Balkan Journal of Medical Genetics

Possible association of maternal haemorrhoid with congenital abnormalities in their children – a population-based case-control study
Ferenc Bánhidy, M.D.1, Nándor Ács, M.D.1, Erzsébet H. Puhó2, and Andrew E. Czeizel2*
*Corresponding Author: Andrew E. Czeizel, Foundation for the Community Control of Hereditary Diseases, 1026 Budapest, Törökvész lejtõ 32. Hungary; Tel: +36 1 3944 712, Fax: +36 1 3944 712; E-mail: czeizel@interware.hu
page: 25

MATERIALS AND METHODS

Study Subjects: Cases with CA were selected from the data set of the Hungarian Congenital Abnormality Registry (HCAR), 1980-1996 [6] for the HCCSCA. Notification of cases to the HCAR is compulsory for physicians from the birth until the end of first postnatal year. Most cases were reported by obstetricians and paediatricians since practically all deliveries took place in inpatient obstetric clinics and were attended to by obstetricians. Paediatricians worked in the neonatal units of inpatient obstetric clinics, or in various inpatient and outpatient paediatric clinics. Autopsy was mandatory for all infant deaths and was suggested for stillborn fetuses, thus autopsy was done in nearly 100% of infant deaths and in about 80% of stillborn fetuses (i.e. fetal death after 28th gestational week) during the study period. Pathologists sent a copy of the autopsy report to the HCAR if defects were identified in stillbirths and infant deaths. Since 1984 fetal defects diagnosed in prenatal diagnostic centres with or without termination of pregnancy have also been included into the HCAR. CAs were differentiated into three groups: (i) lethal, if defects cause stillbirth or infant death or pregnancies were terminated due to fetal defect in more than 50% of cases; (ii) severe, if without medical intervention CAs cause handicap or death; and (iii) mild, these CAs require medical intervention but life expectancy was good. The first two groups together constituted major CAs. **Two main categories of CAs were also differentiated: isolated (only one organ is affected) and multiple (if two or more CAs were present in the same person in at least two different organ systems). The total (birth + fetal) prevalence of cases with CA diagnosed from the second trimester of pregnancy through the age of one year was 35 per 1000 informative offspring (live-born infants, stillborn fetuses and selectively -terminated malformed fetuses) in the HCAR, 1980-1996, although 65.3 per 1000 was expected [7]. However, about 90% of major CAs were recorded in the HCAR during the 17 years of the study period [6]. Three exclusion criteria were used for the selection of cases with CAs from the HCAR for the data set of the HCCSCA: (i) cases reported after three months of birth or elective pregnancy termination (23% of cases which were mainly mild CAs), (ii) three mild CAs (congenital dysplasia of hip and inguinal hernia, large haemangioma), and (iii) CA syndromes caused by major mutant genes or chromosomal aberrations with preconceptional origin. Controls were newborns without CA and were derived from the National Birth Registry of the Central Statistical Office for the HCCSCA. Controls were defined as newborn infants without CA. Two controls were matched to every case according to sex, birth week in the same year when cases were born, and district of parents' residence. The case group consisted of 22,843 malformed newborns or fetuses (“informative offspring”). The total births numbered 2,146,574 in Hungary during the study period, thus the control group containing 38,151 newborns represented 1.8% of all these births.

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