Perinatoloji Dergisi 2005; 1(1): 25-30
Online published date : 1 March 2005

Prenatal diagnoses with amniocentesis and cordocentesis: evaluation of 181 cases

 

Melih Atahan Güven*, Serdar Ceylaner**

 
* Kahramanmaraş Sütçüimam Üniversitesi Tıp Fakültesi, Kadın Hastalıkları ve Doğum Anabilim Dalı, Kahramanmaraş, **Zekai Tahir Burak Kadın Sağlığı Eğitim ve Araştırma Hastanesi, Genetik Merkezi, Ankara
 

Abstract

 

Aim: The aim of this study was to evaluate the results of invasive prenatal diagnostic procedures, amniocentesis and cordocentesis, performed in our clinic during 2002 and 2004.

Methods: Prenatal invasive diagnostic procedures were performed during 2002 and 2004 period of time due to high risk in triple screening test (? 1/270), advanced maternal age (? 35), anomaly detection during obstetric ultrasonography, and other indications were evaluated. Retrospectively, 150 cases (16-21 weeks), 31 cases (19-21 weeks) that were evaluated by amniocentesis and cordocentesis, respectively.

Results: Tissue cultures were successful in 150 of 153 cases (%98) evaluated by amniocentesis and %100 successful in all of 31 cordocentesis. Chromosomal abnormality rate was 3.8% (7/181) in all cases with successful cultures. The largest group of indications was high risk in triple screening test (78/ 181) in which the percentage of chromosomal abnormalities was 3.8% (3/78). There was no chromosomal abnormality detected in 49 (%27) cases with the indication of only advanced maternal age. In the evaluation of 23 (%12) cases with ultrasound abnormalities, 3 cases (13%) were detected with chromosomal abnormalities. Pregnant women presented with other indications (%18) in whom only one of 31 cases (3.2%) was chromosomal anomaly.

Conclusion: The rate of producing a successful tissue culture was %98 in our first retrospective study on fetal karyotype. There was no fetal loss in respect to the invasive procedure. Prenatal diagnosis must be performed in all cases with ultrasound abnormalities. Cases with low risk in triple screening test should be evaluated

 
Keywords:
Amniocentesis, Cordocentesis, Fetal karyotype, Chromosomal abnormalities.
 

Introduction

 

Congenital defects are the second causes of perinatal morbidity and mortality all over the world following the leading cause, which is premature delivery. They usually occur at a mean rate of 3-5%. 1-3 General tendency is to diagnose early, and treat if possible, or terminate those defects in an ethical/legal way, which may occur depending on several etiological factors and differ based on age, family characteristic, race and environment. 1,2 Failure to meet those criteria may lead to various social, economical and medicolegal problems. 1 It has been reported that congenital defects can only be diagnosed during the last period of gestation or during the delivery in the areas and hospitals lacking basic facilities. 4

The aim of this study was to evaluate the distribution of the major fetal abnormalities with respect to systems and some related clinical properties during a five-years period and analyse the delivery method, fetal sex and mortality in those anomalies.

 

Method

 

A total number of 55493 deliveries and 56030 neonates were examined retrospectively between 01.01.2000 and 31.12.2004 at the Gynecology and Obstetrics Clinic of the Göztepe Education and Research Hospital . All neonates at gestational week 22 or over 500 grams were included in the study based on their delivery records. The major congenital anomalies were separately evaluated for the following; number by years, distribution by systems, delivery method, fetal sex and perinatal prognosis. Statistical analysis was performed through qui-square test, and a p value <0.05 was considered significant.

 

Results

 

We have found that the number of single, twin, triplet, and quadruplet births was 54914, 559, 20 and 2, respectively, out of all deliveries registered in our clinic for a five-years period. Three of multiple gestations had major fetal anomaly while both babies had the same anomaly only in one case. In our series with a total number of 247 cases (0.44%) with anomaly, the distribution of major congenital anomalies by years is shown in Table 1. The anomaly incidence ranging from 0.4 to 0.5 % in the first four years decreased to the border of 0.26 % in 2004 (p <0.05).

An analysis on the distribution of congenital anomalies by system and region showed that the most frequent anomalies were of the central nervous system (Table 2), which were followed by non-immune hydrops fetalis and multiple anomalies.

The prognosis of congenital anomalies is shown in Table 3. Fiftynine (74.68%) of the anomaly cases were lost during the antenatal period while 20 of them (25.32%) died during the early postnatal period. The mortality rate was found 31.99% in anomaly cases.

 

Table 1. Congenital anomalies and their distribution by years.

Year

Single (n)

Multiple (n)

Baby (n)

Anomaly (n)(%)

2000

2001

2002

2003

2004

 

11545

11424

10427

10616

10090

 

131

112

107

91

140

 

11814

11542

10643

11802

10235

 

55 (0.46)

58 (0.50)

42 (0.39)

62 (0.53)

30 (0.26)

 

Total

 

54912

 

581

 

56030

 

247 (0.44)

 

 

Table 2. The distribution of congenital anomalies by systems.

