Regardless of the spontaneous resolution of abnormal nuchal translucency, there was a high association with both karyotypical and structural abnormalities, and the prognosis of such cases was generally poor, especially persistent NT's prognosis.

ObjectivesThere is no consensus regarding a possible relation between false positive glucose challenge test (GCT) results and large-for-gestational-age (LGA) infants. This study aimed to clarify the association between false positive GCT results and LGA, after adjusting for potential confounding factors, using a large clinical dataset.DesignRetrospective cohort study.SettingNational Hospital Organisation Kofu National Hospital, which is a community hospital, between January 2012 and August 2019.ParticipantsJapanese women who underwent GCT between 24 and 28 weeks of gestation at the hospital were included. After excluding those with gestational diabetes mellitus, diabetes in pregnancy and multiple pregnancies, subjects were divided into a false positive GCT group (≥140 mg/dL) and a GCT negative group (<140 mg/dL).MethodsObstetric records of patients were examined. The χ2-test and multivariable logistic regression analysis were used to investigate the association between false positive GCT results and LGA.Primary and secondary outcome measuresIncidence of LGA and the association between false positive GCT results and LGA.ResultsThe mean subject age was 31.4±5.5 years, with 43.3% nulliparity (n=974) and 2160 (96.1%) term deliveries. The incidence of LGA was 9.4% (211/2248) and 11.4% (257/2248) of the women had false positive GCT results. False positive GCT results were significantly associated with an increased risk of LGA (OR, 1.51; 95% CI, 1.02 to 2.23), after controlling for maternal age, prepregnancy maternal weight, maternal weight gain during pregnancy and parity.ConclusionsIt appears that there is a significant association between false positive GCT results and LGA. Additional research is required to confirm these results and to investigate appropriate interventions for women with abnormal screens for gestational diabetes mellitus.

A 30-year-old woman and her husband visited our hospital with habitual abortion as the complaint. Chromosome examination revealed a normal 46, XX for her and 46, XY, 15, der (15) t (Y; 15) (q12; p12) for him. After her pregnancy amniocentesis was performed. The karyotype was 46, XX, 15, der (15) t (Y; 15) (q12; p12) pat. ish der (15) (DYZ1+). A female baby was delivered. The growth of the baby was normal at 12 months of age.

Abstract. Presence of alternatively spliced-estrogen receptor (ER) mRNA variants has been revealed in the breast cancer tissues. The ER variants transcribed from these mRNA variants were supposed to cause changes in the estrogen responsiveness of breast cancer. Although uterine endometrial cancer also has an estrogen-dependent profile, these ER mRNA variants have not yet been reported in the tumor. In the present study, we attempted to detect the exon 7 deletion-(del.7-) and exon 5 deletion (del.5) ER mRNA variants in normal human uterine endometrium (hEM) and uterine endometrial cancer tissue (hEC) by the use of reverse transcription-polymerase chain reaction-Southern blotting (RT-PCR-SB) with the PCR primers: hE4 (forward), hE6 (reverse), and hE8 (reverse), which were located in exons 4, 6, and 8, respectively. Two major products were generated from RNAs of both hEM and hEC with primers hE4 and hE8. The nucleotide sequence of the longer product was identical to exon 4-8 of human ER cDNA, whereas that of the shorter one completely deleted exon 7. Moreover, when the RT-PCR was done with the primers hE4 and hE6, the shorter product lacking exon 5 was detected with the longer one having the same sequence as exon 4-6 of human ER cDNA. Since the RT-PCR-SB with primers hE4 and hE8 produced a very low or undetectable level of the signals corresponding to del.5 ER mRNA variant, the level of del.7 ER mRNA variant seemed to be higher than that of del.5 ER mRNA variant. These results strongly suggested that both de1.7-and del.5 ER mRNA variants exist in the normal uterine endometrium as well as in endometrial cancer. The ER variants, possibly expressed in these tissues, may play a physiological and/or pathological role.

The shortened femur and humerus length fetuses in Japanese women demonstrated an increased risk of structural malformations, especially in the cardiovascular system, as well as chromosomal abnormalities.