PubMed · 12077396
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
Jon Cohen. 2002-06-21. Sorting out chromosome errors.. https://doi.org/10.1126/science.296.5576.2164
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
OBJECTIVE: To determine the chance of at least one live birth from one round of in-vitro fertilisation (IVF) treatment and the effect of the woman's age on that likelihood. DESIGN: Retrospective analysis of outcomes from IVF treatment that did not involve donated gametes, but which included embryos cryopreserved in the retrieval cycle. SETTING AND PATIENTS: All IVF patients (median age, 36 years; range, 22-48 years) who attended a private IVF clinic in Sydney for an egg retrieval between 1 January 1998 and 31 December 1998, and had embryo placements (fresh and cryostored) performed up to 30 June 2001. MAIN OUTCOME MEASURE: Independently audited live births surviving the neonatal period. RESULTS: 565 women had 648 egg retrievals during the period. The age of peak utilisation of IVF was 39 years. For women aged 34 years or less, the chance of a live birth from one round of egg retrieval and IVF treatment was 52.4% (95% CI, 47%-59%). For women aged 35-44 years, there was a linear decline in the live birth rate, and no babies were born from retrievals at age 45 years and over. There was an age-dependent rise in the frequency of miscarriages, from 10.5% (95% CI, 5%-18%) for women under 35 years, to 16.1% (95% CI, 9%-25%) for those 35-39 years, and 42.9% [95% CI, 24%-63%] for those over 40 years (P < 0.001). A third of the first births resulted from embryo transfers performed after a period of cryostorage. CONCLUSION: As fertility with IVF falls from the age of 34 years, and the age of peak IVF utilisation is 39 years, many Australian women are seeking IVF at an age when the likelihood of a live birth is reduced.
Protein Z deficiencies have recently been described in women with unexplained early fetal loss. Using a new, specifically elaborated, commercially available enzyme-linked immunosorbent assay (ELISA), we performed a case-control study on anti-protein Z immunoglobulin G (IgG) and IgM antibodies in 191 nonthrombotic, nonthrombophilic women with consecutive pathologic pregnancies. Levels of anti-protein Z antibodies were categorized in 3 strata (percentiles 1 through 74, 75 through 97, 98 through 100 among controls). The 2 upper levels of IgG and IgM anti-protein Z antibodies were associated with the risk of unexplained recurrent embryo loss or fetal death independently from habitual antiphospholipid/anticofactor antibodies, and a dose-effect relationship between antibody levels and the clinical risks was evidenced. In women, enhanced immune-complex formation with protein Z may play a role in unexplained embryo losses and, from the 10th week of gestation, may favor hypercoagulability in the maternal placenta side.
Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and midface in humans, with a frequency of 1/16,000 live births. Different genes are implicated in the pathogenesis of HPE; these include SHH, ZIC2, SIX3, TGIF, and human DKK1. We describe here a family with recurrence of autosomal dominant HPE in different members showing a wide clinical variability. The mother presents a single central maxillary incisor and mild hypotelorism as signs of the diseases, while three of her sons were affected by HPE. By direct sequencing and restriction analysis of exon 2 of the SHH gene, we have identified a previously undescribed nonsense mutation at codon 128 (W128X). The identification of this mutation allowed us to give a prenatal diagnosis in this family and confirms a wide intrafamilial variability in the phenotypic spectrum.