Integration of genetics and ultrasonography in prenatal diagnosis: just looking is not enough

Article Abstract:

Genetic analysis of fetal abnormalities combined with detailed ultrasound may be superior to primary ultrasound examinations. Researchers reviewed the high risk indications for referral to a genetic analysis center for 14,725 pregnancies over a five-year period. Fetal abnormalities were detected in 1992 patients (13.5%) by either amniocentesis or chorionic villus sampling. Twenty-eight patients were referred on the basis of abnormal ultrasound findings that turned out to be incorrect. Abnormalities in these patients were detected by genetic analysis instead. Genetic analysis followed by counseling should precede ultrasonographic diagnoses of fetal defects.

Birth defects, Genetic screening, Genetic testing, Diagnosis, Ultrasonic, Diagnostic ultrasonography

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Abnormal nuchal findings on screening ultrasonography: aneuploidy stratification on the basis of ultrasonographic anomaly and gestational age at detection

Article Abstract:

Folds in the fetal neck appear to indicate a high probability of genetic abnormality, but the odds vary according to the appearance of the folds and the gestational age at which they are seen. Researchers evaluated 158 fetuses with neck folds, membranes, or partitioned membranes as seen with ultrasound imaging. One-third of the total group had genetic abnormalities. One-quarter or less of fetuses with simple membranes were abnormal compared with over half the fetuses with partitioned membranes. Persistence of a nuchal membrane past the first trimester also increased the odds of genetic abnormality.

Abnormalities, Ultrasound imaging, Fetus, Neck, Aneuploidy

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Multifetal pregnancy reduction: perinatal and fiscal outcomes

Article Abstract:

Multifetal pregnancy reduction can improve the outcome of the babies who remain and save substantial amounts of money. Infertility treatments are the most common cause of multifetal pregnancies, leading to premature birth, low birth weights and substantial infant disability and death.

Care and treatment, Pregnancy, Multiple, Multiple pregnancy

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