PRINTER'S NO. 3068
No. 2283 Session of 1990
INTRODUCED BY PETRARCA, RICHARDSON, MARKOSEK, GEIST, VAN HORNE,
STUBAN, OLASZ, DALEY, J. L. WRIGHT, McVERRY, TIGUE, ARGALL,
B. SMITH, FOX, GRUPPO, TRELLO, NAHILL, NOYE, PISTELLA,
HERMAN, ITKIN, SERAFINI, VEON, KUKOVICH, ROBINSON,
DIETTERICK, GIGLIOTTI AND B. D. CLARK, FEBRUARY 7, 1990
REFERRED TO COMMITTEE ON YOUTH AND AGING, FEBRUARY 7, 1990
AN ACT
1 Providing for a birth defects registry.
2 The General Assembly of the Commonwealth of Pennsylvania
3 hereby enacts as follows:
4 Section 1. Short title.
5 This act shall be known and may be cited as the Birth Defects
6 Registry Act.
7 Section 2. Definitions.
8 The following words and phrases when used in this act shall
9 have the meanings given to them in this section unless the
10 context clearly indicates otherwise:
11 "Birth defect." An abnormality of the body's structure or
12 inherent function which is present at birth, whether such
13 abnormality is manifest at the time of delivery or becomes
14 apparent later in life.
15 "Department." The Department of Health of the Commonwealth.
16 "Infant." A child from birth to one year of age.
1 Section 3. Reporting requirements.
2 (a) Birth or becoming resident.--Any infant who is born to a
3 resident of Pennsylvania or who becomes a resident of
4 Pennsylvania before one year of age, and who shows evidence of a
5 birth defect either at birth or any time during the first year
6 of life, shall be reported to the department.
7 (b) Reportable defects.--For reporting purposes the
8 conditions listed as congenital anomalies (Diagnostic Codes
9 740.00 through 759.90) in the most recent revision of the
10 International Classification of Diseases, Clinical Modification,
11 shall constitute reportable defects. In addition, there are
12 several other conditions considered to be defects that are not
13 listed under diagnostic codes 740.00 through 759.90 which
14 described Congenital Anomalies.
15 (c) Specific defects.--The following birth defects are also
16 required to be reported to the department:
17 (1) Congenital anomalies including anencephalus and
18 similar anomalies, such as craniorachischisis and
19 inencephaly.
20 (2) Spina bifida, with and without mention of
21 hydrocephalus.
22 (3) Other congenital anomalies of the nervous system,
23 such as: encephalocele; microcephalus; reduction deformities
24 of the brain; congenital hydrocephalus; congenital cerebral
25 palsies, congenital muscular dystrophies; and other
26 anomalies, congenital diseases, lesions and any other
27 deformities of the brain, nervous system or spinal cord.
28 (4) Congenital anomalies of the eye, such as:
29 anophthalmos; microphthalmos; buphthalmos; congenital
30 cataract and lens anomalies; coloboma and other anomalies of
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1 the anterior or posterior segment; congenital anomalies of
2 eyelids, lacrimal system and orbit; and any other anomalies
3 of the eye.
4 (5) Congenital anomalies of the ear, face and neck, such
5 as: anomalies of the ear causing impairment of hearing;
6 accessory auricle and any other anomalies of the ear;
7 branchial cleft cyst or fistula; preauricular sinus; webbing
8 of the neck; and any other anomalies of face and neck.
9 (6) Bulbus cordis anomalies and anomalies of cardiac
10 septal closure such as: common truncus; transposition of
11 great vessels; Tetralogy of Fallot; Common ventricle;
12 ventricular septal defect; ostium secundum type atrial septal
13 defect; endocardial cushion defects; cor biloculare; and any
14 other defects of septal closure.
15 (7) Other congenital anomalies of the heart, such as:
16 anomalies of pulmonary valve; congenital tricuspid atresia
17 and stenosis; Ebstein's anomaly; congenital stenosis of
18 aortic valve; congenital mitral stenosis of aortic valve;
19 congenital mitral stenosis or insufficiency; hypoplastic left
20 heart syndrome; and any other structural anomalies of the
21 heart.
22 (8) Other congenital anomalies of the circulatory
23 system, such as: patent ductus arteriosus; coarctation of
24 aorta and other anomalies of the aorta, aortic arch or
25 atresia and stenosis of the aorta; anomalies of pulmonary
26 artery; anomalies of great veins, absence or hypoplasia of
27 umbilical artery; other anomalies of peripheral vascular
28 system; or other unspecified anomalies of circulatory system.
29 (9) Congenital anomalies of the respiratory system, such
30 as: choanal atresia; other anomalies of nose; webbing of
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1 larynx; other anomalies of larynx, trachea and bronchus;
2 congenital cyctic lung; agenesis, hypoplasia and dysplasia of
3 lung; other anomalies of the lung; and other unspecified
4 anomalies of respiratory system.
5 (10) Cleft palate and cleft lip.
