Tennis P. Nov 2014. Topiramate Use During Pregnancy and Major Congenital Malformations in Multiple
Populations
Supplemental Table.
Claims-Based Algorithms to Identify Major Congenital
Malformations, by Body System
Major Congenital Malformation
Type
Restrictive Case Definition Criteria
Central Nervous System
Anencephalus
Note captured as survival to 90 days not expected
Spina bifida without
anencephalus
Qualifies if any of the following conditions are met:
Hydrocephalus without spina
bifida
 Diagnosis of spina bifida is on the same claim as surgical repair of
meningocele/myelomeningocele or other repair and plastic
operations on spinal cord structures.
Qualifies if any of the following conditions are met:
Encephalocele
 Medically attended diagnosis of hydrocephalus is recorded at least
one day after diagnostic imaging of the head or brain.
 Hydrocephalus diagnosis on a claim where the physician specialty is
neurosurgery
 Diagnosis of hydrocephalus on a claim for a shunting procedure
Qualifies if any of the following conditions are met:
Microcephalus
 Any diagnosis of encephalocele plus a neurosurgery procedure
(repair or encephalocele including craniotomy or cranioplasty)
 At least one diagnosis of encephalocele by a neurosurgeon
Qualifies if any of the following conditions are met:
 At least one diagnosis of microcephalus by a neurologist,
neurosurgeon, or clinical geneticist
 At least 2 medically attended microcephalus diagnoses four weeks
apart or more
Eye
Anophthalmia/microphthalmia
Qualifies if any of the following conditions are met:
Congenital cataract
 At least one diagnosis of anophthalmia/microphthalmia by an
ophthalmologist, neurologist or clinical geneticist
Qualifies if any of the following conditions are met:
Aniridia
 At least one diagnosis of congenital cataract by an ophthalmologist,
neurologist or clinical geneticist
Qualifies if any of the following conditions are met:
 At least one diagnosis of aniridia by an ophthalmologist, neurologist
or clinical geneticist
Ear
Anotia/microtia
Qualifies if any of the following conditions are met:
 At least one diagnosis of anotia or microtia by a plastic surgeon, earnose-throat specialist, clinical geneticist, or oral maxillofacial surgeon
Tennis P. Nov 2014. Topiramate Use During Pregnancy and Major Congenital Malformations in Multiple
Populations
Major Congenital Malformation
Type
Restrictive Case Definition Criteria
Cardiovascular
Conotruncal heart defects
Includes
– Common truncus
– Transposition of great
vessels
– Tetralogy of Fallot
Ventricular septal defect
Qualifies if any of the following conditions are met:
 Any medically attended diagnosis for conotruncal heart defect is
recorded at least 1 day after echocardiogram or diagnostic ultrasound
of the heart
 At least 2 medically attended claims are recorded on different days
where at least one cardiologist diagnoses conotruncal heart defect
 Diagnosis is on the same claim as cardiac catheterization or surgical
repair
Qualifies if any of the following conditions are met:
 Any medically attended diagnosis of VSD is recorded at least 1 day
after echocardiogram or diagnostic ultrasound of the heart
 Any diagnosis of VSD on the same claim as cardiac catheterization
or surgical repair (including direct patch closure or transcatheter
closure)
 At least one claim with physician specialty of cardiothoracic surgeon
(pediatric or general) with diagnosis of VSD
 At least 1 medically attended diagnosis of VSD plus prescription
within ± 30 days for
– Furosemide
– Chlorothiazide
– Hydrochlorothiazide
– Hydrochlorothiazide & captopril
– Spironolactone
– ACE Inhibitors
Atrial septal defect
Note: the qualifying medication fill for any of the medications above
must be found in the infant claims within the first 365 days of life
(cannot be found on the mother’s claims)
 Diagnosis of VSD and congestive heart failure (CHF) a on a claim for
hospitalization where the infant is at least 2 days old at admission
Qualifies if any of the following conditions are met:
 Any medically attended diagnosis of ASD is recorded at least 1 day
after echocardiogram or diagnostic ultrasound of the heart
 At least 2 medically attended claims are recorded on different days
where at least one cardiologist diagnoses ASD and one diagnosis of
ASD appears after age 7 days.
 Diagnosis of ASD is found on a claim with codes for catheterization
or surgical repair.
