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GYNAECOLOGY AND OBSTETRICS IMAGING Table of Contents   
Year : 2006  |  Volume : 16  |  Issue : 4  |  Page : 831-834
Role of ultrasound in detection of antenatal foetal malformations


Deptt.of Radiodiagnosis, Government Medical College, Amritsar,Punjab, India

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Date of Submission19-Oct-2005
Date of Acceptance08-Oct-2006
 

   Abstract 

Aims and Objectives:The aims and objectives of this study was to detect foetal malformations ultrasonographically ,to evaluate associated anomalies and to evaluate outcome of pregnancy. Material and Methods:The prospective and retrospective study was conducted on 10890 pregnant women. All pregnant women were subjected to US examination by Siemens, Sonoline SL-2 ultrasound machine. using real time system.3.5 MHz transducer. Results: Total 124 foetuses were found to have major congenital malformations.Pregnant women were referred in routine US for foetal well being or risk factor related to foetal malformations.The average incidence of malformations was 1.14% with maximum no. of malformations 96 (77.41%) during 3rd trimester of pregnancy.Majority of cases were in age group 21-25 years (51.6 %) with youngest women of 18 years and oldest 38 years. Most of the foetal malformations were seen in primigravida (45.96 %). During study 52.42% of pregnant women were at risk ofmalformed foetus in form of discrepancy of height of uterus and period of gestation, 47.58% were clinically routine cases.Majority of malformations were detected during 3rd trimester 98(79.04%) with the range of 13-41 weeks and mean gestational age of 31.16 weeks. Most common anomaly was ventriculomegaly 41 cases (27.33%) followed by anencephaly 39cases(26.00%).Neural tube defects accounted for more than 50%of the anomalies with common association withspinal deformities. Polyhydramnios 28 (71.79%) cases was common association with neural tube defects. Oligohydramnios was associated with 4 (66.66%) cases of renal anomalies.Foetal malformations had predilection female fetuses with male to female ratio of 1:1.3 . Spinal abnormalities were common in male fetuses.Overall mortality of malformed.fetuses was 90(72.58%) cases,however in anencephaly, diaphragmatic hernia and hydrops foetalis it was 100%.In skeletal dysplasias it was 80%. Most common site of encephalocele was occipital in 18(94.73%)cases.Most common renal malformation was found to be bilateral hydronephrosis in 4 patients. Skeletal dysplasia was seen in 5 cases with 3 cases had associated pulmonary hypoplasia. Achondroplasia was seen in 3 cases and achondrogenesis in 2 cases. Conclusion:We concluded in our study that ultrasound should be done between 16-20 weeks in routine and earlier in high risk pregnancy. This leaves adequate time for determining the outcome and fate of pregnancy.Hence it would be worth to aware the practitioner about advantage of early scanning in pregnancy.

Keywords: Antenatal,Ultrasound,Fetal malformations.

How to cite this article:
Singh S, Shergill G S, Singh A, Chander R. Role of ultrasound in detection of antenatal foetal malformations. Indian J Radiol Imaging 2006;16:831-4

How to cite this URL:
Singh S, Shergill G S, Singh A, Chander R. Role of ultrasound in detection of antenatal foetal malformations. Indian J Radiol Imaging [serial online] 2006 [cited 2019 Aug 24];16:831-4. Available from: http://www.ijri.org/text.asp?2006/16/4/831/32361

   Introducion Top


The objectives of this study was to sonographically detect foetal malformations and to evaluate associated anomalies and to evaluate outcome of pregnancy.


   Material and Methods Top


The prospective and restrospective study was conducted on 10890 pregnant women. They were subjected to US examination by Siemens,Sonoline SL-2 ultrasound machine using real time system. 3.5 MHz transducers. Total 124 fetuses were having major congenital

malformations during the study.


   Discussion Top


US is highly effective and safe modality for early detection of major foetal malformation as early as 14 weeks of gestation.A brief discussion of various anomalies encountered follows.

Incidence:The incidence of congenital malformations on US was found to be 1.14% as reported earlier.[1]

Age:Most of the female was in the age group of 21-25 years(51.62%) with mean age of 24.24 years as reported [2] and range of 18-38 years.

Gravida:It was found that most of the pregnant women were primigravida (45.96%).

Indication:Our study showed that 52.45% pregnant women who had malformed fetuses had discrepancy between height of uterus and period of gestation.

Period of gestation:Most of the fetal malformations were diagnosed in third trimester (79.63%) with mean age of 30 weeks[2].

No. of malformations:124 malformed fetuses had 150 malformations indicating some fetuses had more than one malformation.

Male to female ratio:Our study showed that 56.66% of malformed fetuses delivered were female and 43.33% were males with male to female ratio of 1:1.13. [2]


   Neural tube defects Top


Neural tube defects include anencephaly, exencephaly, encephalocele, spina bifida and diastematomyelia.During our study percentage of neural tube defects was 53.33% which correlates with the literature[2].

Ventriculomegaly: Ventriculomegaly (Fig.1) was the most common neural tube defect constituting about 41 cases.Isolated ventriculomegaly was seen in 36.77% cases. Most common association was spina bifida[3].

Anencephaly: In our study 39 fetuses showed anencephaly (Fig.2)with incidence of 3.58/1000 pregnant women compared with reported incidence of 3.96/1000 live births[4].It was diagnosed early in second trimester due to routine BPD examinations.

