Results During the study period, 1285 patients answered our inclusion criteria, including 15 with twin pregnancy. 872 have had markers in the first trimester, while 412 have had markers of the second trimester. 93 patients had positive markers for trisomy 21 and / or trisomy 18 and 13. We observed a trend of public sector Gynecologists asking markers of the first trimester (483/501), while the ...

Trisomy 18 and trisomy 13 are conditions often referred to as "incompatible with life" or "lethal anomalies." If there is long-term survival, the outlook is considered "grim." Developmental status is presumed to be minimal. Yet, Baty et al. [1994; 49:189-194] described a variety of developmental skills in their sample. An additional 22 children with trisomy 18 and eight with trisomy 13 are desc...

A 13 year old girl with trisomy 18 is described. She showed profound mental and growth retardation, severe kyphoscoliosis, and unusual ocular features including discontinuous eyebrows, distichiasis, and blue sclerae.

OBJECTIVE To investigate the performance of nuchal fold thickness, nasal bone hypoplasia, reversed flow in the ductus venosus and tricuspid valve regurgitation in the prediction of fetal aneuploidies in the early second trimester. METHODS This was a prospective study of 870 fetuses at 14 + 0 to 17 + 6 weeks of gestation, performed from 2005 to 2007. In all cases we assessed classical structur...

OBJECTIVE To develop a new bioinformatic method in the noninvasive prenatal identification of common fetal aneuploidies using massively parallel sequencing on maternal plasma. METHODS Massively parallel sequencing was performed on plasma DNA samples from 108 pregnant women (median gestation: 12(+5) week) immediately before chorionic villus sampling (CVS) or amniocentesis. Data were analysed u...

In this case, we explore physician conflict with performing surgery (tracheostomy) for long-term ventilation in a term infant trisomy 18 and respiratory failure. Experts neonatal-perinatal medicine, pediatric bioethics, palliative care have provided comments on case. An additional commentary was written by the parent of another 18, who is also medical provider (physical therapist).