Trends in Referral Pattern of Antenatally Diagnosed Surgical Abnormalities in a Tertiary Care Center in North India.

AIM: Pregnant women with antenatally diagnosed surgical abnormalities of the fetus are often referred for pediatric surgical consultation for likely outcome and prognosis. In this study, we analyzed the gestational age at referral to see the benefits of the same in decision-making and also looked for any change in trends of referral pattern over a period with the increasing availability of ultrasonography (USG).
MATERIALS AND METHODS: Records of pregnant women referred for antenatal counselling over an eight year period were analyzed. This was an observational study conducted in the Pediatric surgery outpatient department of a tertiary care centre from 2008-2015. All pregnant women referred for antenatal counseling were included, with the diagnosis of fetal abnormalities being based on USG. Abnormalities were classified by system involved. Comparison of data before and after the year 2012 was done to look for change in trends. Patients with poor prognostic outcome were further analyzed.
RESULTS: A total of 1211 women were analyzed, with 490 (40.7%) presenting between 2008 and 2011 and 719 (59.3%) between 2012 and 2015. Overall, in those with likely poor prognostic outcome (n = 482), 189 (39.2%) patients presented at <20 weeks gestation, 106 (22%) between 21 and 24 weeks gestation, and 187 (38.8%) after 24 weeks of gestation. Genitourinary abnormalities (n = 220; 46%) accounted for the most common poor prognostic outcome group in all gestational ages.
CONCLUSION: Nearly two-thirds (61%) of the patients with poor outcome were referred after 20 weeks of gestation, i.e., beyond the permissible time for termination. Fetal sonography expertise between 16 and 20 weeks should be improved as a priority by the government in peripheral centers.

INTRODUCTION

There is a high incidence of patients with congenital anomalies in India compared to developed countries. Failure to detect serious anomalies in early fetal life often due to the shortage of skilled fetal sonologists in many peripheral centers may be contributory. The importance of this burden is that congenital anomalies account for 10%–15% of perinatal deaths and 13%–16% of neonatal deaths in India.[12]

We are involved in antenatal counseling at our tertiary care center for several years, and the number of referrals to our department has steadily increased.[3] We wanted to analyze if gestational age at diagnosis of fetal anomalies and accuracy of ultrasounds at peripheral centers have improved over a period. We also aimed to see how many patients with poor prognostic outcome fetal anomalies came to us beyond the legal limit for termination, i.e., 20 weeks of gestation. Those presenting between 20 and 24 weeks of gestation were specifically looked at as the detection of anomalies is known to be higher in this period but falls out of the allowed period of termination compared to some Western countries.

MATERIALS AND METHODS

Study design

This was an observational study with retrospective analysis of data collected between 2008 and 2015.

Setting

The study was conducted in the pediatric surgery outpatient department of a tertiary care center.

Subjects

Pregnant women with fetal anomalies referred for counseling and prognostication were included.

Inclusion criteria

Expectant mothers referred from the Obstetrics department of the Institute with fetal anomalies noted on ultrasonography (USG) irrespective of gestational age were included. If the patient was referred from a peripheral centre, the findings were confirmed by another USG at our centre by an experienced team of sonologists. The results noted on fetal magnetic resonance imaging (MRI) performed at either our centre or elsewhere was also accepted.

Exclusion criteria

Patients without confirmatory ultrasound from our center or MRI and those with incomplete antenatal records were excluded.

The USG at our center was performed with a low-frequency (2–5 MHz) convex probe. A detailed assessment of all systems was done. The USG is repeated in case of doubtful findings such as nonvisualized or distended stomach/urinary bladder. Patients underwent other investigations such as fetal echocardiography, viral markers, and triple test and genetic counseling as per sonography findings.

Patients consented to data collection. Institute Ethics Committee gave ethical approval for the study. Data were collected prospectively in a specific pro forma and included address and phone number, gestational age at presentation in our outpatients, details of all previous scans, and advice given by us regarding immediate and long-term prognosis. In anomalies requiring immediate neonatal care after delivery, mothers were advised to get the delivery done at our Institute. They were counseled to have an autopsy done in case of fetal termination advice. Other patients were encouraged to follow-up on the same outpatient day after delivery to confirm the prenatal diagnosis and manage the neonate appropriately.

