Massachusetts
Birth Defects Counts and Prevalence 2018-2022 (Prevalence per 10,000 Live Births)
Defect
Maternal Race/Ethnicity
Total * Notes
White,
Non-Hispanic
Black,
Non-Hispanic
Hispanic,
Non-Hispanic
Asian or
Pacific Islander,
Non-Hispanic
American Indian
or Alaskan Native,
Non-Hispanic
Anencephaly <5 (†) <5 (†) 6 (0.8) <5 (†) 0 (0.0) 116 (3.4)
Anophthalmia / microphthalmia 21 (1.1) 6 (1.7) 13 (1.8) 8 (2.5) 0 (0.0) 60 (1.8)
Anotia / microtia 30 (1.5) 5 (1.4) 20 (2.8) 10 (3.2) 0 (0.0) 70 (2.0)
Aortic valve stenosis 41 (2.1) <5 (†) 12 (1.7) <5 (†) 0 (0.0) 63 (1.8)
Atrial septal defect 449 (23.1) 128 (36.0) 187 (26.2) 62 (19.6) 6 (42.2) 853 (24.9)
Atrioventricular septal defect (endocardial cushion defect) 122 (6.3) 58 (16.3) 53 (7.4) 10 (3.2) <5 (†) 304 (8.9)
Biliary atresia 11 (0.6) 5 (1.4) 5 (0.7) <5 (†) 0 (0.0) 23 (0.7)
Bladder exstrophy 6 (0.3) <5 (†) <5 (†) 0 (0.0) 0 (0.0) 10 (0.3)
Choanal atresia 12 (0.6) <5 (†) 7 (1.0) <5 (†) <5 (†) 26 (0.8)
Cleft lip alone (without cleft palate) 53 (2.7) 0 (0.0) 22 (3.1) 11 (3.5) <5 (†) 109 (3.2)
Cleft lip with cleft palate 75 (3.9) 14 (3.9) 36 (5.0) 7 (2.2) <5 (†) 169 (4.9)
Cleft palate alone (without cleft lip) 110 (5.7) 20 (5.6) 31 (4.3) 20 (6.3) <5 (†) 198 (5.8)
Cloacal exstrophy <5 (†) <5 (†) <5 (†) <5 (†) 0 (0.0) 7 (0.2)
Clubfoot 294 (15.1) 54 (15.2) 122 (17.1) 21 (6.6) <5 (†) 574 (16.8)
Coarctation of aorta 98 (5.0) 24 (6.7) 35 (4.9) 6 (1.9) 0 (0.0) 168 (4.9)
Common truncus (truncus arteriosus or TA) 10 (0.5) <5 (†) <5 (†) <5 (†) 0 (0.0) 24 (0.7)
Congenital cataract 75 (3.9) 7 (2.0) 13 (1.8) 12 (3.8) <5 (†) 110 (3.2)
Congenital posterior urethral valves 20 (2.0) 6 (3.3) 8 (2.2) <5 (†) 0 (0.0) 48 (2.7) 1
Craniosynostosis 148 (7.6) 9 (2.5) 24 (3.4) 9 (2.8) <5 (†) 198 (5.8)
Deletion 22q11.2 29 (1.5) 9 (2.5) 13 (1.8) <5 (†) <5 (†) 73 (2.1)
Dextro-Transposition of great arteries (d-TGA) 45 (2.3) 8 (2.2) 17 (2.4) 6 (1.9) 0 (0.0) 88 (2.6)
Diaphragmatic hernia 52 (2.7) 10 (2.8) 22 (3.1) 14 (4.4) <5 (†) 118 (3.4)
Double outlet right ventricle (DORV) 16 (0.8) 7 (2.0) 10 (1.4) <5 (†) <5 (†) 52 (1.5)
Ebstein anomaly 7 (0.4) <5 (†) 7 (1.0) <5 (†) 0 (0.0) 21 (0.6)
Encephalocele 14 (0.7) <5 (†) 5 (0.7) 0 (0.0) 0 (0.0) 45 (1.3)
Esophageal atresia / tracheoesophageal fistula 49 (2.5) <5 (†) 22 (3.1) <5 (†) 0 (0.0) 83 (2.4)
Gastroschisis 35 (1.8) 7 (2.0) 25 (3.5) 0 (0.0) <5 (†) 87 (2.5)
Holoprosencephaly 10 (0.5) <5 (†) 6 (0.8) 0 (0.0) 0 (0.0) 77 (2.2)
Hypoplastic left heart syndrome 19 (1.0) 6 (1.7) 20 (2.8) <5 (†) 0 (0.0) 84 (2.5)
Hypospadias 778 (78.1) 115 (63.6) 165 (45.7) 50 (30.6) 8 (109.7) 1155 (66.0) 1
Interrupted aortic arch (IAA) 6 (0.3) 6 (1.7) <5 (†) <5 (†) 0 (0.0) 19 (0.6)
Limb deficiencies (reduction defects) 61 (3.1) 20 (5.6) 22 (3.1) 12 (3.8) 0 (0.0) 185 (5.4)
Omphalocele 39 (2.0) 9 (2.5) 17 (2.4) <5 (†) 0 (0.0) 181 (5.3)
Pulmonary valve atresia 20 (1.0) <5 (†) 7 (1.0) 6 (1.9) <5 (†) 51 (1.5)
Pulmonary valve atresia and stenosis 168 (8.6) 23 (6.5) 65 (9.1) 24 (7.6) <5 (†) 308 (9.0)
Rectal and large intestinal atresia / stenosis 72 (3.7) 13 (3.7) 27 (3.8) 13 (4.1) <5 (†) 136 (4.0)
Renal agenesis / hypoplasia 179 (9.2) 35 (9.8) 62 (8.7) 13 (4.1) 0 (0.0) 345 (10.1)
