Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins.

Non-invasive prenatal testing (NIPT) by random massively parallel sequencing of maternal plasma DNA for multiple pregnancies is a promising new option for prenatal care since conventional non-invasive screening for fetal trisomies 21, 18 and 13 has limitations and invasive diagnostic methods bear a higher risk for procedure related fetal losses in the case of multiple gestations compared to singletons. In this study, in a retrospective blinded analysis of stored twin samples, all 16 samples have been determined correctly, with four trisomy 21 positive and 12 trisomy negative samples. In the prospective part of the study, 40 blood samples from women with multiple pregnancies have been analyzed (two triplets and 38 twins), with two correctly identified trisomy 21 cases, confirmed by karyotyping. The remaining 38 samples, including the two triplet pregnancies, had trisomy negative results. However, NIPT is also prone to quality issues in case of multiple gestations: the minimum total amount of cell-free fetal DNA must be higher to reach a comparable sensitivity and vanishing twins may cause results that do not represent the genetics of the living sibling, as described in two case reports.

Transobturator tape (TOT) procedure with fluoroscopic guidance: gaining confidence and valuable experience!

OBJECTIVES: To report a successful transobturator tape (TOT) procedure performed under fluoroscopic guidance without any complications. METHODS: The diagnosis of stress urinary incontinence (SUI) was confirmed with urodynamic tests in a 54-year-old woman. TOT procedure was performed under the guidance of fluoroscopy. RESULTS: SUI was treated successfully with TOT procedure. Fluoroscopic guidance not only decreased the length of the procedure but also avoided the possible complications. The operator gained confidence and valuable experience. CONCLUSIONS: TOT procedure can be successfully performed under fluoroscopic guidance avoiding the possible complications and enhancing the learning curve period. We recommend the usage of fluoroscopy especially for the inexperienced operators. The benefits overweigh the cost of fluoroscopy and the absorbed dose of radiation which is calculated to be lower than accepted limits.

Transvaginal ultrasound-guided aspiration and instillation of hyperosmolar glucose for treatment of unruptured tubal heterotopic pregnancy.

OBJECTIVES: To report a case of tubal heterotopic pregnancy (HP) treated conservatively with transvaginal ultrasound-guided aspiration and instillation of hyperosmolar glucose. METHODS: Aspiration of the tubal ectopic pregnancy and hyperosmolar glucose instillation was performed with a 16-gauge needle under transvaginal ultrasound guidance. RESULTS: Unruptured tubal HP with positive cardiac activity was treated successfully without any further interventions, and intrauterine pregnancy has reached full-term without any complications. CONCLUSIONS: Early diagnosis of this life-threatening condition is the key to its successful treatment. Transvaginal ultrasound-guided aspiration and hyperosmolar glucose injection can be safely performed for the treatment of unruptured tubal HP.

Successful pregnancy achieved by assisted reproductive techniques in a woman with severe congenital bicuspid aortic valve stenosis.

OBJECTIVES: To report a twin pregnancy achieved by assisted reproductive techniques in a woman with severe congenital bicuspid aortic valve stenosis. METHODS: Intracytoplasmic sperm injection and embryo transfer was performed in a 38-year-old woman with a complaint of infertility for 8 years due to male factor and who previously had the diagnosis of severe congenital bicuspid aortic stenosis. Clinical and echocardiography follow-up during pregnancy was done. RESULTS: The woman had severe congenital aortic stenosis with a valve area of 0.4 cm(2) and a peak gradient of 57 mmHg. In the first trial, twin pregnancy was achieved. She had an uneventful course of pregnancy in terms of cardiac functions. She underwent caesarean section at 36 weeks of gestation and had a healthy female and a male newborns. CONCLUSIONS: A woman with a severe congenital bicuspid aortic valve may get pregnant and deliver healthy newborns with intensive prenatal care and follow-up. The severe congenital bicuspid aortic valve stenosis may not be considered an absolute contraindication for assisted reproductive techniques and pregnancy.

Comparison of transvaginal sonography, saline infusion sonography and hysteroscopy in the evaluation of uterine cavity pathologies.

AIMS: To determine whether performing transvaginal sonography (TVS) and saline infusion sonography (SIS) before hysteroscopy could reduce the number of diagnostic hysteroscopies performed for the evaluation of uterine cavity abnormalities. METHODS: Two hundred and twenty three women with suspected uterine cavity abnormalities were prospectively evaluated by TVS, SIS and hysteroscopy, and had histological evaluation of the endometrium with hysteroscopic biopsy or dilatation and curettage (D&C). One hundred and sixty five patients (74%) were premenopausal and 58 patients (26%) were postmenopausal. RESULTS: The positive predictive value (PPV) for endometrial polyps was 69% for TVS, 78% for SIS and 81% for hysteroscopy in premenopausal patients. In the postmenopausal group, TVS and SIS could detect only 24% of endometrial polyps, whereas 70% were diagnosed by hysteroscopy. The PPV for submucous fibroids was 47% for TVS, 81% for SIS and 77% for hysteroscopy in the premenopausal group. CONCLUSIONS: In premenopausal patients, SIS and hysteroscopy are equally accurate in the diagnosis of endometrial polyps and submucous fibroids. Hysteroscopy is the most accurate test for polypoid lesions in the postmenopausal group. Performing TVS, SIS and D&C could reduce the number of diagnostic hysteroscopies performed for the evaluation of uterine cavity abnormalities by 71.5% in premenopausal patients. However, this rate decreases to 40% in the postmenopausal group.

Conservative treatment of cervical ectopic pregnancy with transvaginal ultrasound-guided aspiration and single-dose methotrexate.

OBJECTIVE: To present a case of cervical ectopic pregnancy successfully treated with ultrasound-guided aspiration and single-dose methotrexate administered systemically. DESIGN: Case report. SETTING: University hospital. PATIENT(S): A 27-year-old nulliparous woman with a cervical ectopic pregnancy. INTERVENTION(S): Transvaginal ultrasound-guided aspiration of the cervical ectopic pregnancy followed by single-dose methotrexate administered systemically. MAIN OUTCOME MEASURE(S): Recovery of the patient, successful conservative treatment of the cervical ectopic pregnancy, with preservation of the uterus. RESULT(S): The cervical ectopic pregnancy was successfully aborted, and the reproductive capability of the patient was preserved. CONCLUSION(S): Transvaginal ultrasound-guided aspiration in combination with single-dose methotrexate administered systemically can be safely used to treat cervical ectopic pregnancies.