Prevalence and Patterns of Congenital Heart Defects and Other Major Non-Syndromic Congenital Anomalies Among Down Syndrome Patients: A Retrospective Study

Figures & data

Figure 1 Maternal age at conception of DS patients on follow up at TASH.

Explanations: Color Labels: to show distribution of maternal age at conception.

Table 1 Congenital Cardiac Anomaly Phenotypes Among DS Patients on Follow-Up at TASH

Type of Congenital Cardiac Anomaly	Frequency	Percent
Patent ductus arteriosus	133	28.5
Ventricular septal defect	108	23.2
Atrioventricular septal defect	102	21.9
Atrial septal defect	94	20.2
Tetralogy of Fallot	9	1.9
Pulmonary valve stenosis	8	1.7
Bilateral superior vena cava	5	1.1
Coarctation of the aorta	5	1.1
Others	2	0.4
Total	466*	100

Notes: Others: Double outlet right ventricle and Tricuspid valve dysplasia. *Diagnosis of multiple anomalies considered in calculations.

Figure 2 Distribution of congenital anomalies among DS patients on follow-up at TASH.

Explanations: X-axis shows types of congenital anomalies diagnosed among DS patients. Y-axis shows percentage of the congenital anomalies diagnosed. Types of congenital anomalies. Cardiac Anomalies (67.3%). HEENT (Head, Eye, Ear, Nose, and throat) Anomalies (8%). GUS (Genito-urinary System) Anomalies (6.4%). GI (Gastro-intestinal) Anomalies (5.2%). RS (Respiratory System) Anomalies (1%). Limb Anomalies (1%).

Figure 3 Types of VSD cases diagnosed among DS patients on follow-up at TASH.

Explanations: Color Labels: to show different types of ventricular septal defect cases.

Note: Others include mixed muscular with perimembranous and Swiss cheese type VSD.

Table 2 Congenital GUS Anomalies Among DS Patients on Follow-Up at TASH

Variable		Frequency	Percent
GUS Anomalies	Cryptorchidism	21	52.5
	Micropenis	5	12.5
	Pelvo-ureteric junction obstruction	5	12.5
	Hypospadias	3	7.5
	Multi-cystic dysplastic kidney	2	5.0
	Posterior urethral valve	2	5.0
	Others	2	5
	Total	40*	100.0

Notes: Others: Ectopic kidney and Hypoplastic kidney. *Diagnosis of multiple anomalies considered in calculations.

Table 3 Congenital GI Anomalies Among DS Patients on Follow-Up at TASH

Variable		Frequency	Percent
GI Anomalies	Anorectal malformation	11	39.3
	Hirschsprung disease	6	21.4
	Hernia^^	9	32.1
	Duodenal atresia	2	7.1
	Total	28*	100

Notes: *Diagnosis of multiple anomalies considered in calculations. ^{^}Umbilical and Diaphragmatic hernia.

Table 4 Logistic Regression Analysis of Predictive Factors for Development of Cardiac Congenital Anomalies Among DS Patients on Follow-Up at TASH

Variable	Predictive Factors	Univariate Analysis	Multivariate Analysis
		p-value	p-value	AOR	95% C.I. for OR
					Lower	Upper
Presence of at least one Cardiac anomaly	Maternal age at conception	0.00	0.00	2.37	1.52	3.70
	Birth order	0.08
	RVI exposure in womb	0.19
Presence of multiple Cardiac anomalies	Maternal age at conception	0.01	0.01	1.73	1.12	2.66
	Sex	0.01	0.01	1.72	1.12	2.64

Note: <35 maternal ages at conception and male sex considered as reference categories.

Abbreviations: AOR, Adjusted odds ratio; CI, confidence interval; RVI, Retroviral infection.