OBJECTIVE To validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies. METHODS We retrospectively reviewed the medical records of consecutive pregnant women who had undergone CVS at Cheil General Hospital between December 2009 and June 2014. Only cases with reported QF-PCR before long-term culture (LTC) fo...

Background: Prenatal cystic fibrosis (CF) screening is currently based on determining the carrier status of both parents. We propose a new method based only on the analysis of DNA in maternal plasma. Methods: The method relies on the quantitative amplification of the CF gene to determine the percentage of DNA fragments in maternal plasma at targeted CF mutation sites that carry a CF mutation. C...

Second trimester screening for Down's syndrome is widely practised throughout the world. We assessed the performance of antenatal serum screening for Down's syndrome with the quadruple test in 46193 pregnancies from 14 hospitals over 5 years. Women who screened positive (risk > or =1 in 300) were offered diagnostic amniocentesis or chorionic villus sampling. Of 88 observed Down's syndrome pregn...

In this study, we examined the existence and structure of areolae and the steroidogenesis of areolar trophoblast cells in the Antarctic minke whale placenta morphologically and immunohistochemically. Placentas were collected from the 15th, 16th and 18th Japanese Whale Research Program under Special Permit in the Antarctic (JARPA) and 1st JARPA II organized by the Institute of Cetacean Research ...

The objective of this study was to examine the suitability of multiplex ligation-dependent probe amplification (MLPA) in chorionic villus samples as a replacement for traditional karyotyping for the detection of (an)euploidies of chromosomes 21, 18, 13, X, and Y. Chorionic villus samples were diagnosed by traditional karyotyping using short-term cultures (STC) and long-term cultures (LTC), and ...

BACKGROUND Improving maternal and child health remains a top priority in Nigeria's Bauchi State in the northeastern region where the maternal mortality ratio (MMR) and infant mortality rate (IMR) are as high as 1540 per 100,000 live births and 78 per 1,000 live births respectively. In this study, we used the framework of the continuum of maternal and child care to evaluate the impact of interve...

OBJECTIVE To determine the potential value of measuring the placental volume at 11 to 13 + 6 weeks of gestation in screening for chromosomal defects. METHODS The placental volume was measured using three-dimensional ultrasound in 500 consecutive singleton pregnancies immediately before chorionic villus sampling for fetal karyotyping at 11 to 13 + 6 (median, 12) weeks of gestation. RESULTS T...

OBJECTIVE To assess the accuracy of fetal sex determination at 11-14 weeks of gestation. METHODS Fetal gender assessment by ultrasound was prospectively carried out in 172 singleton pregnancies at 11-14 weeks of gestation immediately before chorionic villus sampling for karyotyping. The genital region was examined in a midsagittal plane and the fetal gender was assigned as male if the angle o...

OBJECTIVE To compare the experiences of women who received a screen-positive test result for Down syndrome after nuchal translucency screening or after biochemical screening in the first trimester of pregnancy in the Netherlands. METHOD Semi-quantitative questionnaires were sent to 40 women with a screen-positive test result for Down syndrome in the first trimester of pregnancy: 20 had underg...

BACKGROUND Chorionic Villous Sampling (CVS) is a diagnostic method for determining genetic disorders. The present study aimed to determine the negative predictive value of the CVS in the diagnosis of major thalassemia in genetic laboratory of Dastgheib Hospital, Shiraz, Iran. METHODS The present research was an evaluation diagnostic test conducted on 372 records of embryos examined through CV...