216-RICR-10-10-3
216-RICR-10-10-3. Rhode Island Birth Defects Registry (version Adoption, 11/29/2005 to 03/08/2017)
RULES AND REGULATIONS
PERTAINING TO THE RHODE ISLAND
BIRTH DEFECTS REGISTRY
(R23-13.3-BD)
STATE OF RHODE ISLAND AND PROVIDENCE PLANTATIONS
DEPARTMENT OF HEALTH
November 2005
i
INTRODUCTION
These Rules and Regulations Pertaining to the Rhode Island Birth Defects Registry(R23-13.3-
BD) are promulgated pursuant to the authority conferred in Chapters 23-13.3 and 42-35 of the General
Laws of Rhode Island, as amended, and are hereby adopted for the purpose of establishing a unified
procedure for the reporting of birth defects of newborns and spontaneous fetal deaths to the Rhode
Island Birth Defects Registry.
The Rhode Island General Assembly has found that birth defects are a major cause of infants
deaths and childhood disabilities; and that early recognition and response to birth defects often prevents
more serious effects; and that the epidemiological patterns of specific birth defects may provide keys to
improved birth outcomes. An active birth defects surveillance and information system is essential to
developing programs and disseminating information that can reduce birth defects and infant mortality.
An active birth defects surveillance and information system serves to: (a) Describe occurrence of birth
defects in the newborn and children up to five; (b) Detect trends of morbidity and mortality, stimulate
epidemiological research diminish the impact of birth defects and infant mortality; and (c) Identify
newborns and children with birth defects to intervene on a timely basis for treatment.
ii
TABLE OF CONTENTS
Page
1.0
Definitions
1
2.0
General Requirements
3
3.0
Reportable Defects
3
4.0
Validation of Data
8
5.0
Confidentiality
8
6.0
Violations/Sanctions
9
7.0
Exception and Severability
9
References
10
1
BIRTH DEFECTS REGISTRY
Section 1.0 Definitions
Wherever used in these rules and regulations the following terms shall be construed as follows:
1.1
"Act" refers to Chapter 23-13.3 of the General Laws of Rhode Island, as amended.
1.2
“Birth defects” include structural, chromosomal and metabolic abnormalities that affect the
development of organs and tissues of an infant or child and may be identified during pregnancy,
at birth or following birth before a child's fifth (5th) birthday. Possible causes or contributing
factors to birth defects include genetics, environmental pollutants, occupational hazards, dietary
factors, medications and personal behaviors.
1.3
"Clinical laboratory" means a facility for the biological, microbiological, serological, chemical,
immunohematological, hematological, radiobioassay, cytological, pathological, or other
examination of materials derived from the human body for the purpose of providing information for
the diagnosis, prevention, or treatment of any disease or impairment of, or the assessment of the
health of human beings, and licensed pursuant to Chapter 23-16.2 of the Rhode Island General
Laws, as amended.
1.4
“Council” means the Birth Defects Surveillance and Information Advisory Council.
1.5
“Department” means the Rhode Island Department of Health.
1.6
“Director” means the Director of the Department of Health.
1.7
"Health care facility" means any institutional health service provider, facility or institution,
place, building, agency, or portion thereof, whether a partnership or corporation, whether public
or private, whether organized for profit or not, used, operated, or engaged in providing health
care services, including but not limited to hospitals; nursing facilities; home nursing care
provider (which shall include skilled nursing services and may also include activities allowed as
a home care provider or as a nursing service agency); home care provider (which may include
services such as personal care or homemaker services); rehabilitation centers; kidney disease
treatment centers; health maintenance organizations; free-standing emergency care facilities,
and facilities providing surgical treatment to patients not requiring hospitalization (surgi-
centers); hospice care, and physician ambulatory surgery centers and podiatry ambulatory
surgery centers providing surgical treatment. The term "health care facility" also includes
organized ambulatory care facilities which are not part of a hospital but which are organized
and operated to provide health care services to outpatients such as central services facilities
serving more than one health care facility or health care provider, treatment centers, diagnostic
centers, outpatient clinics, infirmaries and health centers, school based health centers and
neighborhood health centers. The term "health care facility" shall not apply to organized
ambulatory care facilities owned and operated by professional service corporations as defined in
chapter 5.1 of title 7, as amended (the "Professional Service Corporation Law"), or to a private
practitioner's (physician, dentist, or other health care provider) office or group of the
practitioners' offices (whether owned and/or operated by an individual practitioner, alone or as a
member of a partnership, professional service corporation, organization, or association)
2
1.8
"Health care practitioner", as used herein, means a physician, physician assistant, certified
registered nurse practitioner, or midwife who provides primary care to children five (5) years of
age and younger.
