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 Table of Contents  
Year : 2021  |  Volume : 14  |  Issue : 3  |  Page : 315-321

Clinical profile, management, and outcome of neonates with congenital structural anomalies admitted in neonatal intensive care unit

Department of Pediatrics, Division of Neonatology, Topiwala National Medical College and BYL Nair Ch Hospital, Mumbai, Maharashtra, India

Date of Submission17-Jun-2021
Date of Acceptance26-Jul-2021
Date of Web Publication30-Sep-2021

Correspondence Address:
Dr. Vinaya Ajaykumar Singh
Department of Pediatrics, 1st Floor, College Building, TNMC, Mumbai - 400 008, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/kleuhsj.kleuhsj_169_21

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BACKGROUND: The aim of this study was to describe the clinical profile, management, and outcome of neonates with congenital structural anomalies and to determine the proportion of neonates having major and minor congenital structural anomalies and requiring surgical intervention. This retrospective cross-sectional study included all neonates admitted in neonatal intensive care unit of a tertiary health-care referral center over a period of 1 year. Neonates with acquired form of surgical conditions (like abscess and necrotising enterocolitis) were excluded from the study. We also studied various maternal risk factors such as gestational diabetes, amniotic fluid volume, and pregnancy registration.
RESULTS: Out of total 1667 admitted neonates during the study period, 157 (9.41%) had congenital structural anomalies, and in only 44 neonates, the anomaly was detected antenatally (28.02%). Majority of anomalies belonged to cardiovascular system (n = 44, 28.02%), followed by equal proportion in genitourinary and central nervous systems (n = 26, 16.56%), and 19 (12.10%) babies had multiple congenital anomalies. The maternal risk factors for structural anomalies included gestational diabetes, oligohydramnios, and number of antenatal visits. Surgical intervention was done in 22 (14.01%) neonates and the rest 135 (85.98%) babies were not operated. The patients who were not operated for their congenital anomalies include those who either died before intervention, or their surgery was deferred because of their poor general condition, babies who were discharged against medical advice or had multiple anomalies where the surgical intervention was not beneficial. Among the study group, 114 (72.61%) neonates were discharged, parents of 6 (3.82%) babies took discharge against medical advice, and 37 (23.56%) newborns succumbed.
CONCLUSIONS: This study has highlighted the pattern of congenital malformations with associated maternal risk factors. Health education, regular antenatal visits, and extremely sensitive prenatal screening method are needed for prevention and early intervention for improving the outcome of high-risk pregnancy.

Keywords: Congenital anomaly, congenital malformation, dysmorphology, neonatal structural defects

How to cite this article:
Singh VA, Malik S, Gandhi P, Wade P. Clinical profile, management, and outcome of neonates with congenital structural anomalies admitted in neonatal intensive care unit. Indian J Health Sci Biomed Res 2021;14:315-21

How to cite this URL:
Singh VA, Malik S, Gandhi P, Wade P. Clinical profile, management, and outcome of neonates with congenital structural anomalies admitted in neonatal intensive care unit. Indian J Health Sci Biomed Res [serial online] 2021 [cited 2022 Sep 25];14:315-21. Available from: https://www.ijournalhs.org/text.asp?2021/14/3/315/327248

  Introduction Top

The neonatal period is a critical time for infants all over the world. It is well documented that more than 4 million newborns die globally every year, with more than 98% of these deaths occurring in developing countries.[1] Prematurity/low birth weight, birth asphyxia, and sepsis are major contributors to these deaths.[2] Congenital malformations affect 2.5% of infants and are responsible for 15% of perinatal mortality globally.[3] It accounts for 8%–15% of perinatal deaths and 13%–16% of neonatal deaths in India.[4],[5],[6] Congenital malformations may be due to genetic, environmental, or a combination of both these factors.[3] These defects can be isolated or manifest as multiple anomalies in a single individual. Single primary anomaly can be classified as a malformation, dysplasia, deformation, or disruption, although most are malformations.[8],[9] A malformation is a primary structural defect arising from a localized error in morphogenesis and resulting in the abnormal formation of a tissue or organ. Dysmorphology is the study of abnormalities of human form and the mechanisms that cause them.

