INTRODUCTION The aim of prenatal diagnosis is to detect fetal structural and genetic abnormalities. Used are different medical methods, procedures, processes and techniques. For this reason we can speak about the prevention and detection of hereditary diseases and congenital anomalies in the unborn fetus. MATERIAL AND METHODS The authors analyzed the results of early amniocentesis tests perfo...

BACKGROUND Second trimester amniocentesis has been associated with an excess of perinatal lung function abnormalities. Early amniocentesis might have a similar adverse effect, as could other invasive investigations carried out in the first trimester. METHODS Plethysmographic measurements of thoracic gas volume (TGV) and airway resistance (Raw), from which specific conductance (sGaw) was calcu...

OBJECTIVE The maternal autonomic nervous system (ANS) has received little attention in the investigation of biological mechanisms linking prenatal stress to fetal cortisol (F) excess. In vitro, norepinephrine and epinephrine inhibit placental 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2), which protects the fetus from F overexposure by inactivating it to cortisone (E). Here, we investigate...

OBJECTIVE The purpose of this retrospective observational cohort study was to determine the impact of certain risk factors on fetal loss, after mid-trimester amniocentesis. MATERIAL AND METHODS Six thousand seven-hundred and fifty-two (6752) consecutive amniocenteses with known pregnancy outcome performed during a 7-year period (2004-2010) were included in this study. Different maternal-, fet...

OBJECTIVE To determine if the primary method of cytogenetic analysis in pregnant women undergoing amniocentesis should be quantitative fluorescent polymerase chain reaction (qf-PCR), with karyotyping being performed only on those with abnormal ultrasound findings. METHODS Amniocentesis was performed in 3854 cases. The median maternal age was 36 years and median gestational age was 18 weeks. T...

OBJECTIVE The purpose of this study was to assess the effect of first-trimester ultrasound examination for chromosomal aberrations in women who underwent amniocentesis. METHODS To evaluate trends in the indications of amniocentesis and the number of chromosomal aberrations, we reviewed all amniotic fluid samples from genetic amniocentesis processed by the Tama-Nagayama Hospital of Nippon Medi...

Chorionic villus sampling (CVS) or amniocentesis for fetal sex determination is generally the first step in the prenatal diagnosis of X-linked genetic disorders such as Duchenne muscular dystrophy (DMD). However, non-invasive prenatal diagnostic (NIPD) techniques such as measurement of cell-free fetal DNA (cffDNA) in maternal plasma are preferable given the procedure-related miscarriage rate of...

OBJECTIVE To compare the short-term outcomes of two different-sized needles for genetic amniocentesis. MATERIALS AND METHODS A total of 271 amniocentesis were retrospectively evaluated in 2 groups concerning the size of the needles used during the procedure: Conventional 20-gauge (G) (n=164) and 22G (n=107). Periprocedural complications and cost-effectiveness were compared across the groups. ...

OBJECTIVE To assess the fetal loss rate following amniocentesis and chorionic villus sampling (CVS). METHODS This was a national registry-based cohort study, including all singleton pregnant women who had an amniocentesis (n = 32 852) or CVS (n = 31 355) in Denmark between 1996 and 2006. Personal registration numbers of women having had an amniocentesis or a CVS were retrieved from the Danish...

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...