1.9
“Primary care” means the basic or general health care furnished by a practitioner who is
responsible for the overall and ongoing coordination of a patient’s health care. In most
instances, primary care is focused on the point at which a patient first seeks assistance from the
health care system for non-emergency services.
1.10
"Registrar of the Rhode Island Birth Defects Registry " hereinafter referred to as Registrar,
means the person within the Department of Health designated by the Director to be responsible
for the operation of the Rhode Island Birth Defects Registry.
1.11
"Rhode Island Birth Defects Registry" means the central registry established within the
Department by the Director pursuant to the Act as the statewide registry for the collection and
recording of information on certain cases of birth defects for the purpose of describing the
occurrence of birth defects in the newborn and children up to five; detecting trends of
morbidity and mortality, stimulating epidemiological research, diminishing the impact of birth
defects and infant mortality; and identifying newborns and children with birth defects to
intervene on a timely basis for treatment.
3
Section 2.0 General Reporting Requirements
2.1
All new cases of reportable birth defects as listed in Section 3.1 diagnosed on and after July 1,
2005 in children 20 weeks gestation, 500 grams birth weight or both, to 60 months (five years)
in age shall be reportable by health care facilities, health care practitioners, and clinical
laboratories in accordance with the statutory and regulatory provisions herein. Reporting is
required for all children residing in RI.
2.2
The administrative officer, or his/her designee, of each health care facility, health care
practitioner practice setting, or clinical laboratory shall be responsible for establishing the
reporting procedures at that facility or practice setting. These procedures shall ensure that
every case from 20 weeks gestation to 60 months of age (5 years) that is diagnosed either in
the facility-operated inpatient or outpatient setting, or by a health care practitioner, shall be
reported to the Registry. If a child is transported to another facility, the health care facility,
health care practitioner practice setting, or clinical laboratory at which the reportable diagnosis
is first made shall be responsible for reporting. This reporting requirement also applies in
cases where the child dies before the age of five (5) or in cases where the birth defect is
corrected.
2.3
Within sixty (60) days from the date of diagnosis or confirmation of a new case of a reportable
birth defect as listed in section 3.1 herein, a health care facility, health care practitioner, or
clinical laboratory shall report in the manner specified by the Department all the information
and data requested. The originating health care facility, health care practitioner, or clinical
laboratory shall retain a duplicate copy of submitted information for a two (2) year period
from the date of submission.
2.6
Nothing under the provisions of the Acts and the rules and regulations herein shall be
construed to compel any individual to submit to medical or Department examination or
supervision.