Between 20% and 30% of infant deaths and 30%–50% of deaths after the neonatal period are as a result of congenital abnormalities.[7] There are different types, mechanism, and etiology of malformation.[9] “Dysplasia” is an abnormal organization of cells into tissues. “Deformation” is secondary effects resulting from forces generated extrinsic to the affected tissue or organ leading to an alteration in shape or structure of an organ that has differentiated normally. The recurrence risk for deformation is usually of very low magnitude, unless the cause of the deformation problem is a persisting one, such as a bicornuate uterus.[9] “Disruption” is a structural defect resulting from the destruction of a structure that had formed normally before the insult. “Syndrome” is a pattern of multiple abnormalities that are related by pathophysiology and result from a single, defined etiology. “Sequences” consist of multiple malformations that are caused by a single event that can have many etiologies. “Association” is a nonrandom collection of malformations in which there is an unclear or unknown relationship among the malformations such that they do not fit the criteria for a syndrome or sequence. The spectrum of etiologies for congenital malformation ranges from monogenic, chromosomal, maternal infection, maternal illnesses, environmental agents, maternal intake of medications, intrauterine environment, and assisted reproductive technology.[10],[11],[12] Majority of them are monogenic (7.5% of major anomalies) followed by chromosomal (6% of major anomalies) and maternal illnesses such as diabetes, phenylketonuria, and hyperthermia (3.5% of major anomalies). Although hyperglycemia may be key in the pathogenesis of diabetic embryopathy, other factors contained in diabetic serum may also contribute to the embryopathy.[11],[17] The gastrulation and neurulation stages of development are particularly sensitive to hypoglycemia and result in growth retardation as well as cranial and caudal neural tube defects (NTDs).[11] Environmental agents such as alcohol and tobacco smoking cause various malformations. Ethanol causes fetal alcohol syndrome,[9],[10],[13] and nicotine acts as a vasoconstrictor agent that decreases the perfusion of fetal tissues causing intrauterine growth retardation.[16] Maternal intake of medications such as isotretinoin and phenytoin has been also associated with combination of birth defects.[14],[15],[16],[17] It is observed that in addition to the problems inherent in multiple pregnancies, children conceived by assisted reproductive technologies have an increased risk of NTDs, gastrointestinal anomalies, congenital heart diseases, and chromosomal abnormalities.[18] In future, congenital malformations are going to be a leading cause of morbidity and mortality in centers providing good neonatal care as there is a reduction in mortality due to other causes.[19]

Studies of congenital malformation are useful to establish baseline rates of congenital anomalies, to document changes of pattern of congenital anomalies over time, to identify clues to etiology for their occurrence. These studies are also helpful for health service planning, evaluating antenatal screening in high risk population. Such studies are important to raise the awareness of surgical pediatric intervention.[19],[20] The aim of this study was to provide information on the clinical profile, management, and outcome of congenital malformations admitted in a tertiary care level neonatal intensive care unit (NICU).

  Materials and Methods Top

This retrospective observational study was carried out in the NICU of a tertiary health-care institute. The study was initiated after obtaining permission from the institutional ethics committee. All neonates with a congenital structural anomaly admitted in NICU of a tertiary health-care referral center between January 1, 2016, and December 31, 2016, were studied. Patients with any acquired form of surgical conditions (like abscess and NEC) were excluded from the study. Ethical Clearance was obtained from Institutional Ethical Committee, T. N. Medical College & BYL Nair Ch Hospital Mumbai-08, with Ref no ECARP/ 2017/116 dated 30.11.2017.

