1.Genetic Counseling.
Journal of the Korean Pediatric Society 1998;41(3):293-293
2.The impact of genetic counseling on performance of prenatalcytogenetic diagnosis.
Sei Kwang KIM ; Yeoung Ho YANG ; Chan Ho SONG
Korean Journal of Obstetrics and Gynecology 1992;35(12):1742-1748
No abstract available.
Diagnosis*
;
Genetic Counseling*
4.The Role of Genetic Counseling in the Management of Prenatally Detected Congenital Heart Defects.
Korean Journal of Perinatology 2002;13(3):254-259
No abstract available.
Genetic Counseling*
;
Heart Defects, Congenital*
5.A case study of Mosaic Trisomy 13 in a 2-year-old Filipino child
Carmencita D. Padilla ; Patrick Jose D. Padilla ; Lourdes Bernadette S. Tanchanco ; Myrian R. de la Cruz ; Edsel G. Salonga
Acta Medica Philippina 2020;54(4):435-441
Mosaic trisomy 13 is estimated to occur in 5% of all trisomy 13 cases. Presentation of trisomy 13 mosaicism is highly variable, with cases that may present with a normal phenotype and intellectual function, to cases with grossly abnormal features and profound developmental delays. We present a 2-year-old female with trisomy 13 mosaicism, who presented with small for gestational age (SGA), polydactyly, ventricular septal defect (VSD), and poor oral feeding.
Trisomy 13 Syndrome
;
Genetic Counseling
10.Filipino midwives’ knowledge, self-perceived role and experiences in educating parents of families with newborns who are confirmed cases of glucose 6 phosphate dehydrogenase deficiency
Romer J. Guerbo ; Carmencita D. Padilla ; Mercy Y. Laurino ; Ellen S. Regalado ; Catherine Lynn T. Silao ; Ernesto R. Gregorio, Jr.
Acta Medica Philippina 2020;54(4):394-399
Introduction:
Midwives play an important role in promoting newborn screening (NBS) and they ensure that all Filipino newborns are offered screening for life-threatening metabolic conditions. Of the disorders included in NBS, Glucose 6 Phosphate Dehydrogenase (G6PD) deficiency is the most common disorder detected.
Objectives:
This study aimed to assess the knowledge, self-perceived role, and experience of midwives who practice in urban and rural settings in educating parents of a newborn who are confirmed cases for G6PD deficiency.
Method:
One-on-one semi structured interview was conducted among 21 midwives from Manila City and Lipa, Batangas, Philippines.
Results:
The study findings indicate that midwives frequently serve as the primary information resource for parents of infants with G6PD deficiency. Assessment of knowledge showed that midwives have sufficient knowledge about the medical management and the necessary follow-up of infants with G6PD deficiency. However, it also revealed that they have inadequate knowledge of the underlying genetic cause of G6PD deficiency. The surveyed midwives recognized their role and the importance of proper education regarding G6PD deficiency.
Conclusion
The findings of this study identified gaps in the midwives’ knowledge on the genetic mechanisms and inheritance of G6PD deficiency, which could be a basis to improve the education and dissemination of information and to eventually improve parental education and care of newborns with G6PD deficiency
Genetic Counseling
;
Glucosephosphate Dehydrogenase Deficiency
;
Neonatal Screening
Result Analysis
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