Noninvasive prenatal testing and fetal sonographic screening roundtable discussion Lee W, Yagel S, Cohen, SM, Benacerraf BR, Cuckle H, Kagan KO, Van den Veyver I, Wapner R. J Ultrasound Med 2015; 34 (3): 363–69. Seven leading clinicians from Israel, USA, England and Germany were sent 10 questions about non-invasive prenatal testing (NIPT) and their responses were summarised. As might be expecte...

Current prenatal diagnosis for fetal aneuploidies (including trisomy 21 [T21]) generally relies on an initial biochemical serum-based noninvasive prenatal testing (NIPT) after which women who are deemed to be at high risk are offered an invasive confirmatory test (amniocentesis or chorionic villi sampling for a fetal karyotype), which is associated with a risk of fetal miscarriage. Recently, ge...

Untreated perinatal substance abuse is associated with serious adverse maternal and neonatal outcomes. Historically, many barriers have prevented pregnant women from seeking treatment. Early Start (ES) breaks new ground by sidestepping these barriers with a fully integrated service delivery model.ES is the largest HMO-based prenatal substance-abuse program in the United States targeting all pre...

The pregnancy and the adaptation to motherhood is one of the most signifcant events during a woman’s life time. The pregnancy is associated with major psychological and physical changes. The woman expects to attach to the fetus and prepare for the life as a mother. Interventions during pregnancy must be implemented with respect for the sensitive period as a pregnancy is. The aim with this chapt...

The great promise of the pending introduction of non-invasive prenatal diagnosis (NIPD) for trisomy 21 (18 and 13) is that it enables one-step, early and safe testing for these abnormalities. The ethical debate so far has been limited to possible drawbacks of routine access to this type of testing: normalization of testing and abortion and adverse effects on autonomous decision-making. We addre...

Down syndrome is the leading cause of prenatal chromosome abnormalities, accounting for 53% of all reported chromosome conditions. Testing strategies, guidelines, and screening options have expanded from their conception in the 1970s, and now include such options as anatomical ultrasound, maternal serum screening, and noninvasive prenatal testing. This review summarizes all currently available ...

There have been major advances in genetic testing especially over the last 10 years. We have advanced from looking at simple chromosomes under a microscope to more sophisticated analysis of the DNA makeup of chromosomes and from testing a single gene to sequencing almost all of our genetic material. Similarly, in the field of prenatal testing we have made great strides in screening and diagnost...

Noninvasive prenatal testing (NIPT) has had a profound influence in the field of prenatal diagnosis since the 1997 discovery of cell-free fetal DNA in maternal blood. Research has progressed rapidly, with clinical data supporting laboratory studies showing that NIPT is highly sensitive and specific for fetal aneuploidy, resulting in marked uptake in the high-risk patient population. The superio...

METHODS: A retrospective cohort study was conducted of 49,261 women who had completed prenatal substance abuse screening questionnaires at obstetric clinics and who had undergone urine toxicology screening tests. Four study groups were compared: women screened and assessed positive and followed by Early Start (screenedassessed-followed, n 2,032), women screened and assessed positive without fol...

Newborn screening for genetic diseases has developed rapidly in Western countries. These biopolitics raise the question of birth as a sociological “knot” insofar as it is the threshold between the (possibly ill or disabled) child and the fetus. The question therefore addressed in this text, based on a field study of newborn screening for cystic fibrosis in France, is that of the link between th...