Skip to main content
. 2020 Aug 17;182(10):2297–2316. doi: 10.1002/ajmg.a.61787

TABLE 3.

Individual birth prevalence reports and study characteristics by region and by country

Study quality
Author (s), year Country Sub‐National Birth prevalence Birth period Study design/data source Study population Specialized care a Sample size Data source Diagnostic method Numerator Denominator Population size
North America
(Alonso Lotti et al., 1998) Cuba 13 of the 15 regions 4.42 1985/03–1996/12 RECUMAC Live births, stillbirths No 520,578 Strong Moderate Strong Strong Strong
(Guzmán‐Huerta et al., 2012) Mexico UNIMEF 10.99 b 1995/01–2009/12 Review of hospital charts of patients seen at the National Institute of Perinatal Medicine Live births, stillbirths Yes 81,892 Moderate Strong Strong Strong Weak
(Kallen et al., 1993) Mexico NR 2.51 b 1978–1988 Programa Mexicano de Registro y vigilancia epidemiogica de malformaciones congentias externas Live births, stillbirths No 359,000 Strong Weak Strong Strong Strong
(Curran, Sigmon, & Opitz, 1974) USA New Jersey 4.00 b NR (“past 10 years,” <1973) Records from the Margaret Hague Maternity Hospital Live births No 75,000 Moderate Strong Strong Strong Weak
(Langlois & Scheuerle, 2015) USA Texas 2.66 b 1999–2009 Records in the Texas Birth Defects Registry Live births, stillbirths, elective terminations No 4,207,898 Strong Weak Strong Weak Strong
(Rasmussen et al., 1996) USA Boston, Massachusetts 2.37 1972/02–1975/02, 1979/01–1990/12 Brigham and Women's Hospital active malformation surveillance system Live births, stillbirths >20 w, elective terminations Yes 126,316 Moderate Strong Strong Strong Moderate
(Stevenson, Carey, Byrne, Srisukhumbowornchai, & Feldkamp, 2012) USA Utah 3.53 1999–2008 UBDN Live births, stillbirths, elective terminations No 509,286 Strong Strong Strong Strong Strong
(Waller et al., 2008) USA Arkansas 5.20 1993–1999 Arkansas Reproductive Health Monitoring System Live births, stillbirths >20 w, elective terminations >20 w No 250,000 Strong Moderate Strong Weak Strong
Atlanta 3.89 1968–2001 Atlanta Congenital Defects Program 1,129,972 Strong Moderate Strong Weak Strong
California 4.70 1983–1997 California Birth Defects Monitoring System 3,572,233 Strong Moderate Strong Weak Strong
Iowa 4.09 1983–2001 Iowa Register for Congenital and Inherited Disorders 733,196 Strong Moderate Strong Weak Strong
New York 3.60 1992–2001 New York State Congenital Malformations Registry 2,664,131 Strong Moderate Strong Strong Strong
Oklahoma 5.99 1994–2003 Oklahoma Birth Defects Registry 484,013 Strong Moderate Strong Weak Strong
Texas 3.87 1996–2002 Texas Birth Defects Epidemiology and Surveillance Branch 2,042,554 Strong Moderate Strong Weak Strong
(Woolf & Turner, 1969) USA Salt Lake City, Utah 13.43 b 1951–1961 Retrospective review of nursery records in the Latter‐day Saints Hospital Live births No 59,561 Moderate Weak Strong Strong Weak
South America
(Barbosa‐Buck et al., 2012) Argentina, Bolivia, Brazil, Chile, Colombia, Ecuador, Paraguay, Uruguay, and Venezuela NR 4.40 2000/01–2007/12 ECLAMC Live births, stillbirths >500 g No 1,544,496 Strong Moderate Strong Strong Strong
(Duarte et al., 2018) Argentina 24 jurisdictions 4.75 2009/11–2016/12 RENAC Live births, stillbirths >500 g No 1,663,610 Strong Moderate Strong Strong Strong