Relevant data required for study was extracted from admission records of newborns which were admitted in NICU. The data of newborn included age, gender, age at presentation. Maternal factors such as maternal age, consanguinity, drug exposure, fever and folic acid supplements during first trimester, maternal diabetes, and amniotic fluid volume were also recorded. Other relevant antenatal history of mother, birth history of baby (type and mode of delivery, need of resuscitation, birth weight) along with details of type of structural anomaly, treatment and prognosis (outcome of the management) of anomaly were recorded in our case record form. Case records were analyzed for the presence of structural anomaly.

Congenital anomalies were considered major or minor.[8] Major malformations are structural abnormalities that have medical and cosmetic consequences requiring surgical intervention. Minor malformations are anomalies with no medical or cosmetic significance which may aid in the diagnosis or recognition of a specific syndrome.[8] The anomalies were then categorized as per system involved into central nervous system (CNS), cardiovascular system (CVS), musculoskeletal, gastrointestinal, genitourinary anomalies, and syndromes. Management and outcome of neonates was also recorded.

  Results Top

There were a total of 1667 neonates who were admitted to NICU in the year 2016. Out of these patients, 157 (9.41%) patients were having congenital structural anomalies. One hundred and thirty-five (85.98%) babies were born in our hospital (intramural admissions). In our study, cases were nearly equal in both sexes. Four (2.54%) patients had disorder of sexual differentiation. Term babies were 107 (64.07%), and among these term babies, there were 55 (54.40%) females and 49 (45.79%) males with 3 babies having DSD. There were 50 (31.84%) preterm neonates, and in them, 27 (54%) were males and 22 (44%) were females and one preterm had DSD. Majority of babies, 79 (50.01%), had normal birth weight of 2500 g and above, 62 (39.49%) were low birth weight (1500–2499 g), 12 (7.64%) were very low birth weight (1000–1499 g) and 1 (0.63%) was extremely low birth weight (<1000 g) [distribution shown in [Table 1]].
Table 1: Demographic characteristics of patients with congenital anomalies

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Correlation between various perinatal risk factors and occurrence of congenital anomalies is shown in [Table 2]. Among the cases enrolled, we had majority of the mothers who were registered antenatally, 150 (95.54%). Among these, we had 16 (10.19%) babies with maternal polyhydramnios, 17 (10.82%) with oligohydramnios, and 1 (0.63%) with anhydramnios. We observed that among our 157 babies, there were 19 babies (12.19%) whose mother had gestational diabetes. Out of 157 cases, 87 (55.41%) were delivered by vaginal route and 70 (45.585) were delivered by lower segment cesarean section (LSCS). Majority, 85.98% (n = 135), were cried immediately after birth and did not require any resuscitation; however, 22 (12.73%) babies require some form of resuscitation. Only 44 (28.02%) babies had antenatal detection of anomaly.
Table 2: Perinatal risk factors in patients with congenital anomalies

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Majority of anomalies belonged to CVS (n = 44, 28.02%), followed by genitourinary system and CNS and gastrointestinal system. Anomalies of musculoskeletal and respiratory systems were less. Nineteen (12.10%) babies had multiple congenital anomalies and syndromes. There were five babies with trisomy (3 – trisomy 21, 1 – trisomy 18, and 2 – trisomy 13). We had one baby each with femoral hypoplasia-unusual facies syndrome, thanatophoric dwarfism, and frontonasal dysplasia. The rest ten babies had multiple congenital anomalies. Individual system-wise classification of anomalies and outcome is shown in [Table 3], [Table 4], [Table 5], [Table 6].
Table 3: Cardiovascular, central nervous, and genitourinary system anomalies

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Table 4: Gastrointestinal system/oropharyngeal and musculoskeletal system anomalies

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Table 5: Multiple congenital anomalies and syndromes

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Table 6: Distribution of cases depending on outcome

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Out of 157 cases, 114 (72.61%) were discharged, parents of 6 (3.82%) babies took discharge against medical advice, and 37 (23.56%) died. Twenty-two (14.01%) were operated and 135 (85.98%) babies were not operated. Majority of surgeries were performed on babies with congenital diaphragmatic hernia, tracheoesophageal fistula, and hydrocephalus. Among not operated patients, few died and the rest were discharged and asked for follow-up.

