Large ; Will to Live

Fetal teratomas rarely complicate pregnancy,having an incidance of only 20,000:1 to 40,000:1 of live births. Overthere, cervical teratomas are rare and accounts for only 5.5% of all neonatal teratomas. We have experienced a large cervical immature teratoma and present this case with a brief review of literatures.
Live Birth ; Teratoma*

Background: Pre-implantation Genetic Testing for Aneuploidy (PGT-A) has enabled IVF specialists to screen embryos for abnormalities in chromosome number and structure. Subsequently, healthy embryos are selected for transfer, decreasing the rate of spontaneous miscarriages and improving pregnancy outcomes. In spite of this, almost only half of the PGTdetermined euploid embryos result in a pregnancy. Objective: This study aimed to determine what other factors among euploid embryo transfers will have an association with successful implantation and live birth. Methods: This study retrospectively analyzed 159 IVF-PGS cycles performed in CARMI SLMCGC from January 2017 to December 2019. Of these, a total of 231 euploid embryos (86 single embryo transfers and 73 double embryo transfers) were assessed. The relationship of eight predictive variables (maternal age, maternal BMI, etiology of infertility, history of failed IVF, blastocyst expansion stage, ICM grade, TE grade and endometrial thickness on transfer) with regard to the outcome of successful implantation and live birth among single or double euploid blastocyst transfers were determined via logistic regression analysis. Results: Overall, the implantation rate was significantly lower when using B-grade ICM or C-grade ICM blastocysts as compared to A-grade ICM blastocysts (OR 0.54, 95% CI 0.356- 0.815, p = 0.003). With regard to live birth rate, the success of transfer is statistically lower when using a B-grade or C-grade ICM blastocysts as compared to A-grade ICM blastocysts (OR 0.55, CI 0.354-0.863, p = 0.009). Other predictive factors such as maternal age, maternal BMI, etiology of infertility, number of previous IVF, blastocyst expansion stage, trophectoderm grade and endometrial thickness had no apparent effect on the outcome of implantation and live birth. Conclusion Present study results suggest that only the ICM grade of euploid blastocysts correlates with implantation and live birth in IVF-FET cycles. Therefore, the selection of euploid blastocysts based on the presence of a higher grade ICM is the most predictive factor that determines success among those undergoing IVF with PGT-A.
Live Birth ; Genetic Testing

Fetal teratomas are histologically diverse masses containing variety of tissues foreign to the anatomic site in which they reside. Sacrococcygeal teratomas are the most common and account for 50% of neonatal teratoma. Faciocervical teratomas are rare and accounts for only 5.5% of all neonatal teratoma, having an incidence of only 20,000:1 to 40,000:1 of live births. Immature teratoma was composed of poor differentiated or embryonal tissue which coexisted mature tissue and immature tissue was originated from neuroepithelium. We have experienced a large faciocervical teratoma and present this case with a brief review of literatures.
Incidence ; Live Birth ; Pregnancy* ; Teratoma* ; Ultrasonography*

Craniofacial clefts are rare, mysterious and variable congenital anomalies. The incidence of craniofacial clefts is at least 1 per 100,000 live births. The cause of craniofacial clefts remains obscure, and attempts to classip craniofacial clefts are replete with problems. Tessier presented his classification in 1973 and used the orbit to distinguish the facial clefts from the cranial clefts. He noted that those lesions that involve both the face and cranium tend to do so in a consistent, predictable fashion. The clefts are numbered from 0 to 14 and are oriented around the orbit like spokes of a wheel. Van der Meulen proposed a classification in 1983 on an embryologic basis. The term dysplasia was used instead of cleft, since some of the malformations do not represent true clefts. Between 1997 to 1998, authors experienced 3 cases of median and paramedian facial cleft. One was No.2 facial cleft and the others were No.0-14 facial cleft with orbital hypertelorism. Their ages ranged from 1 to 5 years.
Classification ; Hypertelorism ; Incidence ; Live Birth ; Orbit ; Skull

We report a case of neurofibroma in penis associated occurs with a frequency of one case per three thousand live births and should be considered a chronic progressive systemic disorder with involvement of multiple organ systems, but urinary tract is an frequent site of involvement.
Live Birth ; Male ; Neurofibroma ; Neurofibromatoses* ; Penis* ; Urinary Tract

