Prevalence of common aneuploidy in twin pregnancies.

The incidence of chromosomal abnormalities in twin pregnancies is not well-studied. In this retrospective study, we investigated the frequency of chromosomal abnormalities in twin pregnancies and compared the incidence of chromosomal abnormalities in dichorionic diamniotic (DD) and monochorionic diamniotic (MD) twins. We used data from 57 clinical facilities across Japan. Twin pregnancies of more than 12 weeks of gestation managed between January 2016 and December 2018 were included in the study. A total of 2899 and 1908 cases of DD and MD twins, respectively, were reported, and the incidence of chromosomal abnormalities in one or both fetuses was 0.9% (25/2899) and 0.2% (4/1908) in each group (p = 0.004). In this study, the most common chromosomal abnormality was trisomy 21 (51.7% [15/29]), followed by trisomy 18 (13.8% [4/29]) and trisomy 13 (6.9% [2/29]). The incidence of trisomy 21 in MD twins was lower than that in DD twins (0.05% vs. 0.5%, p = 0.007). Trisomy 21 was less common in MD twins, even when compared with the expected incidence in singletons (0.05% vs. 0.3%, RR 0.15 [95% CI 0.04-0.68]). The risk of chromosomal abnormality decreases in twin pregnancies, especially in MD twins.

Successful intra-amniotic levothyroxine treatment for fetal goitrous hypothyroidism in a triplet pregnancy.

We report an extremely challenging case of fetal goitrous hypothyroidism involving all three fetuses of a triplet pregnancy in which successful fetal treatment led to a favorable pregnancy outcome. The patient had a trichorionic, triamniotic triplet pregnancy and was referred to us at 24 weeks gestation after goiters affecting all three fetuses and polyhydramnios involving two fetuses were noted. Immediately before the conception, she underwent hysterosalpingography with an oil-soluble iodinated contrast medium. After the diagnosis of fetal hypothyroidism was made, intra-amniotic injection of levothyroxine was performed for two fetuses with polyhydramnios 3 times between 28 and 31 weeks gestation. The goiters shrunk and the polyhydramnios improved in response to the in utero treatment. No complications occurred. Cesarean section was performed at 33 weeks gestation. None of the three neonates developed respiratory insufficiency. Our experience suggested that successful intrauterine treatment is possible for fetal goitrous hypothyroidism, even in a triplet pregnancy. The indication, treatment timing, and diagnostic and assessment strategies should be carefully discussed to minimize puncture-related complications.

Ruptured dermoid cyst of the conus medullaris in the myelomeningocele sac revealed at the initial repair surgery.

BACKGROUND: Dermoid cysts in the myelomeningocele (MMC) site are thought to arise in a delayed fashion because of iatrogenic implantation of dermoid elements at the time of the initial repair surgery. However, there have been few reports on dermoid elements already present at birth. CLINICAL PRESENTATION: We report a patient, in whom dermoid cyst was located at dorsal aspect of the conus medullaris in the MMC sac. Between 23+3 and 24+4 weeks of gestation, rupture of the MMC sac occurred. At this time of gestation, we speculate that rupture of the dermoid cyst also occurred and dissemination of the cyst contents caused chemical arachnoiditis in the MMC sac. At the age of 1 day, surgery to repair MMC and postoperative histological findings revealed these rare pathologies. CONCLUSION: Physicians should be aware of the possibility of rupture of a dermoid cyst in the MMC sac during fetal period.

Analysis of antenatal-onset cerebral palsy secondary to transient ischemia in utero using a national database in Japan.