  Discussion Top

There were a total of 1667 neonates who were admitted to NICU in 2016. Out of these patients, 157 patients were having congenital structural anomalies and these formed our study group. On analyzing our study, we found that among the 157 neonates, majority (n = 135) of neonates were born in our institution (intramural) and 22 were extramural admissions. The large number of outborn admissions was due to our hospital being a tertiary care referral center, so our hospital gets many referrals both from within and out of the city. With respect to gender distribution, 48.40% (n = 76) were males, 49.04% (n = 77) were females, and four neonates had disorder of sexual differentiation. The M: F ratio in our study population was 0.9, and this was in contrast to the study by Taksande et al.[19] who documented M: F ratio as 1.63:1 and in a study by Biswal et al.[20] who reported M: F ratio of 2:1. This difference could be due to longer study period and larger study population by the above studies. In our study, four neonates had disorder of sexual differentiation.

Majority of mothers (n = 150) in our study were antenatal registered showing improved antenatal care. However, congenital malformations were antenatal detected in only 28.02% (n = 44) of neonates, thereby emphasizing the fact that detection of congenital malformation needs expert and dedicated radiologists in fetal anatomy. Furthermore, some anomalies of CVS need additional thorough evaluation by fetal echocardiography besides routine sonography. In general, detailed fetal sonography before completion of 20 weeks of gestation is recommended to rule out major congenital anomalies.

Maternal amniotic fluid volume has a significant association with fetal congenital malformation. In our study, 10.82% (n = 17) of mothers had oligohydramnios and 10.19% (n = 16) of mothers had polyhydramnios and we had one case of maternal anhydramnios. Taksande et al.[19] had reported 7.26% of oligohydramnios and 3.91% of polyhydramnios, and these percentages were less than what we detected in our study.

Similarly, maternal gestational diabetes mellitus (GDM) was found in 19 (12.19%), and this was an important risk factor in the mother that can cause congenital anomalies in the neonates. Previous studies by Taksande et al.[19] and Kokate et al.[21] have reported GDM in 2.79% and 6%, respectively. We found a higher proportion of GDM mothers, because our study population had included patients admitted in NICU only. As our population had included only high-risk neonatal population, the relative number of GDM mothers was significantly high.

With respect to gestational age, we found that, in our NICU, congenital malformation was found in majority of term babies (64.07%) as compared to preterm (31.84%) and this difference was not statistically significant. Among the preterm babies, majority were born between 33 weeks and 36 6/7 weeks. Previous studies by Olson et al. and Biswal et al. have demonstrated preponderance in preterm population.[18],[20] As our study population was from high-risk population, and being tertiary care institute, we found that 45.58% of babies were born by cesarean section. Although LSCS was performed for both fetal and obstetric indications, they were rarely performed due to the presence of congenital anomaly alone. Twenty-two babies required some sort of resuscitation at birth, however, as need of resuscitation depends on multiple factors, congenital malformation alone cannot be attributed as the only risk factor for need for resuscitation at birth.

As babies with term gestation was a major part of the study, we had 50% of babies with birth weight more than 2500 g and the rest were <2500 g.

System-wise distribution of congenital malformation reveals cardiovascular malformation as the most common (n = 44, 28.02%) system involved. The genitourinary and CNS malformations were found in 26 babies (16.56%). Babies with multiple congenital anomalies also contributed in significant proportion of 12.01% of total population (n = 19). Previous studies have shown a varied presentation of system-wise distribution of congenital malformation. Taksande et al.[19] had shown the highest proportion of CVS malformations and genitourinary malformations at lowest. Kokate et al.[21] had found the highest proportion of CNS malformation (44%) and the lowest proportion of gastrointestinal tract (GIT) malformations. Whereas, the study by Biswal et al.[20] has shown that the most common system involved in their study population was musculoskeletal (31.06%), followed by GIT (21.3%), CNS (17.2%), and genitourinary system (6.5%). Obu et al.[22] found majority of CNS malformations.

