Perinatoloji Dergisi 2005; 1(1): 31-34
Online published date : 1 March 2005

The retrospective analysis of major fetal abnormality at deliveries

 

Fikret Gökhan Göynümer, Kumral Kepkep, Gamze Yetim, Yıldız Tuncay, Arzu Koç, Ercan Tutal

 
Göztepe Eğitim ve Araştırma Hastanesi, Kadın Hastalıkları ve Doğum Kliniği, İstanbul
 

Abstract

 

Objective: The aim of this study is to evaluate the distribution of the major fetal abnormalities with respect to systems and some related clinical properties during five years period.

Methods: A total number of 55493 deliveries and 56030 neonates were examined retrospectively between 2000-2004. Major fetal defects observed at delivery room were recorded and classified for the distribution of year, system, delivery route, fetal sex, and of prognosis.

Results: Single or multiple fetal abnormalities were identified in 247 cases. The incidence of major abnormality was 0.44 % at the time of delivery. The most common abnormality was that of the central nervous system (54.66%). Two third of these cases had delivered vaginally, one third of them had cesarean section. We revealed that 32% of major anomaly cases dead at the antenatal and very early postnatal period.

Conclusions: The prevalence of major fetal abnormalities was 0.44% and central nervous system abnormalities were the most frequent abnormalities at the deliveries in our clinic. We found that 32% of the cases with major abnormality dead at the antenatal or very early postnatal period. Most deliveries of the babies with major abnormality were done by vaginal route. We suppose that in order to determine realistic major abnormality rates, routine ultrasonographic scanning should be done and nationally oriented detailed records should be documented.

 
Keywords:
First trimester Down syndrome screening, Fetal gender.
 

Introduction

 

General approach to these defects which may show diversities in age, family features, race and differences due to environment and may occur due to various etiologic factors is to diagnose early, treat if possible or to terminate in etical legal limits.1,2 When these criteria are not followed, various social, economic and medicolegal problems may be seen.1 It is reported that in regions and hospitals where infractructure is inadequate, the diagnosis can be made only at the end of pregnancy or during the delivery. 4

Our aim in this study is to investigate major congenital anomalies in regard to the distribution to the years and systems, delivery status of these anomalies, fetal gender and mortality in 5 years time.

 

Method

 

55493 delivery and 56030 newborn were analysed retrospectively in Obstetric and Gynecology Clinic of Göztepe Training Hospital between 01.01.2000 – 31.12.2004. All newborns who have completed the 22 week and have a weight of 500g were included to the evaluation. The number of congenital anomalies per year, distribution per system, type of delivery, fetal gender and perinatal prognosis were evaluated separetely. In statistical analysis Qui-square test was used and p<0.05 was considered to be significant.

 

Results

 

In our clinic, among registered deliveries during this five years time 54912 were single, 559 were twin, while 20 of them were triplet 2 of them were quadriplet. There was major fetal anomaly in three of the multiple pregnancies, there was only one similar anomaly in two babies. Total of 247 (0.44%) anomaly case per year is shown in Table 1. Frequency of anomaly was 0.04 – 0.05 during the first 4 years but it decreased to 0.02.6 level in 2004 (p<0.05).

When the congenital anomalies were examined for the distribution to regions and systems, the most frequently seen was central nerwous system anomalies (Table 2) followed by non-immune hydropes fetalis and multiple anomalies.

The prognosis of congenital anomalies is shown in Table 3. 59 (74.68%) of the anomaly cases were lost in antenatal period, 20 (25.32%) of them in early postnatal period. The mortality rate in anomaly cases were 31.99%.

The deliveries of 163 out of 247 (65.99%) congenital anomaly cases were vaginal route, 84 (34.01 %) were abdominal. The indication of the deliveres of vaginal or abdominal route were according to obstetric criteria.

In gender distribution of the congenital anomalies was higher in females which showed no statistical significance (p>0.05) (Table 4).