Section 3.0
Reportable Defects
3.1
Health care facilities and clinical laboratories shall report those defects identified by the
following selected codes listed in the publication entitled, “International Classifications of
Diseases,
9th
Revision,
Clinical
Modification”
of
reference
1
herein:
4
146
146.9
147
147.9
155
155.0
181
183
183.0
186
186.0
186.9
189
189.0
190
190.5
194
194.0
195
195.0
195.2
195.3
299
299.0
369
369.0
369.00
369.01
369.02 369.03
369.04
369.05
369.06
369.07
369.08 369.1
369.10 369.11
369.12
369.13
369.14
369.15 369.16
369.17
369.18
369.2
369.20
369.21 369.22 369.23 369.24
369.25
369.3
369.4
369.6
369.60
369.61
369.62
369.63
369.64
369.65 369.66 369.67 369.68
369.69
369.7
369.70
369.71 369.72
369.73
369.74
369.75
369.76
369.8
369.9
389
389.0
389.00
389.01
389.02
389.03 389.04
389.08
389.1
389.10
389.11
389.12 389.14 389.18 389.2
389.7
389.8
389.9
740
740.0
740.1
740.2
741
741.0
741.9
742.0
742.1
742.2
742.3
742.4
742.5
742.51 742.53
742.59
742.8
742.9
743
743.0
743.00 743.03 743.06
743.1
743.10
743.11
743.12 743.2
743.20
743.21
743.22
743.3
743.30 743.31 743.32 743.33
743.34
743.35
743.36
743.37 743.39
743.4
743.41
743.42
743.43
743.44 743.45 743.46 743.47
743.48
743.49
743.5
743.51 743.52
743.53
743.54
743.55
743.56
743.57 743.58 743.59 743.6
743.61
743.62
743.63
743.64 743.65
743.66
743.69
743.8
743.9
744
744.0
744.00 744.01
744.02
744.03
744.04
744.05 744.09
744.1
744.2
744.21
744.22
744.23 744.24 744.29 744.3
744.4
744.41
744.42
744.43 744.46
744.47
744.49
744.5
744.8
744.81 744.82 744.83 744.84
744.89
744.9
745
745.0
745.1
745.10
745.11
745.12
745.19
745.2
745.3
745.4
745.5
745.6
745.60
745.61
745.69 745.7
745.8
745.9
746
746.0
746.00 746.01 746.02 746.09
746.1
746.2
746.3
746.4
746.5
746.6
746.7
746.8
746.81
746.82 746.83 746.84 746.85
746.86
746.87
746.89
746.9
747
747.0
747.1
747.10
747.11
747.20 747.21 747.22 747.29
747.3
747.4
747.40
747.41 747.42
747.49
747.5
747.6
747.60
747.61 747.62 747.63 747.64
747.69
747.8
747.81
747.82 747.83
747.89
747.9
748
748.0
748.1
748.2
748.3
748.4
748.5
748.6
748.60
748.61 748.69
748.8
748.9
749
749.0
749.00 749.01 749.02 749.03
749.04
749.1
749.10
749.11 749.12
749.13
749.14
749.2
749.20
749.21 749.22 749.23 749.24
749.25
750
750.0
750.1
750.10
750.11
750.12
750.13
750.15
750.16 750.19 750.2
750.21
750.22
750.23
750.24
750.25 750.26
750.27
750.29
750.3
750.4
750.5
750.6
750.7
750.8
750.9
751
751.0
751.1
751.2
751.3
751.4
751.5
751.6
751.60 751.61 751.62 751.69
751.7
751.8
751.9
752
752.0
752.1
752.10
752.11
752.19
752.2
752.3
752.4
752.40
752.41
752.42
752.49
752.5
752.51
752.52
752.6
752.61
752.62
752.63 752.64 752.65 752.69
752.7
752.8
752.9
753
753.0
753.1
753.10
753.11
753.12
753.13 753.14 753.15 753.16
753.17
753.19
753.2
753.20 753.21
753.22
753.23
753.29
753.3
753.4
753.5
753.6
753.7
753.8
753.9
754
754.0
754.1
754.2
754.3
754.30
754.31
754.32 754.33 754.35 754.4
754.40
754.41
754.42
754.43 754.44
754.5
754.50
754.51
754.52
754.53 754.59 754.6
754.60
754.61
5
754.61
754.62
754.69 754.7
754.70
754.71
754.79
754.8
754.81 754.82 754.89 755
755.0
755.00
755.01
755.02 755.1
755.10
755.11
755.12
755.13
755.14 755.2
755.20 755.21
755.22
755.23
755.24
755.25 755.26
755.27
755.28
755.29
755.3
755.30 755.31 755.32 755.33
755.34
755.35
755.36
755.37 755.38
755.39
755.4
755.5
755.50
755.51 755.52 755.53 755.54
755.55
755.56
755.57
755.58 755.59
755.6
755.60
755.61
755.62
755.63 755.64 755.65 755.66
755.67
755.69
755.8
755.9
756
756.0
756.1
756.10
756.11
756.12 756.13 756.14 756.15
756.16
756.17
756.19