Data were compared between 2008–2011 and 2012–2015 to look for any change in trends and subdivision into favorable and poor prognostic outcome. The labeling of a finding as favorable would depend on various factors such as gestational age at diagnosis and especially whether it was an isolated finding and included choroid plexus cyst (unilateral or bilateral), unilateral renal agenesis with normal contralateral kidney, unilateral or bilateral mild-to-moderate hydronephrosis with normal amniotic fluid, mild hydrocephalus with ventricular diameter less than 10 mm, isolated dextrocardia, cleft lip, cleft palate, abdominal cysts, isolated unilateral or small bilateral pleural effusion/without fetal hydrops or polyhydramnios up to 24 weeks, isolated unilateral cystic adenomatous malformation, intralobar sequestration, and small omphalocele.

The following were considered to have poor prognostic outcome: anencephaly; gross hydrocephalus; neural tube defects; bilateral hydroureteronephrosis with distended bladder and oligohydramnios; bilateral multicystic kidney disease with oligohydramnios; congenital cystic adenomatoid malformation of lung with associated congenital pulmonary airway malformation volume ratio (CVR) >1.4; congenital diaphragmatic hernia (CDH) with liver in the thorax, lung to head ratio (LHR) <1.4 and cardiac anomalies; severe structural cardiac anomalies; hydrops fetalis and those with multiple anomalies.

Specific analysis of poor prognostic outcome was performed based on the period of gestation at the time of referral and the system involved.

Statistical analysis

The statistical software SPSS version 15.0, (IBM Corporation, Armonk, New York, USA) was used for the analysis of the data and Microsoft Word and Excel were used to generate graphs, tables, etc. Descriptive and inferential statistical analysis was carried out. Results on continuous measurements are presented as mean and standard deviation (min–max), and results on categorical measurements are presented in number (%). Student's t-test (two-tailed, independent) was used to find the significance of study parameters on a continuous scale between two groups (intergroup analysis) on metric parameters. Chi-square/Fisher's exact test was used to find the significance of study parameters on a categorical scale between two or more groups. The nonparametric setting was used for qualitative data analysis. A P < 0.05 was considered statistically significant.

RESULTS

A total of 1211 records which fulfilled the inclusion criteria were analyzed. 492 (40.7%) patients presented between 2008 and 2011, whereas 718 (59.3%) patients presented between 2012 and 2015. A total of 482 (40%) patients were considered to have a poor prognostic outcome. While 38% of the patients presented before 20 weeks, 40% presented after 24 weeks of gestation. Another significant proportion of 22% patients presented between 20 and 24 weeks of pregnancy.

The overall number of patients referred with poor prognostic outcome with time showed a significant increase (P = 0.037) [Figure 1]. There was also a significant increase in the number of patients with poor prognosis presenting before 20 weeks of gestation after 2011 as compared to before 2012 (P = 0.042) [Figure 2]. Genitourinary anomalies accounted for the most number with poor prognosis (220; 46%) followed by neurological anomalies (170; 35%) [Table 1]. This observation was seen at all gestational ages.

Figure 1

Referral pattern of patients with fetal anomalies for counseling over an 8-year period (2008–2015)

Figure 2

Referral pattern of fetal anomalies with poor prognostic outcome

Table 1

Comparison of system-wise presentation versus gestational age in poor prognostic outcome group

DISCUSSION

Majority of the structural anomalies are expected to be detected before 24 weeks of gestation on ultrasound and nowadays in experienced hands as early as 11–14 weeks of pregnancy.[4] No ultrasound can be termed 100% accurate especially concerning fetal sonography. The reliability of USG may be considered better at 18–24 weeks as compared to earlier gestational periods, except in interpretation of some transient abnormalities such as increased nuchal translucency and echogenic bowel which may disappear after 16 weeks. It is our observation that the skill of radiologists in this specialized field of USG in our country is variable and the anomaly often goes unnoticed in the initial scans. Given this, a repeat level II ultrasound is performed at our center (or MRI in a minimal number of patients) for confirmation in all referred cases.

Although routine anomaly scans should be done between 16 and 20 weeks of gestation, often the mother has been told to get this done between 20 and 24 weeks gestation after an initial scan at 8 weeks gestation confirmed the pregnancy. Further, we have noted that in some cases, only a level I scan has been advised at the crucial 18–20 weeks gestation period. These factors accounted for some of the late fetal anomaly scans and delayed referrals.