 At least one claim with physician specialty of CT surgeon (pediatric or
adult) with diagnosis of ASD
 Diagnosis of ASD and CHF a on a claim for hospitalization where the
infant is at least 2 days old at admission
Tennis P. Nov 2014. Topiramate Use During Pregnancy and Major Congenital Malformations in Multiple
Populations
Major Congenital Malformation
Type
Atrioventricular septal defect
Pulmonary valve atresia and
stenosis
Tricuspid valve atresia and
stenosis
Ebstein anomaly
Restrictive Case Definition Criteria
Qualifies if any of the following conditions are met:
 Any medically attended diagnosis of ASD is recorded at least 1 day
after echocardiogram or diagnostic ultrasound of the heart
 Diagnosis of ASD is on the same claim as cardiac catheterization or
surgical repair
Qualifies if any of the following conditions are met:
 Any medically attended diagnosis of pulmonary valve stenosis is
recorded at least 1 day after echocardiogram or diagnostic ultrasound
of the heart
 Diagnosis on claim where the physician specialty is cardiology or
cardiothoracic surgeon
 Diagnosis is on the same claim as catheterization or surgical repair
Qualifies if any of the following conditions are met:
 Any medically attended diagnosis of tricuspid valve atresia and
stenosis is recorded at least 1 day after echocardiogram or diagnostic
ultrasound of the heart
 At least 2 medically attended claims are recorded on different days
where at least one cardiologist diagnoses tricuspid valve atresia and
stenosis
 Diagnosis of tricuspid valve atresia and stenosis is on the same claim
as cardiac catheterization or surgical repair (including direct patch
closure or transcatheter closure)
 At least one diagnosis of tricuspid valve atresia and stenosis by a
cardiothoracic surgeon (pediatric or general)
 Discharge diagnosis of tricuspid valve atresia and stenosis from a
hospitalization where the infant is at least 2 days old at admission
Qualifies if any of the following conditions are met:
 Any medically attended diagnosis code is recorded at least 1 day
after echocardiogram or diagnostic ultrasound of the heart
 At least 2 medically attended claims are recorded on different days
where at least one cardiologist diagnoses Ebstein anomaly
 Diagnosis of Ebstein anomaly is on the same claim as cardiac
catheterization or surgical repair (including direct patch closure or
transcatheter closure)
 Diagnosis of Ebstein anomaly by a cardiothoracic surgeon (pediatric
or general)
 Discharge diagnosis of Ebstein anomaly from a hospitalization where
the infant is at least 2 days old at admission
Tennis P. Nov 2014. Topiramate Use During Pregnancy and Major Congenital Malformations in Multiple
Populations
Major Congenital Malformation
Type
Aortic valve stenosis
Hypoplastic left heart
syndrome
Restrictive Case Definition Criteria
Qualifies if any of the following conditions are met:
 Any medically attended diagnosis code is recorded at least 1 day
after echocardiogram or diagnostic ultrasound of the heart
 At least 2 medically attended claims are recorded on different days
where at least one cardiologist diagnoses aortic valve stenosis
 Diagnosis of aortic valve stenosis is on the same claim as cardiac
catheterization or surgical repair (including direct patch closure or
transcatheter closure)
 Diagnosis of aortic valve stenosis by a cardiothoracic surgeon
(pediatric or general)
 Discharge diagnosis of aortic valve stenosis from a hospitalization
where the infant is at least 2 days old at admission
Qualifies if any of the following conditions are met:
Patent ductus arteriosus
 Any medically attended diagnosis of hypoplastic left heart is recorded
at least 1 day after echocardiogram or diagnostic ultrasound of the
heart
 At least 2 medically attended claims are recorded on different days
where at least one cardiologist diagnoses hypoplastic left heart
syndrome
 Diagnosis of hypoplastic left heart is on the same claim as cardiac
catheterization or surgical repair (including direct patch closure or
transcatheter closure)
 Diagnosis of hypoplastic left heart syndrome by a cardiothoracic
surgeon (pediatric or general)
 Discharge diagnosis of hypoplastic left heart from a hospitalization
where the infant is at least 2 days old at admission
Qualifies if any of the following conditions are met:
Coarctation of aorta
 Medically attended diagnosis seen at least once on or after age 28
days
 No diagnoses of premature birth
Qualifies if any of the following conditions are met:
 Any medically attended diagnosis of coarctation of aorta is recorded
at least 1 day after echocardiogram or diagnostic ultrasound of the
heart
 At least 2 medically attended claims are recorded on different days
