TABLE 3.

Counts and proportions of core birth defects in Turner syndrome cases (N = 1872) by karyotype.

Birth defect	45,X	Other	Totala	Percent of all cases (95% CI)
Coarctation of the aorta	163	55	218	11.6 (10.2–13.2)
Atrial septal defect	82	46	128	6.8 (5.7–8.1)
Ventricular septal defect	48	25	73	3.8 (3.1–4.9)
Hypoplastic left heart syndrome	49	18	67	3.6 (2.8–4.5)
Bicuspid aortic valve	50	15	65	3.5 (2.7–4.4)
Horseshoe kidney	46	17	63	3.4 (2.6–4.3)
Aortic valve stenosis	27	16	43	2.3 (1.7–3.1)
Renal agenesis/hypoplasia	16	5	21	1.1 (0.7–1.7)
Omphalocele	18	0	18	1 (0.6–1.5)
Mitral valve stenosis	5	4	9	0.5 (0.2–0.9)
Clubfoot	6	4	10	0.5 (0.3–1.0)
Atrioventricular septal defect	6	1	7	0.4 (0.2–0.8)
Cleft palate alone	5	3	8	0.4 (0.2–0.8)
Limb deficiencies (reduction defects)	6	1	7	0.4 (0.2–0.8)
Rectal and large intestinal atresia/stenosis	5	0	5	0.3 (0.1–0.6)
Spina bifida without anencephaly	2	2	4	0.2 (0.1–0.5)
Anophthalmia/microphthalmia	3	1	4	0.2 (0.1–0.5)
Interrupted aortic arch	3	1	4	0.2 (0.1–0.5)
Pulmonary valve atresia and stenosis	3	1	4	0.2 (0.1–0.5)
Transposition of the great arteries	2	1	3	0.2 (0.0–0.5)
Tricuspid valve atresia and stenosis	2	1	3	0.2 (0.0–0.5)
Cleft lip with cleft palate	3	1	4	0.2 (0.1–0.5)
Cleft lip alone	3	0	3	0.2 (0.0–0.5)
Esophageal atresia/ Tracheoesophageal fistula	0	2	3	0.2 (0.0–0.5)
Diaphragmatic hernia	2	2	4	0.2 (0.1–0.5)
Encephalocele	1	0	1	0.1 (0.0–0.3)
Ebstein anomaly	0	2	2	0.1 (0.0–0.4)
Tetralogy of Fallot	0	2	2	0.1 (0.0–0.3)
Choanal atresia	0	1	1	0.1 (0.0–0.3)
Biliary atresia	1	0	1	0.1 (0.0–0.3)
Small intestinal atresia/stenosis	1	0	1	0.1 (0.0–0.3)
Gastroschisis	2	0	2	0.1 (0.0–0.3)

^aCounts indicate the number of defects and do not reflect the number of cases, as a case can be counted in more than one category.