(Kallen et al., 1993) All South American Countries NR 1.93 b 1967–1989 ECLAMC Live births, stillbirths No 2,278,000 Strong Weak Strong Strong Strong
(Orioli et al., 1995) South America NR 1.64 1967–1981 ECLAMC Live births No 852,893 Strong Strong Strong Strong Strong
South America NR 2.00 1982–1992 No 2,054,682 Strong Strong Strong Strong Strong
(Sánchez, Brito‐Arreaza, Alvarez‐Arratia, & Ramírez, 1991) Venezuela Ciudad Bolívar 14.25 1978/04–1990/08 Congenital malformations surveillance program at Ruiz y Paez Hopital Live births until 1979–12, live births, stillbirths thereafter No 70,152 Moderate Strong Strong Strong Weak
Europe
(Coi et al., 2019) Austria Styria 1.62 1991–2012 EUROCAT Live births, stillbirths ≥20 w, elective terminations No 247,210 Strong Moderate Strong Strong Strong
Belgium Antwerp 5.49 1991–2014 No 400,634 Strong Moderate Strong Strong Strong
Croatia Zagreb 3.73 1991–2015 No 160,988 Strong Moderate Strong Strong Moderate
(Andersen Jr & Hauge, 1989) Denmark Fyn 1.28 1970/01/01–1983/12/31 County hospital records Live births, stillbirths No 77,977 Moderate Moderate Strong Strong Weak
(Coi et al., 2019) Denmark Odense 5.22 2000–2014 EUROCAT Live births, stillbirths ≥20 w, elective terminations No 76,625 Strong Moderate Strong Strong Weak
(Kallen et al., 1993) Denmark NR 0.61 b 1983–1988 Danish National Board of Health: Registry of Congenital Malformations Live births, stillbirths No 328,000 Strong Weak Strong Strong Strong
(Coi et al., 2019) France Auvergne 3.89 1991–2015 EUROCAT Live births, stillbirths ≥20 w, elective terminations No 334,612 Strong Moderate Strong Strong Strong
France Isle de Reunion 5.94 2001–2015 No 218,796 Strong Moderate Strong Strong Strong
France Paris 6.11 1991–2015 No 768,885 Strong Moderate Strong Strong Strong
(Stoll, Dott, Roth, & Alembik, 1989) France City of Strasbourg (urban area) and “Département du Bas‐Rhin” (rural area) 6.64 19 79/01–1986/12 Registry of all newborn children in Strasbourg and Department du Bas‐Rhin Live births, stillbirths No 105,374 Strong Strong Strong Strong Moderate
(Coi et al., 2019) Germany Saxony Anhalt 4.76 1991–2015 EUROCAT Live births, stillbirths ≥20 w, elective terminations No 357,516 Strong Moderate Strong Strong Strong
(Kallen et al., 1993) Italy NR 3.42 b 1978–1988 Italian birth defects monitoring system (IPIMC) Live births, stillbirths No 1,256,000 Strong Weak Strong Strong Strong
(Camera, 1980) Italy Genoa 1.86 b 1960–1980/02 Records of osteochondroplasias encountered in the maternity ward of a single hospital NR No 53,700 Moderate Weak Weak Weak Weak
(Camera & Mastroiacovo, 1988) Italy NR 3.70 1978–1985 IMMSBD Live births, stillbirths No 838,717 Strong Strong Strong Strong Strong
(Coi et al., 2019) Italy Emilia Romagna 5.70 1991–2015 EUROCAT Live births, stillbirths ≥20 w, elective terminations No 806,485 Strong Moderate Strong Strong Strong
(Coi et al., 2019) Tuscany 5.06 1991–2015 No 672,268 Strong Moderate Strong Strong Strong
(Orioli et al., 1995) Italy NR 3.61 1978–1991 IPIMC Live births, stillbirths No 1,494,756 Strong Weak Strong Strong Strong
(Coi et al., 2019) Ireland Cork&Kerry 3.34 1996–2015 EUROCAT Live births, stillbirths ≥20 w, elective terminations No 179,563 Strong Moderate Strong Strong Strong
Malta NR 6.35 1991–2015 No 110,174 Strong Moderate Strong Strong Moderate
Netherlands Northern region 3.01 1991–2015 No 465,261 Strong Moderate Strong Strong Strong
