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Female Fetus (female + fetus)
Selected AbstractsPrenatal Sex Determination and Sex-Selective Abortion in Rural Central ChinaPOPULATION AND DEVELOPMENT REVIEW, Issue 2 2001Chu Junhong This study analyzes the practice of prenatal sex selection in rural central China. It examines the prevalence and determinants of prenatal sex determination by ultrasound scanning and subsequent sex-selective abortion. The data are derived from a survey of 820 married women aged 20,44 and from in-depth interviews with rural women and men, village leaders, family planning managers, and health providers, conducted by the author in one county in central China in 2000. Prenatal sex determination was a widespread practice, especially for second and higher-order pregnancies. Sex-selective abortion was prevalent and order of pregnancy, sex of fetus, and sex of previous children were major determinants of the practice. A female fetus representing a high-order pregnancy in a family with one or more daughters was the most likely to be aborted. Awareness among rural families that in the population at large a future marriage squeeze was likely did not diminish the demand for sex-selective abortion. [source] Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) systemPRENATAL DIAGNOSIS, Issue 5 2006Shin-Yu Lin Abstract Objectives To present the prenatal genetic diagnoses and counseling for two cases of oculocutaneous albinism (OCA) type I family by detection of mutations in the OCA1 gene by denaturing high performance liquid chromatography (DHPLC) system and a review of the literature. Methods All DNA samples were extracted from peripheral whole blood and amniocentesis-derived cells. Mutation analysis was performed for all five coding exons of the TYR gene, which were amplified by PCR. DHPLC was used for heteroduplex detection and sequence analysis was performed to demonstrate the mutation loci. Results Case 1: After sampling of blood from the family members and performing amniocentesis of the fetus, it was demonstrated that the affected boy and the female fetus were shown to be compound heterozygotes for mutations in the TYR gene. In addition, it was shown that the parents were carriers of the two mutations. However, the couple chose to keep the baby. Case 2: Mutation analysis of the DNA of the siblings revealed two heterozygous mutations in the TYR gene. Her husband is free of the disease. According to the principles of autosomal recessive inheritance, the incidence of affected offspring is very low. Conclusions Herein we introduce a novel application for molecular diagnostic of DHPLC coupled with direct sequencing, which can provide an effective and exact diagnosis in patients with albinism. Clinicians should be cognizant of the risk of OCA inheritance by the offspring through careful identification of genetic mutations and the inheritance mode, both important to ensure comprehensive genetic counseling. Copyright © 2006 John Wiley & Sons, Ltd. [source] Semilobar holoprosencephaly in a 46,XY female fetusPRENATAL DIAGNOSIS, Issue 10 2001Ingrid Witters Abstract We report the prenatal echographic diagnosis of holoprosencephaly (HPE) at 11 weeks' gestation. Fetopathological examination revealed an unusual variant of semilobar HPE with middle interhemispheric fusion associated with sex-reversal: 46,XY normal male karyotype, normal external and internal female genitalia and streak gonads. Copyright © 2001 John Wiley & Sons, Ltd. [source] SHORT COMMUNICATION: Gender Ratio Distortion in Abortuses and Live Births From Patients with Recurrent Spontaneous AbortionAMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 3 2009Takashi Kano Problem, Gender ratio of live birth in humans is approximately 1.05 and males are born a slightly more, while gender ratio of fertilization should be 1.00, suggesting that female fetus might be more sensitive to abortion than male fetus during pregnancy. Method of study, We examined karyotype of abortuses from patients with recurrent spontaneous abortion (RSA), who had at least one live birth before or after the treatment of RSA. Results, Chromosomal abnormality was not frequent (14.6%) in the abortuses from the RSA patients. Among abortuses without chromosomal abnormality, male karyotype was rare (9.2%), and this gender ratio distortion was more prominent in RSA cases not carrying autoantibodies (3.5%) than that in the RSA cases carrying autoantibodies (26.3%), with statistical significance (P = 0.009). Conclusion, These observations suggested that the aborted fetuses from RSA of unknown etiology, i.e. no chromosomal abnormality and no autoantibody, were preferentially female. [source] Germline mosaicism in Rett syndrome identified by prenatal diagnosisCLINICAL GENETICS, Issue 3 2005F Mari Rett syndrome is an X-linked neurodevelopmental dominant disorder that affects almost exclusively girls. The vast majority of cases are sporadic and are caused by de novo mutations in the MECP2 gene, located in Xq28. Only few familial cases have been reported: in four cases, the mother was an asymptomatic carrier and in other four cases, the germline mosaicism in the mother was postulated. Owing to the above reported cases of germline mosaicism, we decided to offer prenatal diagnosis to all expectant mothers with a Rett daughter despite the absence of the causative mutation in parents' blood. We describe here the outcome of the first nine cases of prenatal diagnosis followed by our center. In eight cases, the fetus did not carry the mutation. In one case, the female fetus did carry the same mutation of the affected sister. The couple decided to interrupt the pregnancy and to devolve fetal tissues for research purposes. Our results indicate that prenatal diagnosis should be proposed to all couples with a Rett daughter, even when the mutation is apparently de novo. Moreover, one positive prenatal test among the first nine cases indicates that germline mosaicism may be seriously considered for the assessment of recurrence risk during genetic counseling. [source] |