Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. (49/83)

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Evaluation of pregabalin as an adjuvant to patient-controlled epidural analgesia during late termination of pregnancy. (50/83)

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Paper 2: EUROCAT public health indicators for congenital anomalies in Europe. (51/83)

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An infant with trisomy 18 and a ventricular septal defect. (52/83)

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Trends in selective abortions of girls in India: analysis of nationally representative birth histories from 1990 to 2005 and census data from 1991 to 2011. (53/83)

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Prenatal diagnosis of trisomy 9. (54/83)

We present a foetus affected by trisomy 9, a rare chromosomal disorder, which was diagnosed in a low-risk patient during the first trimester of pregnancy. The finding of multiple structural foetal anomalies at the first trimester screening prompted chorionic villus sampling. Evaluation of the quantitative fluorescent polymerase chain reaction was normal, but the final karyotype result revealed a diagnosis of trisomy 9. First trimester screening for detection of foetal anomalies is highly effective. Although rapid molecular methods are available for prenatal diagnosis of common autosomal and sex chromosome aneuploidies, it is essential to obtain a full karyotype in order to exclude the less commonly encountered chromosomal abnormalities.  (+info)

Unfinished feticide. (55/83)

A fetus may survive an intentional interference with its intrauterine environment (1) if gestational age is mistaken and the procedure of induced abortion does not kill the fetus, (2) if a change of heart takes place after abortifacient drugs are taken and the abortion does not proceed, and (3) if a high-multiple pregnancy is reduced to a singleton or a twin pregnancy to improve the likelihood that the remaining fetuses will reach viability. In each case, through cause or coincidence, an abnormal baby may be born. The well-intentioned physician, responding to a patient's medical or psychological needs, risks a legal action in negligence or assault brought by a deformed surviving child. This hazard means that medical termination of pregnancy and selective pregnancy reduction put the practising physician at substantial risk in a way not usually associated with induced abortion.  (+info)

Controlling Sickle Cell Disease in Ghana--ethics and options. (56/83)

Sickle Cell Disease (SCD) is a significant public health burden in Ghana. Recent studies indicate that 2% of Ghanaian newborns are affected by SCD; one in three Ghanaians has the hemoglobin S and/or C gene. As a means of controlling the disease, some authorities have recommended prenatal diagnosis (PND) and selective abortion. In the current era, SCD has a good prognosis and fairly reasonable quality of life. Advances in bone marrow transplantation have shown the disease is curable in selected patients. PND and selective abortion therefore raises a myriad of ethical dilemmas which are considered in this review. In the light of the demonstration of improved prognosis in recent times, PND and selective abortion appears to be applying capital punishment to the unborn child for "crimes" only the parents can be responsible for. In this review, we recommend control of SCD on three levels--preconception genetic testing and strategic reproductive choices, PND and education for carrier parents, and holistic management of persons with SCD. We emphasize the critical importance of self-management, especially self-awareness, in assuring a good quality of life for persons with SCD. We believe such an approach is cost-effective, and consistent with sound ethical principles and good conscience.  (+info)