Attitudes of pregnant women regarding termination of pregnancy for fetal abnormality.

OBJECTIVE: To study the attitudes of pregnant women towards termination of pregnancy for fetal abnormality. MATERIALS AND METHODS: A questionnaire was completed by all pregnant women attending routine ultrasound scan. They were asked whether they would opt for termination of the pregnancy in case the fetus was diagnosed with one of the following abnormalities: lethal anomaly, anomaly causing developmental delay, anomaly causing physical handicap, anomaly causing disfigurement and severe anomaly diagnosed after 24 weeks of pregnancy. Logistic regression analysis was used to examine the effect of a variety of demographic and socio-economic characteristics in their choices. RESULTS: A total of 533 women completed the questionnaire out of which 447 (86%) would terminate the pregnancy in case of lethal fetal anomaly. The corresponding figures for anomaly causing developmental delay, anomaly causing physical handicap and anomaly causing disfigurement were 396 (77.8%), 332 (65.9%) and 228 (45.2%). A total of 313 (64.7%) would request late termination owing to severe anomaly. The only two statistically significant factors that influenced the maternal decision on pregnancy termination were religious beliefs and the frequency of practicing religious duties (p < 0.001). CONCLUSION: The majority of pregnant women would terminate pregnancy for lethal fetal anomaly and for an anomaly causing mental or physical handicap, even in late pregnancy.

Immature teratoma in pregnancy: a case report and literature review.

BACKGROUND: The management of a Stage I immature teratoma during pregnancy with a review of the literature is reported. CASE REPORT: A growing adnexal mass was removed at 12 weeks of gestation. Although the frozen section was negative, because of intraoperative clinical suspicion, a right salpingo-oophorectomy and surgical staging were performed. Histological examination revealed a Stage Ia, grade 1 immature ovarian teratoma. Appropriate surgical staging enabled avoidance of chemotherapy despite the unexpected histological diagnosis. The pregnancy was terminated because of fetal distress, with cesarean section at 34 weeks of gestation. At that time the peritoneal cavity was inspected and biopsies were taken as in second-look laparotomy. Two years after the first operation the patient remains disease free. CONCLUSION: For adnexal masses removed during pregnancy frozen section is useful but when there is clinical suspicion surgical staging must be performed.

Congenital nephrotic syndrome presenting with increased nuchal translucency in the first trimester.

Congenital nephrotic syndrome of the Finnish type (CNF) and diffuse mesangial sclerosis (DMS) are rare causes of renal failure in infants. We report two cases, one of each condition, presenting with increased nuchal translucency at the 11-14-week scan, and review the literature.

Maternal serum levels of total activin-A in first-trimester trisomy 21 pregnancies.

Maternal serum total activin-A concentration was measured in 45 pregnancies affected by trisomy 21 and 493 control unaffected pregnancies at 10-14 weeks of gestation. In the trisomy 21 pregnancies total activin-A concentration was significantly higher (1.36 MoM of the unaffected pregnancies) and in 16% of cases the level was above the 95th centile of normal. The log10 SD for the control group and the trisomy 21 group were 0.17 and 0.22, respectively. The median pregnancy associated plasma protein-A (PAPP-A) in this trisomy 21 series was 0.49 and for free beta-hCG was 2.05. In the trisomy group there were significant positive associations between total activin-A and PAPP-A (0.6071) and free beta-hCG (0.4255). The low median difference and the high overlap in values between trisomic and unaffected pregnancies make total activin-A of little practical use in first-trimester screening for trisomy 21.

Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester.

We present two case reports of osteogenesis imperfecta associated with increased nuchal translucency in the first trimester. We also review the literature of first trimester diagnosis of skeletal dysplasias and their association with increased nuchal translucency.

Early prediction of severe twin-to-twin transfusion syndrome.

This extended series of 303 monochorionic twin pregnancies examined at 10-14 weeks gestation explores the possible association of increased fetal nuchal translucency thickness (NT) in the early prediction of severe twin-to-twin transfusion syndrome (TTS). Of 303 pregnancies, there were 16 in which at least one fetus was structurally or chromosomally abnormal and in the remaining 287 ongoing pregnancies there were 43 (15%) which developed severe TTS. The median fetal NT was 1.0 multiples of the median (MOM) and NT was >95th centile in 47 (8.2%) fetuses and in at least one fetus in 37 (12.9%) pregnancies. The prevalence of increased NT in the pregnancies that developed TTS [17.4% (n = 15) of fetuses and 28% (n = 12) of pregnancies] was significantly higher than in the non-TTS group [6.6% (n = 32) and 10.2% (n = 25) respectively; Z: = -3.4, P: < 0.001 and Z: = 3.2, P: < 0.001 respectively], likelihood ratio of increased fetal NT for prediction of TTS = 3.5 [95% confidence interval (CI) 1.9-6.2]. In 153 of the pregnancies, an ultrasound examination was also performed at 15-17 weeks gestation and intertwin membrane folding was seen in 49 (32%) cases; 21 of these (43%) subsequently developed TTS compared to two (1.9%) of the 104 pregnancies without membrane folding (Z: = 6.6, P: < 0.001), likelihood ratio of membrane folding for prediction of TTS = 4.2 (95% CI 3.0-6.0).

