14 rezultatus
OBJECTIVE
To evaluate the rate of trisomies and other chromosome abnormalities after positive ultrasound findings in first and second trimester.
METHODS
In this study authors investigate the chromosome abnormalities detected in cases with prior abnormal ultrasound findings. During a ten-year period
BACKGROUND
Prenatal diagnosis of multiple congenital anomalies is difficult, and usually molecular biology cannot immediately confirm the suspected syndrome. Fetal dysmorphology is useful tool in the diagnosis process, with limitations.
METHODS
We report the thorough prenatal investigation by 2D and
OBJECTIVE
To evaluate the rate of trisomies and other chromosome abnormalities after positive ultrasound findings in thefirst and second trimester of pregnancy.
METHODS
The study investigated chromosome abnormalities detected in cases with prior abnormal ultrasoundfindings. During a 10-year period
We determined the type and frequency of abnormal sonographic findings in 187 Down syndrome fetuses. Examinations were performed transvaginally or transabdominally between 9 and 28 weeks' gestation. Consecutive scans performed prior to knowledge of the fetal karyotype (n = 144) were analysed
Our aim was to investigate the contribution of certain antenatally detectable markers leading to the diagnosis of trisomic fetuses we observed over a period of 6 years. In our study, we specifically analyzed the role played by advanced maternal age and sonographically discovered abnormalities in the
OBJECTIVE
This study was conducted to compare the prenatal ultrasound findings and postmortem pathologic findings of fetuses with trisomy 13.
METHODS
Of 22 150 fetal chromosome analyses, 28 fetuses with trisomy 13 were diagnosed between 1990 and 2004. Findings of second-trimester sonography and
OBJECTIVE
The purpose of this study was to compare the prenatal sonographic and postmortem pathologic findings of fetuses with trisomy 21.
METHODS
Among 22,150 fetal chromosome analyses, trisomy 21 was diagnosed in 207 fetuses between 1990 and 2004. Findings of second-trimester sonography and fetal
OBJECTIVE
To design a scheme to rank sonographic anomalies as indicators of aneuploidy and record the distribution of data from 2143 prenatal amniotic fluid/chorionic villous sample diagnoses referred for karyotyping because of fetal anomalies detected with ultrasound.
METHODS
In all cases the
OBJECTIVE
To describe the prenatal findings in Pierson syndrome, a newly defined autosomal recessive entity, comprising congenital nephrotic syndrome (CNS) with diffuse mesangial sclerosis and distinct eye abnormalities due to LAMB2 mutations.
METHODS
Serial prenatal ultrasound examinations were
Although the incidence of Down syndrome increases with advancing maternal age, the use of maternal age alone as a screening tool results in the identification of only about one third of the cases of fetal Down syndrome. Screening tools for Down syndrome (trisomy 21) have become more sensitive and
Intrauterine treatment of 4 fetuses with urethral obstruction was attempted in the third trimester of pregnancy. The fetuses displayed varying sonographic findings including pyelectasis, caliectasis, hydroureter, bladder dilatation, ascites, hydrops, missing kidneys and oligohydramnios.
BACKGROUND
Early prenatal ultrasound is an important part of prenatal screening in Israel. No studies have described the rate of trisomy 21 [T21] identification at 14-17 weeks gestation.
OBJECTIVE
To describe the rate of T21 identification by transvaginal sonograms (TVS) at 14-17 weeks
OBJECTIVE
To study the outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency thickness (NT), with respect to fetal loss, structural defects and genetic syndromes with developmental delay, and to provide information that would be helpful for parental counseling on