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Retrospective and Prospective Analysis of 28 Cases Applied Prenatal Diagnostic Methods Because of Neural Tube Defect Risk

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Abstract

Prenatal diagnosis was performed in mothers delivered of an infant with a neural tube defect (NTD) previously. 23 cAses were analysed retrospectively and 5 cases in prospectively, diagnosing NTD in utero by means of determining matemal serum alpha-fetoprotein (MS-AFP) levels and ultrasound (USG). 6 cases of NID detected in utero. Ali cases of NTD demonstrated elevations in MS-AFP over 2,5 of multible of median (MOM), however, these data has been found questionable because of insuffident number of cases. it was concluded that diagnostic USG 85 % sentitive and 95 % spesific for the diagnosis of NTD in utero.

    .
    
    
 
Ziya BAT AROGLU•, Sevim BALCI0
 
   
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
 
 
        

          
         
        


           

       


       
         
        



         


        


 
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
        
 
         


 
      
       
        





        
        
 

         
     



 
 

GEREÇ VE YONTEM
       


 
 



 
 
       
  

       

       

  
BULGULAR
         


          
       
  
      

      
    
        
        
         
         
        
  


    
  
 R    
 R   
 R    
 R    
    
 
 R   
  
 R   
  
 R    
 p   
 R   
 R   
   



TABLO III
    

  
 
  
  
 

 
  


  
12


 

  
  
  
  
  
  




1







 
TARTIŞMA
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 
        
 
       
 

         
     
       
      
  



       
       
        


       
        
   
       

       
     

        

        
      

KAAKLAR
         

     
       
   
     

  


 
  
  
 
    

     

  

 
 
      
  
 
 
      


 

   

  
     
   

 
 
    
 
