History and Funding
The Mainz Model was launched in 1990. The aim of this screening project was to determine prevalence and etiological causes of birth defects. The registry and its associated research are funded by the Ministry of Health of the Federal Republic of Germany from 1990-1995 and by the Ministry of Labor, Social Affairs and Health of Rhineland-Palatine from 1990 until now.
The Registry joined EUROCAT in 1992.
Population Coverage
The registry covers births in three maternity hospitals which serve the Mainz district and area of Rheinhesse (370,000 inhabitants; population coverage 94.7% in 2008 according to federal statistics office) of Rhineland-Palatinate in SW Germany with approximately 3,300 births per year. Births to non- residents of the area are excluded (population-based III).
Sources of Ascertainment
The registry employs three pediatricians specially trained in clinical genetics, neonatalology and pediatric ultrasonography who examine each baby born in the participating hospitals within the first week of life.
Routine sonography of kidneys is performed. For particular indications (e.g. microcephaly or heart murmur, history of hip dysplasia) further ultrasound examinations and other examinations are made. Both major and minor anomalies are recorded according to a standard examination protocol, but only major anomalies are transmitted to the EUROCAT Central Registry, according to its guidelines.
In addition information on stillbirths, spontaneous abortions and TOPFA are obtained from pathology reports. Information on TOPFA is also obtained from the center checking the final prenatal diagnosis. Cases of Microcephaly are not transmitted to EUROCAT Central Registry. Cases of Hydronephrosis are available in more detailed diagnosis. Karyotyping in all suspicious and prenatally diagnosed cases in the monitored area is initiated by the registry. All lab results are available.
All cases with prenatally detected signs or relevant medical history, as well as all suspicious children (clinics, persisting cardiac murmur > three days), are referred to the cardiologic department and provide diagnosis on request.
Maximum Age at Diagnosis
First week of life.
Terminations of Pregnancy for Fetal Anomaly (TOPFA)
TOPFA are registered as they are performed in one of the hospitals and thus included in the data. It is relatively common for prenatal diagnosis of congenital anomalies not to result in a decision to terminate the pregnancy. In 60% of terminations an voluntary, not legally registered, autopsy examination follows, but the numbers decrease rapidly.
Stillbirth and Early Fetal Deaths
The official stillbirth definition in Germany is a baby born with no signs of life weighing ≥ 500g. The registry records information on all fetal deaths (including both stillbirths and spontaneous abortions) from 16 weeks gestation. Autopsy rates were as follows in 1995: in stillbirths 70%, in induced abortions 70%, in early neonatal deaths (0-7 days) 55%, in later deaths 1 week to 1 year - not applicable and in deaths with congenital anomaly – not known.
Exposure Data Availability
Exposure information on the EUROCAT form is obtained for both malformed and non-malformed babies (all population based birth). Sources: the pregnancy pass filled out throughout pregnancy by the obstetrician and his staff and data collected by midwives 6-8 weeks before birth. Additional exposure data is held which is not transmitted to EUROCAT. Drugs are ATC coded.
Denominators and Controls Information
There is comparable information on all non-malformed babies in the population from the same process of pediatric examination and information gathering. The number of births is taken from this database. Information on the total number of fetal deaths from 16 weeks is available and included in “stillbirth” statistics.
Registry Description References
Queisser-Luft A, Stolz G, Wiesel A, et al (2002) Malformations in newborn: results based on 40,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998). Arch Gyn Obstet 266:163-7.
Ethics & Consent
Informed consent to use all routinely acquired data for scientific research is part of the admission contract between the patient and the hospital and thus given (opt in). The registry holds an approval from the ethics committee and the data security office of Rhineland Palatinate since its beginning. The approval does not have to be checked or renewed periodically. The registry includes only pseudonymous data.
Address for Further Information
PD Dr Annette Queisser-Wahrendorf
Dr Awi Wiesel, MSc
Birth Registry Mainz Model, Children’s Hospital
University Medical Center of the Johannes Gutenberg University Mainz,
Langenbeckstr.1,
55131 Mainz
Germany
Tel: +49 6131 172773
Fax: +49 6131 172773
Email: Annette.queisser@unimedizin-mainz.de
Awi.wiesel@unimedizin-mainz.de