There is a wide range of noninvasive screening methods that aim to identify the subgroup of fetuses that are in a high risk of chromosomal defects. Invasive procedures should be offered to women in the high-risk group identified with the highest possible detection rate and the lowest false-positive rate. The method of choice at 11 + 0 13 + 6 weeks is chorionic villus sampling. An early amniocen...

Brambati, Simoni, and Fabro have provided us with an excellent discussion of the many aspects of chorionic villus sampling in this book. In addition to a thorough review of the historical, technical, and practical elements of the procedure, attention has been directed to the social and ethical issues surrounding this valuable and new means of addressing the fetal patient. Bernadette Modell also...

OBJECTIVE To assess the performance of cell-free DNA (cfDNA) testing in maternal blood for detection of fetal aneuploidy of chromosomes 13, 18, 21, X, and Y using targeted sequencing of single-nucleotide polymorphisms. METHODS Prospective study in 242 singleton pregnancies undergoing chorionic villus sampling at 11 to 13 weeks. Maternal blood was collected before chorionic villus sampling and...

BACKGROUND Prenatal testing guidelines recommend offering amniocentesis or chorionic villus sampling to women aged 35 years or older, or who have been found by screening to be at a similarly high risk of giving birth to an infant with Down's syndrome or another chromosomal abnormality. This threshold was chosen, in part, because 35 was the approximate age at which amniocentesis was cost benefic...

The aim of this study was to calculate the risk for aneuploidy in twin pregnancies between 9-14 weeks utilizing maternal age, race and dizygotic twinning rates. Using previously published risks for aneuploidy in singletons and twins at the time of amniocentesis and at term, we calculated new risk estimates for twins at 9-14 weeks gestation or at the time of chorionic villus sampling. Using thes...

AIM In an earlier study we have shown that transcervical chorionic villus sampling in excess of 90 mg increases the risk for hemangiomas of infancy three- to four-fold compared to amniocentesis. In the present study we investigated whether transabdominal chorionic villus sampling (TA-CVS), in which the samples are smaller, carries the same risk. MATERIAL AND METHODS Retrospectively, data were...

OBJECTIVE To assess the feasibility of offering array-based comparative genomic hybridization testing for prenatal diagnosis as a first-line test, a prospective study was performed, comparing the results achieved from array comparative genomic hybridization (aCGH) with those obtained from conventional karyotype. METHOD Women undergoing amniocentesis or chorionic villus sampling were offered a...

OBJECTIVE Fetal reduction (FR) in multiples dramatically improves outcomes. We prioritize FR decisions for health and historically declined to factor gender. As male preferences apparently diminished, our bioethicist encouraged a re-evaluation. METHODS Three hundred ninety-six patients reducing triplets or twins were categorized as 3➔2, 3➔1, and 2➔1, Major (M) anomaly or minor (m) anomaly, sa...

We present the case of a monozygotic twin pregnancy discordant for phenotype and karyotype. A chorionic villus sample was performed at the 11th week of gestation in a primigravida because of cystic hygroma detected by ultrasound in one twin of a monochorionic, biamniotic pregnancy. Rapid testing by means of quantitative fluorescence polymerase chain reaction and conventional karyotyping, obtain...