756.2
756.3
756.4
756.5
756.50
756.51
756.52 756.53 756.54 756.55
756.56
756.59
756.6
756.7
756.70
756.71
756.79
756.8
756.81
756.82 756.83 756.89 756.9
757
757.0
757.1
757.2
757.3
757.31
757.32
757.33
757.39
757.4
757.5
757.6
757.8
757.9
758
758.0
758.1
758.2
758.3
758.4
758.5
758.6
758.7
758.8
758.81 758.89
758.9
759
759.0
759.1
759.2
759.3
759.4
759.5
759.6
759.7
759.8
759.81 759.82
759.83
759.89
759.9
760.71
3.2
Health care practitioners shall report those defects identified by the following selected codes listed in the publication entitled,
“International Classifications of Diseases, 9th Revision, Clinical Modification” of reference 1 herein:
Reportable Birth Defects by ICD-9-CM Codes
Selected Birth Defects
ICD-9-CM Codes
Central Nervous System
Anencephalus
740.0-740.1
Spina Bifida without anencephalus
741.0, 741.9 w/o 740.0-740.10
Hydrocephalus without spina bifida
742.3 w/o 741.0, 741.9
Encephalocele
742.0
Microcephalus
742.1
Eye
Anophthalmia/microphthalmia
743.0, 743.1
Congenital cataract
743.30-743.34
Aniridia
743.45
Ear
Anotia/microtia
744.01, 744.23
6
Selected Birth Defects
ICD-9-CM Codes
Cardiovascular
Common truncus
745.0
Transposition of Great Arteries
745.10-745.12, 745.19
Tetralogy of Fallot
745.2
Ventricular septal defect
745.4
Atrial septal defect
745.5
Endocardial cushion defect
745.60, 745.61, 745.69
Pulmonary valve atresia and stenosis
746.01-746.02
Tricuspid valve atresia and stenosis
746.1
Epstein's anomaly
746.2
Aortic valve stenosis
746.3
Hypoplastic left heart syndrome
746.7
Patent ductus arteriosus (include only if birth weight >2500
747.0
or note if unable to exclude <2500 grams infants
Coarctation of aorta
747.10
Orofacial
Cleft palate without cleft lip
749.0
Cleft lip with and without palate
749.1, 749.2
Choanal atresia
748.0
Gastrointestinal
Esophageal atresia/tracheioesophageal fistula
750.3
Pyloric stenosis
750.5
Rectal and large intestinal atresia/stenosis
751.2
Hirshsprung's disease (congenital megacolon)
751.3
Biliary atresia
751.61
Genitourinary
Hypospadias and epispadias
752.61, 752.62
Renal agenesis/hypoplasia
753.0
Bladder exstrophy
753.5
Obstructive genitourinary defect
753.2, 753.6
Musculoskeletal
Congenital hip dislocation
754.30-754.31, 754.35
Varus/valgus deformities of feet
754.5-754.7
Reduction deformity, upper limbs
755.20-755.29
Reduction deformity, lower limbs
755.30-755.39
Gastroschisis
756.79
Omphalocele
756.79
Diaphragmatic hernia
756.6
Chromosomal
Down Syndrome
758.0
Trisomy 13
758.1
Trisomy 18
758.2
Other
Fetal alcohol syndrome
760.71
Autism
299.0
7
3.3
Each health care facility, health care practitioner, or clinical laboratory shall submit data in
such a manner as to make uniform a system of periodic reporting and shall include no less
than the following detailed statistical data and information:
a)
patient's full name;
parent/guardian’s full name;
b)
street address, city or town, state and zip code at the time of diagnosis;
c)
date of birth;
d)
sex;
e)
ethnicity: Hispanic/Latino; Non-Hispanic/Latino;
f)
race: White; Black/African American; Asian/Pacific Islander; American
Indian/Native Alaskan; Other;
g)
primary diagnosis (text and ICD-9 codes);
h)
all applicable laboratory tests by which the primary diagnosis was determined;
i)
date, place and method of diagnosis;
j)
extent/nature of disease at diagnosis;
k)
medical record number;
l)
reporting facility;
m)
date of admission;
n)
source of information [type of medical record];
o)
primary physician;
p)
such other data as may be required by the Director.