AIM: We conducted a retrospective analysis of summary medical reports of children diagnosed with cerebral palsy (CP) to identify clinical features of antenatal onset of CP secondary to transient ischemia in utero. METHODS: The 658 brief summary reports available in the Japan Obstetric Compensation System for Cerebral Palsy were screened, and we identified cases of singleton pregnancy, delivered at gestational age ≥ 33 weeks and those with cord blood gas pH ≥ 7.20. Of the 137 cases identified, 84 were excluded for the following reasons: no evidence of ischemic brain lesion, clear post-natal causative factor of CP, presence of a congenital condition, and sentinel hypoxic event, such as uterine rupture. The demographic profiles of the 53 cases included in our analysis were compared to identify those with and without an abnormal variability in fetal heart rate. RESULTS: Between-group comparison identified an association between abnormal heart rate variability and a lower Apgar score at 1 min (2 vs 6; P < 0.001) and 5 min (5.5 vs 8; P = 0.002), and more frequent episodes of fetal movement loss (41% vs 10%; P = 0.027). An hypoxic event ≤ 1 week before delivery was more likely to be associated with abnormal heart rate variability (89%) and low Apgar score (82%), while events at > 1 week were associated with development of polyhydramnios (44%). CONCLUSION: In utero transient ischemic events can contribute to term or near-term CP. Careful follow-up is recommended for fetuses with a history of fetal movement loss, abnormal variability in heart rate, and polyhydramnios of unknown causes.

Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis.

Sirenomelia is a rare congenital malformation characterized by varying degrees of fusion of the lower extremities. It is commonly associated with severe urogenital and gastrointestinal malformations; however, the association of sirenomelia with anencephaly and rachischisis totalis is extremely rare. To our knowledge, the prenatal sonographic images of this association have not been previously published. Here, we present prenatal sonographic images of this association, detected during the 17th week of gestation through combined two-dimensional, four-dimensional, and color Doppler ultrasound. Two-dimensional ultrasound images showed anencephaly, spina bifida, and possible fusion of the lower limbs. Three-dimensional HDlive rendering images confirmed the final diagnosis of sirenomelia with anencephaly and rachischisis totalis. The patient opted to undergo medical termination of pregnancy and delivered a fetus with fused lower limbs, anencephaly, and rachischisis totalis confirming the in utero imaging findings. Awareness of these rare associations will help avoid misdiagnoses and facilitate prenatal counselling. This case highlights the importance of a thorough ultrasound examination.

Acute pancreatitis and cholecystitis associated with postpartum HELLP syndrome: a case and review.

We report a case of preeclampsia associated with hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome and concomitant nonbiliary acute pancreatitis and cholecystitis in the first postpartum day. A thorough investigation ruled out known etiologies of both pancreatitis and cholecystitis. Following conservative treatment, the patient's HELLP syndrome, pancreatitis, and cholecystitis resolved on the third postpartum day. Preeclampsia is associated with microvascular abnormalities that may involve the splanchnic circulation. These abnormalities may cause not only HELLP syndrome but also pancreatitis and cholecystitis. Recognizing that ischemia can damage not only the liver but also the pancreas and gallbladder, could result in improvements in the diagnosis and management of pancreatitis in patients with preeclampsia.

[Fetal germinal matrix and intraventricular hemorrhage associated with periventricular leukomalacia].

Subependymal germinal matrix hemorrhage with intraventricular hemorrhage(SEIVH) is a common complication associated with delivery in preterm neonates but has rarely been observed in the fetus. We report a fetus with SEIVH, hydrocephalus and periventricular leukomalacia(PVL). Although this fetus had uneventful prenatal periods, transabdominal ultrasound examination(US) at 33 weeks of pregnancy revealed SEIVH and hydrocephalus, and MRI at 36 weeks did associated PVL. While no events reported that could explain the onset of SEIVH, PVL was considered to be the results of anoxic events associated with SEIVH. In addition to US, information provided by fetal MRI, especially T 2-weighted image, permits a better understanding of the pathophysiology of fetal SEIVH with PVL.

Fulminant type 1 diabetes during pregnancy: A case report and review of the literature.

