Register of Congenital Malformations
Sandbox directory
The data is available in the following Sandbox directory:
/finngen/library-red/finngen_R[RELEASE]/malformation_register_1.0
The data was released to the Sandbox first time in release 9. Please refer to the readme file in the sandbox directory for full details of the available data.
Note, this data also available in Atlas and OMOP common data model.
Description
The Register of Congenital malformations contains national-level data on:
congenital chromosomal and structural anomalies
congenital hypothyroidism
teratomas, detected or suspected in stillborn and liveborn infants and foetuses
Around 5,000 new cases with congenital anomalies are reported annually, of which more than 2,000 are major congenital anomalies.
The registry was established on December 29, 1962. The collection of data began on January 1, 1963. Initially, the data was collected using malformation reports and stored in a paper archive. Electronic data collection started gradually from 1980 onwards. Between 1987 and 1992, data was supplemented from other registers and is sufficiently comprehensive for research purposes. Since 1993, the data is comprehensive.
FinnGen contains data from the Register of Congenital malformations since the beginning of the electronic data collection in 1980.
Malformation data is collected, as a rule, until the end of the first year of a child’s life, but, if necessary, even after that. The data is verified using other registers (e.g. birth registry, hilmo registry, registry of induced abortions, Valvira and cause of death registry), as well as the units that took care of the child.
Because the data is verified, its release is delayed by approximately two years. For example, the end of follow-up in FinnGen DF9 was the end of 2019.
Variables
Mother variables | |
FINNGENID | FINNGENID mother |
PREGNANCY_ID | ID that specifies the pregnancy |
GESTATIONAL_AGE | Duration of pregnancy at birth/ abortion/miscarriage |
ETIOLOGY | Etiology of the malformations (diagnosed or suspected). Codes in separate file ETIOLOGY.txt |
INCL_EXCL | Accepted/rejected to be monitored as a malformation/anomaly in er (+ the reason) |
M_AGE | Mother's/woman's age, years |
MANNER_OF_BIRTH | Type of birth (born alive or dead, termination of pregnancy, miscarriage etc, menu of 13 options). Codes in separate file MANNERBIRTH.txt |
NUMBER_OF_FETUSES | Number of foetuses/children |
PRENATAL_INDICATION | Original reason for foetal examinations (screening, maternal age, an irregular course of the pregnancy, etc.) |
PRENATAL_TIME_SUSP_DETEC | Detection/suspection time of anomalies during pregnancy (pregnancy week / trimester) |
PREV_BIRTHS | Previous born infants (born alive or dead) (number) |
PREV_PREGNANCIES | Previous pregnancies (number) |
PREV_SELECTIVE_TERMINATIONS PREV_SPONTANEUS_ABORTIONS | Previous foetal terminations of pregnancy (number) |
PREV_STILLBIRTHS | Previous spontaneous abortions (number) |
SUSPECTED_DETECTED | Previous stillbirths (number) |
DISEASE | Time of suspection (since confirmed) or diagnosis of malformation: prenatal, perinatal, postnatal, no information etc. Mother's/woman's diseases, ICD-10 code |
DIS_TIME | Mother's/woman's diseases, week of gestation |
GESTATIONAL_AGE_DETECTION | Duration of pregnancy at the time of malformation detection, weeks + days |
EXP_TIME | Mother's/woman's other exposures, during week of gestation |
EXPOSURE | Mother's/woman's other exposures (smoking, alcohol, infertility treatment, etc.) |
MED_TIME | Mother's/woman's medication/vaccination, week of gestation |
ATCCODE | Mother's/woman's medication, ATC-code |
PREPARATION | Mother's/woman's medication/vaccination, generic name |
APPROX_BIRTH_DATE | Approx Birth date of mother (random +/- 1-15 days added to mother's birth date) |
Child variables | |
FINNGENID | FINNGENID child |
DNATYPE | Test results from DNA testing (text). |
ETIOLOGY | Etiology of the malformation/s (diagnosed or suspected). Codes in separate file ETIOLOGY.txt. |
INCL_EXCL | Accepted/rejected to be monitored as a malformation/anomaly in er (+ the reason) |
KARYOTYPE | Karyotype- results from chromosome analysis |
NUMBER_OF_FETUSES | Number of foetuses / children |
PRENATAL INDICATION | Original reason for foetal examinations (screening, maternal age, an irregular course of the pregnancy, etc.) |
PRENATAL_TIME_SUSP_DETEC | Detection/suspection time of anomalies during pregnancy (pregnancy week / trimester) |
SEX | Child's sex, code |
WEIGHT | Infant's/foetus' weight at birth |
YEAR_OF_BIRTH | Year of event (birth, termination etc.) |
MAJOR_MINOR | Malformation diagnosis significant/insignificant |
DIAGNOSE | Verbal malformation diagnosis |
ICD9 | Malformation diagnosis with atlanta ICD9-codes |
ICD10 | Malformation diagnosis with ICD-10 codes |
PRENATAL | Diagnostic method of the prenatally noticed discovery. Codes in separate file TEST.txt |
ANALYSIS | Genetic laboratory examination or -analysis performed. Codes in separate file ANALYSIS.txt |
APPROX_BIRTH_DATE | Approx Birth date of child (random +/- 1-15 days added to each child's birth date) |
More information about the data is available from the Register of Congenital malformations (THL), Aineistokatalogi, and the Statistical Report of Congenital malformations (2019).
The congenital malformation register was presented in the User Meeting 30th Nov 2021 and the video from that meeting is in the Members Area.
Last updated