الفهرس 
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Abstract
This study was carried out at NICU, Assiut University Children’s Hospital from March 2019 till March 2020. All cases admitted to (NICU) who fulfilled the inclusion criteria over one year were included in this study. Total numbers of congenital malformation were (110). The aim of the study was to identify pattern and outcome of critical congenital anomalies.
Our study included cases that need resuscitation and stabilization and congenital anomalies that need admission in NICU eg: imperforated anus, meningocele, heart disease, tracheoesophageal fistula, urinary problems, diaphragmatic hernia, intestinal obstruction, duodenal obstruction and neural tube defect. We exclude all vitally stable cases that didn’t need NICU admission.
Our study included 1500 cases, 110 of them had critical congenital anomalies represented (7.3%).
The main results of the study:
The studied cases as shown in table (3) included 1390 without congenital anomalies versus 110 cases with congenital anomalies. The demographic data in cases with and without C.A. showing: the mean age of mothers of babies with C.A. was (27.97 ± 3.77) years, while the mean age of mothers of babies without C.A was (28.16 ± 5.33) years. Regarding the cases with congenital anomalies there were 83 cases (75.5%) preterm, and 27 cases (24.5%) full term cases, 61 cases (55.6%) were males, and 49 cases (44.4%) were females. The cases without congenital anomalies there were 1034 cases (74.4%) preterm and 356 cases (23.7%) full term. The mean birth weight of babies without congenital anomalies was (2.36 ± 2.17) kg, and the mean birth weight of babies with congenital anomalies was (2.19 ± 1.66) kg. Regarding maternal Parity, among babies with congenital anomalies there were more than half of cases (55.6%) belong to mothers with 3-4 parity. On the other hand most of babies without congenital anomalies (91.4%) belong to mothers with 1-2 parity.
The type of gestation in cases with congenital anomalies there were 85 cases (77.8%) singleton, and 25 cases (22.7%) multiple, on the other hand in cases without congenital anomalies there were 1282 cases (92.2%) singleton, and 108 cases (7.8%) were multiple. Seventy four of cases (67.3%) with congenital anomalies and 253 of cases (18.2%) without congenital anomalies showed positive consanguinity. As regard family history, sixty two of cases (56.4%) with congenital anomalies and 145 (10.4%) of cases without congenital anomalies were positive. According to type of delivery there were 49 of cases (44.4%) with congenital anomalies delivered by NVD, and 61 cases (55.6%) delivered by CS. Regarding cases without congenital anomalies there were 1004 of cases (72.2%) delivered by CS and 386 cases (27.8%) delivered by NVD. According to Effect of folic acid as prophylaxis against congenital anomalies, mothers who received folic acid had 92/110 (83.6%) of cases with CA, at the meantime 2/92cases (1.8%) had developed neural tube defect. There was a statistically significant difference between the two groups.
● In comparison of mortality rate in critical cases (with and without congenital anomalies). Regarding Congenital anomalies cases, it has been shown that 76 cases of them survived and 34 cases died. As regarding Cases without congenital anomalies, it has been shown that 1010 cases survived and 380 cases died. According to death rate it has been shown that there was no significant difference between cases with and without congenital anomalies (p=0.91).
● The risk factors associated with the occurrence of congenital anomalies. By comparing the maternal age group in first group ≤ 20 years 20 cases and the reference group (20-35years) 30 cases , there was no significant difference between the two groups (p=0.58). By comparing the second group (> 35 years) 60 cases and the reference group, there was a significant difference between the two groups (p=0.04).
Birth weight (kg): by comparing the first group (patients <1.5 kg) were 49 cases and the reference group (patients > 2.5 kg) were 28 cases there was no significant difference between the two groups (p= 0.44). And by comparing the second group (1.5 – 2.5 kg) had 33 cases and the reference group (patients > 2.5 kg) had 28 cases , there was no significant difference between the two groups (p=0.81) respectively.
Prematurity and LBW was found to have a higher risk factor of congenital anomalies.
