OBJECTIVE--To estimate the proportion of preventable congenital abnormalities in Hungary. DESIGN--Analysis of available Hungarian data-bases and of the effectiveness of primary, secondary, and tertiary preventive methods. SETTING--Databases of ad hoc epidemiological studies and of the Hungarian congenital abnormality registry. MAIN OUTCOME MEASURES--Prevalence at birth and prevalence after prevention in 73 congenital abnormality types or groups. RESULTS--Preventive methods are available for 51 (70%) of the 73 congenital abnormality types or groups evaluated. The birth prevalence of all congenital abnormalities could be reduced from 65 to 26 per 1000; thus 39 per 1000 (60%) are preventable. Without congenital dislocation of the hip, which is unusually common in Hungary, the preventable proportion of congenital abnormalities is 52%. CONCLUSION--Many congenital abnormalities can be prevented, but as they do not represent a single pathological category there is no single strategy for their prevention.

https://www.bmj.com/content/bmj/306/6876/499.full.pdf

What proportion of congenital abnormalities can be prevented

Metastatic Trophoblastic Disease Following Partial Hydatidiform Mole: Case Report and Literature Review

Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms.

Female polysomy-X and systemic lupus erythematosus.

Amplicons – large, nearly identical repeats in direct or inverted orientation – are abundant in the male-specific region of the human Y chromosome (MSY) and provide targets for intrachromosomal non-allelic homologous recombination (NAHR). Thus far, NAHR events resulting in deletions, duplications, inversions, or isodicentric chromosomes have been reported only for amplicon pairs located exclusively on the short arm (Yp) or the long arm (Yq). Here we report our finding of four men with Y chromosomes that evidently formed by intrachromosomal NAHR between inverted repeat pairs comprising one amplicon on Yp and one amplicon on Yq. In two men with spermatogenic failure, sister-chromatid crossing-over resulted in pseudoisoYp chromosome formation and loss of distal Yq. In two men with normal spermatogenesis, intrachromatid crossing-over generated pericentric inversions. These findings highlight the recombinogenic nature of the MSY, as intrachromosomal NAHR occurs for nearly all Y-chromosome amplicon pairs, even those located on opposing chromosome arms.

Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms

Cytogenetic investigation of a healthy couple with 4 spontaneous abortions revealed a pericentric inversion of the Y chromosome. The same abnormality was found in three other members of the family. All of them have normal children without fetal wastage. This finding suggests that the pericentric inversion of the Y chromosome affects neither the phenotype nor reproductive performance.

Familial pericentric inversion of the Y chromosome

Cytogenetic studies were carried out on 118 couples with recurrent spontaneous abortions. Four major chromosomal abnormalities were found including two 13/14 Robertsonian translocations, one t(7;12) and one t(1;10) reciprocal translocation. The incidence of chromosomal abnormalities in this study was 3.39%, which is lower than the mean value of the published data. The clinical significance of balanced translocations in recurrent reproductive loss is discussed.

Chromosome abnormalities in 118 couples with recurrent spontaneous abortions

[Recessive-inherited hydrocephalus (prenatal diagnostic and therapeutic considerations)].

The authors have investigated the possibilities of obtaining chorionic villi from legal pregnancy termination patients between the 7th and 11th week and the method of direct chromosome preparation from the villi as well. According to their investigations under continuous "real time" ultrasound guidance and with the immediate microscopic checking of the obtained material it is possible to receive chorionic villi of necessary quantity in nearly 100% of the cases, and after 2 or 3 hours the evaluation in a great deal of mitosis of good quality can be carried out. The method may revolutionize the prenatal (fetal) diagnosis, but its routine application may not be proposed until the rate of fetal risk is exactly known.

[Aspiration of chorionic tissue: diagnostic potential in prenatal (fetal) diagnosis].

The authors report on a patient with partial mole, multiple malformations and lung metastases requiring chemotherapy. This case shows that the partial hydatidiform mole must therefore be carefully monitored by serial beta-hCG titres following evacuation to ensure the achievement of complete sustained remission.

Partial mole with lung metastases and multiple abnormalities of the fetus

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