Single ventricle 7 (0.4) <5 (†) <5 (†) <5 (†) <5 (†) 29 (0.8)
Small intestinal atresia / stenosis 46 (2.4) 16 (4.5) 15 (2.1) 6 (1.9) 0 (0.0) 86 (2.5)
Spina bifida without anencephaly 35 (1.8) 7 (2.0) 30 (4.2) 5 (1.6) 0 (0.0) 136 (4.0)
Tetralogy of Fallot (TOF) 84 (4.3) 18 (5.1) 26 (3.6) 13 (4.1) <5 (†) 189 (5.5)
Total anomalous pulmonary venous connection (TAPVC) 13 (0.7) 7 (2.0) 10 (1.4) <5 (†) <5 (†) 38 (1.1)
Transposition of the great arteries (TGA) 56 (2.9) 10 (2.8) 25 (3.5) 7 (2.2) 0 (0.0) 113 (3.3)
Tricuspid valve atresia <5 (†) <5 (†) 6 (0.8) 0 (0.0) 0 (0.0) 17 (0.5)
Tricuspid valve atresia and stenosis 6 (0.3) <5 (†) 10 (1.4) 0 (0.0) 0 (0.0) 28 (0.8)
Trisomy 13 8 (0.4) 5 (1.4) <5 (†) <5 (†) 0 (0.0) 179 (5.2)
Trisomy 18 23 (1.2) 11 (3.1) 23 (3.2) <5 (†) 0 (0.0) 341 (10.0)
Trisomy 21 (Down syndrome) 191 (9.8) 85 (23.9) 114 (16.0) 21 (6.6) 5 (35.2) 1174 (34.3)
Turner syndrome 31 (3.3) <5 (†) 18 (5.1) <5 (†) 0 (0.0) 341 (20.4) 2
Ventricular septal defect 551 (28.3) 100 (28.1) 236 (33.1) 103 (32.6) <5 (†) 1048 (30.6)
Total live births 194485 35583 71398 31608 1422 342374 3
Male Live Births 99653 18077 36086 16339 729 174874
Female Live Births 94832 17505 35311 15269 693 167498
Notes
1- Data for this condition include male and unknown infant sex cases only. Prevalence is calculated per 10,000 male live births.
2- Data for this condition include female and unknown infant sex cases only. Prevalence is calculated per 10,000 female live births.
3- Data for total live births include unknown infant sex.

General comments
†- Counts <5 and associated prevalences are suppressed
*- Data for totals include unknown/other race
Massachusetts
Birth Defects Counts and Prevalence 2018-2022 (Prevalence per 10,000 Live Births)
Defect
Maternal Age
Total *
Less than 35 years 35 of more years
Gastroschisis 77 (3.1) 10 (1.0) 87 (2.5)
Trisomy 13 74 (3.0) 105 (11.0) 179 (5.2)
Trisomy 18 112 (4.5) 227 (23.7) 341 (10.0)
Trisomy 21 (Down syndrome) 396 (16.1) 778 (81.2) 1174 (34.3)
Total live births 246519 95845 342374
Notes
†- Counts <5 and associated prevalences are suppressed
*- Data for totals include unknown/other maternal age
Massachusetts
Notes on Specific Birth Defects
Defect Site Comment
Ventricular septal defect Excludes isolated small (<=4mm) muscular and membranous VSDs
Atrial septal defect Excludes isolated small (<=4mm) atrial septal defects ASDs
Clubfoot Requires treatment for live births and autopsy confirmation for non-livebirths
Universal comment CDC/BPA coding, but with different codes for congenital cataract, diaphragmatic hernia, and DORV
Universal comment Possible/probable cases are excluded
Universal comment Outcomes include live births, stillbirths and unspecified non-live births (terminations/miscarriages)
Universal comment Stillbirths defined as fetal deaths >=20 weeks or >=350 grams
Universal comment Unspecified non-live births include terminations, any GA; and miscarriages <20 weeks or <350grams
Universal comment For live births and for stillbirths, race/ethnicity comes from vital records
Universal comment For other outcomes or when not available, race/ethnicity comes from the medical record