where at least one cardiologist diagnoses coarctation of aorta
 Diagnosis of coarctation of aorta is on the same claim as cardiac
catheterization or surgical repair (including direct patch closure or
transcatheter closure)
 Diagnosis of coarctation of aorta by a cardiothoracic surgeon
(pediatric or general)
 Discharge diagnosis of coarctation of aorta from a hospitalization
where the infant is at least 2 days old at admission
Tennis P. Nov 2014. Topiramate Use During Pregnancy and Major Congenital Malformations in Multiple
Populations
Major Congenital Malformation
Type
Restrictive Case Definition Criteria
Orofacial
Oral clefts
Qualifies if any of the following conditions are met:
Choanal atresia
 At least one diagnosis of oral cleft plus evidence of repair of cleft lip
or palatoplasty
 Diagnosis of oral cleft where the physician specialty is ear-nosethroat specialist, oral maxillofacial surgeon or plastic surgeon
Qualifies if any of the following conditions are met:
 Diagnosis of choanal atresia is on the same claim as consultation
with an ear-nose-throat specialist, oral maxillofacial surgeon or plastic
surgeon
 Diagnosis of choanal atresia is on the same claim as surgical repair
Gastrointestinal
Esophageal atresia/
tracheoesophageal fistula
Rectal and large intestinal
atresia/stenosis
Pyloric stenosis
Hirschsprung disease
(congenital megacolon)
Qualifies if any of the following conditions are met:
 Diagnosis of esophageal atresia is on the same claim as surgical
repair (closure or repair of external fistula of trachea)
Qualifies if any of the following conditions are met:
 Diagnosis of rectal atresia/stenosis is on the same claim as surgical
repair or related procedures
Qualifies if there is medically attended or inpatient diagnosis plus
surgical repair
Qualifies if any of the following conditions are met:
Biliary atresia
 Medically attended diagnosis Hirschsprung disease at least one day
after rectal biopsy
 Diagnosis of Hirschsprung disease on the same claim as a procedure
surgical procedures
Qualifies if any of the following conditions are met:
Renal agenesis/hypoplasia
 Principle discharge diagnosis of biliary atresia is for an inpatient stay
 Diagnosis of biliary atresia where the physician specialty is
gastrointestinal or hepatology
 Diagnosis of biliary atresia is on the same claim as surgical repair
Qualifies if any of the following conditions are met:
Bladder exstrophy
 Any medically attended diagnosis of renal agenesis is recorded at
least 1 day after imaging of retroperitoneum
Qualifies if any of the following conditions are met:
Obstructive genitourinary
defect
Hypospadias/epispadius
 Diagnosis of bladder exstrophy is on the same claim as surgical
repair
Qualifies if any of the following conditions are met:
 Any medically attended diagnosis code at least 1 day after imaging
and other diagnostic procedures
Qualifies if any of the following conditions are met:
 At least one diagnosis of hypospadias or epispadius where the
physician specialty is urology
 Diagnosis of hypospadias or epispadius on the same claim as
surgical repair
Tennis P. Nov 2014. Topiramate Use During Pregnancy and Major Congenital Malformations in Multiple
Populations
Major Congenital Malformation
Type
Restrictive Case Definition Criteria
Musculoskeletal
Reduction deformity
Qualifies if any of the following conditions are met:
Gastroschisis/omphalocele
 At least two diagnoses of reduction deformity are found at least two
weeks apart
 Any diagnosis of reduction deformity where the physician specialty is
orthopedics
 Medically attended diagnosis at least 1 day after x-ray of limb
Qualifies if any of the following conditions are met:
Congenital dislocation or
dysplasia of the hip
Diaphragmatic hernia
 Diagnosis of gastroschisis or omphalocele is on the same claim as
surgical repair
Qualifies if any of the following conditions are met:
 Medically attended diagnosis of congenital dislocation or dysplasia of
the hip at least 1 day after hip x-ray or u/s
 Diagnosis of congenital dislocation or dysplasia of the hip with leg
braces in the same claim
 Diagnosis where the physician specialty is orthopedics
 Three or more medically attended diagnoses of congenital hip
dislocation on separate dates
Qualifies if any of the following conditions are met:
 Diagnosis of diaphragmatic hernia is on the same claim as surgical
repair
Note: Unless specified otherwise, the search for diagnostic codes was of the infant’s claims during the
365 days after birth and the mother’s claims on or during the 30 days after the birth date.
ACE, angiotensin-converting enzyme; ASD, atrial septal defect; CHF, congestive heart failure; CT,
cardiothoracic; VSD, ventricular septal defect.