 
Discussion
 

It is reported that the prevelance of congenital anomalies in developed countries is approximitely 3-5% 1,5,6 . The rates that are reported before 1990s in our country are generally lower. 3,7-9 The rates in referred clinics are similar to Western samples. 4

When the prenatal diagnosis possibilities are forced, in high risk series the incidence of congenital anomalies is reported to be 14%. 6 6-16% of anomaly frequency is reported in still births 8,10-12 In our series the reason for lower anomaly rate might be due to the report of the anomaly rate seen only, not the prevalance. Furthermore the prenatal diagnosis possibilities are limited and the registration system is inadequate so those may lead to lower rates, also.

We have determined that there are no big differences in distribution of the anomalies per years in five years series and it is approximately 0.50% - 0.26 % we have thought that to find out the reasons for declining trend in recent years, we need prospective trials. We have established that in our series mortality is seen more in the antenatal period. Similar findings have been reported from our country 3,4 .

As in our series, in our country generally the most frequently seen anomaly type is central nervous system anomalies. 3,4,13

Aquiar et al. 14 have reported that neural tube defect rate is 4.7/1000. Those type of defects can not be missed during deliveries and registered without failing so they have priority among other defects. However in series where prenatal diagnosis is possible, urinary system anomalies (20%) are leading followed by multiple anomalies and cardiovascular system anomalies (16%).

Cardiac anomalies 3,4,8 which are rarely seen in our contry (3-10/10000) can be diagnosed easily in countries where prenatal and postnatal diagnosis is better (60/10000) and they are forefront among the other congenital anomalies. 6,15

In series where ultrasonographic diagnosis is not available, diagnosis can be made according to direct observations and therefore the anomaly types are frequently depend on to the morphology. 4 However in some centers as in our series where prenatal diagnosis is limited the diagnosis of the anomalies especially the anomalies related to internal organs can not be detected 3,4,8 and congenital anomalies are seen more fraquently in girls and it is found to be consistent with the other trials that reported previously . 3,4,7 The type of deliveries are consistent with the rates which are reported earlier. 4,16

When we compare the procedure in developed countries after the perinatal deaths, autopsi permission can not be obtained even in research centers in our country 17,18 therefore this leads to the incomplete etiologic factors and the last diagnosis. In our series most of the cases do not have autopsi findings either.

As a conclusion, the rate of congenital anomalies in our clinic in five years time is 4.4/1000. Early diagnosis in prenatal period was not available and the postnatal evaluation was inadequate so those entities lead to disregard of the malformations.

In our contry we do not have a policy for prenatal diagnosis and a standart, national form which will record the anomalies and our existing record system can be effected personally and intstitutionally so the real results can not be reached. It is needed that these deficits should be corrected and national and institutional steps should be taken.

Table1. Congenital anomalies and the distribution per year

year

single(n)

multiple(n)

baby(n)

Anomaly(n)%

2000

11545

131

11814

55 (0.46)

2001

11424

112

11542

58 (0.50)

2002

10427

107

10643

42 (0.39)

2003

10616

91

11802

62 (0.53)

2004

10090

140

10235

30 (0.26)

Total

54912

581

56030

247 (0.44)

 

Table 2. Congenital anomalies and the distribution per system

 

n

%

Central nervous system

135

54.66

Hydrops fetalis

40

16.19

Multiple anomaly

14

5.67

Craniofacial defects

10

4.05

Gastrointestinal tract

10

4.05

Skeletal system

7

2.83

Urinary system

4

1.62

Cardiovascular system

3

1.21

Down syndrome

4

1.62

Genital system

2

 

Other (tumors, abdominal wall defects)

18

7.30

 

Table 3. Fetal prognosis in congenital anomalies

year

Anomaly

Antenatal mortality

Early postnatal mortality

Total mortality

 

 

(n)

(n)

(%)

(n)

(%)

(n)

(%)

2000

55

18

(32.73)

1

(1.81)

19

(34.55)

2001

58

15

(25.86)

7

(12.07)

22

(37.93)

2002

42

12

(28.57)

3

(7.14)

15

(35.71)

2003

62

9

(14.52)

8

(12.90)

17

(27.42)

2004

30

5

(16.67)

1

(3.33)

6

(20.00)

toplam

247

59

(23.89)

20

(8.10)

79

(31.99)

 

Table 4. The distribution of congenital anomalies according to gender

 

Female

Male

Total

Alive

89

82

171

Dead

40

36

76

Total

129 (%52.23)

118 (%47.67)

247

 

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