Fulminant type 1 diabetes, classified as a subtype of nonautoimmune type 1 diabetes, may result in severe complications for both mother and fetus due to the sudden onset of diabetic ketoacidosis. Little is known about the clinical features of pregnancy with fulminant type 1 diabetes. We present a case of fulminant type 1 diabetes during pregnancy, along with a review of the published literature. A 31-year-old Japanese woman presented with sudden onset of nausea and vomiting at 36 weeks' gestation and was provisionally diagnosed with acute gastroenteritis. She was referred to us for investigation of exaggerated general fatigue and intrauterine fetal death. Based on blood and urinary examinations, she was diagnosed with diabetic ketoacidosis, caused by fulminant type 1 diabetes. Although her ketoacidosis was improved, insulin therapy was needed. Awareness of this disease can lead to prompt diagnosis and treatment and consequently, improved maternal and fetal prognosis.

Prenatal sonographic findings and hematological abnormalities in fetuses with transient abnormal myelopoiesis with Down syndrome.

OBJECTIVES: To determine relevant prenatal findings of transient abnormal myelopoiesis (TAM) that have important prognostic implications. METHODS: The prenatal and postnatal medical records of all cases with confirmed TAM associated with Down syndrome were reviewed retrospectively, with emphasis on prenatal sonographic findings, fetal blood analysis, neonatal outcomes, and causes of death. RESULTS: From January 1992 to December 2005, seven cases were confirmed postnatally as having TAM associated with Down syndrome. Sonography demonstrated hydrops with hepatomegaly in four, and isolated hepatomegaly in two of these seven cases. There were no findings suggestive of cardiac failure in cases of hydrops. Fetal blood analysis revealed elevated liver enzyme levels in six cases and hypoalbuminemia in four cases. Comparison of sonographic findings with fetal blood findings demonstrated an association between hydrops and hypoalbuminemia. Four of the seven cases were fatal. All fatal cases were associated with hydrops and the main cause of death was coagulopathy due to liver failure, which may have resulted from infiltration of the liver by blast cells. CONCLUSIONS: Fetal TAM is associated with hepatomegaly and elevated liver enzyme levels. The prenatal finding with prognostic implications is hydrops, which may result from hypoalbuminemia due to liver failure.

Pleural fluid/serum immunoglobulin ratio is a diagnostic marker for congenital chylothorax in utero.

OBJECTIVE: To distinguish congenital chylothorax from other causes of hydrothorax in utero. METHODS: Serum and pleural fluid samples from 8 fetuses with congenital chylothorax and 5 control fetuses with other causes of hydrothorax were tested for total protein, albumin, IgG, IgA, and IgM. RESULTS: Fetuses with congenital chylothorax had higher levels of IgG in pleural fluid, but not the other four proteins, than control fetuses (P<0.05). There were no significant differences in serum proteins among fetuses. When we examined pleural fluid to serum ratios, the IgG ratio in fetuses with congenital chylothorax was significantly higher than that of control fetuses (P<0.05). The IgG ratio in chylothorax was greater than 0.6 regardless of lymphocyte count. CONCLUSION: Pleural fluid/serum IgG ratio may be a diagnostic marker for congenital chylothorax in utero.

A case of pregnancy complicated by the development of a tubo-ovarian abscess following in vitro fertilization and embryo transfer.

Tubo-ovarian abscess is an uncommon complication in pregnant women. In this report, we present a patient who developed a tubo-ovarian abscess during pregnancy following in vitro fertilization and embryo transfer (IVF-ET). Despite treatment with intravenous antibiotics she delivered at 22 weeks of gestation. After delivery, she underwent a left salpingo-oophorectomy. Review of the literature revealed only 26 reported cases of tubo-ovarian or pelvic abscess during pregnancy. Pelvic inflammatory disease, previous laparotomy, and structural genital anomalies are known risk factors for pelvic abscess during pregnancy. Pelvic abscess resulting as a complication of vaginal oocyte retrieval has been reported. Therefore, although enabling women with organic pelvic disease such as endometriosis and hydrosalpinx to achieve pregnancy, assisted reproductive techniques may potentially result in pelvic infection during pregnancy. This case suggests that a preconception evaluation and treatment for such conditions should be considered for women undergoing treatment for infertility.