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.