3.4
Data and information on cases of birth defects shall be reported electronically or by US postal
mail unless reporting by another means has been approved in writing by the Director.
3.5
Such data and information shall be abstracted from medical charts and other sources of patient
information by personnel possessing, at a minimum, a basic working knowledge of medical
terminology, human anatomy, and physiology.
3.6
Such data and information shall be coded in a manner specified by the Director.
8
3.7
Such data and information shall be submitted with sufficient narrative substantiation to allow a
visual assessment of the accuracy of coded data and information.
Rights of Parents/Legal Guardians
3.8
The Department shall not require the reporting of information or entering of information into
the birth defects surveillance and information system regarding birth defects of a child whose
parents or legal guardian objects.
3.9
Parents and/or guardians shall have the right to prohibit the release of individually identifiable
information on their children from the birth defects surveillance and information system, and
shall have the right to prohibit being contacted by the birth defects surveillance program.
3.10
The Department shall provide timely notification to parents and/or guardians of their rights as
stated above.
3.11
There shall be written documentation of a parent/guardian’s prohibition of the release of their
child’s individually identifiable information from the birth defects surveillance and
information system. Written documentation shall include, but not be limited to: (1) a
parent/guardian’s signature maintained on file by the Department, health care facility, clinical
laboratory, or health care practitioner; or (2) a note regarding the prohibition of release of
information entered into the child’s medical record by the attending health care practitioner.
Section 4.0 Validation of Data
4.1
To ensure the accuracy of the data and the completeness of reporting, the Registrar is
authorized to review periodically patients' medical records and all other sources of patient
information, including but not limited to, disease/diagnosis indices, labor and delivery logs,
nursery log, newborn intensive care unit log, pediatric log, pediatric intensive care log,
stillborn log, pathology/autopsy log, ultrasound reports, or cyto-genetic reports as may be
necessary to substantiate the accuracy of the data and the completeness of reporting.
Section 5.0 Confidentiality
5.1
The birth defects surveillance and information system shall maintain comprehensive records
of all reports submitted pursuant to the Act and the rules and regulations herein. These reports
shall be confidential in accordance with Chapter 37.3 of Title 5 and subject to the restrictions
on release incorporated in that Chapter. Provided, however: (1) any such information shall be
available only for the purposes of the Act; and (2) any data requested for demographic or
epidemiological studies shall be provided in a format without individually identifiable
information.
9
Ownership and Publication of Data
5.2
All individual records and aggregate data including abstract report forms relating to the Rhode
Island Birth Defects Registry are the property of the Department. The use of records and
aggregate data by any person shall be subject to the approval of the Director. Furthermore,
requests for access to data compiled pursuant to the provisions of these regulations may be
granted only by the Director in accordance with applicable federal and state law, rules and
regulations regarding confidentiality and public access to data.
Section 6.0 Violations/Sanctions
6.1
Failure of any health care facility or clinical laboratory to comply with the provisions of the
Acts and the rules and regulations herein shall be subject to sanctions and referred to the
appropriate licensing and/or disciplinary body.
Section 7.0 Exception and Severability
7.1
Modification of any individual rule and regulation herein may be granted by the Director upon
motion of the Rhode Island Birth Defects Registry or upon request of a contracting agency
and/or organization in a specific case, if the Director finds that the modification to the rule is
not contrary to the purpose of the Rhode Island Birth Defects Registry nor contrary to the
public interest.
7.1.1 A request for modification of a rule shall require advance written request to the
Director and written approval by the Director.
Severability
7.2
If any provision of the rules and regulations herein or the application thereof to any facility or
provider or circumstances shall be held invalid, such invalidity shall not affect the provisions
or application of the regulations which can be given effect, and to this end the provisions of
the rules and regulations are declared to be severable.
10
REFERENCES
1.
International Classifications of Diseases, 9th Revision, Clinical Modification, 1989.
Thursday, November 03, 2005
birth defects-final-nov05.doc