Encephalocele: Encephalocele was seen in 19 cases with incidence of 12.66%.In one case meningocele was associated anomaly. Occipital encephalocele (Fig.3)was most common

94% as reported inpreviuos study.[3]

Spinal anomalies:Spina bifida(Fig.4) with meningocele constituted about 21 cases.Out of these 21 cases 20 (95.24%) had associated anomalies, with hydrocephalus being the commonest.


   Skeletal Dysplasias Top


During our study 5 cases of skeletal dyspalsia were diagnosed. Three cases were that of Rhizomelic dwarfism and 2 cases were that of achondrogenesis . Associated anomalies were hydrocephalus,pulmonary hypoplasia,spina bifida and polyhydramnios[5]


   Anterior abdominal defects Top


Incidence of omphalocele was 1.83/4000 pregnant women in comparison to observed incidence of 1 in 4000-5000 [6]. Incidence of gastroschisis (Fig.5) in our present study was 1.8/10000 pregnant women , reported an incidence of 1 in 10000[7].Mortality in case of omphalocele was 60% with association of pulmonary hypoplasia and spina bifida in 40% cases compare to reported incidence of 52.6% [3] . Gastroschisis showed better prognosis with lesser chances of associated anomalies.


   Urinary tract anomalies Top


Fetal urinary anomalies was about 0.64/1000 pregnant women which was comparable to reported incidence of 1-7/1000 live births.Male to female ratio of foetal uropathy was 1:1 with reported 2:3 ratio [7]. Oligohydramnios was the common findings especially in bilateral renal agenesis, Bilateral multicystic kidneys, ureteropelvic junction obstruction and posterior urethral valve obstruction(Fig.6)


   Gastrointestinal abnormalities Top


One case of diaphragmatic hernia was reported with incidence of 0.23 /3000 pregnant women.It was associated with polyhydramnios, mediastianl shift and abnormally placed stomach bubble.Duodenal atresia (Fig.7) with typical "double bubble" sign was reported in one case.


   Hydrops foetalis Top


Two cases of hydrops foetalis were reported in present study with incidence of 0.18 /1000 pregnant women. Placentomegaly and polyhydramnios were associated findings in 40% cases.. Cystic hygroma (Fig.8) and cloca syndrome were common associations.


   Results Top


Total 124 fetuses were found to have major congenital malformations. Pregnant women were referred in routine US for fetal well being or with risk factors related to fetal malformations. The average incidence of malformations was 1.14% with maximum no.of malformations 96 (77.41%) during 3rd trimester of pregnancy. Majority of cases were in age group 21-25years (51.6 %) with youngest women of 18 years and oldest 38 years. Most of the fetal malformations were seen in primigravida (45.96 %). During study 52.42% of pregnant women were at risk of malformed fetus in form of discrepancy of height of uterus and period of gestation,47.58% were clinically routine cases. Majority of malformations were detected during 3rd trimester 98 (79.04%) with the range of 13-41 weeks and mean gestational age of 31.16 weeks. Most common anomaly was ventriculomegaly 41 cases (27.33%) followed by anencephaly 39 cases (26.00%). Neural tube defects accounted for more than 50% of the anomalies with common association with spinal deformities. detected. Polyhydramnios 28(71.79%) cases was common association with neural tube defects. Oligohydramnios was associated with 4(66.66%) cases of renal anomalies.Foetal malformations had predilection female fetuses with male to female ratio of 1:1.3 . Spinal abnormalities were common in male fetuses.Overall mortality of malformed fetuses was 90(72.58%) cases,however in anencephaly, diaphragmatic hernia and hydrops foetalis it was 100%.In skeletal dysplasias mortality was 80%.

 
   References Top

1.Rai L,Kumar P,Rao K,Urala MS : Fetal anomalies an analysis. J obstet Gynaecol 1994; 44 (5): 686 - 690.  Back to cited text no. 1    
2.Menon VK,Bharucha KE:Congenital anomalies the obstetric perspective. J Obstet Gynaecol India 1992;44(1) :17-20.  Back to cited text no. 2    
3.Vintzileos AM,Campbell WA,Nochimson DJ,Weinabaum PJ:Antenatal evaluation and management of ultrasonically detected fetal anomalies.Obstet Gynecol 1987;69: 640- 660.  Back to cited text no. 3    
4.Biard PA : Neural tube defect in the Sikhs. Am J Med Genet 1883;16: 49- 56.  Back to cited text no. 4    
5.Pretorius DH,Rumack CM,Manko-johnson ML,Manchester D,Meier P,Bramble J,Clewel W:Specific skeletal dysplasia in utero: Sonographic diagnosis. Radiology 1986;159 :237-242.  Back to cited text no. 5    
6.Sermar M, Benzie RJ, Pitson L, Carr M, Skidmore M : Prenatal diagnosis and management of congenital defect of the anterior abdominal wall. Am J Obstet Gynecol 1987;156:308-312.  Back to cited text no. 6    
7.Cusick EL,Didler F,Droulle P,Scmitt M :Mortality after an antenatal diagnosis of fetal uropathy.J Pediatr Surg 1995;30:463-466.  Back to cited text no. 7    

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Correspondence Address:
S Singh
A-1,Medical College Campus, Government Medical College, Amritsar, Punjab
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-3026.32361

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    Figures

  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8]

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    Abstract
    Introducion
    Material and Methods
    Discussion
    Neural tube defects
    Skeletal Dysplasias
    Anterior abdomin...
    Urinary tract an...
    Gastrointestinal...
    Hydrops foetalis
    Results
    References
    Article Figures

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