6 (11) Other congenital anomalies of upper alimentary
7 tract, such as: tongue tie and other anomalies of the tongue;
8 anomalies of mouth and pharynx; tracheoesophageal fistula,
9 esophageal atresia, and stenosis and other anomalies of
10 esophagus; congenital hypertrophic pyloric stenosis,
11 congenital hiatus hernia; other anomalies of stomach; and
12 other unspecified anomalies of upper alimentary tract.
13 (12) Other congenital anomalies of digestive system,
14 such as: Meckel's diverticulum; atresia and stenosis of small
15 intestine, large intestine, rectum and anal canal;
16 Hirchsprung's disease and other congenital functional
17 disorders of colon; anomalies of intestinal fixation; other
18 anomalies of intestine, gall bladder, bile ducts, liver and
19 pancreas; disorders of tooth formation, development and
20 eruption, dentofacial anomalies, and other unspecified
21 anomalies of the digestive system.
22 (13) Congenital anomalies of genital organs, such as:
23 anomalies of ovaries, fallopian tubes and broad ligaments;
24 doubling of uterus and other anomalies of uterus; anomalies
25 of cervix, vagina and external female genitalia; undescended
26 testicle; hypospadas and congenital chordee; indeterminate
27 sex and pseudohermaphroditism; and other unspecified
28 anomalies of the genital system.
29 (14) Congenital anomalies of urinary system, such as:
30 renal agenesis and dysgenesis; cystic kidney disease;
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1 obstructive defects of renal pelvis and ureter; other
2 anomalies of kidney and ureter; exstrophy of urinary bladder;
3 atresia and stenosis of urethra and bladder neck; anomalies
4 of urachus; other anomalies of bladder and urethra; and other
5 unspecified anomalies of the urinary system.
6 (15) Certain congenital musculoskeletal deformities,
7 such as: of skull, face and jaw; of sternocleidomastoid
8 muscle; of spine; congenital dislocation of hip; congenital
9 genu recurvatum and bowing of long bones of leg; varus and
10 valgus deformities of feet; other congenital deformities of
11 feet such as talipes cavus, calcaneus or equinus; and other
12 specified nonteratogenic anomalies such as pectus excavatum,
13 pectus carinatum; club hand; congenital deformity of chest
14 wall; dislocation of elbow; generalized flexion contractures
15 of lower limbs; spade-like hand.
16 (16) Other congenital anomalies of limbs, such as:
17 polydactyly; syndactyly; reduction deformities of upper limb;
18 reduction deformities of lower limb; other anomalies of upper
19 limb, including shoulder girdle; and other anomalies of lower
20 limb, including pelvic girdle.
21 (17) Other congenital musculoskeletal anomalies, such
22 as: anomalies of skull and facial bones; anomalies of spine;
23 cervical rib; other anomalies of ribs and sternum;
24 chondrodystrophy; osteodystrophies; anomalies of diaphragm;
25 anomalies of abdominal wall such as prune belly syndrome;
26 other specified anomalies of muscle, tendon, fascia and
27 connective tissue; and other unspecified anomalies of
28 musculoskeletal system.
29 (18) Congenital anomalies of the integument, significant
30 anomalies of skin, subcutaneous tissue, hair, nails and
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1 breast, such as birthmarks or nevi measuring four inches or
2 greater in size, multiple skin tags (more than five in
3 number).
4 (19) Chromosomal anomalies, such as: Down's syndrome;
5 Patau's syndrome; Edwards' syndrome; autosomal deleton
6 syndromes and other conditions due to autosomal anomalies;
7 gonadal dysgenesis; Klinefelter's syndrome; and other
8 conditions due to sex chromosome anomalies or anomalies of
9 unspecified chromosome.
10 (20) Other and unspecified congenital anomalies, such
11 as: anomalies of spleen, situs inversus; conjoined twins;
12 tuberous sclerosis; other hamartoes; multiple congenital
13 anomalies; and other congenital anomalies including
14 congenital malformation syndromes affecting multiple organ
15 systems including Laurence-Moon-Biedl syndrome, Marfan's
16 syndrome and Prader-Willi syndrome.
17 (d) Other conditions.--Other conditions under this section
18 include:
19 (1) Certain endocrine, nutritional and metabolic
20 diseases and immunity disorders, includes congenital
21 hypothyroidism; idiopatphic hypoglycemia; congenital
22 hypoparathyroidism; hypopituitarism; diencephalic syndrome;
23 adrenogenital syndrome; testicular feminization syndrome;
24 phenylketonuria; albinism, maple syrup urine disease;
25 argininosuccinic aciduria; hyperglybcinemia; glycogen storage
26 diseases; cystic fibrosis; alpha-1 antitrypsin deficiency;
27 and DiGeorge's syndrome; congenital deficiencies of humoral
28 immunity; cell-mandated immunity; combined immunity
29 deficiencies; and other specified and unspecified disorders
30 of the immune mechanisms.
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1 (2) Certain diseases of the blood and blood forming
2 organs, includes hemolytic diseases of the new born; G-6PD
3 deficiency; demophilia (all types); and Von Willebrand's
4 disease.