On the positive side, on comparing our data before and after 2012, we noted a 20% increase in patients referred with antenatal ultrasounds and also a 25% increase in the detection of fetuses with poor prognostic outcome. Increasing awareness and prenatal supervision of pregnant women, as well as the rise in the expertise of radiologists in peripheral centers, are likely causes of this change.

Antenatal patients are referred to pediatric surgeons mainly for prognostication of disease. A combination of anomalies or findings, such as gestational age at diagnosis and progression or regression of abnormality, affects the prognosis of a disease detected in utero. In CDH, if there is no liver herniation and the LHR is more than 1.4, delivery at term in a tertiary care hospital with neonatal intensive care facilities has a good prognosis. However, the different features, namely pulmonary hypoplasia and associated anomalies, especially cardiac, worsen the prognosis. Similarly, unilateral or bilateral hydronephrosis or hydroureteronephrosis will be expected to have good prognosis unless associated with gross dilatation in a fetus with only a single kidney or bilateral gross dilatation with suspicion of posterior urethral valve detected in the first or second trimester and associated oligohydramnios. In our study, neurological and genitourinary structural anomalies accounted for the majority of anomalies with poor prognostic outcome, irrespective of gestational age.

The Medical Termination of Pregnancy Act of 1971 of India allows termination of pregnancy with minimal risk to the mother for fetuses with anomalies and less than 20 weeks gestational age. In our study, among the fetuses diagnosed with anomalies with a poor prognostic outcome, only 39% mothers presented before 20 weeks of gestation and could be advised termination of pregnancy. The remaining 61% had to continue with their pregnancy. In the United Kingdom, under exceptional circumstances, termination of pregnancy is allowed till 24 weeks of gestation. In 1973, the Supreme Court of the United States of America (USA) in a landmark decision in Roe v. Wade case stated that termination of pregnancy could be carried out before the period of viability.[5] At the time, medical technology suggested that viability was possible at 24 weeks. Later, with the advancements in medical technology, more preterm babies could be salvaged and determination of “period of viable” became complicated. The youngest child to survive a premature birth in the United States was a girl at Baptist Children's Hospital in Miami, at 21 weeks and 6 days gestation.[6] At present, in the USA, the timing for termination of pregnancy in the different states is divided. In India, the youngest child to survive was a girl born at 23 weeks gestation in Delhi in 2013.[7]

While the period of viability is becoming lesser and lesser, we should consider the quality of life of the patient in future. Furthermore, it is a fact that India not only accounts for one-fifth of global live births but also has a high number of neonatal deaths.[89] In 2013 alone, 0.75 million neonates died in India, the highest for any country in the world.[9] As per the World Health Organization, the neonatal mortality rate in India in 2015 was 28 per 1000 live births. Four major causes of neonatal deaths as per the data from the Million Death Study from India were preterm birth complications (44%), infections (20%), perinatal asphyxia (18%), and congenital malformations (8%).[9] In comparison to developed countries, where the leading cause of infant mortality is congenital malformations, in India, low birth weight, prematurity, and infections continue to be the leading cause.[10] As a consequence, congenital disabilities continue to receive less attention.[11] A recent study by Saini et al. in a district hospital in India reported preterm morbidity and mortality of 100% and 85%, respectively, for neonates born before 28 weeks of gestation.[12] Therefore, even if a fetus with an anomaly requiring surgical intervention is delivered early, chances of survival are poor. Gandhi et al. also reported a statistically significant association between congenital anomalies and low birth weight and prematurity.[13] Sarkar et al. in their study demonstrated a significant correlation between congenital defects and the need for a cesarean section as a mode of delivery.[14] This has further added to the morbidity of the mother.

CONCLUSION

The present study shows a significant number of fetuses with poor prognostic congenital anomalies were diagnosed in the gray zone of 21–24 weeks of gestation. With the advancements in medical technology, it may be possible to offer safe termination of pregnancy in selected cases between 21 and 24 weeks gestation, thereby reducing the psychological effect on the mother during the remaining pregnancy, early neonatal mortality, and lifelong burden on these families. A mandatory level 2 ultrasound between 18 and 20 weeks of gestation irrespective of the timing and findings of any previous ultrasound would help in detecting severe anomalies early.

The government should seriously consider specialized training in fetal sonography and proper equipment for radiologists in peripheral centers as part of their health policy.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.