OBJECTIVE The primary objective of this study was to determine if isolated pyelectasis is a risk factor for trisomy 21. STUDY DESIGN Twelve thousand, six hundred and seventy-two unselected singleton fetuses were examined by prenatal ultrasound during the second trimester at a single institution. The sensitivity, specificity, positive predictive value, negative predictive value, and likelihood...

BACKGROUND The pathologic features of Down syndrome are assumed to be the result of over-expression of genes located on chromosome 21 and/or a more global transcriptional misregulation that crosses chromosomal borders. METHODS To address this issue, four RNA samples from trisomy 21 placentas and four samples from normal first trimester pregnancies were analyzed using Affymetrix U95v2 microarr...

Previous studies on relatively small samples of individuals with trisomy 21 caused by paternally derived errors have shown that: (1) advanced paternal age is not a risk factor for chromosome 21 nondisjunction (NDJ), (2) absence of recombination, but not the location of recombination is associated with paternal NDJ and (3) there is an excess of males among live-births with paternally derived tri...

Analysis of the frequency data of each fingerprint type (arch, ulnar loop, radial loop, and whorl) of the parents of children with Trisomy 21 (Fathers: 71; Mothers: 128) born between 1965 and 1970 obtained from the Tokyo Medical and Dental University Hospital was carried out. Japanese controls were taken from dermatoglyphics data in Japan. We conducted the Friedman test on each type of fingerpr...

Waldenström's macroglobulinemia is a disease of mature B cells, the genetic basis of which is poorly understood. Few recurrent chromosomal abnormalities have been reported, and their prognostic value is not known. We conducted a prospective cytogenetic study of Waldenström's macroglobulinemia and examined the prognostic value of chromosomal aberrations in an international randomized trial. The ...

By using the newly developed adhesive tumor cell culture system, we analyzed the chromosomal constitutions of primary lung tumor and nonmalignant normal lung tissue from 10 previously untreated patients with non-small cell lung cancer. Chromosomal analyses were successfully carried out in banded chromosome preparations from 10 tumor and 8 normal lung tissue samples. All analyzed tumor and norma...

introduction: the most common chromosomal abnormalities detected in perinatal period are aneuploidies of chromosome 21, 18, 13, x and y. the aim of this study is to assess referral reasons for invasive diagnostic method using rapid qf-pcr for fetal chromosomal abnormalities in gynecologists’ referrals. methods: a retrospective study of results was performed on data between september 2015 and ju...

Trisomy 9 can be suspected and confirmed in the prenatal period since the 11-13.6 weeks of screening. In cases of partial trisomy 9, the diagnosis is important especially to counseling the couple due to the increased likelihood of recurrence in subsequent pregnancies.

OBJECTIVE The purpose of this study was to analyze humeral length (HL) in a normal population and to compare that with HL in a population of fetuses with trisomy 21 to determine the most efficient discriminating parameters for diagnostic accuracy. METHODS A nested case-control study comparing HLs from a normal population and a population of fetuses with trisomy 21 was conducted. Humeral lengt...