Norway NR 2.39 1999–2012 No 836,535 Strong Moderate Strong Strong Strong
Poland Wielkopolska 4.47 1999–2015 No 626,876 Strong Moderate Strong Strong Strong
Spain Basque County 2.72 1991–2015 No 441,896 Strong Moderate Strong Strong Strong
Spain Valencia region 2.69 2007–2015 No 446,903 Strong Moderate Strong Strong Strong
(Martínez‐Frías et al., 1991) Spain 16 of the 17 Spanish Regions (Comunidades Autonomas) 2.53 1976/04–1988/12 ECEMC Live births No 710,815 Strong Moderate Strong Strong Strong
(Gustavson & Jorulf, 1975) Sweden Uppsala 6.75 b 1970/02–1974/08 Prospective collection of neonatal disorders and anomalies of the skeleton at the University Hospital in Uppsala Live births, stillbirths No 14,816 Moderate Strong Strong Strong Weak
(Kallen et al., 1993) Sweden NR 1.64 b 1965–1989 Swedish register of congenital malformations Live births, stillbirths No 2,375,000 Strong Weak Strong Strong Strong
(Coi et al., 2019) Switzerland Vaud 3.63 1991–2015 EUROCAT Live births, stillbirths ≥20 w, elective terminations No 192,684 Strong Moderate Strong Strong Strong
UK Wessex 4.07 1994–2015 No 615,000 Strong Moderate Strong Strong Strong
UK Wales 3.48 1998–2015 No 602,776 Strong Moderate Strong Strong Strong
UK South West England 3.12 2005–2015 No 545,302 Strong Moderate Strong Strong Strong
UK Northern England 3.03 1991–2015 No 824,745 Strong Moderate Strong Strong Strong
UK Thames Valley 1.94 1991–2015 No 411,928 Strong Moderate Strong Strong Strong
(Gardner, 1977) UK Edinburgh 1.93 b 1964/04–1968/10 Edinburgh Register of the Newborn Live births, stillbirths No 51,836 Strong Strong Strong Strong Weak
2.73 b 1968/11–1973/12, 1968/11–1972/11 Birth records at the Simpson Memorial Maternity Pavilion of the Royal Infirmary and at the Eastern General Hospital Live births, stillbirths No 36,569 Moderate Strong Strong Strong Weak
(Harris & Patton, 1971) UK Manchester 6.26 b 1951–1969 Reassessment of cases of achondroplasia from birth records at St. Mary's Hospital, Manchester Live births, stillbirths No 63,934 Moderate Moderate Strong Strong Weak
(Sokal, Tata, & Fleming, 2014) UK Whole country 7.56 b 1990–2009 Prospectively collected primary care data from THIN Live births No 794,169 Moderate Weak Strong Strong Strong
(Stevenson, 1957) UK Belfast 28.34 1938/01–1956/06 Records of the Royal Maternity Hospital Live births, stillbirths No 31,753 Moderate Moderate Strong Strong Weak
(Coi et al., 2019) Ukraine OMNI‐net 6.00 2005–2015 EUROCAT Live births, stillbirths ≥20 w, elective terminations No 333,189 Strong Moderate Strong Strong Strong
Northern Africa/Middle East
(Golalipour, Ahmadpour‐Kacho, & Vakili, 2005) Iran Gorgan 40.02 1998/01–1999/08 Prospective collection of congenital malformation frequency at a referral hospital in Gorgan Live births, stillbirths Yes 9,996 Moderate Moderate Strong Strong Weak
(Golalipour, Kaviany, Golalipour, Mirfazeli, & Behnampour, 2018) Iran Gorgan, Golestan Provincein 33.44 2007/03–2011 Prospective collection of frequencies of congenital limb defects in 3 hospitals in Gorgan Live births Yes 32,895 Strong Moderate Strong Strong Weak
(Alaani, Al‐Fallouji, Busby, & Hamdan, 2012) Iraq Fallujah 16.53 b 2009/11–2010/09 Records from a single pediatric clinic Live births Yes 6,049 Moderate Weak Strong Strong Weak
(Al‐Ani et al., 2012) Iraq Al‐Anbar governorate 52.25 2010/10–2011/10 WICCARS Live births Yes 5,742 Strong Moderate Strong Strong Weak
