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Althoughmaternally derived X pentasomy following intracytoplasmic sperm injection (ICSI) is rare, prenatal detection of a case offers insight into etiology and diagnosis. A 29-year-old gravida 1 whose pregnancy resulted from ICSI was referred for ultrasound screening at 11 weeks’ gestation. Nuchal translucency thickness was 3.2 mm, and the fetal nasal bone was absent. Subsequent evaluation revealed karyotype 49,XXXXX. DNA microsatellite analysis showed the extra X chromosomes were maternal in origin. Termination of pregnancy was performed at 15 weeks. Because of the increased risk of sex chromosomal abnormalities in ICSI pregnancies, patients should be counseled prior to fertilization and standard prenatal care should include nuchal translucency measurement and any other elements necessary for indicated pregnancies to obtain a diagnosis.

Objective Universal screening for colonization by group B streptococcus (GBS) is the recommended strategy to reduce incidence of colonization in newborns and prevent neonatal GBS-related disease. This study was designed to assess maternal anxiety levels about prenatal screening and psychological impact of positive colonization test results. Methods A total of 71 women who screened positively for GBS colonization and 112 screen-negative women (controls) were recruited. Anxiety levels were measured by the Spielberger State Trait-anxiety Inventory just before the GBS screening test, 1-week after testing, and 1-week after delivery. After delivery of their infants, all participants were asked to respond with a Likert scale line about attitudes toward being tested for GBS colonization. Results Women with GBS colonization reported significantly greater psychological distress on state-anxiety scores after the full report was received. The trait- and state-anxiety scores before GBS screen testing and after delivery did not differ between the groups. Both groups of women were strongly positive about being screened for GBS in the current pregnancy and in future pregnancies. Conclusion Women with GBS colonization did not have a sustained increase in anxiety; therefore, clinician concerns about causing maternal anxiety should not be an impediment to test for GBS.

Background Trisomy 18, the second most common autosomal trisomy, has the highest incidence of congenital heart disease of all chromosomal abnormalities. This study assessed the use of nuchal translucency (NT) measurement and fetal echocardiography at 16 to 18 weeks of gestation in prenatal detection for trisomy 18. Methods Screening for chromosomal aneuploidy using fetal NT measurement was performed at 10 to 14 weeks of gestation. Detailed fetal echocardiography was performed at 16 to 18 weeks of gestation immediately before genetic amniocentesis for fetal karyotyping in singleton pregnancies with increased fetal NT thickness. Results Of the 3151 singleton pregnancies included in our study, 171 cases (5.4%) of increased (≥3.0 mm) NT were noted. Fetal chromosomal abnormalities were identified in 22 (12.9%) of these pregnancies, including 9 with trisomy 21, 5 with trisomy 18, 4 with 45,X and 4 with unbalanced structural abnormalities. Major defects of the heart and the great arteries were identified in 13 (7.6%) of these pregnancies with increased NT. These included eight pregnancies that also had the diagnosis of chromosomal aneuploidy. Among the 22 fetuses with confirmed aneuploidy, all 5 fetuses with trisomy 18, 1 of the 4 fetuses with 45,X and 2 of the 9 fetuses with trisomy 21 had increased fetal NT thickness associated with abnormal fetal echocardiography findings. Conclusions Screening for Down syndrome and cardiac defects using first-trimester fetal NT measurement in combination with fetal echocardiography at 16 to 18 weeks of gestation is a feasible and sensitive procedure for the prenatal detection of trisomy 18. Copyright © 2003 John Wiley & Sons, Ltd.

There have been several investigations reporting on urinary retention in postpartum women who delivered vaginally with epidural blockade. The mechanism and incidence of urinary retention in relation to epidural analgesia, however, are not established. The objectives of this study were to investigate the association between various obstetric parameters and urinary retention and to determine whether those women with postpartum urinary retention subsequently develop urinary problems. From December 1999 to September 2000, 110 primiparas who delivered vaginally with epidural analgesia for labor pain relief were recruited prospectively. One hundred primiparas delivering under similar conditions without epidural analgesia were selected as the control group. Residual urine volume was calculated by trans-abdominal sonogram. A computerized obstetric database was analysed to compare the two groups. Women with epidural analgesia, especially those with residual volume exceeding 500 ml, had significantly longer labor course, a higher percentage of instrumental deliveries and more extensive vaginal or perineal lacerations than the control group. Only a few women had persistent problems with micturition six months after delivery. Epidural analgesia provides valuable pain relief but may be associated with greater residual urine. Postpartum urinary retention is, however, more related to prolonged labor than to the effect of epidural analgesia itself. Close monitoring of the progress of labor and avoiding urine retention are essential.