Gestational age, the Preterm group (< 37 weeks) represented 83 cases and the reference full term group (≥ 37 weeks) had 27 cases , there was a significant difference between the two groups (p=0.03).
Maternal parity: the reference group (from 1 to 2) had 16 cases and the second group (from 3 to 4) had 58 cases, there was no significant difference between the two groups (p= 0.35). By comparing and third group (≥ 5) had 36 cases and the reference group (from 1 to 2) had 16 cases , there was no significant difference among the three groups (p=0.06).
By comparing the type of gestation, the reference group (singleton) had 85 cases , and the second group (multiple) had 25 cases, it was found that there was a significant difference between the two groups (p=0.036).
In antenatal care: by comparing the two groups, the reference group (mothers received antenatal care) were 35 cases and those who didn’t receive antenatal care were 75 cases , there was a significant difference between the two groups (p=0.044).
Regarding maternal illness, mothers who had illness had 75 cases and the reference group who didn’t have illness were 35 cases , there was a significant difference between the two groups (p=0.02).
According to consanguinity, the first group (Positive had 74 cases (67.3%)) and the reference group (negative had 36 cases (32.7%)), there was a significant difference between the two groups (p= 0.33).
Regarding mothers who prescribed folic acid as prophylaxis against neural tube defect. As it will be shown in table 6, mothers who received folic acid were 92/110 of cases with CA, at the meantime only 2/92cases of them had developed neural tube defect (p=0.02).
● The effect of folic acid effect as avoidable factor for developing C.A. As shown in table 6, mothers who received folic acid had 92/110 of cases with CA, at the meantime 2/92cases had developed neural tube defect. There was a statistically significant difference between the two groups.
● The spectrum of congenital anomalies cases that amenable to surgical intervention: Regarding digestive system, 48 cases survived, 8 cases died, 2 cases died after intervention. Tracheooesphageal fistula were 27 cases: 24 cases survived and 3 cases died, duodenal atresia were 13 cases: 10 cases survived and 3 cases died. Anterior abdominal wall defect were 9 cases: 4 cases survived and 5 cases died. Imperforate anus were 7 cases: 5 cases survived and 2 cases died.
According to central nervous system anomalies, there were 2 cases with Meningomyelocele. 1 case survived, 1 case died.
Regarding respiratory system: diaphragmatic hernia were 2 cases; 1 case survived after correction and 1 case died after intervention.
● The outcome of the critical cases: Regarding digestive system, 58 cases survived and 10 cases died; tracheooesphageal fistula were 27 cases: 24 cases survived and 3 cases died. Duodenal atresia were 15 cases: 12 cases survived and 3 cases died. Anterior abdominal wall defect were 9 cases: 7 cases survived and 2 cases died. Imperforate anus were 7 cases: 5 cases survived and 2 cases died. All digestive system cases were amenable to surgical intervention after resuscitation.
Regarding central nervous system anomalies, there were 20 cases. Congenital hydrocephalus were 13 cases: 9 cases survived and 4 cases died. Microcephaly were 5 cases: 3 cases survived and 2 cases died. Meningomyelocele were 2 cases: 1 case survived and 1 case died. All Meningomyelocele cases were amenable to surgical intervention.
As regard cardio vascular system anomalies, there were 15 cases: 6 cases survived and transferred to higher center after resuscitation and 9 cases died due to prematurity, cyanotic heart disease. ventricular septal defect were 7 cases; 4 cases survived and 3 cases died. Atrial septal defect were 5 cases: 1 case survived and 4 cases died. Patent ductus arteriosus were 3 cases: 1 case survived and 2 cases died. All cardiovascular anomalies cases were transferred to a high center after resuscitation and stabilization in NICU.
Urogenital system anomalies were 6 cases. All cases were hydronephrosis secondary to post. Urethral valve obstruction (pelvi-ureteric junction obstruction): 3 cases survived and 3 cases died. All cases underwent surgical correction in urological hospital.
Chromosomal disorders: 2 cases were diagnosed Pateau syndrome (Trisomy 13), 1 case survived and 1 case died. 1 case diagnosed Edward syndrome (Trisomy 18) survived and discharged after stabilization.