Prenatal diagnosis and molecular genetic analysis of recurrent trisomy 18 of maternal origin in two consecutive pregnancies.

OBJECTIVE: We present prenatal diagnosis and molecular genetic analysis of recurrent trisomy 18 of maternal origin in two consecutive pregnancies. CASE REPORT: A 37-year-old, gravida 3, para 1, woman was referred for genetic counseling because of cystic hygroma on ultrasound at 12 weeks of gestation, a previous pregnancy with a fetus with trisomy 18, and an abnormal first-trimester non-invasive prenatal testing (NIPT) result of Z score of 9.74 (normal: -3.0-3.0) in chromosome 18 suggesting trisomy 18 during this pregnancy. The fetus died at 14 weeks of gestation, and a malformed fetus was terminated at 15 weeks of gestation. Cytogenetic analysis of the placenta revealed a karyotype of 47,XY,+18. Quantitative fluorescent polymerase chain reaction (QF-PCR) assays on the DNA extracted from parental bloods and umbilical cord determined a maternal origin of trisomy 18. One year previously, the woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age of 36 years. Amniocentesis revealed a karyotype of 47,XX,+18. Prenatal ultrasound was unremarkable. The mother had a karyotype of 46,XX, and the father had a karyotype of 46,XY. QF-PCR assays on the DNA extracted from parental bloods and cultured amniocytes determined a maternal origin of trisomy 18. The pregnancy was subsequently terminated. CONCLUSION: NIPT is useful for rapid prenatal diagnosis of recurrent trisomy 18 under such a circumstance.

Postoperative reproductive outcomes in women with ovarian pregnancy: A retrospective analysis.

OBJECTIVE: The reproductive outcomes of ovarian pregnancy are currently unknown. Therefore, the objective of our study was to report the pregnancy outcomes of women with laparoscopically treated ovarian pregnancy. MATERIALS AND METHODS: In this retrospective case analysis, unpublished cases of ovarian pregnancy between 2009 and 2016 were reviewed. Women were followed up for 3 years to obtain subsequent pregnancy data. RESULTS: A total of 21 women who intended to become pregnant were included in this study. Predisposing risk factors for ovarian pregnancy including previous pelvic surgery (23.81%), presentation of pelvic endometriosis (23.81%), and prior intrauterine device insertion (9.52%) were identified. The major symptom at presentation was abdominal pain (85.71%), and no preoperative sonographic diagnosis of ovarian pregnancy was identified. Laparoscopic wedge resection was performed in most women (90.48%). During the 3-year follow-up period, spontaneous intrauterine pregnancy was observed in 13 women (61.90%), 2 women (9.52%) became pregnant through artificial insemination treatment, and 6 women are not able to get pregnant (28.57%). None of the women experienced recurrent ectopic pregnancy. CONCLUSION: The postoperative pregnancy outcomes of women with ovarian pregnancy were encouraging. In this study, the spontaneous intrauterine pregnancy rate was favorable, and no cases of recurrent ectopic pregnancy were reported.

Adrenal Tumor Mimicking Non-Classic Congenital Adrenal Hyperplasia.

Elevated 17-hydroxyprogesterone may be caused by congenital adrenal hyperplasia, ovarian or adrenal tumors. A positive cosyntropin stimulation test result for 17-hydroxyprogesterone may be found in functional or non-functional tumors and be related to tumor size. Here, we present a case of a 36-year-old woman with a 4-year history of infertility. Laboratory test results revealed elevated progesterone and 17-hydroxyprogesterone, with normal luteinizing hormone, follicle-stimulating hormone, estrogen, testosterone, and anti-Mullerian hormone levels. The 250-µg cosyntropin stimulation test revealed a 17-hydroxyprogesterone level of 11.3 ng/ml (34.3 nmol/L) and 31.8 ng/ml (96.2 nmol/L) at 0 and 60 min, respectively. Non-classic congenital adrenal hyperplasia was diagnosed initially; however, genetic testing revealed no 21-hydroxylase deficiency. She received dexamethasone but progesterone and 17-hydroxyprogesterone levels remained high. Abdominal computed tomography found a 4.5 × 4.8-cm left adrenal tumor. Subsequent pathological report was compatible with an adrenal cortical adenoma. Progesterone and 17-hydroxyprogesterone levels returned to the normal range postoperatively and the 250-µg cosyntropin stimulation test of 17-hydroxyprogesterone showed a normal response. When biochemically diagnosed NCCAH demonstrate no typical features and show poor response to steroid, the patient should undergo gene mutation analysis and receive adrenal or ovarian imaging. For women suffering from infertility, adrenalectomy of 17-OHP secreting adrenal tumor may improve fertility outcome.