Among CVS malformation, acyanotic heart diseases were common (n = 44), and in them, acyanotic ventricular septal defect heart disease was most common. We had nine full-term neonates with patent ductus arteriosus. Among genitourinary malformation, hydronephrosis was most common. Isolated cleft palate was found in three babies, and four babies had cleft lip with cleft palate. Congenital talipes equinovarus was the most common malformation among musculoskeletal system. Respiratory system was composed of the highest number of neonates born with congenital diaphragmatic hernia. In a previous study done by Dr. Lakshmi Vinodh et al.,[23] majority of anomalies were from musculoskeletal system (24%), followed by CNS (21.4%) and genitourinary system (16.4%).

Mortality in our study was 23.56%. 37 neonates died during the course of treatment. 114 (72.61%) have successfully discharged while parents of 6 babies (3.82%) taken discharge against medical advice. Majority of mortality was among babies with multiple congenital anomalies. Although surgery was done on 22 (14.01%) neonates, in majority of neonates, surgery was not done (85.98%). The group of patients without surgical intervention included those who died before intervention, whose surgery was deferred because of their poor general condition and health issues, babies who were managed and discharged, and babies who were discharged against medical advice. We found that congenital anomalies were associated with low birth weight, preterm labor, and liquor abnormalities. It is important to increase awareness about antenatal control of diabetes and periconceptional folic acid supplementation, as it is proven that NTDs are associated with lack of perinatal folic acid supplementation in mothers.

The limitations of this study are as follows:

  1. The high incidence detected of babies with structural congenital anomalies in our study is perhaps due to our hospital being a tertiary care center and so high-risk babies and mothers are admitted. This incidence does not reflect the spectrum of congenital malformation found in general population. However, it points toward the need to maintain congenital malformation registry
  2. In our institute some of the newborn patients are directly admitted to other departments like pediatric surgery, neurosurgery, urosurgery etc depending on their nature of illness. These babies are not admitted in NICU. We have included patients admitted in NICU only, hence those babies who have congenital anomalies and are admitted in other departments are missed as they are not included in our study
  3. We have also not included babies who are in postnatal ward, intrauterine deaths, and stillbirths; if we would have included these babies, the proportion of congenital malformation would have been higher.

  Conclusions Top

This study has highlighted the pattern of congenital malformations with associated maternal and fetal risk factors. As we belong to a developing country health education, regular antenatal visits by health workers and a highly sensitive prenatal screening method are much needed for prevention and early intervention for better future of high-risk pregnancy.

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Conflicts of interest

There are no conflicts of interest.

  References Top

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[PUBMED]  [Full text]  
Biswal SR, Mishra S, Sambedana P. Congenital anomalies in neonates and associated risk factors in a tertiary care hospital: A single center study from India. Indian J Appl Res 2017;7:174-6.  Back to cited text no. 20
Kokate P, Bang R. Study of congenital malformation in tertiary care centre, Mumbai, Maharashtra, India. Int J Reprod Contracept Obstet Gynaecol 2016;6:89-93.  Back to cited text no. 21
Obu HA, Chinawa JM, Uleanya ND, Adimora GN, Obi IE. Congenital malformations among newborns admitted in the neonatal unit of a tertiary hospital an Enngu, South – East Nigeria – A retrospective study. BMC Res Notes 2012;5:177.  Back to cited text no. 22
Vinodh Lakshmi S, Deepthy B. Pattern of congenital anomalies in a tertiary care centre. J Med Sci Clin Res 2017;05:15826-31.  Back to cited text no. 23


  [Table 1], [Table 2], [Table 3], [Table 4], [Table 5], [Table 6]


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