Attitude changes toward prenatal testing among women with twin pregnancies after the introduction of noninvasive prenatal testing: A single-center study in Japan.

AIM: This study aimed to evaluate changes in prenatal testing among women with twin pregnancies before and after the introduction of noninvasive prenatal testing (NIPT). To date, no consensus on prenatal testing for twin pregnancies has been reached in Japan. METHODS: Women pregnant with twins who requested prenatal testing at Kyushu Medical Center from 2005 to 2018 were included in this study. Genetic counseling was provided to all participants. Their chosen methods of testing were collected and classified as invasive diagnosis (ID), noninvasive screening (NIS), and no test requested (NR). Parity, chorionicity, and methods of conception were assessed as attributes. The study period was divided into three terms according to testing availability in our center. RESULTS: After NIPT was introduced in our center, the use of ID methods decreased and eventually disappeared while NIS came to the forefront. NR was also the preferred choice of women with twin pregnancies before the introduction of NIPT and decreased but did not disappear after introducing NIPT. Women with twin pregnancies who underwent assisted reproduction initially showed hesitation to undergo testing but showed a strong preference for NIS after the introduction of NIPT. Differences in choice according to parity, chorionicity, and methods of conception were found before the introduction of NIPT but disappeared after introducing NIPT. CONCLUSION: Increasing information about NIPT has apparently influenced the attitudes of women with twin pregnancies to prenatal testing in Japan. In particular, those who conceive through assisted reproductive technologies exhibited a strong preference for NIPT.

Gaucher disease carrier with gestational thrombocytopenia and anemia: a case report.

BACKGROUND: Gaucher disease is an autosomal recessive inborn error of metabolism that causes disorders of blood, bone, and central nervous system as well as hepatosplenomegaly. We present the case of a carrier of Gaucher disease with gestational thrombocytopenia and anemia that required blood transfusion therapy. CASE PRESENTATION: A 24-year-old Nepalese primipara was diagnosed with idiopathic thrombocytopenia at 12 weeks of gestation. Her platelet count had reduced to 30,000/µL at 21 weeks of gestation, and the hemoglobin content reduced to 7.6 g/dL at 27 weeks of gestation. As she did not respond to any medication, blood transfusion was performed. A female infant weighing 2677 g was delivered vaginally at 39 weeks of gestation. On the 78th day of puerperium, the platelet count of the mother recovered to 101,000/µL, and the hemoglobin content recovered to 12.5 g/dL. The infant had convulsions, respiratory depression, wheezing, systemic purpura, and exfoliation of the epidermis at birth. The infant was diagnosed with Gaucher disease at 37 days of age and passed away at 82 days of age. Subsequently, the parents were diagnosed as carriers of Gaucher disease. CONCLUSION: As carriers of this disease do not usually show symptoms, it is imperative to provide information regarding disease management for future pregnancies.

Heterotopic triplet pregnancy: report of a patient with remnant tubal ectopic and intrauterine twin pregnancy after frozen-thawed embryo transfer.

A case of heterotopic triplet pregnancy after frozen-thawed embryo transfer is presented. The patient conceived after transfer of three frozen-thawed embryos at a fertility clinic where she had previously undergone laparoscopic left salpingectomy due to pyosalpinx. Approximately 4 weeks after the embryo transfer, she presented with a complaint of abnormal genital bleeding and was diagnosed by ultrasound as having a dichorionic twin pregnancy. One week later, she was referred to our hospital because of lower abdominal pain. Hematoperitoneum was suspected based on findings of low blood pressure and tachycardia. Diagnostic emergent laparoscopy demonstrated an ectopic pregnancy in the remnant isthmic portion of the left tube. Laparoscopic excision of the remnant fallopian tube was performed, but the procedure resulted in early-pregnancy loss of one of the twins. The risk of heterotopic pregnancy is not small under assisted reproductive technology. Attention should be paid to the risk of tubal pregnancy after transferring more than two embryos or controlled ovarian hyperstimulation, even after salpingectomy has been performed.

Immunohistochemical analysis of 17ß-hydroxysteroid dehydrogenase isozymes in human ovarian surface epithelium and epithelial ovarian carcinoma.

Epidemiological studies have indicated a relationship between gonadal steroid hormones, primarily estrogens, and epithelial ovarian carcinoma. In situ estrogen metabolism and synthesis have been considered to play important roles in the development of the progression of epithelial ovarian carcinoma. 17ß-Hydroxysteroid dehydrogenases (17ß-HSDs) are a group of intracellular isozymes catalyzing interconversions between estradiol (E2) and estrone (E1). In the last step of steroidogenesis, 17ß-HSD type 1 catalyzes the 17ß-reduction and produces E2 from E1. The oxidative enzymes known as types 2, 4, and 8 are potent estrogen-inactivating enzymes that convert E2 to E1. Here we report the immunoexpression of 17ß-HSD types 1, 2, 4, and 8 in normal human ovarian surface epithelium (OSE) and epithelial ovarian carcinoma. For this study, novel polyclonal antibodies were generated against each type of 17ß-HSD. Of the six normal OSE cases investigated, 17ß-HSD types 1, 4, and 8, but not type 2, were found in the cytoplasm of epithelial cells. In 58 cases of epithelial ovarian carcinoma (45 serous, 4 endometrioid, 4 mucinous, and 5 clear cell), estrogen-inactivating 17ß-HSDs were commonly found (type 2, 84.5%; type 4, 82.8%; type 8, 86.2%), whereas type 1 was detected in only 10 cases (17.2%). These results indicate that 17ß-HSDs may be involved in the protective and/or suppressive effects against the estrogen-dependent proliferation of epithelial ovarian carcinoma.