Prenatal Down syndrome screening with maternal serum alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) has become common. High levels of maternal serum hCG and low levels of AFP have been associated with an increased risk of fetal Down syndrome. In this paper, we report five pregnancies in patients undergoing long-term haemodialysis, all of whom had false-positive second-trimester Down syndrome screening results. All of our five patients had extremely high levels of maternal serum hCG, but normal AFP values for their gestational age, and all had serious complications during pregnancy.

High free beta human chorionic gonadotropin (beta-hCG) and low alpha-fetoprotein (AFP) levels were found in 47 Asian Down's syndrome pregnancies (median values 2.79 and 0.77 MOM, respectively). At a 5 per cent false-positive rate, free beta-hCG alone would identify 46.8 per cent of Down's syndrome pregnancies, age alone detected 34.5 per cent of affected cases, whilst AFP alone detected 17 per cent and free beta-hCG/AFP MOM ratios detected 48.9 per cent of Down's syndrome cases. When combined with maternal age-specific risk, free beta-hCG could achieve a 59.6 per cent detection rate, with AFP achieving 42.6 per cent, free beta-hCG/AFP MOM ratios 61.7 per cent, and combined free beta-hCG and AFP a detection rate of 63.8 per cent for a 5 per cent false-positive rate. Down's syndrome screening at an early gestational age (before 18 weeks) could achieve a 68 per cent detection rate with a 5 per cent false-positive rate, compared with a 59.1 per cent detection rate for a 5.2 per cent false-positive rate when screening at a late gestational age. The use of free beta-hCG in Down's syndrome screening programmes can yield an improved efficacy in the detection of Down's syndrome in an Asian population.

Neonatal genital prolapse, an uncommon condition,usually presents as a tumor-like mass protruding from theventralpartofthevulva.Allcasesthathadbeenpreviouslyreported were diagnosed after birth. We present thefirst case report of fetal genital prolapse that presentedprenatally by ultrasonography as a solid protruding lesionon the ventral part of the vulva. Postnatal magneticresonance imaging (MRI) confirmed the diagnosis ofan isolated neonatal vaginal prolapse. At follow-upexamination at 6 months of age, the infant’s externalgenitalia appeared normal, with no evidence of genitalprolapse.A 33-year-old woman, gravida 2 para 1, attended ourprenatal care clinic at 12 weeks’ gestation to request first-trimester ultrasound screening to evaluate the risk offetal Down syndrome. Ultrasound examination revealedan increased nuchal translucency thickness of 3 mm.After genetic counseling, chorionic villus sampling wasperformed uneventfully; testing revealed a normal femalekaryotype (46,XX). The patient presented at 20 weeks’gestation to complain that an error had been made inthe ultrasonographic fetal gender deduced at a localobstetric clinic. Consequently, we performed a detailedfetal sonographic examination, which found a phallus-like structure protruding over the ventral part of thefetal vulva (Figure 1). The covering of the protrudingmass was continuous with the lining of the vaginal wall(Figure 2). Fetal growth was appropriate for gestationalage, but the amniotic fluid index was 29.2 cm, indicatingpolyhydramnios. Fetal ambiguous genitalia or genitalprolapse were suspected.Sex-determining region Y gene analysis was negativeafter a follow-up amniocentesis was done to providerapid fetal sex determination (ruling out an XX maleor maternal cell contamination) and ensure that noerror had occurred in the original fetal karyotyping.Androgen levels were measured in maternal blood andfound to be normal. Both parents were negative forthe carrier test for the CYP21 gene. A diagnosis offetal genital prolapse was finally made. The parentswere made aware of the implications of the diagnosisand made a fully informed choice to continue thepregnancy.At 33 weeks of gestation, the patient was admitted withpreterm rupture of membranes and emergency Cesareansection ensued owing to breech presentation. At birth,the baby weighed 2080 g and had a mass protrudingbetweentheinfantlabiaminora.Closeinspectionrevealedrugae consistent with vaginal epithelium (Figure 3). Anormal urethral orifice was confirmed and spontaneousvoiding was observed along with a normal outer analappearance with passage of meconium. The prolapsedlesion was reducible with a Q-tip. Two weeks later,transabdominalultrasonographydepictedanormalinfantuterus measuring 2

We present the early diagnosis and successful surgical treatment of uterine perforation. This was a rare case of cystic change of a uterine perforation, which was diagnosed by sonography during the first trimester of pregnancy. Surgical closure of the uterine wall defect was successful.