Rudimentary horn is a rare uterine anomaly and pregnancy in the rudimentary horn is an extremely rare condition. We report a case of live birth in a non-communicating rudimentary horn pregnancy and rupture. The pregnancy was successfully delivered by cesarean section, with neonatal and maternal survival.
Animals ; Cesarean Section ; Female ; Horns ; Insemination ; Live Birth ; Pregnancy ; Rupture

An unusual case is presented as bilateral, complete digital duplication of the hand in a 32-year-old man. Radiographic evaluation showed complete duplication of intact phalanges and metacarpal bones in both hands. Although polydactyly of the hand is reported to occur among approximately 1 in 1000 live births, most of these malformations are rudimentary skin tags. Complete postaxial polydactyly is uncommon; it occurs in approximately 0.014% of all live births. The main goal of the surgical treatment is to establish adequate function and appearance. This case reports the preoperative evaluation and management of bilateral postaxial type III duplication of the fingers.
Adult ; Fingers ; Hand ; Humans ; Live Birth ; Metacarpal Bones ; Polydactyly* ; Skin

Polydactyly is the most common congenital difference of the hand and foot presenting as a range of defects from minor soft tissue duplications to major bony abnormalities. Although polydactyly of the hand is reported to occur among approximately 1 in 1,000 live births, the co-occurrence of hand polydactyly on hands and polydactyly on feet is as rare as one out of 100,000 persons. We report a case of hand and foot polydactyly in twins. One of the twins had polydactyly on both hands and feet, the other had polydactyly on the right hand and both feet. Postaxial polydactyly in monozygotic twins appears on both hands and feet in a different form shows that polydactyly is caused by multiple factors. It has been reported that the mother's infection and drug in addition to hereditary factors are the causes for polydactyly, but since they are unknown yet, it is necessary to conduct a study of them.
Foot* ; Hand* ; Humans ; Live Birth ; Polydactyly* ; Twins ; Twins, Monozygotic*

Retinoblastoma is the most common intraocular malignancy in young children, arising in approximately 1 per 20,000 live births. Although it is established that the functional loss of both alleles of the RB1 gene is a prerequisite for the development of retinoblastoma, little is known about the genetic events that are required for tumor progression. To screen the genomic aberrations, two retinoblastoma cell lines, Y-79 and WERI-Rb-1, were analysed by using array-CGH. As a result, gains of AHRR, EXOC3, CEP72, TRIP13, TERT, SEMA5A, TAS2R1, MARCH6, CTNND2, CDH12, NHLRC1, TPMT, AOF1, FANCC, NCBP1, XPA, TGFBR1, BAAT, MRPL50, ZNF189, ALDOB, ABCA1, FCMD, TAL2, ZNF462, COL27A1, ORM1, ORM2, AKNA, ASTN2, TRIM32, GSN, STOM, LHX2, PBX3, ABL1, FIBCD1, WNK4, CCDC56, CNT1, BECN1, PSME3, AOC2, LOXHD1, ST8SIA5, SMAD2, KIAA0427, COL18A1, COL6A2, FTCD and LSS were found in both cell lines. Lost clones detected in both cell lines were RB1, ZDHHC3, EXOSC7, CLEC3B, CACNA2D3, DEFB106A, FAM90A6P, FAM90A7, ZMYND11, LARP5, GTPBP4, IDI2, IDI1, KLF6, AKR1CL2, FBXO18, IL15RA, IL2RA, TAF3, GATA3, CUGBP2, DHTKD1, SEC61A2, NUDT5, ITGA8, PTER, C1QL3, RSU1, DNMT2, PTPLA, PLXDC2, NEBL, MLLT10, DNAJC1, PIP5K2A, PRTFDC1, NRP1, PARD3, MGMT, RFP2OS, RFP2, KCNRG, IGHV, CDH19, TXNDC10 and RTTN. Through this study, it is confirmed that many genomic aberrations are involved in the development and progression of retinoblastoma. Genomic profiling of retinoblastoma cell lines by array-CGH revealed numerous imbalanced regions and novel candidate genes. These data provide a basis for more detailed molecular characterization and testing their pathologic roles of these candidates.
Alleles ; Cell Line ; Child ; Clone Cells ; Humans ; Live Birth ; Retinoblastoma