5 (3) Certain diseases of the nervous system and sense
6 organs, includes hereditary and degenerative diseases of the
7 central nervous system such as Tay Sachs disease and familial
8 degenerative CNS diseases; Werdnig-Hoffmann disease; cerebral
9 palsy; Moebius syndrome; hereditary retinal dystrophies, and
10 chorioretinitis.
11 (4) Certain diseases of the circulatory system, includes
12 endocardial fibroelastosis; congenital Wolfe-Parkinson-White
13 syndrome; cardiac arrhythmias, NEC; and Budd-Chiari syndrome.
14 (5) Certain diseases of the digestive system, includes
15 abnormalities of jaw size, micrognathia and macrognathia;
16 inguinal hernia with gangrene, inguinal hernia with
17 obstruction with no mention of gangrene, inguinal hernia
18 without obstruction with no mention of gangrene, umbilical
19 hernia, epigastric hernia.
20 (6) Certain complications of pregnancy, childbirth and
21 the puerperium, includes amniotic bands, amniotic cyst.
22 (7) Certain diseases of the skin and subcutaneous
23 tissue, includes pilonidal sinus or dimple (sacrodermal).
24 (8) Certain conditions originating in the perinatal
25 period, includes fetal alcohol syndrome, probable fetal
26 alcohol syndrome (includes facies), fetal hydantoin
27 (dilantin) syndrome, hyaline membrane disease,
28 bronchopulmonary dysplasia, neonatal hepatitis, meconium
29 ileus, meconium peritonitic, congenital ascites, congenital
30 hydrocele, and certain congenital infections including
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1 congenital syphilis, congenital rubella, unspecified TORCH
2 infection, cytomegalovirus, toxoplasmosis, herpes simplex
3 including encephalitis, meningoencephalitis.
4 (9) Neoplasms, including lipomas of skin and
5 subcutaneous tissue of face and other skin and subcutaneous
6 tissue, intrathoracic and intra-abdominal organs, spermatic
7 cord, other specified sites, lumbar, sacral, paraspinal, and
8 other unspecified sites; benign neoplasms of skin includes
9 blue nevus, pigmented nevus, papilloma, dermatofibrome,
10 syringoadenoma, dermoid cyst, hydrocystoma, syringma; other
11 benign neoplasms of lip, eyelid, ear and external auditory
12 canal, skin and other and unspecified parts of face, scalp
13 and skin of neck, skin of trunk, skin of upper limb, lower
14 limb, other specified and unspecified sites including hairy
15 naevus; hemangioma (include if greater than 4 inches
16 diameter, if multiple hemangiomas or if cavernous hemangioma)
17 of skin and subcutaneous tissue, intracrantal intra-abdominal
18 cystic hygroma and lymphangioma of any site, hemangioma of
19 other and unspecified site; certain malignant neoplasms
20 including Wilm's tumor, retinoblastoma, other congenital
21 neoplasms including neuroblastoma, medulloblastoma, teratoma,
22 fibrosarcoma, histiocytosis (malignant), neurofibromatosis.
23 (e) Death after live birth.--Any live born infant with a
24 birth defect and who subsequently expires shall be reported.
25 Such reports shall indicate that the infant has expired.
26 (f) Reporting procedures.--The administrative officer of
27 every health care facility shall be responsible for establishing
28 the reporting procedures for that facility. The reporting
29 procedures must insure that every infant who is initially
30 diagnosed as having a birth defect shall be reported to the
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1 department. If an infant is transported from one health care
2 facility to another, the health care facilities at which the
3 diagnosis is made shall be responsible for reporting.
4 (g) Persons to report.--Every physician, dentist and
5 certified nurse midwife shall report to the department, on
6 initial diagnosis, each infant diagnosed as having a birth
7 defect not known to be previously reported.
8 (h) Laboratory reports.--The director of every clinical
9 laboratory shall report to the department results of postmortem
10 examination from any infant indicating the existence of a birth
11 defect, not known to be previously reported.
12 (i) Forms.--The information to be reported shall be provided
13 upon forms supplied by the department.
14 (j) Department.--The reports made pursuant to rules under
15 this act are to be used only by the department and other
16 agencies that may be designated by the department and shall not
17 otherwise be divulged or made public so as to disclose the
18 identity of any person; and such reports shall not be included
19 under materials available to public inspection.
20 (k) Time table.--All registrations shall be made within 30
21 days of the date when the birth defect was diagnosed.
22 (l) Information to parent.--When a live infant is
23 registered, the department shall inform the parent or legal
24 guardian of the registration.
25 (m) Access of information.--Every health care facility and
26 independent clinical laboratory shall allow access to, or
27 provide necessary information on infants with birth defects and
28 other patients specified by characteristics for research studies
29 related to birth defects conducted by the department and which
30 have been approved by the department after appropriate review
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1 for assuring protection of human subjects. This shall include
2 patients who came under the care of the health care facility
3 prior to the effective date of the regulations.
4 Section 4. Effective date.
5 This act shall take effect in 60 days.
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