scholarly journals A Dual Gender Rare Case with 47,XY, + 18/46,XX Karyotype: Chimera or Mosaic?

2021 ◽  
Vol 11 (01) ◽  
pp. e41-e44
Author(s):  
Ravindran Ankathil ◽  
Foong Eva ◽  
Zulaikha Abu Bakar ◽  
Nazihah Mohd Yunus ◽  
Nurul Alia Nawi ◽  
...  

Our objective is to report one rare case of dual gender chimerism involving abnormal male trisomy 18 and normal female karyotype. The baby was born full term with birth weight of 1.8 kg, not vigorous with light meconium stained liquor and Apgar score of 51, 85 and 910. Parents are 40 years old and mother is G6P5 + 1. The baby had clinical features of Edwards syndrome, and a blood sample was sent to Human Genome Centre, Universiti Sains Malaysia, Malaysia for cytogenetic analysis. Conventional cytogenetic analysis results showed two distinct sex discordant genetic cell lines XY and XX in 90:10 ratio. The male genetic cell line XY also showed trisomy 18 (47,XY, + 18) consistent with clinical diagnosis of male Edwards syndrome, whereas the second genetic cell line showed normal 46,XX female. The present case was reported as dual gender chimera with chi 47,XY, + 18/46,XX karyotype pattern. To the best of available knowledge, dual gender chimerism with abnormal male trisomy 18 and normal female karyotype has not been reported so far, and this case is reported for its rarity and as the first report.

Author(s):  
Yusrawati Yusrawati ◽  
Reno Muhatiah

Objective: To report a rare case of Beckwith-Wiedemann Syndrome with polyhydramnios. Methods: Reporting a case of Beckwith-Wiedemann syndrome with polyhydramnios. Results: Case of Mrs. Y, 27 years old woman, G2P1A0L1 preterm pregnancy (30-31 weeks) with polyhidramnios. From ultrasound found renomegaly, bilateral hyperechogenic polycystic kidney, and the karyotype result was 46,XX. Caesarean section was performed due to fetal distress. A female baby was born by caesarean section with birth weight of 1300 grams, 37 centimeters of body length, and APGAR score of 6/8. The congenital anomalies found were hepatomegaly, renomegaly, bilateral hyperechogenic renal polycystic, low set ears. The baby was died in NICU on day care 5th, with suspected of sepsis. Conclusion: Prenatal diagnosis of Beckwith-Wiedemann syndrome on fetus with polyhydramnios. [Indones J Obstet Gynecol 2017; 5-3: 185-188] Keywords: amniocentesis, beckwith-wiedemann syndrome, polyhydramnios, prenatal diagnostic, USG


2015 ◽  
Vol 10 (1) ◽  
pp. 89-93
Author(s):  
R Joshi ◽  
G Baral

Aims: The purpose of this study was to determine the perinatal outcome of the second twin compared to the first one. Methods: This is a hospital based comparative study of 60 pregnant women with twin pregnancy at Paropakar Maternity and Women’s Hospital, Kathmandu from 14 January 2013 to13 April 2013. Apgar score and admission to neonatal intensive care unit of the first and the second twins were studied in relation to the gestational age, chorionicity, mode of delivery, inter-delivery interval and birth weight. Mc Nemars test was used with 0.05 as the level of significance. Results: Among 60 sets of twins, Apgar score of the second twin was found to be lower than the first one (p=0.02) in general and in preterm gestation (p=0.049), dichorionic diamniotic chorionicity (p=0.012), vaginal delivery (p<0.001), inter-delivery interval of <30 minutes (p=0.007) and birth weight discordance of <30 % (p=0.014). Admission to neonatal intensive care unit was not significant (p=0.5). Conclusions: Second twin had low Apgar score and the neonatal admission rate was similar for both twins. 


2022 ◽  
Vol 7 (2) ◽  
pp. 89-98
Author(s):  
Fatemeh Mirzaie ◽  
Khadije Rezaie Keikhaie ◽  
Mahin Badakhsh ◽  
Bahareh Khajehpourbahareh ◽  
Samira Ghofrani ◽  
...  

1986 ◽  
Vol 192 (3) ◽  
pp. 176-178 ◽  
Author(s):  
Jacob Pe’er ◽  
John T. Braun

Author(s):  
Anna Cantarutti ◽  
Federico Rea ◽  
Matteo Franchi ◽  
Benedetta Beccalli ◽  
Anna Locatelli ◽  
...  

Background: Limited evidence is available on the safety and efficacy of antimicrobials during pregnancy, with even less according to the trimester of their use. Objective: This study aimed to evaluate the association between exposure to antibiotics therapy (AT) during pregnancy and short-term neonatal outcomes. Methods: We considered 773,237 deliveries that occurred between 2007–2017 in the Lombardy region of Italy. We evaluated the risk of neonatal outcomes among infants that were born to mothers who underwent AT during pregnancy. The odds ratios and the hazard ratios, with the 95% confidence intervals, were estimated respectively for early (first/second trimester) and late (third trimester) exposure. The propensity score was used to account for potential confounders. We also performed subgroup analysis for the class of AT. Results: We identified 132,024 and 76,921 singletons that were exposed to AT during early and late pregnancy, respectively. Infants born to mothers with early exposure had 17, 11, and 16% increased risk of preterm birth, low birth weight, and low Apgar score, respectively. Infants that were exposed in late pregnancy had 25, 11, and 13% increased risk of preterm birth, low birth weight, and low Apgar score, respectively. The results were consistent in the subgroup analysis. Conclusion: Our results suggested an increased risk of several neonatal outcomes in women exposed to ATs during pregnancy, albeit we were not able to assess to what extent the observed effects were due to the infection itself. To reduce the risk of neonatal outcomes, women that are prescribed AT during pregnancy should be closely monitored.