(Al‐Janabi, 2007) Iraq Al‐Anbar governorate 241.60 2000/07–2002/06 Prospective collection of congenital malformation frequency at the Maternal and Children Hospital in Al‐Anbar governate Live births, stillbirths No 12,831 Moderate Moderate Strong Strong Weak
(Al‐Obaidi, Mahmood, & Al‐Dalla Ali, 2013) Iraq Ramadi 66.93 2009/02–2009/10 Prospective collection of congenital malformation frequency at the Maternity and Children Teaching Hospital in Ramadi Live births, stillbirths No 1,494 Moderate Moderate Strong Strong Weak
(Al‐Rubaii, Al‐Tufaily, & Fakhri, 2009) Iraq Babylon 62.82 b 2007/01–2008/01 Records from Babylon Maternity and Pediatrics Teaching Hospital Live births No 9,551 Moderate Moderate Strong Weak Weak
(Taboo, 2012) Iraq Mosul 34.21 b 2009/01–2010/12 Prospective study of congenital abnormalities at Lahore General Hospital Live births, stillbirths No 46,775 Moderate Moderate Strong Strong Weak
(Madi, Al Naggar, Al Awadi, & Bastaki, 2005) Kuwait Al‐Jahra Region 12.92 b 2000/01–2001/12 Data from the newborn register at AL‐Jahra Hospital Live births, stillbirths No 7,739 Moderate Strong Strong Strong Weak
(Bittar, 1998) Libanon Southern sector of Beirut, Baalbak, Hermel and South Lebanon 25.87 1991/02–1993/07 Prospective collection of congenital malformation frequency at a large hospital in south Beirut Live births, stillbirths No 3,865 Moderate Moderate Strong Strong Weak
(Al‐Jama, 2001) Saudi Arabia Al‐Khobar 6.77 1992/01–1997/12 Retrospective examination of delivery room records Singleton live births Yes 14,762 Moderate Strong Strong Strong Weak
(Sallout et al., 2015) Saudi Arabia Riyadh 48.14 2007/01–2012/12 Prospective collection of data on congenital anomalies in the obstetrics and gynecology ultrasound unit King Fahad Medical City Live births Yes 29,084 Moderate Moderate Strong Strong Weak
(Al‐Gazali et al., 2003) UAE Al Ain Medical District 10.51 1996/01–2000/12 Active malformation surveillance system in Al Ain Medical District Live births, stillbirths No 38,048 Strong Strong Strong Strong Weak
Sub‐Saharan Africa
(Charlotte, Aurore, Charlotte, Esther, & Eugene, 2015) Camaroon NR 16.53 b 2008/01–2012/06 Prospective collection of congenital malformation frequency at Doala General Hospital Live births, stillbirths Yes 6,048 Moderate Moderate Strong Strong Weak
(Ekanem et al., 2008) Nigeria Cross River and Akwa Ibom states 3.13 1980–2003 Records from University of Calabar Teaching Hospital, St Luke's Hospital Anua, Uyo, and St Mary's Hospital Uruakpan NR Yes 127,929 Moderate Weak Weak Weak Moderate
(Ekanem, Bassey, Mesembe, Eluwa, & Ekong, 2011) Nigeria Port Harcourt, Rivers state 12.60 b 1990–2003 Records from 2 major hospitals in Port Harcourt NR Yes 39,693 Moderate Weak Weak Weak Weak
(Sunday‐Adeoye, Okonta, & Egwuatu, 2007) Nigeria Afiko, Ebonyi State 38.62 b 1980/01–1999/12 Records births at the Mater Misericordiae Hospital NR No 33,659 Strong Moderate Strong Strong Weak
(Delport, Christianson, Van den Berg, Wolmarans, & Gericke, 1995) South‐Africa Pretoriaz 5.76 1986/05–1989/04 Prospective collection of congenital malformation frequency at the Kalafong Hospital Live births Yes 17,351 Moderate Moderate Strong Strong Weak
South‐East Asia/Oceania