Comparison of placental three-dimensional power Doppler indices and volume in the first and the second trimesters of pregnancy complicated by gestational diabetes mellitus.

Objective: To compare the changes of placental three-dimensional power Doppler indices and volume in the first and the second trimesters of pregnancy with gestational diabetes mellitus (GDM). Methods: This was a prospective case-control study of singleton pregnancies with risk factors for GDM. Data on placental vascular indices including vascularization index (VI), flow index (FI), and vascularization flow index (VFI), as well as placental volume were obtained and analyzed during the first and the second trimesters between pregnant women with and without GDM. Results: Of the 155 pregnant women enrolled, 31 developed GDM and 124 did not. VI and VFI were significantly lower in the GDM group during the first and second trimesters (VI: p = .023, and VFI: p = .014 in the first trimester; VI: p = .049, and VFI: p = .031 in the second trimester). However, the placental volume was similar in both the groups during the first trimester, while it was significantly increased in the GDM group during the second trimester (p = .022). There were no significant differences in FI and uterine artery pulsatility index between the two groups. After adjustments in multivariate logistic regression analysis, significant differences were observed in the first trimester VFI (adjusted odds ratio (OR) 0.76, 95% confidence interval (CI) 0.61-0.93), second trimester VFI (adjusted or 0.83, 95%CI 0.71-0.96), and second trimester placental volume (adjusted or 1.03, 95%CI 1.01-1.05). Conclusions: Placental vascular indices can provide an insight into placental vascularization in GDM during early pregnancy. VFI rather than placental volume may be a sensitive sonographic marker in the first trimester of GDM placentas.

Bio-functionalized magnetic nanoparticles for the immunoassay of fetal fibronectin: a feasibility study for the prediction of preterm birth.

Preterm birth is an important cause of perinatal morbidity and mortality. Various biomarkers in cervicovaginal secretions related to preterm birth have been investigated, of which foetal fibronectin (fFN) shows the greatest potential because of its high negative predictive value. The immunomagnetic reduction (IMR) assay has emerged as a novel quantitative method to detect biomarkers. In this prospective case-control study, we analysed 33 samples of cervicovaginal secretions from pregnant women between 22 and 34 weeks of gestation at high risk of preterm birth. Seventeen samples were from women with term deliveries and 16 from those with preterm deliveries. The fFN concentration in each sample was measured using both an IMR assay and enzyme-linked immunosorbent assay (ELISA). The low detection limits of the IMR assay and ELISA were 0.0001 ng/mL and 0.789 ng/mL, respectively. The sensitivity and specificity of the IMR assay were 0.833 and 0.944, respectively, compared to 0.583 and 0.611 by ELISA. Our results suggest that measuring the concentration of fFN with the IMR assay is a good alternative method to accurately predict the risk of preterm birth.

Comparison of two cervical cerclages for the prevention of preterm birth and neonatal complications.

OBJECTIVE: To investigate the outcomes of singleton pregnant women with cervical insufficiency undergoing two different cervical cerclages. METHODS: This is a retrospective cohort study of women who underwent a history- or ultrasound-indicated cerclage (either Shirodkar or McDonald) at a tertiary referral center from 2002 to 2014. Outcome parameters (delivery age, postoperative cervical length, preterm premature rupture of membranes, preterm delivery rate and neonatal complications) were compared between the two cerclage procedures. Multivariate logistic regression analysis was applied to control for significant variables of preterm birth. Kaplan-Meier survival analysis was used to demonstrate delivery age to percentage of term delivery by cerclage type. RESULTS: Ninety-four cases were initially included. After excluding cases not meeting the study criteria, 60 pregnancies (Shirodkar 36 and McDonald 24) were recruited for analysis. The mean delivery age in the Shirodkar group was more advanced than that in the McDonald group (37.1 ± 3.3 versus 34.8 ± 4.9 weeks, p = 0.039). There were significantly fewer deliveries <37 gestational weeks in the Shirodkar group than in the McDonald group (30.6% versus 58.3%, p = 0.033) but no significant differences in deliveries <28, 32 and 34 gestational weeks. No significant differences were found in neonatal complications except for respiratory distress syndrome (5.6% in Shirodkar versus 29.2% in McDonald, p = 0.023). CONCLUSION: In the setting of history-indicated or ultrasound-indicated cerclage, Shirodkar was superior to McDonald in the prevention of late preterm birth and neonatal respiratory distress syndrome.