sedikit. Tujuan penelitian ini adalah menganalisis pengaruh usia ibu, penilaian embrio, konsentrasi sperma, dan motilitas sperma pasangan terhadap hasil PGT-A. Metode: Penelitian cross-sectional ini menggunakan data rekam medis dan buku embriologi Klinik Yasmin Kencana. Sebanyak 35 pasien IVF dengan embrio tunggal yang telah menjalani PGT-A dianalisis menggunakan uji Kruskal Wallis untuk kemungkinan pengaruh usia ibu, penilaian embrio, konsentrasi sperma, dan motilitas sperma pasangan, terhadap hasil PGT-A. Untuk mengidentifikasi faktor terkuat yang terkait dengan tingkat aneuploidi, dilakukan analisis regresi logistik multivariat. Hasil: Usia ibu (p=0,033), penilaian embrio (p=0,002), konsentrasi sperma (p=0,002) dan motilitas sperma (p=0,008), memiliki hubungan yang signifikan secara statistik dengan hasil PGT-A. Faktor terkuat dalam memprediksi hasil PGT-A pasien IVF adalah penilaian embrio (B=0.593, OR=1.809, 95% CI, 0.286-0.683, p<0.001). Kesimpulan: Penelitian ini menemukan bahwa usia ibu, penilaian embrio, konsentrasi sperma dan motilitas sperma mempengaruhi hasil PGT-A. ......Introduction: Chromosomal abnormality increases exponentially in advanced maternal age and reaches up to 80% prevalence in women ages 40. For this reason, PGT-A has been utilized in hospital settings for IVF patients, to prevent consequences arising from genetic anomalies and optimize clinical outcomes. Maternal factors and fertility-related male factors have been associated with finding an aneuploid embryo in PGT-A, yet data remain scant. The aim of this study was to analyze the influence of maternal age, embryo grading, partner’s sperm concentration and sperm motility on PGT-A results. Method: This cross-sectional study used data from Yasmin Kencana Clinic medical record and embryology book. A total of 35 single-embryo IVF patients who had undergone PGT-A were analyzed using the Kruskal Wallis test, for the possible influence of maternal age, embryo grading, partner’s sperm concentration and sperm motility on PGT-A results. For the identification of the strongest factor associated with aneuploidy rates, multivariate logistic regression analysis was performed. Results: Maternal age (p=0.033), embryo grading (p=0.002), sperm concentration (p=0.002) and sperm motility (p=0.008), have a statistically significant relationship with the PGT-A results. The strongest factor in predicting PGT-A results of IVF patients is embryo grading (B=0.593, OR=1.809, 95% CI, 0.286- 0.683, p<0.001). Conclusion: This study found that maternal age, embryo grading, sperm concentration and sperm motility influence PGT-A results.