PubMed · 577955
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J H Sorenson. 1977-08-15. Amniocentesis.. https://pubmed.ncbi.nlm.nih.gov/577955/
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This study reports changes in the prevalence and outcome of Down's syndrome pregnancies within a 15-year period in a defined geographical population in the north of England. Cases of Down's syndrome in births and terminations of pregnancy occurring between 1985 and 1999, were identified from the Northern Congenital Abnormality Survey. The total prevalence for the 15 years was 15.2 per 10 000 births and terminations of pregnancy [95% CI 14.2, 16.2]. Total prevalence showed an upward trend over time, due largely to increasing maternal age. Sixty-seven per cent of cases resulted in live births, and the overall live birth prevalence was 10.3 per 10 000 live births [95% CI 9.4, 11.1]. The proportion of cases resulting in termination of pregnancy rose from 15% in 1985-89 to 38% in 1995-99; the rate of increase was greater in women aged < 35 years. Forty-five per cent of live born infants had an additional anomaly recorded. Survival at 1 year was 78% for those with an additional anomaly recorded, and 96% for those without. There was a non-significant trend towards improved survival in all infants with Down's syndrome, from 87% in 1985-94 to 92% in 1995-99. Despite increasing termination of Down's syndrome pregnancies resulting from the greater availability of antenatal screening and diagnosis, there has been no significant reduction in live birth prevalence. These infants have high rates of co-existing structural anomalies and are at high risk of death in the first year of life. There is a continuing need to address the reasons for poor survival for Down's syndrome infants, and to plan for their complex health and social care needs. These findings are useful for parents deciding on prenatal screening, as well as for clinicians and health service managers.
We report a fetal autopsy case that was diagnosed with a mole coexistent with a live fetus at an early gestation and finally showed coexisting true hermaphroditism of 46,XX/46,XY mosaicism and partial hydatidiform mole, developing metastatic gestational trophoblastic tumors in the lungs of the mother. A 23-year-old Japanese female had a mole coexistent with a fetus and showed a high chorionic gonadotropin titer in urine and serum at 10 weeks of gestation. The fetus was interrupted for gestational toxicosis and genital bleeding at 20 weeks of gestation. A chromosome analysis demonstrated 46,XX and 46,XY mosaicism in both umbilical cord blood and mole samples. Intrapelvic organs contained a testis in the one gonad, and an ovotestis in the other gonad microscopically. The testis had seminiferous tubules containing primitive germ cells, immature Sertoli cells, and cytomegalic Leydig cells. The ovary in the ovotestis had numerous primitive germ cells and a few stromal cells. Cortical cytomegaly and medullary neuroblastoma in situ were seen in the adrenals. The placenta showed focal villous hydrops and focal trophoblast hyperplasia. The patient presented multiple metastatic pulmonary tumors at 1 month after the interruption, and was treated with chemotherapy for the clinical diagnosis of gestational trophoblastic tumor metastases. She responded well and is alive without any symptoms.
BACKGROUND: Prenatal screening and the promotion of folic acid intake could affect the incidence of neural tube defects (NTDs). We examined trends in the total NTD incidence, as detected in live births, stillbirths and therapeutic abortions, from 1986 to 1999 in Ontario. METHODS: To capture cases of NTDs we used data from the Canadian Congenital Anomalies Surveillance System and hospital data on therapeutic abortions. We calculated the total incidence of NTDs by combining the numbers of NTDs occurring in live births, stillbirths and therapeutic abortions. RESULTS: The total NTD incidence rate increased from 11.7 per 10,000 pregnancies in 1986 to 16.2 per 10,000 in 1995, and it subsequently decreased to 8.6 per 10,000 by 1999. The NTD birth rate (live births and stillbirths) decreased from 10.6 per 10,000 births in 1986 to 5.3 per 10,000 in 1999. The rate of therapeutic abortions with an NTD or hydrocephalus rose from 17.5 per 10,000 abortions in 1986 to 50.7 per 10,000 in 1995 and fell to 28.7 per 10,000 abortions in 1999. INTERPRETATION: The total NTD incidence rate increased from 1986 to 1995, probably because of increased prenatal screening and better detection of NTDs. The decline from 1995 to 1999 may have been due to increased folic acid intake among women at the time of conception.