Screening for triploidy by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10-14 weeks of gestation.

In 25 cases of triploidy at 10-14 weeks of gestation, compared with 947 controls, the median multiple of the median (MoM) fetal nuchal translucency (NT) thickness was significantly increased (1.89 MoM), and maternal serum total and free beta-human chorionic gonadotrophin (hCG) were increased (3.13 MoM and 4.59 MoM respectively), alpha fetoprotein (AFP) was increased (2.14 MoM), and pregnancy associated plasma protein A (PAPP-A) was decreased (0.12 MoM). There are two types of triploidy. In type I, where the additional chromosome set is of paternal origin, the placenta is partially molar and the fetus is relatively well-grown. Type II, where the extra chromosome set is of maternal origin, is characterized by a small normal looking placenta and severe asymmetrical fetal growth restriction. In type I triploidy there was increased fetal NT (2.76 MoM), maternal serum total hCG (4.91 MoM), free beta-hCG (8.04 MoM), and AFP (3.22 MoM), and mildly decreased PAPP-A (0.75 MoM). In type II triploidy fetal NT was not increased (0.88 MoM), and there was a decrease in maternal serum total hCG (0.16 MoM), free beta-hCG (0.18 MoM), PAPP-A (0.06 MoM) and AFP (0.77 MoM). We conclude that a large proportion of triploidy cases of both phenotypes could be identified in the first trimester using NT, maternal serum free beta-hCG and PAPP-A with a combination of trisomy 21 risk and an atypicality approach.

Screening for trisomy 13 by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10-14 weeks of gestation.

In 42 cases of trisomy 13 at 10-14 weeks of gestation, compared with 947 controls, the median multiple of the median (MoM) of maternal serum free beta-human chorionic gonadotrophin (beta-hCG) and pregnancy associated plasma protein A (PAPP-A) was significantly decreased (0.506 MoM and 0.248 MoM respectively), whilst fetal nuchal translucency was increased (2.872 MoM). In 38% and 71% of cases of trisomy 13 maternal serum free beta-hCG and PAPP-A was below the 5th centile of the appropriate normal range for gestation and in 62% of cases the nuchal translucency was above the 95th centile. When combined together in a multivariate algorithm with maternal age, 90% of cases of trisomy 13 could be detected at a 0.5% false positive rate or 84% at a 0.1% false positive rate. We conclude that specific trisomy 13 risks should be part of developing risk algorithms combining maternal serum biochemistry and nuchal translucency for use in first trimester screening alongside those for trisomy 21 and trisomy 18.

First trimester diagnosis of monoamniotic twin pregnancies.

This study reports the ultrasound findings and pregnancy outcome for a series of monoamniotic twin pregnancies diagnosed at 11-14 weeks' gestation. Of 315 monochorionic twin pregnancies examined, there were 12 (3.8%) monoamniotic, including four sets of conjoined twins (1.3%). The parents opted for termination of pregnancy in all cases of conjoined twins. In four other cases, there was discordancy for major structural fetal abnormality (kyphoscoliosis, anencephaly, body stalk defect, diaphragmatic hernia), and the cotwin was structurally normal. In the four cases in which both twins were structurally normal, ultrasound examination demonstrated normal nuchal translucency thickness in all cases but cord entanglement was demonstrated from the first trimester. Two cases were managed expectantly; one resulted in livebirth of both twins at 31 weeks' gestation and the second in intrauterine death of both fetuses at 21 weeks. Two pregnancies were treated with Sulindac; one resulted in a single intrauterine death at 30 weeks and delivery of a normal cotwin, the other, in intrauterine death of both fetuses at 31 weeks'. Monoamniotic twin pregnancies are associated with a high risk of fetal abnormalities and perinatal death and the mortality rate is higher than previously reported from series with recruitment later in gestation.