 

n

%

Central nervous system

Hydrops fetalis

Multiple anomaly

Craniofacial defects

Gastrointestinal system

Skeletal system

Urinary system

Cardiovascular system

Down syndrome

Genital system

Other (tumors, abdominal wall defects, etc.)

135

40

14

10

10

7

4

3

4

2

18

54.66

16.19

5.67

4.05

4.05

2.83

1.62

1.21

1.62

0.80

7.30

 

Table 3. The fetal prognosis in congenital anomalies

 

 

Year

 

Anomaly

n

Antenatal

Mortality

Early postnatal

mortality

Total

mortality

n

%

n

%

n

%

2000

2001

2002

2003

2004

 

55

58

42

62

30

 

18

15

12

9

5

 

(32.73)

(25.86)

(28.57)

(14.52)

(16.67)

 

1

7

3

8

1

 

(1.81)

(12.07)

(7.14)

(12.90)

(3.33)

 

19

22

15

17

6

 

(34.55)

(37.93)

(35.71)

(27.42)

(20.00)

 

Total

247

59

(23.89)

20

(8.10)

79

(31.99)

 

 

Hundred and sixtythree out of 247 cases (65.99%) with congenital anomaly were born by vaginal delivery while 84 (34.01%) by abdominal delivery. The indication for abdominal or vaginal delivery was based on obstetric criteria.

The distribution of congenital anomalies by gender showed a statistically insignificant rise in girls (p>0.05) (Table 4).

 
Discussion
 

It has been reported that the mean prevalence of congenital anomalies is 3 to 5% in developed countries. 1,5,6 The rates reported before 1990s are usually lower in our counrty. 3,7-9 The rates in the referenced clinics are similar to the samples in the west. 4

In cases where conditions for prenatal diagnosis are difficult, an incidence rate of congenital anomaly up to 14% has been reported in series with a high risk of anomaly. 6 An anomaly incidence between 6 and 16% was reported in the delivery of dead fetus. 8,10-12 The lower anomaly rates in our series may result from determination of anomaly rate only, but not prevalence; restricted possibilities in the prenatal diagnosis and insufficiencies in the registering system were also responsible for such lower rate.

We found that anomalies didn't significantly differ in the five-years period for which we examined, and they changed in a range from 0.50% to 0.26 % in the average. We believe that prospestive studies are required to understand this tendency to decrease observed in recent years. We found that mortality was mostly seen during the antenatal period. Similar results were reported in our country. 3,4

As seen in our series, the most frequent type of anomaly in our country is of the central nervous system. 3,4,13 Aquiar et al. reported a neural tube defect rate of 0.47%. 14 Since such type of defects do not go overlooked and they receive particular attention, they are recorded almost hundred percent, and superior to other defects. However, in series with prenatal diagnosis, multiple anomalies and anomalies of the cardiovascular system (16%) are preceeded by the anomalies of the urinary system (20%).

As seen in our series, the cardiac anomalies which are rare in our country 3,4,8 (3-10/ 10000), are recognized easier in the countries where possibilities for prenatal and postnatal diagnosis are better (60/10000), and they rate in the foreground among congenital anomalies. 6,15 It has been reported that the diagnosis is made rather through direct observation in series lacking a broad use of ultrasonography, and thus types of anomaly would be heavily morphologic in general. 4 However, it has been proposed that it is not possible to detect anomalies particularly related with internal organs in centers where the possibilities for prenatal diagnosis are restricted, as also seen with our series. 3,4,8

Higher incidence of congenital anomalies in girls is parallel to the results of some previous studies. 3,4,7 Also, the rate of delivery methods is similar to the ones reported in previous studies. 4,16

Compared to the developed countries, being unable to get a post-mortem examination even in the researh centers 17,18 leads to insufficiency in etiological factors and final diagnosis. Most of the cases in our series lack the findings of a post-mortem examination.

In conclusion, the rate of congenital anomaly was 0.44% for the deliveries in our clinic during a five-years period. Unfortunately some detectable malformations went unnoticed due to failure of early diagnosis particularly during the prenatal period and insufficient postnatal analysis. Lack of guidelines defining the weeks and by whom the prenatal diagnosis can be made as well as lack of a standard form for registering the anomalies and also influence of personal and organizational structures on the existing registers all over the country held us to obtain to the exact figures. Necessary steps should be taken nationwise and organizationwise in order to eliminate such insufficiencies.

 

Table 4. The distribution of congenital anomalies by gender.

 

Female

Male

Total

Alive

Dead

89

40

 

82

36

 

171

76

 

Total

129 (%52.23)

118 (%47.67)

247

 

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