2019 ◽  
Author(s):  
Alemwork Desta Meshesha ◽  
Muluken Azage ◽  
Endalkachew Worku ◽  
Getahun Gebre Bogale

Abstract Background Globally, every year, 2.5 million infants die within their first month of life. Neonatal asphyxia is the leading specific cause of neonatal mortality in low- and middle-income countries, including Ethiopia. Therefore, the aim of this study was to identify the determinants of birth asphyxia among newborns admitted in Amhara region referral hospitals, Ethiopia. Methods Facility-based unmatched case-control study was employed among 193 cases and 193 controls of newborns. Newborns admitted to neonatal intensive care units with admission criteria of birth asphyxia and without birth asphyxia were considered as cases (Apgar score<7) and controls (Apgar score>=7) respectively. Data were collected using a structured questionnaire by systematic random sampling technique with proportional allocation, and entered in to Epi-Info version 7 and exported to SPSS version 20 for statistical analysis. Bivariate and multivariable logistic regression models were fitted to identify determinants of birth asphyxia. Results Newborns with low birth weight (<2.5kg) had 8.94 higher odds of birth asphyxia than those whose weight at birth was >=2.5kg at birth (AOR: 8.94, 95% CI: 4.08, 19.56). Newborns born at health centers were 7.36 times more likely to develop birth asphyxia than those born at hospitals (AOR: 7.36, 95% CI: 2.44, 22.13). Newborns born using instrumental delivery were 3.03 times more likely to develop birth asphyxia than those delivered by vaginally (AOR: 3.03, 95% CI: 1.41, 6.49). Newborns from mothers with prolonged labor were 2 times more likely to suffer from birth asphyxia as compared to their counterparts (AOR: 2.00, 95% CI: 1.20, 3.36). Conclusion This study identified prolonged labor, instrumental delivery, delivered at health centers, and low birth weight were identified as determinants of birth asphyxia. Thus, intervention planning towards the identified determinants may be needed to reduce neonatal birth asphyxia.


2020 ◽  
Author(s):  
Mussie Mulugeta Gebremedhin ◽  
Mengistu Welday Gebremichael ◽  
Berhane Gebreegizabiher Gebremichael ◽  
Mihrete-ab Mehari Reda ◽  
Tesfay Adhena Hailu ◽  
...  

Abstract BACKGROUND: The Apgar score is a method to quickly summarize the health of newborn children. It establishes a simple and clear classification of newborns, which could be used to predict survival and to compare methods of resuscitation and perinatal experience across hospitals and obstetric practices. Low Apgar score is associated with various immediate and long-term adverse health outcomes of newborns. Hence; in order to decrease the risk/complications, identifying the determinant factors of low Apgar is crucial to act on the modifiable risk factors. This study is aimed to investigate the determinant factors of a low Apgar score in newborn children.METHOD: The study was conducted in Lemelem Karl general hospital; northern Ethiopia. An institutional-based unmatched, case-control study was implemented. Data were retrieved from medical charts of 662 newborns’ mothers who gave birth in the hospital from Sep 2014 to Sep 2017. Among these, 221 of them were cases (charts of mothers whose newborns’ fifth minute Apgar score was <7) and 441 of them were controls (charts of mothers whose newborns’ Apgar score was 7 and above). Data was collected using a pretested and structured checklist using systematic sampling and data was entered & analyzed using SPSS version 20. Binary and multivariable logistic regression was done to determine the association and statistical significance was declared at P-value of ≤0.05. RESULTS: This study revealed that low Apgar score was significantly associated with antepartum hemorrhage [Adjusted odss ratio (AOR) 3.509; 95% confidence interval (CI) 1.526-8.067), P= 0.003], pregnancy-induced hypertensive disorders [AOR 2.69; 95% CI (1.351-5.357), P= 0.005], prolonged second stage of labor [AOR 2.63; 95% CI (1.399-4.944), P= 0.003], Cesarean delivery [AOR 2.005; 95%CI (1.223-3.287), P= 0.006],meconium-stained liquor [AOR 6.955; 95% CI (3.721-13.001), P<0.001], and low birth weight [AOR 4.38; 95% CI (2.216-8.657), P<0.001].CONCLUSION: Result from this study showed a remarkable linkage of low Apgar score with antepartum hemorrhage, pregnancy-induced hypertensive disorders, meconium-stained liquor, and low birth weight. Therefore, meticulous antenatal care and labour management service are recommended to prevent low Apgar score and the concomitant neonatal death.


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