DESIGN AN “IN-HOUSE” SOFTWARE FOR CALCULATING THE RISK OF TRISOMY 21, TRISOMY 18 AND OPEN NEURAL TUBE DEFECTS IN THE GESTATIONAL AGED 15 – 22 WEEKS

2011 ◽  
pp. 112-126
Author(s):  
Keyword(s):  
Down Syndrome ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Trisomy 21 ◽  
Parametric Method ◽  
Serum Markers ◽  
Maternal Serum ◽  
Trisomy 18 ◽  
Edwards Syndrome ◽  
Microsoft Office

Objectives: Design an “in-house” software for calculating the risk of fetus has Down syndrome, Edwards syndrome and open neural tube defects in prenatal screening at the gestational aged 15-22. Methods: Based on the Excel program of Microsoft Office and the articles with the Excel of Microsoft Office and related published articles, we design an “in-house” software based on maternal age, gestational age, history of having children with chromosomal aberrations and adjusted maternal serum markers AFP, hCG and uE3. The results were compared with the results of Prisca software by non-parametric method. Results: In cases having the risk of trisomy 21 with the range from 1/251 to 1/350: the risk tends to be lower than Prisca (83.7%). In cases having the high risks of trisomy 21 in screening but the results of prenatal diagnosis are not trisomy: the risks of “in house” software are lower than the risks of Prisca (73%) with 29% of cases has the risks less than 1/250 . In cases of trisomy 18 with the risks are lower than 1/150: there are no statistical significant differences between the two softwares (P<0.05). In screening open neural tube defects, the cases have the threshold higher than 1.50 MoM AFP: The results in the “in house” software tend to higher than Prisca (94%). The cases have the threshold lower than 1.50 MoM AFP: Where the disability screening of neural tube openings with thresholds lower than 1.5 MoM AFP: there are no statistical significant differences between the two softwares (P<0.05). Conclusion: The “in house” software has all the necessary functions for calculating the risk of Down syndrome, Edwards syndrome and open neural tube at the gestational aged 15-22.

DESIGN AN “IN-HOUSE” SOFTWARE FOR CALCULTING THE RISK OF TRISOMY 21 AND OPEN NEURAL TUBE DEFECTS IN THE GESTATIONAL AGE 15 – 22 WEEKS

2012 ◽  
pp. 25-36
Author(s):  
Phan Tuong Quynh Le ◽  
Viet Nhan Nguyen
Keyword(s):  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Gestational Age ◽  
Trisomy 21 ◽  
Prenatal Screening ◽  
Trisomy 18 ◽  
Edwards Syndrome ◽  
Microsoft Office

Objectives: Design an “in-house” software for calculating the risk of fetus has Down syndrome, Edwards syndrome and open neural tube defects in prenatal screening at the gestational age 15-22. Methods: Based on the Excel program of Microsoft Office and the articles with the Excel of Microsoft Office and the related articles have been published. Results: In cases have the risk of trisomy 21 with the range from 1/251 to 1/350: the risk tends to be lower than Prisca (83.7%). In cases have the high risks of trisomy 21 in screening but the results of prenatal diagnosis are not trisomy: the risks of “in house” software are lower than the risks of Prisca (73%) with 29% of cases has the risks less than 1/250. In cases of trisomy 18 with the risks are lower than 1/150: there are statistical significant differences between the two softwares (P <0.05). In screening open neural tube defects, the cases have the threshold higher than 1.50 MoM AFP: The results in the “in house” software tend to higher than Prisca (94%). The cases have the threshold lower than 1.50 MoM AFP: Where the disability screening of neural tube openings with thresholds lower than 1.5 MoM AFP: there are no statistical significant differences between the two softwares (P >0.05). Conclusion: The “in house” software has all the necessary functions for calculating the risk of Down syndrome, Edwards syndrome and open neural tube at the gestational age 15-22.

Maternal Serum Screening for Downs Syndrome, Open Neural Tube Defects and Trisomy 18

2001 ◽  
Vol 39 (6) ◽  
Author(s):  
S. Halide Akbas ◽  
Tomris Özben ◽  
Özgül Alper ◽  
Aysegül Ugur ◽  
Gültekin Yücel ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Maternal Serum ◽  
Trisomy 18 ◽  
Maternal Serum Screening ◽  
Downs Syndrome ◽  
Serum Screening

scholarly journals A Case of Prenatal Diagnosis of Trisomy 18 with Ultrasound

2016 ◽  
Author(s):  
Yusrawati Yusrawati ◽  
Yudha M Kartika
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Hernia ◽  
Chromosome Analysis ◽  
Serum Markers ◽  
Maternal Serum ◽  
Trisomy 18 ◽  
Term Pregnancy ◽  
Edwards Syndrome ◽  
Umbilical Hernia Repair ◽  
Female Baby

Objective: To report a case of trisomy 18 diagnosed in prenatal care. Methods: Case report. Case: A 24 years old primigravida woman was diagnosed with term pregnancy (37-38 weeks) with an intrauterine singleton live fetus with Edwards syndrome. In 15-16 weeks of pregnancy the omphalocele was discovered using ultrasound. Subsequently, amniocentesis was performed and the chromosome analysis result showed Edwards syndrome (47, XX +18). The patient chose to continue the pregnancy until term. In this patient, elective CS was performed at term pregnancy, involving teamwork between obstetrics and perinatology. A female baby was born weighing 1720 grams, 40 cm body length, and APGAR score of 5/7. The congenital anomalies discovered include umbilical hernia, rocker bottom feet, clenched hands, low set malformed ears, and a single umbilical artery. The baby was born with asphyxia, improved after resuscitation, and required treatment in the NICU. Pediatric surgeons planned umbilical hernia repair. Furthermore, because of the presence of suspected esophageal atresia, the baby was planned for gastrotomy, which was delayed because the baby was experiencing desaturation. Because of the unstable condition of the baby, echocardiography and gastrotomy were not done until the 18th day of treatment. At the 18th day, the baby’s condition deteriorated and the baby died with metabolic acidosis. Conclusion: Edwards syndrome can be diagnosed in the prenatal period by risk factors consideration, maternal serum markers, and ultrasonographic identification of organ abnormalities. [Indones J Obstet Gynecol 2015; 3-4: 234-238] Keywords: Edwards syndrome, prenatal diagnosis, trisomy 18, ultrasound

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