(Oberklaid, Danks, & Jensen, 1979) Australia Victoria 3.85 1969–1975 Royal Children's Hospital records and surveys of all pediatricians, radiologists, orthopedic surgeons in Victoria (1968–1970). Newspaper and television publicity, Little Peoples' Association of Australasia, and personal visits to rural areas to ascertain additional cases. NR No 492,889 Weak Weak Weak Weak Strong
(Kallen et al., 1993) Australia NR 4.93 b 1981–1989 Data from Australian National data systems for (1) congenital malformations and (2) for pregnancies resulting from in vitro fertilization. Live births, stillbirths No 1,946,000 Strong Weak Strong Strong Strong
(Jaikrishan et al., 2013) India NR 11.38 1995/08–2011/06 Prospective collection of congenital malformation frequency in 7 government hospitals serving people from high and normal national radiation areas Live births, stillbirths >28 w No 140,558 Moderate Moderate Strong Strong Moderate
(Kusumalatha et al., 2017) India Kakinada 14.40 b 2016/01–2016/12 Hospital‐based cross‐sectional study Live births, stillbirths No 13,893 Moderate Moderate Strong Strong Weak
(Rasheed & Haseeb, 2016) India Maharashtra 14.26 1994/03–1995/04 Prospective collection of frequencies of congenital anomalies at Marden Medical Complex Live births, stillbirths Yes 7,012 Moderate Moderate Strong Strong Weak
(Higurashi et al., 1990) Japan Tokyo 10.92 1972/07–1985/12 Records from consecutive births in a single large maternity hospital in Tokyo Live births No 27,472 Moderate Moderate Strong Strong Weak
(Peng, 1988) Malaysia State of Kedah 10.12 1984/04–1987/03 Records of live births occurring in Alor Setar General Hospital Live births Yes 19,769 Moderate Moderate Strong Strong Weak
(Qadir, Amir, & Bano, 2017) Pakistan Mardan 10.58 b 2016/05–2017/04 Prospective collection of frequencies of congenital anomalies at Government Medical College and Hospital NR No 9,453 Moderate Moderate Weak Weak Weak
(Tariq, 2010) Pakistan Lahore 34.82 b 2007/01–2007/12 Prospective study of congenital abnormalities at Al‐Batool Teaching Hospital of Obstetrics and Gynecology NR No 2,872 Moderate Moderate Weak Weak Weak
(Nasreen, Naib, & Ibrar, 2016) Pakistan Peshawar 0.00 b 2007/06–2009/06 Prospective collection of data on congenital anomalies at Khyber Teaching Hospital NR No 6,297 Moderate Moderate Weak Weak Weak
(Jaruratanasirikul et al., 2016) Thailand Songkhla, Trang and Phatthalung 2.68 b 2009/01–2013/12 Records from Bureau of Policy and Strategy, Ministry of Public Health Live births, stillbirths, elective terminations No 186,393 Strong Moderate Strong Strong Strong

Abbreviations: ECEMC, Spanish Collaborative Study of Congenital Malformations; ECLAMC, Latin American Collaborative Study of Congenital Malformations; EUROCAT, European network of population‐based registries for the epidemiological surveillance of congenital anomalies; g, grams; IMMSBD, Italian birth defects monitoring system; NR, not reported; OMNI‐NET, Ukraine Birth Defects Program; RECUMAC, Registry of Congenital Malformations; RENAC, Records from National Network of Congenital Anomalies of Argentina; THIN, the Health Improvement Network; UBDN, Utah Birth Defect Network; UK, United Kingdom; UNIMEF, Department of Maternal Fetal Medicine; USA, United States of America; W, weeks; WICCARS, Western Iraq Center for Congenital Anomalies Registry and Surveillance.

a

Yes: Women who gave birth at a referral center or tertiary hospital. No: Women who gave birth in other settings.

b

Calculated per 100,000 births based on raw data provided in the article.