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Article
10,000 liveborn babies resulting from preg nancies of 28 of more weeks were examined by a team of 3 pediatricians, 1 orthopedic surgeon, 1 pediatric cardiologist, and 1 urologist in order to find the incidence of various congenital malformations. Relatively high incidence rates for imperforate anus and polydactyly were encountered (1.1 and 2.6/1,000 births, respectively). The rates for anencephaly and congenital heart disease were also found to be somewhat higher than those reported for most white populations.
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A total of 12,084 patients participated in a maternal serum alpha-fetoprotein (AFP) screening program in central North Carolina between July 1, 1978, and June 30, 1982. Fifteen open neural tube defects were detected and three others were missed, resulting in a detection rate of 83%. With a cutoff of 2.5 times the normal median, 3.7% of patients screened had a single maternal serum AFP elevation, 2.1% had two successive elevations, and 1.2% became candidates for amniocentesis. Of those patients offered amniocentesis, one in 10 was found to have a fetus with a neural tube defect. No normal fetuses have been aborted. Patients with maternal serum AFP elevations were shown to have a substantially increased risk of fetal loss. Low maternal serum AFP levels were also a significant finding and led to recognition of less advanced gestational age, fetal death, or molar pregnancy in a number of cases.
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Serum-alpha-fetoprotein (AFP) levels were measured in more than 15 000 pregnant women in an investigation designed to examine the operational issues entailed in a large-scale population screening programme for antenatal detection of neural-tube defects. The proportion of open neural-tube defects (ONTD) terminated as a result of serum screening was 56.1% (66.6% for anencephaly and 40.7% for open spina bifida). The principle causes of poor efficacy were: failure of pregnant women to undergo screening (18.2% of ONTD were not screened); failure of the screening test to detect ONTD (20.4% of those screened were below the 90th centile); decisions against termination of detected ONTD (14% of ONTD detected by serum AFP were not terminated). Given present practices and knowledge it is doubtful whether overall efficacy levels above 65% for open spina bifida can be achieved under normal service conditions. The establishment of a regional or national screening programme on grounds of clinical efficacy alone may be premature. The decision would seem to hinge principally around a careful consideration of the economic issues. KIE In 1976, the Department of Health and Social Security provided funding to the South Wales Anencephaly and Spina Bifida Screening Group to examine the operational issues entailed in a large-scale screening program for prenatal detection of neural tube defects. The results of the study of serum alpha-fetoprotein levels in 15,000 pregnant women are reported. It is concluded that the establishment of a regional or national screening program on grounds of clinical efficacy alone is probably premature.
Article
Twenty-two cases of open neural tube defect were found in a population of 17,703 unselected pregnancies (1.2 per 1000) within the Long Island, New York, region. Voluntary screening of maternal serum alpha-fetoprotein levels identified 20 of the 22 cases (91%). Six hundred ninety-two participants demonstrated serial elevations in maternal serum alpha-fetoprotein. Of this group, which was designated at increased risk for open neural tube defect, 24% had underestimated gestational age, 13% had multiple gestations, and 53% were candidates for amniocentesis. In the amniocentesis group, the detection yield of neural tube defect was 20 per 365 (5.5%). Neither false-negative amniotic fluid evaluations nor termination of normal pregnancy due to false-positive amniotic fluid levels occurred. Perinatal outcome data, including pregnancy complications, date, mode of delivery, sex, birth weight, Apgar score, and congenital malformations of the neonate other than neural tube defect, are reported for the first 9300 consecutive participants of the 17,703 population study. These data identify a correlation between rate of perinatal loss and maternal serum alpha-fetoprotein levels.
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Prevention may be primary, that is the removal of hazards, or the protection of the individual against the hazard; or secondary, that is the prevention of further progression of an impairment to disability or handicap. The latter often follows screening for early cases of disease or impairment. In childhood it may be possible to prevent or reduce hazards which are likely to lead to adult disease, and positive health promotion may have an important part to play in improving adult, as well as childhood health.
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The prenatal diagnosis of anencephaly and spina bifida (neural tube defect, NTD) through amniotic fluid analysis for alpha-fetoprotein (AFP) is gradually gaining clinical recognition. AFP concentrations were determined in 237 amniotic fluids from normal pregnancies ranging between 7 and 42 weeks of gestation. A steady decline in AFP from 26 mug/ml at 7-9 weeks to 155 ng/ml at term is observed. AFP concentration was determined in 35 amniotic fluids from 33 confirmed neural tube defective pregnancies. In 14 cases where amniotic fluid was examined prior to the 26th week of gestation. AFP was markedly elevated when compared with the normal range of the same gestational period. In 21 amniotic fluids past the 26th week, 17 cases (85-) had markedly elevated AFP levels; however, 2 cases of anencephaly, 1 of spina bifida, and 1 of hydrocephaly gave levels within the normal range. It is concluded that elevated AFP in the amniotic fluid is a reliable but nonspecific marker for open neural tube defects prior to the 26th week of pregnancy, but may become normal after the 26th week in a small percentage of patients.
Article
Neural tube defects represent some of the most common and serious of the congenital malformations. Although elevation of alpha-fetoprotein in amniotic fluid is not diagnostic, it does indicate an abnormality of the fetus in a very high proportion of cases. A normal level, however, does not exclude the possibility of a closed neural tube defect. It is therefore recommended that all amniocenteses performed between 15 and 20 weeks of gestation include measurement of alpha-fetoprotein. Maternal serum alpha-fetoprotein assay is a screening test and pilot studies will be necessary to determine its value as a routine prenatal blood test.
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With high-resolution ultrasound equipment, it is now possible to diagnose certain fetal anomalies in the third trimester and in some cases before the twentieth week of gestation. During a 27 month period 2,548 ultrasound scans were performed in high-risk patients. An anomaly was diagnosed in 10 of 122 second-trimester patients who were at risk for recurrent fetal defects. Fetal deformity was also found in 26 third-trimester patients. Of the 2.8% of patients found to have polyhydramnios 18% were associated with various types of anomaly. With ultrasound it was possible to examine internal fetal anatomy and to identify abnormalities of the fetal cranium, spine, chest, abdomen, and limbs. These anomalies are reviewed here in detail. Based on ultrasonically derived information, second-trimester patients can be offered information concerning the status of their fetuses at risk genetically and physicians can better manage third-trimester patients with diagnosed fetal deformities.